Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Orbital Margin, Hypoplasia Of |
|
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly |
OMIM:165600 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Hypospadias, Rhizomelia, Sclerocornea, Anophthalmia, 2-3 toe syndactyly, Mi... |
OMIM:615877 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydacty... |
ORPHA:2935 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis |
OMIM:620086 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Cupped ea... |
OMIM:167730 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Telecanthus, Developmental glaucoma, Unilateral renal agenesis |
OMIM:206750 |
Dermochondrocorneal Dystrophy |
|
Large hands, Corneal dystrophy, Abnormality of the hand |
ORPHA:79149 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microp... |
ORPHA:2717 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Craniosynostosis, Philadelphia Type |
|
Long palpebral fissure, Finger syndactyly |
ORPHA:1527 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Bulbo... |
OMIM:236500 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, A... |
ORPHA:2779 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Cataract, Chorioretinal coloboma |
OMIM:274205 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Gombo Syndrome |
|
Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Gms Syndrome |
|
Epicanthus, Rieger anomaly, Tricuspid regurgitation, Downslanted palpebral fissures |
ORPHA:2090 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystro... |
OMIM:615995 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Posteriorly rotated ears, Broad proximal phalanges of the hand, Optic nerve hypoplas... |
OMIM:607597 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryptophthalmos, Ab... |
OMIM:248450 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Thick eyebrow, 2-3 toe syndactyly, Upslanted palpebral fissure, Short 5th finger, Long eyelashes,... |
OMIM:618608 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Cataract, Ptosis |
ORPHA:893 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Telecanthus, Micromelia, Hypoplasia of the iris, Abnormal sho... |
ORPHA:1422 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Hydrocephalus, Thick corpus callosum, Pol... |
OMIM:615938 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Synophrys, Hypoplastic iris stroma, Heterochromia iridis |
OMIM:193510 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Corneal opacity, Aplasia/Hypoplasia of the distal phalanges of... |
ORPHA:1234 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Epicanthus, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Clinod... |
ORPHA:3268 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Renal agenesis, Camptodactyly of finger, Chorioretinal coloboma, Broad thum... |
ORPHA:1471 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... |
ORPHA:279914 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Congenital hip dislocation, Anophthalmia, Cryptorchidism, Orbital cyst, Eyelid coloboma... |
OMIM:164180 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Epicanthus, Downslanted palpebral fissures |
ORPHA:238446 |
Short Tarsus With Absence Of Lower Eyelashes |
|
Absent lower eyelashes, Hypoplasia of the lower eyelids |
OMIM:600269 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Cryptorchidism, Unilateral Or Bilateral |
|
Renal agenesis |
OMIM:219050 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Upper eyelid coloboma, Lower eyelid coloboma, Femoral bowing, Anotia, Microtia, Flare... |
OMIM:616462 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Bilateral cryptorchidism, Ankyloblepharon, Hypoplastic iliac wing, Pte... |
OMIM:263650 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal vascular tortuosity, Rieger anomaly, Cataract, Hypoplasia of... |
OMIM:609049 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal lung morphology, Upper limb phocomelia, Abnormal heart morphology, Abnormal ... |
ORPHA:294975 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Frontonasal Dysplasia 3 |
|
Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Upper eyelid coloboma, Low-set ears, ... |
OMIM:613456 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology, Sparse lateral eyebrow |
ORPHA:170 |
Short Syndrome |
|
Posterior embryotoxon, Telecanthus, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the... |
ORPHA:3163 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Short metacarpal, Toe syndactyly, Microtia, third degree, Hypoplastic fingernail,... |
OMIM:200110 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Glandular hypospadias, Short 2nd toe, Short 5th finger |
OMIM:176305 |
Distal Deletion 6P |
|
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... |
ORPHA:96125 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Telecanthus, Coxa valga, Hip dislocation, Absent extraocular muscles, Abnormally ... |
OMIM:109120 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot... |
OMIM:614120 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Alopecia, Hyperpigmentation of the skin, Camptodactyly of finger, Short thumb,... |
ORPHA:2251 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow... |
OMIM:225280 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia |
OMIM:615524 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Aniridia And Absent Patella |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the patella |
OMIM:106220 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Frontal bossing, Ulnar deviation of the hand, ... |
OMIM:614175 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Clinodactyly, Iri... |
OMIM:610023 |
Biemond Syndrome Type 2 |
|
Coloboma, Hydrocephalus, Preaxial polydactyly, Hypospadias |
ORPHA:141333 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Ptosis, Cataract, Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Telecanthus, Corneal opacity, Unilateral renal agenesis, Developmental glaucoma, Aniridia |
ORPHA:1064 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Epicanthus, Tapered finger, Hypoplasia of the iris, Astigmatism, Metatarsus valgus,... |
ORPHA:2479 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Split foot, F... |
OMIM:183600 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ... |
ORPHA:1617 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Optic disc coloboma, Hypoplasia of the iris, Upslanted palpebral fi... |
OMIM:600092 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Acrofrontofacionasal Dysostosis |
|
Ptosis, Brachydactyly, Hypospadias, Camptodactyly of finger, Micromelia, Brushfield spots, Eyelid... |
ORPHA:1784 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,... |
OMIM:221900 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... |
ORPHA:189 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Deafness, X-Linked 7 |
|
Ptosis, Telecanthus, Posteriorly rotated ears, Unilateral microphthalmos, Atresia of the external... |
OMIM:301018 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Frontal bossing, Craniosynostosis, Preax... |
ORPHA:380 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Toe syndactyly, Camptodactyly of finger, Abnormal hair pattern, Absen... |
ORPHA:920 |
Fraser Syndrome 2 |
|
Low anterior hairline, Cutaneous syndactyly, Atresia of the external auditory canal, Low-set ears... |
OMIM:617666 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Epicanthus, Posteriorly rotated ears, 2-3 toe syndactyly, Horizontal eyebrow, Low-set ears, Clino... |
OMIM:619311 |
Barber-Say Syndrome |
|
Ablepharon, Telecanthus, Ectropion, Abnormal pinna morphology, Sparse or absent eyelashes, Breast... |
ORPHA:1231 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Hypoplastic toenails, Short toe, Absent middle phalanx of the 3rd toe,... |
OMIM:615297 |
Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Aplasia/Hypoplasia of the earlobes, Deviation of... |
ORPHA:1104 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Right aortic arch with mirror image branching |
OMIM:606217 |
D-Lactic Aciduria With Gout |
|
Aniridia, Downslanted palpebral fissures, Lacticaciduria |
OMIM:245450 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Ab... |
ORPHA:1791 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Ventriculomegaly, Microcephaly, Death in adolescence, Hypoplasia of the brainstem, Bilateral tali... |
OMIM:616486 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... |
ORPHA:290 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Sandal gap, Single transverse palmar crease, Prominent nasal bridge, Postaxial pol... |
OMIM:617927 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Micro... |
OMIM:278730 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Fraser Syndrome 3 |
|
Short toe, Cutaneous syndactyly, Low-set ears, Cryptophthalmos, Simple ear |
OMIM:617667 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
WAGR 11p13 deletion syndrome |
|
Aniridia, Renal neoplasm |
DECIPHER:35 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... |
ORPHA:1473 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... |
OMIM:206920 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal calvaria morphology, Camptodactyly of toe, Agenesis of corpus callosum, Broad hallux pha... |
OMIM:175700 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Microceph... |
ORPHA:1908 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Ptosis, Sparse lower eyelashe... |
ORPHA:245 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Small hand, Antecubital pterygium, Ankyloblepharon, Popliteal pt... |
OMIM:619339 |
Treacher Collins Syndrome 4 |
|
Conductive hearing impairment, Downslanted palpebral fissures, Preauricular hair displacement, Lo... |
OMIM:618939 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
White Forelock With Malformations |
|
Atrial septal defect, White forelock, Poliosis, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Trisomy 13 |
|
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Abnormal eyelash morphology, Postax... |
ORPHA:3378 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Proteinuria, Retinal dystrophy, Non-acidotic proximal tubulopathy, ... |
OMIM:222448 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum,... |
OMIM:615937 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphthalmia, Pelvic kid... |
OMIM:613001 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Ablepharon, Toe syndactyly, Cataract, Rocker bottom foot |
OMIM:616038 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Ectopic kidney, Ab... |
ORPHA:233 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm |
ORPHA:261102 |
Neuhauser Syndrome |
|
Iridodonesis, Epicanthus, Arachnodactyly, Genu valgum, Hypoplasia of the iris, Megalocornea, Down... |
OMIM:249310 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... |
ORPHA:42665 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Upslanted palpebral fissure, Unilateral renal agenesis |
ORPHA:2512 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polydactyly, Talipes ... |
OMIM:613885 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Lattice Type I |
|
Lattice corneal dystrophy, Recurrent corneal erosions |
OMIM:122200 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Unil... |
OMIM:618142 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly, Coloboma, Nephronophthisis, Micropenis |
OMIM:614464 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... |
OMIM:618780 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Lacrimal duct aplasia, Cutaneous finger syndactyl... |
DECIPHER:46 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Malformed lacrimal duct, Cutaneous finger syndacty... |
OMIM:219000 |
Zechi-Ceide Syndrome |
|
Sandal gap, Thick hair, Conductive hearing impairment, Short metatarsal, Abnormal earlobe morphol... |
ORPHA:217017 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Ventriculomegaly And Arthrogryposis |
|
Ulnar deviation of the wrist, Cerebellar hypoplasia, Talipes equinovarus, Hand clenching, Agenesi... |
OMIM:619501 |
Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb mo... |
ORPHA:1597 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, F... |
ORPHA:2092 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi... |
OMIM:300700 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Redundant neck skin, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, C... |
OMIM:617967 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Teebi Hypertelorism Syndrome 2 |
|
Syndactyly, Ptosis, Upper eyelid coloboma, Clinodactyly of the 5th finger, Thick eyebrow, Hearing... |
OMIM:619736 |
Axenfeld-Rieger Syndrome |
|
Telecanthus, Hypospadias, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, P... |
ORPHA:782 |
Terminal Osseous Dysplasia |
|
Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Abnormal hand bone ossifica... |
OMIM:300244 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Microcephaly, Anencephal... |
ORPHA:1590 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... |
ORPHA:2839 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Palmoplantar keratoderma, Limbal stem cell deficiency, Finger joint h... |
OMIM:615225 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... |
ORPHA:54 |
Albinism-Deafness Syndrome |
|
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... |
ORPHA:998 |
Bardet-Biedl Syndrome 9 |
|
Attenuation of retinal blood vessels, Syndactyly, Renal insufficiency, Cataract, Bone spicule pig... |
OMIM:615986 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Acromelic Frontonasal Dysostosis |
|
Preaxial polydactyly, Brachycephaly, Patellar hypoplasia, Short tibia, Cavum septum pellucidum, A... |
OMIM:603671 |
Waardenburg Syndrome, Type 2F |
|
Telecanthus, Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural he... |
OMIM:619947 |
Microhydranencephaly |
|
Prominent nasal bridge, Microcephaly, Hypoplasia of the brainstem, Talipes equinovarus, Cerebella... |
OMIM:605013 |
Trisomy 12P |
|
Epicanthus, Aplasia/Hypoplasia of the iris, Large hands, Abnormality of the urinary system, Clino... |
ORPHA:1699 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Aniridia |
OMIM:206700 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Epicanthus, Optic atroph... |
OMIM:251300 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, Bifid distal phalanx of th... |
ORPHA:370010 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Retinal detachment, Rieger anomaly, Abnormality of the kidney, Tapered finger, Long fingers, Calc... |
ORPHA:521445 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Abnormal finger morphology, Sparse or absent eyelashes, Coarse... |
ORPHA:113 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Hypospadias, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, An... |
OMIM:180500 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... |
ORPHA:2722 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Corneal opacity, Unilateral renal agenesis |
ORPHA:281090 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Sclerosteosis |
|
Finger syndactyly, Sensorineural hearing impairment, 2-3 finger syndactyly, Curved distal phalang... |
ORPHA:3152 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Brachydactyly Type A4 |
|
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... |
ORPHA:93394 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Hypomelanosis Of Ito |
|
Syndactyly, Epicanthus, Cataract, Hand polydactyly, Radial deviation of finger, Clinodactyly, Iri... |
OMIM:300337 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Weakness of the intrinsic hand muscles |
OMIM:160565 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Renal insufficiency, Hypoplasia of penis, Cataract, Brachydactyly, Epicanthus,... |
ORPHA:2377 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Abnormality of the ear, W... |
OMIM:172800 |
Pontocerebellar Hypoplasia, Type 12 |
|
Death in infancy, Rocker bottom foot, Cerebral atrophy, Hypoplasia of the brainstem, Lateral vent... |
OMIM:618266 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Single transverse palmar crease, Brachycephaly, Advanced eruption of teeth, Distally placed thumb... |
OMIM:619148 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Postaxial h... |
OMIM:611134 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Abnormal foot morphology, Preaxial... |
ORPHA:64754 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, Overlapping toe, Single transverse palmar crease, Posteriorly rotated ears, Fibul... |
OMIM:201170 |
Insulin-Like Growth Factor I, Resistance To |
|
Rieger anomaly, Sandal gap, Highly arched eyebrow, Synophrys, Small hand, Short foot, Upslanted p... |
OMIM:270450 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... |
ORPHA:2091 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Abnormality of the hand, Frontal encephalocele, Abnormality of the upper li... |
ORPHA:521308 |
Immunodeficiency 10 |
|
Hypoplasia of the iris |
OMIM:612783 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypoplasia of the iris, Heterochrom... |
OMIM:611584 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Bowing of the legs, Leukocoria, Telangiectasia, Hypertension, Short lower limbs |
OMIM:219250 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Ptosis, ... |
ORPHA:1647 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Epicanthus, Short metacarpal, Cataract, Short thumb, Chorioretinal coloboma |
ORPHA:2489 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, Microphallus, H... |
OMIM:612651 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Femoral retroversion, Perisyl... |
OMIM:616531 |
Fetal Encasement Syndrome |
|
Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:613630 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Glue ear, Abnormal fingernail morphology,... |
ORPHA:1433 |
Woolly Hair Nevus |
|
Brachydactyly, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Eyelid coloboma, Downslanted palpebral fissures, Palmoplantar cutis laxa, Abnormal digit morpholo... |
OMIM:268850 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Split hand, Hand monodactyly, Split foot, Retinopathy |
OMIM:183800 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neo... |
OMIM:617388 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla... |
OMIM:613573 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... |
ORPHA:2119 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Ventricular septal defect, Camptodactyly... |
ORPHA:1388 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Short thumb... |
OMIM:263750 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis, Postaxial polydactyly |
OMIM:613094 |
Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Microcephaly, Clinodactyly of the 5th finger, Short... |
ORPHA:217340 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:85168 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Broad hallux, Sandal gap, Optic atrophy, Unilateral narrow palpebral fissure, Ectopia p... |
OMIM:618727 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Short tibia, Humeroradial synostosi... |
OMIM:251230 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Heterochromia iridis, Hypopigmentation of the fundus |
OMIM:103500 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Hypoplastic fingernail, Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal... |
ORPHA:1113 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia |
OMIM:613618 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Heyn-Sproul-Jackson Syndrome |
|
Short metacarpal, Epicanthus, Sparse hair, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Abnormal digit morphology, Syndactyly, Finger syndactyly, Increased cornea... |
ORPHA:2363 |
Ring Chromosome 8 Syndrome |
|
Frontal bossing, Anteverted nares, Abnormality of the ureter, Deviation of finger, Short nose, Hy... |
ORPHA:1450 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Uplifted earlobe, Hearing impairment, Bil... |
OMIM:617746 |
Short Syndrome |
|
Enlarged epiphyses, Rieger anomaly, Cataract, Telecanthus, Clinodactyly, Slender long bone, Astig... |
OMIM:269880 |
Wilson-Turner Syndrome |
|
Uplifted earlobe, Tapered finger, Small hand, Short foot, Microtia, Thick eyebrow |
ORPHA:3459 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Narrow nasal bridge, Frontal bossing, Overhanging nasal tip, Microcephaly, Small hand, Cone-shape... |
ORPHA:85172 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:120433 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Microcephaly, Underdeveloped nasal alae, Hydranencephaly, Short distal... |
OMIM:601355 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
3Q29 Microduplication Syndrome |
|
Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma, Down... |
ORPHA:251038 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Posterior embryotoxon, Hydroureter, Epicanthus, Unilateral renal agenesis, Elbow... |
OMIM:619194 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:99811 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Hearing impairment, Elbow ... |
ORPHA:3258 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Micromelia, Aplastic clavicle, Postaxial po... |
OMIM:616546 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Attached earlobe, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly o... |
ORPHA:1327 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re... |
OMIM:603194 |
Winchester Syndrome |
|
Osteolysis involving tarsal bones, Corneal opacity, Broad metacarpals, Carpal osteolysis |
OMIM:277950 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Highly arched eyebrow, Synophrys, Microtia, Sparse hair, Atrial septal defe... |
OMIM:616854 |
Coxoauricular Syndrome |
|
Microtia, Hip dislocation, Hearing impairment |
OMIM:122780 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes, Cupped ear, Lower eyelid coloboma, Protruding ear, Microtia, Low-set ... |
OMIM:616367 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Cutaneous sy... |
ORPHA:2890 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Thick eyebrow, Synophrys, Blue irides, Hypoplastic i... |
OMIM:193500 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Ventriculomegaly, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydacty... |
OMIM:617866 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Hypospadias, Acrania, Absent septum pellucidum, Dysplastic... |
OMIM:618820 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Renal cyst, Brachydactyly |
OMIM:615982 |
Dubowitz Syndrome |
|
Syndactyly, Epicanthus, Telecanthus, Hypospadias, Single transverse palmar crease, Blepharophimos... |
OMIM:223370 |
Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Cloverleaf skull, Turricephaly, Craniosynostosis, ... |
ORPHA:65759 |
Abruzzo-Erickson Syndrome |
|
Epicanthus, Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Abnormal localization of... |
ORPHA:921 |
Masa Syndrome |
|
Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Talipes equinovarus, Pes cavus, Ventric... |
OMIM:303350 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Unilateral renal agenesis, Hip dislocation, Developmental ... |
OMIM:616603 |
Pierpont Syndrome |
|
Telecanthus, Posteriorly rotated ears, Uplifted earlobe, Hearing impairment, Cryptorchidism, Shor... |
ORPHA:487825 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Microtia, Downslanted palpebral fissures, Lower eyelid coloboma |
OMIM:248390 |
Pallister-Hall Syndrome |
|
Abnormal lung lobation, Holoprosencephaly, Neonatal death, Distal shortening of limbs, Syndactyly... |
OMIM:146510 |
Weiss-Kruszka Syndrome |
|
Hypoplastic fingernail, Bicuspid aortic valve, Single transverse palmar crease, Proximal placemen... |
OMIM:618619 |
Isolated Ectopia Lentis |
|
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Hydrocephalus, Iris coloboma |
OMIM:210350 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly |
OMIM:614416 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Melanocytic nevus, Sparse body hai... |
ORPHA:1008 |
1Q21.1 Microduplication Syndrome |
|
Frontal bossing, Hypospadias, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovarus |
ORPHA:250994 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:300887 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anisocoria, R... |
OMIM:613550 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Synophrys, Microtia, Low-set ears, Clinodactyly, Hirsutism |
ORPHA:357175 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
Adams-Oliver Syndrome 3 |
|
Hypoplastic fifth fingernail, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short... |
OMIM:614814 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Frontal bossing, Hydrocephalus, Cerebellar hypoplasia, Dolichocephaly, Dandy-Walker malformation,... |
ORPHA:1538 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose |
OMIM:300577 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia o... |
ORPHA:2570 |
Proboscis Lateralis |
|
Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormali... |
ORPHA:141099 |
Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimosis, Iris coloboma |
ORPHA:3374 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
Moebius Syndrome |
|
Decreased testicular size, Syndactyly, Brachydactyly, Epicanthus, Abnormal pinna morphology, Hypo... |
OMIM:157900 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Microphthalmia, Spherophaki... |
OMIM:601552 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Telecanthus, Split hand, Aplasia/Hypoplasia of the radius, Mic... |
ORPHA:2117 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia |
ORPHA:1065 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries |
OMIM:231060 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal hair quantity, Finger syndactyly, Abnormal eyelid morphology, Ectropion of lower eyelids... |
ORPHA:1997 |
Camptobrachydactyly |
|
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... |
OMIM:114150 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Toe syndactyly, Anophthalmia, Abnormal hair... |
ORPHA:2052 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Anteverted nares, Ulnar deviation of the wrist, Hydrocephalus, Unilambdoid syno... |
OMIM:618577 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal... |
OMIM:611561 |
Scalp-Ear-Nipple Syndrome |
|
Anisocoria, Supraventricular tachycardia, Clinodactyly of the 5th finger, Iris coloboma, Finger s... |
OMIM:181270 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Neurofaciodigitorenal Syndrome |
|
Epicanthus, Abnormal distal phalanx morphology of finger, Corneal dystrophy, Unilateral renal age... |
ORPHA:2673 |
Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly, Palmoplantar keratoderma, Sparse hair, Macrotia |
OMIM:613576 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Glue ear, Secundum atrial septal defect, Short foot, Hypertensi... |
OMIM:619758 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Thickened helices, Microtia, Atrial septal ... |
ORPHA:261295 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Thick eyebrow, Epicanthus, Broad hallux, Posteriorly rotated ears, Highly arched eyeb... |
OMIM:613684 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Preaxial hand polydactyly, Protruding ear, Multiple c... |
ORPHA:2316 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Turricephaly, Single transverse palmar crease, Underdeveloped na... |
OMIM:601224 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... |
ORPHA:2549 |
Pierpont Syndrome |
|
Telecanthus, Posteriorly rotated ears, Blepharophimosis, Cryptorchidism, Short toe, Unilateral na... |
OMIM:602342 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microcephaly, Talipes equinovarus, Cerebellar hypoplasia, Agenesis of corpus ... |
OMIM:616570 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Hearing impairment, Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Microti... |
ORPHA:1914 |
Waardenburg Syndrome Type 2 |
|
Ptosis, Hypopigmentation of hair, Telecanthus, Sensorineural hearing impairment, Hypopigmented sk... |
ORPHA:895 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Preaxial hand polydactyly, Conductive hearing impairment, Overfolded helix, Abnorm... |
ORPHA:79113 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Posteriorly rotated ears,... |
OMIM:600325 |
Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Postaxial hand... |
ORPHA:66625 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Synophrys, Microtia, Low-set ears, Clinodactyly, Hirsutism |
OMIM:615162 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Interphalangeal joint contracture of finger, Preaxial hand polydactyly, Widow's peak, Sparse hair... |
OMIM:606242 |
Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Microphthalmia, Clinodactyly, Downslanted palpebral fissu... |
OMIM:619981 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Proximal placemen... |
ORPHA:1120 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Telecanthus, Partial albinism, Camptodactyly of finger, Blepharophimosis, Senso... |
OMIM:148820 |
Weaver Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Deep-set nails, Sandal gap, Camptodactyly o... |
ORPHA:3447 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Epicanthus, Cataract, Broad long bones, Sparse eyelashes, Fifth finger distal phalanx clinodactyl... |
OMIM:257850 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Absent fifth fingernail, Toe syndactyly, Sensorineural hearing impairment, Absent middle phalanx ... |
OMIM:124480 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hip dysplasia, Chorioretinal coloboma,... |
ORPHA:195 |
Blepharocheilodontic Syndrome 2 |
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Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, Euryblepharon, Nail dysplasia, D... |
OMIM:617681 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
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Sparse eyebrow, 2-3 toe syndactyly, Long palpebral fissure, Dry skin, 3-4 finger syndactyly |
OMIM:600906 |
Burn-Mckeown Syndrome |
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Blepharophimosis, 2-3 toe syndactyly, Lower eyelid coloboma, Protruding ear, Conductive hearing i... |
OMIM:608572 |
Microphthalmia With Brain And Digit Anomalies |
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Finger syndactyly, Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Proximal placement of... |
ORPHA:139471 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
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Upslanted palpebral fissure, Microphthalmia, Epicanthus, Hypogonadism |
ORPHA:2528 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
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Syndactyly, Epicanthus, Osteolysis involving bones of the upper limbs, Osteolysis involving bones... |
ORPHA:88630 |
Laurin-Sandrow Syndrome |
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Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Abno... |
ORPHA:2378 |
Arthrogryposis, Distal, Type 7 |
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Metatarsus adductus, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Talipes equinovarus |
OMIM:158300 |
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis |
OMIM:620009 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Frontal bossing, Delayed epiphyseal ossification, Wide nasal bridge, Cerebral atrophy, Genu valgu... |
ORPHA:166024 |
Temtamy Syndrome |
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Telecanthus, Short toe, Genu varum, Low-set ears, Clinodactyly of the 5th finger, Microphthalmia,... |
ORPHA:1777 |
Brachydactyly, Type B2 |
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Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Summitt Syndrome |
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Syndactyly |
OMIM:272350 |
Proximal Symphalangism |
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Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Retinitis Pigmentosa 9 |
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Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Frontonasal Dysplasia 1 |
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Conductive hearing impairment, Postaxial hand polydactyly, Widow's peak, Anterior basal encephalo... |
OMIM:136760 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
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Abnormal pinna morphology, Cryptorchidism, Widow's peak, Small hand, Overfolded helix, Upslanted ... |
OMIM:614684 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
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Low-set, posteriorly rotated ears, Bilateral single transverse palmar creases, Ventricular septal... |
ORPHA:1770 |
Nephroblastoma |
|
Aniridia, Hypertension, Nephroblastoma, Hematuria |
ORPHA:654 |
Arthrogryposis, Distal, Type 1B |
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Foot joint contracture, Rocker bottom foot, Talipes equinovarus, Camptodactyly, Joint contracture... |
OMIM:614335 |
Ectrodactyly-Polydactyly |
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Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Mucoepithelial Dysplasia, Hereditary |
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Cataract, Keratoconjunctivitis, Hematuria, Melena, Opacification of the corneal stroma, Corneal n... |
OMIM:158310 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
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Curly hair, Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Curly eyelashes, Mul... |
ORPHA:163654 |
Acrocephalopolydactyly |
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Limb undergrowth, Short long bone, Microtia, Brachydactyly |
ORPHA:221054 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Depressed nasal bridge, Microcephaly, Hip dislocation, Small hand, Short foot, Talipes equinovarus |
OMIM:300434 |
Deafness, Congenital, With Total Albinism |
|
Albinism, Hearing impairment |
OMIM:220900 |
20P13 Microdeletion Syndrome |
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Finger syndactyly, Telecanthus, Posteriorly rotated ears, Abnormal pinna morphology, Highly arche... |
ORPHA:313781 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
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Finger syndactyly, Epicanthus, Proximal placement of thumb, Abnormal thumb morphology, Sensorineu... |
ORPHA:1825 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... |
OMIM:617294 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Turricephaly,... |
ORPHA:171839 |
Coloboma Of Macula With Type B Brachydactyly |
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Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad... |
OMIM:120400 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormal ... |
ORPHA:178303 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia, Telecanthus, Hip dislocation, Large fleshy ears, Cutaneous finger syndactyly, Short mid... |
OMIM:203550 |
Desbuquois Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Coxa valga... |
ORPHA:1425 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Trisomy 18 |
|
Cyclopia, Choanal atresia, Spina bifida, Camptodactyly of finger, Microcephaly, Abnormality of th... |
ORPHA:3380 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis |
OMIM:300915 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Retinal dystrophy, Symblepharon, Elbow flexion contracture, Osteolytic defects of the... |
OMIM:618175 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Aplasia/Hypoplasia of the lungs,... |
ORPHA:3429 |
17P13.3 Microduplication Syndrome |
|
Frontal bossing, Wide nose, Congenital hip dislocation, Hypoplasia of penis, Hypoplasia of the co... |
ORPHA:217385 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures... |
OMIM:229400 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Moderate Multiminicore Disease With Hand Involvement |
|
Recurrent patellar dislocation, Intrinsic hand muscle atrophy, Knee dislocation, Distal upper lim... |
ORPHA:178145 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Prominent ear helix, Synophrys, Low anterior hairline, Large earlobe, Long eyelashe... |
ORPHA:411986 |
Mmep Syndrome |
|
Microphthalmia, Split foot, Triphalangeal thumb, Cryptorchidism |
ORPHA:3434 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Microtia, Aplasia/Hypoplasia affectin... |
ORPHA:1703 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Hypospadias, Aniridia, Nephropathy, Nephroblastoma |
OMIM:194072 |
Kid Syndrome |
|
Sparse eyelashes, Equinus calcaneus, Keratitis, Coxa valga, Corneal erosion, Posterior blephariti... |
ORPHA:477 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Triphalangeal thumb, Chorioretinal coloboma, Vesicoureteral r... |
ORPHA:959 |
Otoonychoperoneal Syndrome |
|
Underfolded helix, Aplasia/Hypoplasia of the earlobes, Upslanted palpebral fissure, Abnormal anti... |
ORPHA:2793 |
Congenital Varicella Syndrome |
|
Atypical scarring of skin, Microphthalmia |
ORPHA:291 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor... |
ORPHA:1354 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnorm... |
ORPHA:1166 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse hair, Abnormal m... |
ORPHA:2095 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Iris coloboma, Chorioretinal coloboma |
OMIM:601706 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia |
ORPHA:2151 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Orofaciodigital Syndrome Xi |
|
Downslanted palpebral fissures, Postaxial polydactyly |
OMIM:612913 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... |
ORPHA:2703 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Short foot, Microtia, Joint contracture of the 5th finger, Clinoda... |
OMIM:248910 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Epicanthus, Telecanthus, Hypospadias, Blepharophimosis, Epispadias, Ab... |
ORPHA:3339 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... |
OMIM:607323 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Hypoplastic fifth toenail, Ventricular septal ... |
ORPHA:2438 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chronic kidney disease, Stage 5... |
ORPHA:3156 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... |
OMIM:613854 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Abnormal cerebral white matter morphology, Talipes equinovarus, Microcephaly |
OMIM:615683 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Trisomy 9P |
|
Bilateral single transverse palmar creases, Abnormal pupil morphology, Clinodactyly of the 5th fi... |
ORPHA:236 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Proteinuria, Hypertension, Aniridia, Nephroblastoma, Downslanted palpe... |
OMIM:612469 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Epicanthus, Unilateral renal agenesis, Synophrys, 2-3 toe syndactyly, Talipes equinovarus, Clinod... |
ORPHA:3306 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Cataract, Toe syndactyly, Abnormality of the kidney, Abnormal cornea morphology... |
ORPHA:2611 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis |
ORPHA:1259 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Epicanthus, Large earlobe, Polydactyly, Microphthalmia, Downslanted palpebral fissures |
OMIM:602501 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis... |
OMIM:613320 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Microtia, Camptodactyly, He... |
OMIM:616006 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Split foot, Blepharophimosis, Microphthalmia, Short palpebral fissure |
OMIM:601349 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Tricuspid regurgitation, Corneal dystrophy, Camptodactyly of finger, Abnormal size ... |
ORPHA:1101 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Hearing abnormality, Cupp... |
ORPHA:1352 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Acalvaria |
|
Talipes, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Aplasia/Hypo... |
ORPHA:945 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Epicanthus, Unilateral renal agenesis, Neonatal epiphyseal stipp... |
OMIM:101800 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhag... |
OMIM:175780 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... |
ORPHA:2878 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Slow-growing hair, Metatarsus valgus, Aplasia/Hypoplasia of... |
ORPHA:3082 |
Alagille Syndrome |
|
Keratoconus, Hypoplasia of the ulna, Telangiectasia of the skin, Corneal dystrophy, Renal hypopla... |
ORPHA:52 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Pes planus, Genu recurvatum, Microcephaly, Bulbous nose, Wide nasal bridge, Talipes equinovarus, ... |
OMIM:614066 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Distal upper limb muscle weakness, Tal... |
OMIM:619216 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Split hand, Aplasia/Hypoplasia of the lungs, Abnormal antihelix mo... |
ORPHA:2145 |
Hemifacial Atrophy, Progressive |
|
Microtia, Patchy alopecia, Poliosis |
OMIM:141300 |
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
Hydrolethalus |
|
Absent septum pellucidum, Micromelia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Abn... |
ORPHA:2189 |
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication |
|
Hip dysplasia, Talipes equinovarus |
ORPHA:238578 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney, Upslanted palpeb... |
OMIM:613680 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger,... |
ORPHA:306542 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Thick hair, Abnormal hair pattern, Long eyelashes, Generalized hirsutism, Thic... |
ORPHA:1514 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Trisomy 1Q |
|
Toe syndactyly, Anophthalmia, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect,... |
ORPHA:261344 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Microtia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
Monosomy 5P |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Epicanthus, Small hand, Downslanted palpebr... |
ORPHA:281 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Abnormality of cartilage of external ear, Abnormal eyelash morph... |
ORPHA:2399 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Ablepharon, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Absent ... |
OMIM:256520 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Upslanted palpebral fissure, Long palpebral fissure, Camptodactyly, Micro... |
OMIM:619694 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
Warburg Micro Syndrome 1 |
|
Ptosis, Overlapping toe, Cryptorchidism, Low-set ears, Facial hypertrichosis, Microphthalmia, Mac... |
OMIM:600118 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, ... |
ORPHA:1307 |
Schisis Association |
|
Encephalocele, Spina bifida, Microcephaly, Micromelia, Anencephaly |
ORPHA:63862 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Posteriorly rotated ears, Tapered finger, Small hand, Short foot, Microtia, Long eyel... |
OMIM:618089 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Toe syndactyly, Depressed nasal bridge, Micromelia, Mi... |
OMIM:241800 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Atrial septal defect, White forelock, Clino... |
ORPHA:2475 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Renal cyst, Hors... |
OMIM:612284 |
Jacobsen Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Hypospadias, Abnormal eyelash morphology, Optic atrophy, Nasolac... |
OMIM:147791 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Mi... |
ORPHA:2994 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Short 2nd finger, Broad hallux, Sandal gap, Ventricular septal defect... |
OMIM:600987 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Sho... |
OMIM:132450 |
Blepharocheilodontic Syndrome 1 |
|
Lagophthalmos, Ectropion of lower eyelids, High anterior hairline, Cutaneous syndactyly, Euryblep... |
OMIM:119580 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Broad hallux, Posteriorly rotated ears, Recurrent pneumonia, Microtia, Low-... |
OMIM:619314 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Charlie M Syndrome |
|
Finger syndactyly, Abnormal fingernail morphology, Split hand, Triphalangeal thumb, Abnormal meta... |
ORPHA:1406 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Short palm, Synostosis of carpal bones, Encephalocele, Depressed nasal brid... |
ORPHA:90652 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Abnormal size of the palpebral fissures, Microcornea, Anterior synechiae of the anterior chamber,... |
ORPHA:3214 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Ventricular septal defect, Supernumerary nipple, Sparse eyebrow, 3-4 finger cutaneous... |
OMIM:612530 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal hip bone... |
ORPHA:916 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Prominent nasal bridge, Optic nerve hypoplasia, Microcephaly, Hydro... |
OMIM:243605 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Prieto Syndrome |
|
Coxa valga, Prominent nose, Cerebral atrophy, Patellar subluxation, Talipes equinovarus, Radial d... |
OMIM:309610 |
6Q16 Microdeletion Syndrome |
|
Abnormal ear morphology, Tapered finger, Microtia, Low-set ears, Thick eyebrow |
ORPHA:171829 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Peho-Like Syndrome |
|
Ventriculomegaly, Tapered finger, Lissencephaly, Hypoplasia of the corpus callosum, Short nose, P... |
OMIM:617507 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Depressed nasal bridge, Talipes equinovarus |
ORPHA:85288 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Hypoplasi... |
ORPHA:1035 |
Limb Body Wall Complex |
|
Encephalocele, Duplication of hand bones, Depressed nasal bridge, Choanal atresia, Spina bifida, ... |
ORPHA:2369 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly, Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal hair pattern, Synophrys, Genu valgum, Low posterior h... |
ORPHA:2983 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Clinodactyly of the 5th finger, Heari... |
ORPHA:376 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Depressed nasal bridge, Sandal gap, Micromelia, Bifid humerus, Flat acetabular ... |
OMIM:256050 |
Spastic Paraplegia 33, Autosomal Dominant |
|
Ankle clonus, Talipes equinovarus |
OMIM:610244 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, 1-4 toe sy... |
OMIM:617201 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Metatarsus adductus, Recurrent upper respiratory tract infections, Microtia, Absent an... |
ORPHA:293939 |
Momo Syndrome |
|
Epicanthus, Underfolded helix, Hyperconvex nail, Bilateral microphthalmos, Femoral bowing, Large ... |
ORPHA:2563 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Telecanthus |
OMIM:300484 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph... |
ORPHA:2872 |
Ciliary Dyskinesia, Primary, 40 |
|
Right aortic arch, Patent ductus arteriosus, Interrupted inferior vena cava with azygous continua... |
OMIM:618300 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, M... |
ORPHA:1508 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Ventric... |
ORPHA:505237 |
Joubert Syndrome 40 |
|
Almond-shaped palpebral fissure, Postaxial polydactyly |
OMIM:619582 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Muscular dystrophy |
OMIM:614830 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Lacrimal duct atresia, Split foot, Hypoplastic nipples, Na... |
OMIM:603543 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Woolly hai... |
OMIM:234050 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Atelis Syndrome 1 |
|
Glue ear, Ventricular septal defect, Bronchiectasis, Microtia, Atrial septal defect, Irregular hy... |
OMIM:620184 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Epicanthus, Telecanthus, Hearing impairment, External ear malformation, Abnorm... |
ORPHA:1252 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Epicanthus, Overfolded helix, Low-set ears, Clinodactyly, Hearing impairment |
ORPHA:251046 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Secundum atrial septal defect, Abnormal 5th finger morphology, Dystrophic toenail, Mi... |
ORPHA:1439 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Tarp Syndrome |
|
Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... |
OMIM:311900 |
Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Epicanthus, Rocker bottom foot, Highly arched eyebrow, Underdeveloped... |
OMIM:618804 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar deviation of t... |
OMIM:618291 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Tapered finger, Synophrys, Hip dysplasia, Microtia, Pulmonic stenosis, Umbilica... |
OMIM:616977 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Craniosynostosis, Underdeveloped nasal alae, Hydrocephalus, Wide nasal bridge, H... |
ORPHA:1516 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Hearing impairment, Atelectasis, White hair, Abnormal finger morphology,... |
ORPHA:896 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Short metatarsal, 2-3 toe sy... |
ORPHA:1540 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... |
ORPHA:93320 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Posteriorly rotated ears, Widow's peak, Hand polydactyly, Low-set ears,... |
OMIM:239710 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Adams-Oliver Syndrome |
|
Absent fingernail, Sparse hair, Pulmonary artery atresia, Encephalocele, Finger syndactyly, Alope... |
ORPHA:974 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus, Megalencephaly |
OMIM:155350 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Lacrimal duct stenosis, Sparse eyebrow, Crypto... |
ORPHA:73246 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Posteriorly rotated ears, Epicanthus, Short hallux, ... |
ORPHA:3224 |
Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis |
OMIM:614845 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
|
Flat occiput, Depressed nasal bridge, Microcephaly, Congenital knee dislocation, Bilateral talipe... |
ORPHA:319332 |
Gracile Bone Dysplasia |
|
Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Micropenis, Brachydactyly |
OMIM:602361 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Talipes, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar h... |
OMIM:225790 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal d... |
ORPHA:2969 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Abnormally large globe, Cardiomegaly, Shoulder dislocation, Atrial septal ... |
OMIM:245600 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Talipes equinovarus, Hypoplasia of the corpus callosum |
OMIM:613162 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Limbal dermoid, Microtia, Upper eyelid coloboma |
ORPHA:398156 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Talipes equinovarus |
ORPHA:85338 |
Adenylosuccinate Lyase Deficiency |
|
Hypointensity of cerebral white matter on MRI, Flat occiput, Anteverted nares, Microcephaly, Brac... |
ORPHA:46 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Brachydactyly, Split hand, Macrotia, Sparse body hair, Aplasia/Hypop... |
ORPHA:2850 |
Mycophenolate Mofetil Embryopathy |
|
Ectopic kidney, Eyelid coloboma, Foot polydactyly, Chorioretinal coloboma, Short palm, Microphtha... |
ORPHA:268249 |
17Q12 Microduplication Syndrome |
|
Microphthalmia, Toe syndactyly, Finger syndactyly, Synophrys |
ORPHA:261272 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Patellar hypoplasia, Low-set ears, At... |
OMIM:619189 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Congenital hip dislocation, Coxa valga, Lagophthalmos... |
ORPHA:404454 |
Kagami-Ogata Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coxa valga, Long fingers, Microtia, Pulmonary hy... |
OMIM:608149 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Radioulnar dislocation, ... |
ORPHA:2741 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Agenesis of corpus callosum, Iris coloboma, Dandy-Walker malformation, S... |
OMIM:249000 |
Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Hitchhiker thumb, Single transverse palmar crease, Spina bifid... |
ORPHA:2437 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Frontal bossing, Agenesis of cerebellar vermis, Depressed nasal bridge,... |
OMIM:220220 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Eem Syndrome |
|
Finger syndactyly, Absent eyebrow, Sparse scalp hair, Abnormality of retinal pigmentation, Ectrod... |
ORPHA:1897 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney |
OMIM:601076 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Tapered finger, Abnormal antihelix morphology, Large earlobe, Low-set ears, Microphth... |
ORPHA:1438 |
Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair, Tapered finger |
ORPHA:85274 |
Joubert Syndrome 16 |
|
Encephalocele, Renal cyst, Coloboma, Polydactyly, Nephronophthisis, Dandy-Walker malformation |
OMIM:614465 |
Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Long eyelashes, Short palm,... |
OMIM:102370 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Talipes, Camptodactyly of finger, Microcephaly, Hypoplasia of the corpus callos... |
ORPHA:1495 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Recurrent patellar dislocation, Capitate-hamate fusion, Short... |
OMIM:614078 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
Distal Duplication 18Q |
|
Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Arachnodactyly, C... |
ORPHA:1716 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hypoplastic scapulae, Bowing of the legs, Short toe, Hydrocephalus, Anencephaly, Bro... |
OMIM:269860 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Epicanthus, Overlapping toe, Unilateral renal agenesis, Renal hypoplasia, Hip dysplasia, Prominen... |
OMIM:618494 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris |
ORPHA:169090 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic... |
ORPHA:1553 |
Temple-Baraitser Syndrome |
|
Broad hallux, Hypoplastic thumbnail, Proximal placement of thumb, Absent nail of hallux, Adducted... |
OMIM:611816 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of finger, Elbow... |
OMIM:619110 |
Familial Dysautonomia |
|
Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Corneal opacity, Abnormality of the... |
ORPHA:1764 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Synophrys, Atrial septal defect, Pulmonary artery atresia, Patent foramen... |
OMIM:618316 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, Abnormal finger morphology, Ra... |
ORPHA:436003 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Microcephaly, Hypoplastic... |
OMIM:613330 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... |
OMIM:613154 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr... |
OMIM:605282 |
Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
Summitt Syndrome |
|
Finger syndactyly, Epicanthus, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of ... |
ORPHA:3210 |
Congenital Hydrocephalus |
|
Frontal bossing, Abnormal cortical gyration, Bulbous nose, Hydrocephalus, Small cerebral cortex, ... |
ORPHA:2185 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy... |
OMIM:604213 |
Alkuraya-Kucinskas Syndrome |
|
Hypoplasia of the brainstem, Micropenis, Dandy-Walker malformation, Depressed nasal bridge, Antev... |
OMIM:617822 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Talipes equinovarus, Upper limb amyotrophy |
ORPHA:99940 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Microcephaly |
ORPHA:293 |
Developmental And Epileptic Encephalopathy 36 |
|
Anteverted nares, Microcephaly, Hydrocephalus, Small hand, Cerebral atrophy |
OMIM:300884 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Absent thumb, Short thumb, Conductive hearing impairment, Hypoplasia of the radius, 2-... |
OMIM:603467 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
Joubert Syndrome 10 |
|
Epicanthus, Downslanted palpebral fissures, Postaxial polydactyly |
OMIM:300804 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
2-3 toe syndactyly, Abnormal heart morphology, Small thenar eminence, Microtia, Short 5th finger,... |
OMIM:239800 |
Kleeblattschaedel |
|
Hydrocephalus, Cloverleaf skull, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Corneal opacity, Camptodactyly of finger, Abnormal eyelid morphology, Abnormality ... |
ORPHA:1794 |
Chopra-Amiel-Gordon Syndrome |
|
Almond-shaped palpebral fissure, Upslanted palpebral fissure, Unilateral renal agenesis |
OMIM:619504 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Anophthalmia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Bilater... |
OMIM:601186 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Spinal dysraphism, Calvarial skull defect |
ORPHA:1114 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis, Mydriasis |
OMIM:619365 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Microcephaly, Wide nasal bridge, Short middle phalanx of finger, Talipes equinovarus... |
OMIM:612626 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Chorioretinal coloboma, Ab... |
ORPHA:3265 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Microtia |
OMIM:612138 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Single transverse palmar crea... |
OMIM:613443 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with... |
OMIM:613751 |
Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal... |
OMIM:101600 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Congenital hip dislocation, Unilateral renal agenesis, Renal ... |
OMIM:609029 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly |
OMIM:614970 |
Momo Syndrome |
|
Epicanthus, Underfolded helix, Hyperconvex nail, Large hands, Eyelid coloboma, Short sternum, Dow... |
OMIM:157980 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Hydrocephalus, Tetralogy of Fallot,... |
ORPHA:1926 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding, Brachydactyly |
OMIM:619692 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Retinal detachment, Cataract, Broad hallux, Limited elbow extension, Shor... |
ORPHA:1856 |
Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Sensorineural hearing impairment, C... |
OMIM:194350 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5... |
ORPHA:84 |
Marfan Syndrome |
|
Aortic regurgitation, Retinal detachment, Cataract, Arachnodactyly, Protrusio acetabuli, Tricuspi... |
OMIM:154700 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Split foot |
OMIM:183700 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Prominent nose, Hypoplasia of the pons, Microcephaly, Partial agenesis of the corpus callosum, Si... |
OMIM:616171 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Posteriorly rotated ears, Tapered finger, Sparse eyebrow, Protruding ear, Microtia, Hypoplastic l... |
OMIM:618829 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Single transverse palmar crease, Unilateral renal agenesis, Rocker bot... |
OMIM:619951 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Ulnar deviation of the hand, Corneal opacity, Proteinuria, Wrist swelling, S... |
OMIM:166300 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Arthrogryposis, Distal, Type 2E |
|
Joint contracture of the hand, Foot joint contracture, Talipes equinovarus, Microcephaly |
OMIM:121070 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Hydrocephalus, Mitral valve prolapse, Low posterior hairl... |
ORPHA:2183 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Posteriorly rotated ears, Preaxial hand polydactyly, Eye... |
ORPHA:2211 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly |
OMIM:172880 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Rhizomelia, Postaxial polydactyly, Prominent nose, Squared iliac bone... |
OMIM:616300 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Abnormal... |
ORPHA:969 |
Nescav Syndrome |
|
Talipes equinovarus, Cerebral atrophy, Microcephaly |
OMIM:614255 |
Joubert Syndrome 24 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Cerebellar hypoplasia, Talipes equinovaru... |
OMIM:616654 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... |
OMIM:210720 |
Temtamy Syndrome |
|
Frontal bossing, Pes planus, Convex nasal ridge, Hip dislocation, Thick corpus callosum, Short 2n... |
OMIM:218340 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Deviation of the 5... |
OMIM:616362 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh... |
ORPHA:2714 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Absent lower eyelashes, Foot oligodactyl... |
OMIM:154400 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Atrial septal defect, Anophthalmia, Aplastic clavicle, Abnorma... |
ORPHA:2538 |
Diprosopus |
|
Anencephaly, Abnormality of the nose |
ORPHA:1681 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Bilateral microphthalmos, Upper e... |
OMIM:154500 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact... |
OMIM:272440 |
Bresek Syndrome |
|
Alopecia, Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polydactyly, Protruding ear, Low-... |
ORPHA:85284 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Ptosis, Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, ... |
OMIM:110100 |
Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Camptodactyly, Overlapping finge... |
OMIM:618436 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
Vacterl/Vater Association |
|
Occipital encephalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hy... |
ORPHA:887 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Abnormality of the e... |
OMIM:225060 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Single transverse palmar crease, Low anterior hairline, Protruding ear, Narrow palpebra... |
OMIM:614219 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Microcornea, Telecanthus, Posterior subcapsular cataract, Chorioretinal degeneration |
OMIM:615458 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Multicystic kidney dysplasia, Cataract, Finger syndactyly, Toe syndactyly, ... |
ORPHA:2308 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... |
OMIM:211960 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Overlapping toe, Proximal placement of thumb, Unilateral renal agenesis, Tapered fin... |
OMIM:616737 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Frontal bossing, Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal,... |
ORPHA:1278 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Prominent nasal bridge, Underdeveloped nasal alae, Elbow flexion co... |
OMIM:277720 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Frontal bossing, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplas... |
ORPHA:163966 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Cataract, Telecanthus, Abnormality of t... |
ORPHA:2036 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Microcephaly, Hip dysplasia, Hypoplasia of the corpus callosum, Short nose, ... |
OMIM:618379 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Talipes equinovarus, Peroneal muscle atrophy |
OMIM:181400 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... |
ORPHA:2370 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Prominent nose, Delaye... |
OMIM:210710 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... |
OMIM:227010 |
Atelosteogenesis, Type Iii |
|
Frontal bossing, Radial bowing, Rhizomelia, Depressed nasal bridge, Sandal gap, Elbow dislocation... |
OMIM:108721 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Agenesis of corpus callosum, Hydrocephalus, Rhizomelia |
OMIM:166990 |
Tukel Syndrome |
|
Syndactyly, Ptosis, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone ap... |
OMIM:609428 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Microcephaly, Hydrocephalus, Cortical dysplasia, Ventriculomegaly, Abnormal corpus callosum morph... |
OMIM:618709 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Overfolded helix, Large fleshy ears, Upslanted palpebral fissure, Low... |
OMIM:619092 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Thick eyebrow, Ventricular septal defect, Single transverse pal... |
OMIM:618950 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Protrudi... |
OMIM:190351 |
Braddock Syndrome |
|
Blepharophimosis, Epicanthus, Unilateral renal agenesis |
ORPHA:52047 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr... |
ORPHA:93932 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Polydactyly, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615993 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Optic atrophy, Ivory epiphyses of the phalanges of the hand, De... |
OMIM:133540 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Death in childhood, Melanin pigment... |
OMIM:607624 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Choroidal neovascularization, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephri... |
ORPHA:91500 |
Hemifacial Microsomia With Radial Defects |
|
Microtia, Atresia of the external auditory canal, Triphalangeal thumb, Conductive hearing impairm... |
OMIM:141400 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Congenital hip dislocation, Talipes equinovarus, Recurrent sinusitis |
OMIM:130010 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gi... |
ORPHA:1788 |
Neuroectodermal Melanolysosomal Disease |
|
Recurrent respiratory infections, Hypopigmentation of hair, Generalized hyperpigmentation, Premat... |
ORPHA:33445 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Cataract, Bowing of the long bones, Abnormal ... |
ORPHA:564 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Decreased CSF glutamine concentration, Eryt... |
OMIM:610015 |
Lissencephaly 8 |
|
Occipital encephalocele, Ventriculomegaly, Microcephaly, Hypoplasia of the brainstem, Talipes equ... |
OMIM:617255 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Cataract, Rhegmatog... |
ORPHA:891 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Abnormal occipital bone morphology, ... |
ORPHA:63259 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia |
OMIM:601163 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Hydrocephalus, Autosomal Dominant |
|
Dandy-Walker malformation, Hydrocephalus, Cerebellar vermis hypoplasia, Sagittal craniosynostosis |
OMIM:123155 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Anteverted nares, Hydrocephalus, Brachycephaly, Midfa... |
ORPHA:1532 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Hand polydactyly, Pulmonic stenosis, Atrial septal defect, Abnormal 3r... |
OMIM:249670 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Rocker bottom foot, Trigonocephaly, Microcephaly, Delayed eruption of permanent... |
OMIM:618506 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormal palmar dermatoglyphics, Heart murmur, Microtia, Recurrent otitis media, Atrial septal de... |
ORPHA:2728 |
2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Anteverted nares, Prominent nasal bridge, Arachnodactyly, Microcephaly, Bra... |
ORPHA:251019 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Frontal bossing, Sandal gap, Camptodactyly of finger, Do... |
ORPHA:1520 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... |
OMIM:151200 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly |
OMIM:613819 |
Emanuel Syndrome |
|
Congenital hip dislocation, Hooded eyelid, Unilateral renal agenesis, Renal hypoplasia, Upslanted... |
ORPHA:96170 |
Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Anophthalmia, Congenital hip dislocation, Brittle hair, Os... |
OMIM:305600 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Macular hypoplasia, Blue irides, Albinism |
OMIM:606574 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Posteriorly rotated ears, Mitral valve prolapse, Fine hair, Low-set e... |
OMIM:615278 |
Williams-Beuren Region Duplication Syndrome |
|
Long eyelashes, Hydronephrosis, Unilateral renal agenesis, Horizontal eyebrow |
OMIM:609757 |
Pentalogy Of Cantrell |
|
Encephalocele, Hypospadias, Talipes, Abnormal tibia morphology, Split hand, Anencephaly, Hydrocep... |
ORPHA:1335 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed nasal r... |
ORPHA:1248 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Agenesis of cerebellar vermis,... |
OMIM:614815 |
Marfan Syndrome |
|
Retinal detachment, Flat cornea, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ect... |
ORPHA:558 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Posteriorly rotated ears, Sparse eyelashes, Abnormal eyelid morphology, Small ... |
ORPHA:1787 |
Verheij Syndrome |
|
Branchial cyst, Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, Microcephaly, Clinodac... |
OMIM:615583 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Flexion contracture of finger, Optic disc pallor, Corne... |
ORPHA:464311 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Single transverse palmar crease, Microcephaly, Hand clenching, Cerebral atrop... |
OMIM:611890 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Long fingers, Hip dislocation, Hip dysplasia... |
ORPHA:447980 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Vesicoureteral reflux, Hypospadias, Arachnodactyly, Renal hypoplasia,... |
ORPHA:567 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Attenuation of retinal blood vessels, Retinal detachment, Optic dis... |
OMIM:267750 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Frontal bossing, Cerebellar vermis hypoplasia, Prominent nasal... |
ORPHA:2754 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Microcephaly, Brachycephaly, Dolichocephaly... |
OMIM:617752 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Genu valgum |
ORPHA:1381 |
Baraitser-Winter Syndrome 2 |
|
Ptosis, Telecanthus, Abnormal pinna morphology, Highly arched eyebrow, Long palpebral fissure, Mi... |
OMIM:614583 |
Constricting Bands, Congenital |
|
Syndactyly, Eyelid coloboma, Hand polydactyly, Talipes equinovarus, Bladder exstrophy |
OMIM:217100 |
Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Synophrys, Clinodactyly of the 5th finger, Short phalanx of finger, General... |
OMIM:605130 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Proximal placement of thumb, Blepharophimosis, Low anterior hairline, Upslanted palpe... |
OMIM:617883 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Craniosynostosis, Broad nasal tip, Hip dislocation, Wide nasal bridge,... |
OMIM:619451 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Pes cavus, Talipes equinovarus, Upper limb amyotrophy |
OMIM:617087 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hearing impairm... |
ORPHA:794 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair, Protruding ear |
OMIM:278200 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... |
OMIM:613265 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Arachnodactyly, Brachycephaly, Cerebral atrophy, Bilateral talipes equinovarus, ... |
OMIM:615539 |
Wound Botulism |
|
Ptosis, Urinary retention, Cardiac arrest, Mydriasis |
ORPHA:178475 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Abnormal pinna morphology, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly,... |
ORPHA:158687 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Cataract, Hypospadias, Hydroureter, Camptodactyly of finger, Renal hypoplasia/... |
ORPHA:568 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Large hands, Broad nasal tip |
ORPHA:85287 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia |
ORPHA:2470 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati... |
ORPHA:171844 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cataract, Unilateral renal agenesis, Ectopic kidney, Clinodactyly, Dilated cardiomyopathy, Renal ... |
OMIM:616541 |
Coach Syndrome 1 |
|
Optic disc pallor, Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal... |
OMIM:216360 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Microtia, third degree, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasi... |
ORPHA:3412 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Abn... |
ORPHA:93267 |
Cockayne Syndrome Type 3 |
|
Microcornea, Lentiglobus, Retinal degeneration, Retinal atrophy, Renal hypoplasia, Cardiomyopathy... |
ORPHA:90324 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metacarpal, Brachydactyly, Rhizomelia, Posteriorly rotated ears, Short metatarsal, Small ha... |
OMIM:614813 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Congenital ptosis, Ectopia lentis |
OMIM:110150 |
5Q14.3 Microdeletion Syndrome |
|
Agenesis of cerebellar vermis, Toe syndactyly, Anteverted nares, Optic nerve hypoplasia, Hypoplas... |
ORPHA:228384 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge... |
OMIM:619721 |
Iatrogenic Botulism |
|
Ptosis, Orthostatic hypotension, Urinary retention, Mydriasis |
ORPHA:254509 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect, Abnormal morphology of the radius |
ORPHA:3469 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Femoral-Facial Syndrome |
|
Short femur, Long penis, Coxa vara, Abnormal fibula morphology, Aplasia/Hypoplasia of the corpus ... |
ORPHA:1988 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Lens coloboma, Cupped ear, 2-3 toe syndactyly, Small thenar eminence, Umbilical herni... |
OMIM:618914 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Frontal bossing, Depressed... |
ORPHA:166272 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair,... |
ORPHA:1818 |
Congenital Disorder Of Glycosylation, Type Id |
|
Depressed nasal bridge, Microcephaly, Long fingers, Bulbous nose, Wide nasal bridge, Cerebral atr... |
OMIM:601110 |
Miller-Dieker Syndrome |
|
Anteverted nares, Lissencephaly, Hypoplasia of the corpus callosum, Clinodactyly of the 5th finge... |
ORPHA:531 |
Holt-Oram Syndrome |
|
Finger syndactyly, Atrial septal defect, Paroxysmal atrial fibrillation, Ventricular septal defec... |
ORPHA:392 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Curly eyelashes, Hypoplastic ili... |
OMIM:611717 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Narrow palm, Small hand, Short foot, Abn... |
ORPHA:177910 |
Catifa Syndrome |
|
Microtia, Camptodactyly |
OMIM:618761 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Depressed nasal bridge, Microcephaly, Finger clinodactyly, Talipes equinovarus, Clinodactyly of t... |
OMIM:611182 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level... |
ORPHA:29072 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Renal insufficiency, Toe syndactyly, Renal agenesis, Retinal dystrophy, Tel... |
ORPHA:140952 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Wide nasal bridge |
OMIM:209970 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Small hypothenar eminence, Small thenar eminence, Talipes equinovarus, Distal lower limb muscle w... |
OMIM:609311 |
Fg Syndrome 3 |
|
Death in infancy, Broad hallux, Sensorineural hearing impairment, Fine hair, Frontal upsweep of h... |
OMIM:300406 |
Pontocerebellar Hypoplasia, Type 11 |
|
Pes planus, Microcephaly, Hypoplasia of the pons, Bulbous nose, Coloboma, Talipes equinovarus, Hy... |
OMIM:617695 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Posteriorly rotated ears, Hyperconvex nail, Tapered finge... |
OMIM:613870 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Frontal bossing, Short femur, Limited interphalangeal movement, Limited e... |
OMIM:147750 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia, Multiple cafe-au-lait spots |
OMIM:614082 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Single transverse palmar crease, Supernumerary nipple, Sparse eyebrow, Synophrys, 2-3... |
OMIM:620098 |
Erythema Of Acral Regions |
|
Erythema, Talipes equinovarus |
OMIM:227000 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Coffin-Siris Syndrome 5 |
|
Sparse scalp hair, Thick eyebrow, Sandal gap, Arachnodactyly, Hypoplastic toenails, Low anterior ... |
OMIM:616938 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Retinal pigment ... |
OMIM:617102 |
Hyperekplexia 4 |
|
Cerebral atrophy, Talipes equinovarus, Camptodactyly, Umbilical hernia, Adducted thumb |
OMIM:618011 |
2Q31.1 Microdeletion Syndrome |
|
Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterior hairline, Short palm, Cl... |
ORPHA:251014 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ... |
ORPHA:99050 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Frontal bossing, Rhizomelia, Metaphyseal cupping, Hydrocephalus, Depressed nasal ridge, Metaphyse... |
OMIM:300863 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus, Wide nasal bridge, Cerebral atrophy, Bilateral talipes equinovarus, Wide nasal bas... |
OMIM:616521 |
Nicolaides-Baraitser Syndrome |
|
Short palm, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, ... |
ORPHA:3051 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Depressed nasal bridge, Megalencephaly, Abnormal nasal morphology, Postaxial hand polydactyly, Hy... |
ORPHA:83473 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Recurrent shoulder dislocation, Down-sloping shoulders, Dilated cardi... |
OMIM:212112 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Pes planus, Single transverse palmar crease, Prominent nasal bridge, Broad nasal tip, Microcephal... |
OMIM:613544 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Transposition of the great arteries, Low-set ears,... |
OMIM:619910 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Alopecia, Abnormality of the elbow, Hip dis... |
ORPHA:1005 |
Oculoectodermal Syndrome |
|
Epicanthus, Transient ischemic attack, Chorioretinal atrophy, Microcornea, Eyelid coloboma, Astig... |
OMIM:600268 |
Limb-Mammary Syndrome |
|
Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse eyebrow, 3-4 finger cutaneous syndact... |
ORPHA:69085 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Absent septum pellucidum, Abnormal cortical gyration, Preaxial hand polydactyly, Pos... |
OMIM:236680 |
Meacham Syndrome |
|
Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Partial anomalous pulmonary venous ... |
OMIM:608978 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Optic disc pallor, Aortic regurgitation, Toe syndactyly, Corneal opacity, Hypospad... |
ORPHA:464306 |
Holoprosencephaly 5 |
|
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Microcephaly... |
OMIM:609637 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Short femoral neck,... |
OMIM:617396 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro... |
OMIM:108120 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Prominent nose, Cerebral atrophy, Finger clinodactyly, Patellar subluxation, Bilatera... |
ORPHA:2958 |
Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Tapered finger, Prominent nose, Long fingers, Bulbous nose, Secondary microcephaly, Talipes equin... |
OMIM:617773 |
Urban-Rogers-Meyer Syndrome |
|
Epicanthus, Toe syndactyly, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypoplasia of the ea... |
ORPHA:3409 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Microcephaly, Hip dislocation, Patellar hypoplasia, Short... |
ORPHA:1326 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Squalene Synthase Deficiency |
|
Epicanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Bilateral cryptorchidism, Elbow fle... |
OMIM:618156 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microp... |
OMIM:615145 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ptosis, Abnormal distal phalanx morphology of finger, Ep... |
ORPHA:783 |
Martsolf Syndrome 1 |
|
Osteopathia striata, Low anterior hairline, Finger joint hypermobility, Short palm, Abnormal toen... |
OMIM:212720 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Reduced cerebral white matter volume, Hydrocephalus, Hypoplasia of the brainstem, Bilateral talip... |
OMIM:618174 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Plagiocephaly, Coloboma, Ta... |
OMIM:616789 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Epicanthus, Hypospadias, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Abnormal finger flexion crease, Conductive hearing impairment, Short me... |
ORPHA:2980 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Neonatal death, Absent fingernail, ... |
OMIM:609638 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Epicanthus, Rhizomelia, Abnormal fingernail morphology, Abnorma... |
ORPHA:1515 |
Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Fibular hypoplasia, Radi... |
OMIM:164900 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Highly arched eyebrow, Short thumb, Hyp... |
ORPHA:2319 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
Diastrophic Dysplasia |
|
Hip contracture, Flattened epiphysis, Ulnar deviation of finger, Genu valgum, Irregular epiphyses... |
OMIM:222600 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Sparse eyelashes, Sparse eyebrow, Microtia, Abnormality of the hairline |
ORPHA:370079 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho... |
ORPHA:750 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Cryptorchidism, Prot... |
ORPHA:2256 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Aortic valve prolapse, Ventricular septal defect, Posteriorly rotated ears, Small han... |
OMIM:619980 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Sensorineural... |
ORPHA:2885 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Broad nasal tip, Bifid nasal tip, Meningocele, Choroid plexus cyst, Brachycephaly,... |
ORPHA:1827 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... |
OMIM:272950 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Weill-Marchesani Syndrome 3 |
|
Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Aortic valve sten... |
OMIM:614819 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Sensorine... |
OMIM:618652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, H... |
OMIM:613153 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... |
OMIM:152950 |
Microcephaly 6, Primary, Autosomal Recessive |
|
Microtia |
OMIM:608393 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Lacrimal duct atresia, Iris coloboma |
ORPHA:139450 |
Joubert Syndrome 37 |
|
Posteriorly rotated ears, Postaxial polydactyly, Cryptorchidism, Low-set ears, Sparse hair, Micro... |
OMIM:619185 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Proximal placement of thumb, Preaxial hand polydactyly, Conductive hea... |
OMIM:610536 |
Monosomy 18P |
|
Ptosis, Alopecia, Epicanthus, Protruding ear, Low posterior hairline, Abnormal antihelix morpholo... |
ORPHA:1598 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Postaxial polydactyly, Complete atrioventricular canal defect, Short t... |
OMIM:617925 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Rocker bottom foot, Death in childhood, Sparse hair, Microphthalmia, Hea... |
OMIM:610756 |
Intestinal Botulism |
|
Ptosis, Mydriasis |
ORPHA:178481 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Brachycephaly, Clinodactyly of the 5th finger,... |
OMIM:201000 |
Frontal Encephalocele |
|
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... |
ORPHA:1931 |
Edinburgh Malformation Syndrome |
|
Frontal bossing, Anteverted nares, Choanal atresia, Long fingers, Hydrocephalus, Ulnar deviation ... |
ORPHA:1895 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Laterally curved eyebrow, Atrial sep... |
OMIM:300166 |
Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Hand oligodactyly, Anisoc... |
ORPHA:45358 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Meningocele, Renal cys... |
ORPHA:2031 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Pes planus, Achilles tendon contracture, Decreased patellar re... |
OMIM:615290 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl... |
OMIM:119800 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Short corpus callosum, Brachycephaly, Talipes equinovarus, Lateral ventricle dilatation |
OMIM:619972 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Microcephaly, Hip dislocation, Cerebral atrophy, Talipes equinovarus, Hypoplasia of the corpus ca... |
OMIM:616756 |
Toxin-Mediated Infectious Botulism |
|
Ptosis, Mydriasis |
ORPHA:230800 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp... |
ORPHA:3104 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Heterotaxy, Visceral, 6, Autosomal |
|
Right aortic arch, Double outlet right ventricle, Total anomalous pulmonary venous return, Transp... |
OMIM:614779 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Depressed nasal bridge, Single transverse palmar crease, Equinov... |
OMIM:609128 |
Pseudodiastrophic Dysplasia |
|
Frontal bossing, Rhizomelia, Anteverted nares, Phalangeal dislocation, Elbow dislocation, Brachyc... |
OMIM:264180 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Low posterio... |
OMIM:220210 |
Gorlin Syndrome |
|
Frontal bossing, Cerebral calcification, Arachnodactyly, Palmar pits, Hydrocephalus, Plantar pits... |
ORPHA:377 |
Al-Raqad Syndrome |
|
Sandal gap, Low-set ears, Atrial septal defect, Hypopigmentation of the skin, Brachydactyly |
OMIM:616459 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Frontal bossing, Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Foot polyda... |
ORPHA:210548 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Camptodactyly of finger, Sensorineural hea... |
ORPHA:1466 |
Meier-Gorlin Syndrome 8 |
|
Microtia, Low-set ears |
OMIM:617564 |
Xq27.3Q28 Duplication Syndrome |
|
Short foot, Small hand, Sparse body hair |
ORPHA:261483 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dislocation, M... |
ORPHA:2557 |
Oculofaciocardiodental Syndrome |
|
Highly arched eyebrow, Cubitus valgus, Short thumb, Sensorineural hearing impairment, 2-3 toe syn... |
ORPHA:2712 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Pes planus, Elbow flexion contracture, Knee flexion contracture, Talipes equinov... |
OMIM:600175 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Retinal detachment, Telangiectas... |
ORPHA:1556 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Epicanthus, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absen... |
OMIM:617641 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Ventriculomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, H... |
ORPHA:163961 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism, Simple ear |
OMIM:619318 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler... |
ORPHA:284160 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Redundant skin, Microme... |
ORPHA:93274 |
Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
Orofaciodigital Syndrome Iv |
|
Epicanthus, Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short fing... |
OMIM:258860 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Renal dysplasia, Absent eyebrow, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unila... |
OMIM:308205 |
Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Highly arched eyebrow, Cryptorchidism, Ulnar bowing, Shortening of all di... |
OMIM:619135 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormal pinna morphology, Ventricular septal defect, Pulmonary artery st... |
ORPHA:75389 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Posteriorly rotated ears, Sparse eyebrow, Short thu... |
OMIM:300895 |
Myhre Syndrome |
|
Hypoplastic iliac wing, Atrial septal defect, Sparse hair, Pericardial effusion, Short toe, 2-3 t... |
OMIM:139210 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Talipes equinovarus, Increased CSF lactate |
OMIM:613710 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Gand Syndrome |
|
Long toe, Long fingers, Sparse hair |
OMIM:615074 |
Shashi-Pena Syndrome |
|
Epicanthus, Highly arched eyebrow, Unilateral renal agenesis, Synophrys, Long eyelashes, Ptosis |
OMIM:617190 |
Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Redundant skin, Micromelia, Abnormal s... |
ORPHA:2655 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Enuresis |
ORPHA:289483 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Talipes equinovarus |
OMIM:208100 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Sandal gap, Postaxial polydactyly, Synophrys, Upslanted palpebral fissure, Broad dis... |
OMIM:615761 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Single transverse palmar crease, Frontal hirsutism, Macrotia, 2-3 toe syndactyl... |
ORPHA:3304 |
Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch |
OMIM:617577 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e... |
ORPHA:261323 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Ventriculomegaly, Duplication of thumb phalanx, Megalencephaly, Preaxial ha... |
OMIM:601707 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Epicanthus, Postaxial polydactyly, Unilateral renal agenesis, Optic atrophy, Hip dysplasia, Proxi... |
OMIM:614576 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Abnormality of the hand, Bilateral microphthalmos, Low ant... |
ORPHA:369891 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Ptosis, Rocker bottom foot, Proximal placement of thumb, Exudative vitreoretin... |
OMIM:619762 |
Non-Distal Duplication 10Q |
|
Frontal bossing, Depressed nasal bridge, Microcephaly, Brachycephaly, Short nose, Convex nasal ridge |
ORPHA:1695 |
Distal Triplication 15Q |
|
Arachnodactyly, Hydrocephalus, Cupped ear, Sensorineural hearing impairment, Abnormal heart morph... |
ORPHA:314588 |
Acrocallosal Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:36 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Microcephaly, Talipes equinovaru... |
ORPHA:85279 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Posteriorly rotated ears, Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, ... |
OMIM:610758 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Highly arched eyebrow, Cryptorchidism, Bilateral ptosis, Low anterior hair... |
ORPHA:404440 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Posteriorly rotated ears, Single transverse palmar crease, Synophrys, Noncommunicating hydrocepha... |
OMIM:619320 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Flexion contracture, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Mic... |
OMIM:613155 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, ... |
OMIM:615665 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hydrocephalus, Brachycephaly, Abnormal metacarpal... |
ORPHA:93262 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nas... |
ORPHA:2318 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis |
OMIM:618504 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Short nose, Midface retrusion... |
OMIM:618618 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Left-to-right shunt, Hypospadias, Abnormality of the kidney, ... |
ORPHA:363444 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Attenuation of retinal blood vessels, Cataract, Proteinuria, Glomerulonephritis, Rhizomelia, Shor... |
OMIM:614376 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... |
OMIM:614091 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Lacrimal duct stenosis, Unilateral renal agenesis, Renal steatosis, Lacrimal d... |
OMIM:113650 |
Atelosteogenesis, Type I |
|
Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Encephalocele, Short metacarpa... |
OMIM:108720 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Atrial septal defect, Tachycardia, Tapered finger, 2-3 toe syndactyly, Abnormal he... |
ORPHA:485405 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double-layered patel... |
ORPHA:93307 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Death in child... |
OMIM:253300 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Cerebral calcification |
ORPHA:99966 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Pes planus, Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hypo... |
OMIM:304100 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
Dihydropyrimidinase Deficiency |
|
Plagiocephaly, Abnormal cerebral white matter morphology, Uraciluria, Talipes equinovarus, Short ... |
OMIM:222748 |
Cohen Syndrome |
|
Abnormal eyelid morphology, Low anterior hairline, Abnormality of skin pigmentation, Clinodactyly... |
ORPHA:193 |
Fanconi Anemia, Complementation Group J |
|
Multiple cafe-au-lait spots, Microphthalmia, Short thumb |
OMIM:609054 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri... |
OMIM:615996 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Trichorhinophalangeal Syndrome, Type I |
|
Short metatarsal, Protruding ear, Cone-shaped epiphyses of the proximal phalanges of the hand, Sp... |
OMIM:190350 |
Achondroplasia |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Rhizomelia, Hip joint hypermobility, B... |
ORPHA:15 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Frontal bossing, Toe syndactyly, Microcephaly, Bulbous nose, Hydrocephalus,... |
ORPHA:250989 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Talipes equinovarus, Hypoplasia of the corpus callosum |
OMIM:615035 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Hypoplastic thumbnail, Finger clinodactyly, Pulmonary artery atr... |
ORPHA:1692 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Anteverted ears, Upslanted palpebral fissure, Narrow palpebral fissure, Sparse hair, ... |
OMIM:618087 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Medial flaring of the eyebrow, Cryptorchidi... |
ORPHA:110 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Microtia, Clinodactyly of the 5th ... |
OMIM:614851 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal pinna morphology, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alop... |
ORPHA:35173 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Abnor... |
ORPHA:363417 |
14Q11.2 Microdeletion Syndrome |
|
Short nose, Toe syndactyly, Depressed nasal bridge, Toe clinodactyly |
ORPHA:261120 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Highly arched eyebrow, Low-set ears, Atrial ... |
OMIM:616898 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Brachydactyly, Broad hallux, Prominent nasal bridge, Hypospadias, Tapered finger, ... |
OMIM:618659 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Iris atrophy, Unilateral renal agenesis, Short hallux, Highly arched e... |
OMIM:620305 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Ventricular septal defect, Hearing impairment, Bowing of the legs, Aplasia... |
OMIM:617063 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ... |
OMIM:143095 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Epicanthus, Cryptorchidism, Sensorineural hearing impairment, Protr... |
OMIM:614230 |
Isolated Anencephaly |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Microcephaly, Duplication of phalanx of hallux, Wide nasal bridge, Micropenis, ... |
OMIM:243310 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Abnormal foot morphology, H... |
OMIM:607596 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Overlapping toe, Highly arched eyebrow, Tapered finger, 2-3 toe syndactyly, Heart mur... |
OMIM:618653 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Hypospadias, Sparse eyebrow, Iris coloboma, Ptosis |
ORPHA:66629 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va... |
ORPHA:2831 |
3C Syndrome |
|
Death in infancy, Finger syndactyly, Frontal bossing, Depressed nasal bridge, Hypoplasia of penis... |
ORPHA:7 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Atrial septal defect, Ventricular septal defect, Short th... |
ORPHA:401935 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Craniotelencephalic Dysplasia |
|
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal en... |
ORPHA:1528 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Vascular ring, Abnormally large globe, Knee flexion contracture |
OMIM:603387 |
Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Posteriorly rotated ears, Tetralogy of Fallot, L... |
OMIM:179613 |
Achondrogenesis Type 1B |
|
Frontal bossing, Anteverted nares, Micromelia, Short foot, Talipes equinovarus, Umbilical hernia,... |
ORPHA:93298 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Frontal bossing, Depressed nasal bridge, Anteverted nares... |
OMIM:614105 |
Acrodysostosis |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r... |
ORPHA:950 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:244200 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Frontal bossing, Depressed nasal bridge, Anteverted nares, Hypos... |
ORPHA:96176 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Cerebral atrophy, Upper limb amyotrophy, Knee flexion co... |
ORPHA:496689 |
Kbg Syndrome |
|
Telecanthus, Single transverse palmar crease, Abnormal hair pattern, Cryptorchidism, Synophrys, C... |
ORPHA:2332 |
Noonan Syndrome 13 |
|
Atrial septal defect, Generalized hirsutism, Highly arched eyebrow, Tapered finger, Blue irides, ... |
OMIM:619087 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
Inhalational Botulism |
|
Ptosis, Urinary retention, Mydriasis |
ORPHA:254504 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Cryptorchidism, Limited elbow extension, Short metatarsal, Small ha... |
OMIM:180870 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Highly arched eyebrow, Synophrys, Palmoplantar hyper... |
ORPHA:3253 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip... |
ORPHA:79106 |
Noonan Syndrome 5 |
|
Curly hair, Thickened helices, Sparse eyebrow, Fine hair, Cafe-au-lait spot, Multiple lentigines,... |
OMIM:611553 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Single transverse palmar crease, Ventricular septal ... |
ORPHA:329224 |
Trisomy 4P |
|
Depressed nasal bridge, Camptodactyly of finger, Hypospadias, Microcephaly, Preaxial hand polydac... |
ORPHA:1738 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Coronal hypospadias, Brachycephaly, Ch... |
OMIM:619859 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Curly hair, Single transverse palmar crease, Sparse eyebrow, Sensorineural ... |
OMIM:620075 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp... |
ORPHA:1529 |
Noonan Syndrome 11 |
|
Atrial septal defect, Posteriorly rotated ears, Bilateral sensorineural hearing impairment, Pulmo... |
OMIM:618499 |
Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Talipes equinovarus, Rhizomelia, Phalangeal dislocation |
ORPHA:85174 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, High... |
ORPHA:2162 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Radial club hand, Aplasia/Hypoplasia affecting the eye, Hypoplas... |
ORPHA:3305 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Anteverted nares, Bulbous nose, Wide nasal base, Oligosacchariduria, T... |
OMIM:616354 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Coloboma, Type II lissencephaly |
ORPHA:324416 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of hair, Hypopigmentatio... |
OMIM:619165 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Preaxial polydactyly, Brachycephaly, Coxa vara, Knee flexion con... |
OMIM:614976 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Posteriorly rotated ears, Postaxial polydactyly, Highly... |
OMIM:614424 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... |
OMIM:618961 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Hand muscle weakness, Abnormal pupil morphology, Split hand, Anisocoria, Ham... |
ORPHA:90658 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Tapered finger, Synophrys, Fine hair, Microtia, Long eyelashes, Macrotia, Hearing impairment |
OMIM:620250 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Finger syndactyly, Toe syndactyly, Congenital hip dislocation, ... |
ORPHA:217346 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Sensorineural hearing impairm... |
ORPHA:53271 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Brachydactyly, Hypoplasia of penis, Prominent nasal bridge, Camptodactyly of finger, Underdevelop... |
ORPHA:2083 |
Faundes-Banka Syndrome |
|
Sparse scalp hair, Epicanthus, Hypoplastic toenails, Cryptorchidism, Cupped ear, Hypoplasia of th... |
OMIM:619376 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Frontal bossing, Depressed nasal bridge, Tapered finger, Wide nasal bridge,... |
OMIM:607131 |
Kapur-Toriello Syndrome |
|
Overlapping fingers, Ventricular septal defect, Single transverse palmar crease, Camptodactyly of... |
OMIM:244300 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the hand, Sparse hair, Uncombable hair, Short... |
ORPHA:1264 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Wide nasal ridge, Microcephaly, Bulbous nose, Talipes equinovarus, Hypoplasia of the corpus callo... |
OMIM:612936 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Abnormal optic chiasm morphology, Recurrent urinary tract infections, Cataract, Hy... |
ORPHA:268261 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Cerebral calcification, Spina bifida, Microcephal... |
ORPHA:1393 |
Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of finger |
OMIM:155050 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral patter... |
OMIM:619302 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Posteriorly rotated ears, H... |
ORPHA:264200 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... |
OMIM:615994 |
Aarskog-Scott Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Epicanthus, Single transverse palmar crease... |
ORPHA:915 |
Smith-Kingsmore Syndrome |
|
Frontal bossing, Rhizomelia, Depressed nasal bridge, Reduced cerebral white matter volume, Megale... |
OMIM:616638 |
Mehmo Syndrome |
|
Hypoplasia of penis, Microcephaly, Tapered finger, Talipes equinovarus, Micropenis |
ORPHA:85282 |
Cockayne Syndrome |
|
Urinary incontinence, Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Retinal... |
ORPHA:191 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,... |
ORPHA:163979 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... |
OMIM:203780 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Arachnodactyly, Camptodactyly of finger, Sensorineural hearing impairment, Coarse h... |
ORPHA:1883 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Synophrys, Low anterior hairline, Protruding ear, Atrial septal defe... |
OMIM:613458 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Avascular necrosis of the capital fe... |
ORPHA:77258 |
Weaver Syndrome |
|
Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Calcaneovalgus deformity,... |
OMIM:277590 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio... |
OMIM:605432 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flat occiput, Overlapping toe, Prominent nasal bridge, Down-sloping shoulders, Tapered finger, Mi... |
OMIM:617452 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Anteverted nares, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion c... |
OMIM:616266 |
Pallister-Hall Syndrome |
|
Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, L... |
ORPHA:672 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Cupped ear, Microtia, Low-set ears, Overfolded helix |
OMIM:609654 |
Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas... |
OMIM:169550 |
Acromesomelic Dysplasia 4 |
|
Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, Genu varum, Short me... |
OMIM:619636 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, Postaxial polydact... |
OMIM:605627 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Ankle flexion contracture, Craniosynostosis... |
ORPHA:284417 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Single transverse palmar crease, Conductive hearing impairment, Severe sensorineu... |
OMIM:620186 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Ectopic kidney, Hypoplasia of the radius, Renal... |
OMIM:212780 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Developmental And Epileptic Encephalopathy 91 |
|
Single transverse palmar crease, Reduced cerebral white matter volume, Cerebral atrophy, Talipes ... |
OMIM:617711 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Cornelia De Lange Syndrome |
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Micromelia, Proximal placement of thumb, Synophrys, Low anterior hairline, Atrial septal defect, ... |
ORPHA:199 |
Albinism, Oculocutaneous, Type Ii |
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Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
Lissencephaly 5 |
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Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Porencephalic cyst, Subcort... |
OMIM:615191 |
Glycine Encephalopathy With Normal Serum Glycine |
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Hip contracture, Depressed nasal bridge, Anteverted nares, Overlapping toe, Trigonocephaly, Genu ... |
OMIM:617301 |
Arthrogryposis, Distal, Type 2B1 |
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Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C... |
OMIM:601680 |
Herpes Simplex Virus Stromal Keratitis |
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Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
3P25.3 Microdeletion Syndrome |
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Epicanthus, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Congenita... |
ORPHA:435638 |
Aredyld |
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Generalized hypotrichosis, Abnormality of the ear |
OMIM:207780 |
Opitz-Kaveggia Syndrome |
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Syndactyly, Broad hallux, Single transverse palmar crease, Hydrocephalus, Split hand, Sensorineur... |
OMIM:305450 |
Oliver-Mcfarlane Syndrome |
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Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse hair |
OMIM:275400 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
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Microtia |
OMIM:618158 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
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Alopecia, Telecanthus, Cryptorchidism, Fine hair, Upslanted palpebral fissure, Hypogonadism, Low-... |
ORPHA:228390 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
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Short humerus, Swan neck-like deformities of the fingers, Microcephaly, Coxa vara, Irregular capi... |
OMIM:616716 |
Thanatophoric Dysplasia Type 1 |
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Frontal bossing, Bowing of the long bones, Short femur, Depressed nasal bridge, Cloverleaf skull,... |
ORPHA:1860 |
Silver-Russell Syndrome 3 |
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Syndactyly, Unilateral cryptorchidism, Small hand, Antecubital pterygium, Melanocytic nevus, Low-... |
OMIM:616489 |
Isotretinoin Syndrome |
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Hypoplastic toenails, Spina bifida occulta, Abnormality of the outer ear, Microtia |
ORPHA:2305 |
Morning Glory Disc Anomaly |
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Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
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Increased CSF protein concentration, Tapered finger, Long fingers, Diffuse white matter abnormali... |
OMIM:218000 |
Walker-Warburg Syndrome |
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Anophthalmia, Posteriorly rotated ears, Hydrocephalus, Protruding ear, Low-set ears, Metatarsus v... |
ORPHA:899 |
C Syndrome |
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Short metacarpal, Toe syndactyly, Anteverted nares, Micromelia, Trigonocephaly, Microcephaly, Pos... |
OMIM:211750 |
Laurence-Moon Syndrome |
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Micropenis, Polydactyly, Abnormality of the hand |
OMIM:245800 |
Down Syndrome |
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Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Conductive hearing... |
OMIM:190685 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom... |
OMIM:120200 |
Wolf-Hirschhorn Syndrome |
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Rieger anomaly, Epicanthus, Hypospadias, Single transverse palmar crease, Short hallux, Pseudoepi... |
OMIM:194190 |
Pde4D Haploinsufficiency Syndrome |
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Prominent nose, Short metatarsal, Brachycephaly, Bilateral coxa valga, Short phalanx of finger, B... |
ORPHA:439822 |
Cardiofaciocutaneous Syndrome 4 |
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Absent eyebrow, Curly hair, Sparse eyelashes, Optic nerve hypoplasia, Ventricular septal hypertro... |
OMIM:615280 |
Freeman-Sheldon Syndrome |
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Camptodactyly of finger, Underdeveloped nasal alae, Depressed nasal ridge, Wide nasal bridge, Uln... |
ORPHA:2053 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Depressed nasal ridge, Short nose, Anteverted nares, Hypospadias |
ORPHA:1355 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Microphthalmia, Long eyelashes, Camptodactyly of finger, Hypogonadotropic hypogonadism |
ORPHA:48431 |
Skraban-Deardorff Syndrome |
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Right aortic arch |
OMIM:617616 |
Apert Syndrome |
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Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty... |
OMIM:101200 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Sparse facial hair, Sparse axillary hair, Sensorineural hearing impairment, Genu valgum, Slender ... |
OMIM:608154 |
Helsmoortel-Van Der Aa Syndrome |
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Ectropion of lower eyelids, Enuresis nocturna, Eyelid coloboma, Short 4th toe, Clinodactyly of th... |
OMIM:615873 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Frontal bossing, Arachnodactyly, Prominent nasal bridge, Anteverted nares, Micro... |
ORPHA:371364 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Postaxial polydactyly |
OMIM:615985 |
Parenti-Mignot Neurodevelopmental Syndrome |
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Posteriorly rotated ears, Synophrys, Cupped ear, Microtia, Low-set ears |
OMIM:619873 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Finger syndactyly, Frontal bossing, Toe syndactyly, Depressed nasal bridge, Hydrocephalus, Hand p... |
ORPHA:60040 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
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Epicanthus, Posteriorly rotated ears, Long fingers, Upslanted palpebral fissure, Hypoplastic nipp... |
OMIM:156610 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Sparse hair, Nail dystrophy, Recurrent otitis media,... |
OMIM:618625 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
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Cerebral hemorrhage, Premature coronary artery atherosclerosis, Stroke-like episode, Right aortic... |
OMIM:300845 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Medial flaring of the eyebrow, Atrial septal defect, Persistent fetal circulation, Tricuspid regu... |
OMIM:612863 |
Meier-Gorlin Syndrome 1 |
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Flat glenoid fossa, Cutaneous finger syndactyly, Short palm, Clinodactyly of the 5th finger, Emph... |
OMIM:224690 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Schilbach-Rott Syndrome |
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Posteriorly rotated ears, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Microtia... |
OMIM:164220 |
Foodborne Botulism |
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Ptosis, Arrhythmia, Urinary retention, Mydriasis |
ORPHA:228371 |
Joubert Syndrome 17 |
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Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Autosomal Recessive Spastic Paraplegia Type 66 |
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Cerebellar hypoplasia, Colpocephaly, Talipes equinovarus, Hypoplasia of the corpus callosum |
ORPHA:401815 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Uplifted earlobe, Recurrent pneumonia... |
OMIM:616449 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Decreased palmar creases, Highly arched eyebrow, Narrow palm, Abnormal heart morphology, Joint co... |
ORPHA:352490 |
Joubert Syndrome 7 |
|
Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge... |
OMIM:611560 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Elbow... |
OMIM:617468 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Single transverse palmar crease, Posteriorly rotated ears, Conductive hearing impairm... |
OMIM:611209 |
Mohr Syndrome |
|
Syndactyly, Depressed nasal bridge, Broad nasal tip, Bifid nasal tip, Preaxial hand polydactyly, ... |
OMIM:252100 |
Noonan Syndrome 8 |
|
Atrial septal defect, Curly hair, Ventricular septal defect, Hypertrophic cardiomyopathy, Mitral ... |
OMIM:615355 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia |
OMIM:619699 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Agenesis of c... |
OMIM:615287 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Depressed nasal bridge, Anteverted nares, Hypospadias, Short metatarsal, Advanc... |
OMIM:614613 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Frontal bossing, Wide nose, Pes planus, Anteverted nares, Hypospadias, Narrow nasal ridge, Underd... |
OMIM:619293 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Synophrys, Transposition of the great arteries, Low-set ears, Abnormal... |
ORPHA:1913 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Sparse eyelashes, Sparse eyeb... |
OMIM:250410 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Microcephaly, Hydrocephalus, Elbow flexion contracture, Simplified gyral pattern, Periventricular... |
OMIM:619470 |
Albinism, Oculocutaneous, Type V |
|
Hypoplasia of the fovea, Albinism |
OMIM:615312 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy, Cupped ear, Arachnodactyly |
ORPHA:93946 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Focal Facial Dermal Dysplasia Type Ii |
|
Abnormal pinna morphology, Trichiasis, Lop ear, Sparse eyebrow, Ectropion of lower eyelids, Low-s... |
ORPHA:398173 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ... |
OMIM:615503 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Synophrys, Large fleshy ears, Atrial septal defect, Prominent superior crus of antihelix, Patent ... |
ORPHA:280633 |
Stevenson-Carey Syndrome |
|
Posteriorly rotated ears, Hip dysplasia, Low-set ears, Camptodactyly, Microphthalmia, Joint contr... |
OMIM:611961 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Depressed nasal bridge, Microcephaly, Abnorma... |
ORPHA:3098 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Epicanthus, Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalanx of t... |
OMIM:618419 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dyspl... |
OMIM:614527 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Prominent nose, 2-3 toe cutaneous syndactyly, Functional abnorma... |
ORPHA:96148 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Posteriorly rotated ear... |
OMIM:612946 |
Tetrasomy 5P |
|
Pericallosal lipoma, Redundant neck skin, Anteverted nares, Overlapping toe, Short hallux, Long f... |
ORPHA:3309 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Mitral stenosis, Camptodactyl... |
ORPHA:2008 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Microcephaly, Wide nasal bridge, S... |
OMIM:224410 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe, Ectopic kidney |
OMIM:181510 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Frontal bossing, Depressed nasal bridge, Anteverted nares, Mic... |
ORPHA:93329 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Microphthalmia, Hearin... |
ORPHA:77298 |
Recon Progeroid Syndrome |
|
Attached earlobe, Arachnodactyly, Proximal placement of thumb, Hyperconvex thumb nails, Absent lo... |
OMIM:620370 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Rahman Syndrome |
|
Redundant skin, Talipes equinovarus, Camptodactyly, Thin corpus callosum, Ventriculomegaly |
OMIM:617537 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, De... |
OMIM:229200 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Premature graying of hair, Short palm, Sparse hair, Absent eyebrow, A... |
OMIM:268400 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Micropenis, Pe... |
OMIM:270400 |
Menkes Disease |
|
Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Intracranial hemorrhage, Death i... |
OMIM:309400 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Abnorm... |
ORPHA:99947 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Coxa valga, Sensorineural hearing impairment, Recurrent pneumonia, Elbow flex... |
OMIM:214150 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Iris transillumination def... |
OMIM:617306 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Hearing impairment, Abnormal hair whorl, Right ventricular hypertrophy... |
OMIM:614261 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Long toe, Wide nasal bridge, Talipes equinovarus, Wide nasal base, Long foot, Ventriculomegaly, L... |
OMIM:617788 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, Microcephaly, Hydrocephalus, Prominent fingertip pads, ... |
OMIM:300558 |
Waardenburg Syndrome Type 1 |
|
Ptosis, Hypopigmentation of hair, White eyelashes, White eyebrow, Telecanthus, Abnormal hair morp... |
ORPHA:894 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Vesicoureteral reflux, Micropenis, Agenesis of corpus callosum, Hypospadias,... |
OMIM:301056 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Posteriorly rotated ear... |
ORPHA:2876 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Coxa valga, Abnormality of the elbow, ... |
ORPHA:163649 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Wide nose, Congenital hip dislocation, Limited elbow movement, Prominent nose, Bro... |
OMIM:300280 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Posteriorly rotated ears, Uplifted earlobe, Tapered finger, Blepharophimosis, Long fi... |
OMIM:616734 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Anotia, Atresia of the external auditory canal, Small nail, Camptodactyly, Conductive hearing imp... |
OMIM:608257 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Anomalous origin of one pulmo... |
ORPHA:3384 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Flat occiput, Anteverted nares, Overlapping toe, Cerebellar vermis hypoplasi... |
OMIM:619383 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... |
OMIM:617205 |
Congenital Ptosis |
|
Cafe-au-lait spot, Long eyelashes, Piebaldism |
ORPHA:91411 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Frontal bossing, Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Elbow di... |
ORPHA:93328 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Low-set ears, Split hand, Aplasia/Hypoplasia of the external ear |
ORPHA:168486 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Metaphyseal dysplasia, Posteriorly rotated ears, Microtia, Low-set ears, Clinodactyly, Cafe-au-la... |
OMIM:618336 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Optic nerve hypoplasia, Hydrocephalus, Microtia, Low-set ears, D... |
OMIM:614643 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Incr... |
ORPHA:457395 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abno... |
ORPHA:177 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Atrial septal defect, Aortic regurgitation, Sandal gap, Ventricula... |
ORPHA:254346 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:2143 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Multiple Synostoses Syndrome 2 |
|
Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equinovarus,... |
OMIM:610017 |
Fetal Alcohol Syndrome |
|
Microphthalmia, Congenital diaphragmatic hernia |
ORPHA:1915 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Ptosis, Renal insufficiency, Cataract, Telecanthus, Increased carrying angle, Nephropathy, Brachy... |
OMIM:247410 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Aortic regurgitation, Sandal gap, Tapered finger, Secundum atrial septal defect, P... |
OMIM:620072 |
Adult Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Breast hypoplasia,... |
ORPHA:978 |
Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypoplastic scapulae, Depressed nasal bridge, Anteverted ... |
ORPHA:1512 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Curly hair, Brittle hair, Ventricular septal defect, Avascular necrosis of ... |
OMIM:222470 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Polydactyly |
OMIM:607361 |
Cebalid Syndrome |
|
Turricephaly, Anteverted nares, Depressed nasal bridge, Depressed nasal ridge, Brachycephaly, Pla... |
OMIM:618774 |
Lambert Syndrome |
|
Hypospadias, Talipes equinovarus |
OMIM:245550 |
Acrofrontofacionasal Dysostosis 1 |
|
Ptosis, Short metacarpal, Mixed hearing impairment, Long eyebrows, Widow's peak, Long eyelashes, ... |
OMIM:201180 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Cerebellar vermis hypoplasia, Overlapping toe, Single transverse palmar crease, Reduced cerebral ... |
OMIM:617807 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Inguinal hernia, Congenital diaphragmatic hernia, Vascular tortuosity, Ascending tubular aorta an... |
OMIM:219100 |
Ermine Phenotype |
|
Toe syndactyly, Ocular albinism, Astigmatism, Clinodactyly of the 5th finger, Iris hypopigmentation |
ORPHA:999 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Brachydactyly, Posteriorly rotated ears, Hypertension, Patchy alopecia, Low-set ears, Broad dista... |
OMIM:617763 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares |
ORPHA:2015 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Microcephaly, Plagiocephaly, Abnormal cerebral white matter morphology, Talipes equinovarus, Hypo... |
OMIM:617481 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Camptodactyly of finger, Hydrocephalus, Brachycephaly, Aplasia/Hypoplasia of th... |
ORPHA:272 |
Naxos Disease |
|
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... |
OMIM:601214 |
Fibrochondrogenesis 2 |
|
Frontal bossing, Anteverted nares, Hypoplastic ischia, Hypoplastic ilia, Metaphyseal widening, Hy... |
OMIM:614524 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Frontal bossing, Arachnodactyly, Hydrocephalus, Shoulder dislocation, Umbilical hernia, Adducted ... |
ORPHA:2181 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Postaxial... |
OMIM:619879 |
Aase-Smith Syndrome I |
|
Death in infancy, Hydrocephalus, Talipes equinovarus, Slender finger, Dandy-Walker malformation |
OMIM:147800 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Palmoplantar keratoderma, Onycholysis, Nail dystroph... |
OMIM:224750 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short distal phal... |
ORPHA:181 |
Xp22.13P22.2 Duplication Syndrome |
|
Tapered finger, Recurrent upper respiratory tract infections, Small hand, 2-3 toe syndactyly, Spa... |
ORPHA:284180 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... |
OMIM:615981 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Hydrocephalus, Abnormal cardiac ventricle morphology, Aplasia/Hypoplasia o... |
ORPHA:2306 |
Miller Fisher Syndrome |
|
Anisocoria, Ptosis, Mydriasis |
ORPHA:98919 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Low posterior hairline, Abnormal ant... |
ORPHA:85194 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Recurrent respiratory infections, Single transverse palmar crease, Synophrys, Nail pits, Large ea... |
OMIM:618076 |
Hamamy Syndrome |
|
Long toe, Syndactyly, Atrial septal defect, Sparse eyelashes, Down-sloping shoulders, Prolonged Q... |
OMIM:611174 |
Isolated Arrhinia |
|
Microphthalmia, Eyelid coloboma, Microtia |
ORPHA:1134 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Plagiocephaly, Lateral ventricle dilatation, Polymic... |
OMIM:600348 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Renal insufficiency, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nas... |
ORPHA:220497 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Single transverse palmar crease, Unilateral renal agenesis, Long fingers, Enuresis, ... |
ORPHA:96121 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Bulbous nose, Brachycepha... |
OMIM:618828 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Hypoplastic fingernail, Abnormal mitral valve morphology, Hypoplastic toena... |
ORPHA:1292 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:619343 |
Infantile Sialic Acid Storage Disease |
|
Anteverted nares, Abnormal foot morphology, Hydrocephalus, Cerebral atrophy, Nephrotic syndrome, ... |
OMIM:269920 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Thick eyebrow, Renal agenesis, Unilateral renal agenesis |
OMIM:608980 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Frontal bossing, Anteverted nares, Single transverse palmar crease, Bulbous nose, Clinodactyly, W... |
OMIM:613604 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Talipes equinovarus |
OMIM:601382 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Ap... |
ORPHA:3301 |
Short Stature With Microcephaly And Distinctive Facies |
|
Death in infancy, Syndactyly, Brachydactyly, Depressed nasal bridge, Anteverted nares, Proximal p... |
OMIM:615789 |
Oculodentodigital Dysplasia |
|
Atrial septal defect, Dry hair, Abnormal pinna morphology, Slow-growing hair, Cubitus valgus, Con... |
OMIM:164200 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Ohdo Syndrome |
|
Sparse eyebrow, Microtia, Clinodactyly of the 5th finger, Stenosis of the external auditory canal... |
OMIM:249620 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hydrocephalus, Brachycephaly, Multiple suture cra... |
ORPHA:207 |
Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Pulmonic stenosis, Clinodactyly of the 5th finger, H... |
OMIM:619149 |
Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Heart murmur, Few cafe-au-lait spots |
OMIM:606744 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Split hand, Hammertoe, Talipes equinovarus, Ulnar claw, Pes cavus |
OMIM:604563 |
Roussy-Lévy Syndrome |
|
Intrinsic hand muscle atrophy, Genu valgum, Talipes equinovarus, Urinary bladder sphincter dysfun... |
ORPHA:3115 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Posteriorly rotated ears, Rocker bottom foot, Hearing impairment, Tapered finger, Finger clinodac... |
OMIM:601353 |
Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of t... |
ORPHA:1842 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Overlapping toe, Low-set ears, Clinodactyly of t... |
OMIM:618974 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Narrow nail, Sandal gap, Ventricular septal defect, Hallux varus, Tapered finger, Poste... |
OMIM:158170 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Joubert Syndrome |
|
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Hydrocepha... |
ORPHA:475 |
Heterotaxy, Visceral, 7, Autosomal |
|
Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azygous conti... |
OMIM:616749 |
Congenital Disorder Of Deglycosylation 2 |
|
Ulnar deviation of the hand, Sandal gap, Highly arched eyebrow, Microtia, Bilateral talipes equin... |
OMIM:619775 |
Progeroid Syndrome, Petty Type |
|
Low-set, posteriorly rotated ears, Brittle hair, Abnormal hair morphology, Abnormality of the nai... |
ORPHA:2963 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Thick eyebrow, Sandal gap, Single transverse palmar creas... |
OMIM:617061 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Sensorineural hearing impairment, Short foot, A... |
ORPHA:228399 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Vesicoureteral reflux, Abnormality of the wrist, Micropenis, Elbow ankylosis, Sho... |
ORPHA:95699 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Kbg Syndrome |
|
Syndactyly, Telecanthus, Posteriorly rotated ears, Single transverse palmar crease, Cryptorchidis... |
OMIM:148050 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Talipes equinovarus |
OMIM:611067 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Corneal opacity, Proteinuria, Micromelia, Ulnar bowing, Madelung deformity, Hematu... |
ORPHA:1765 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sparse scalp hair, Hypoplastic toenails, Sparse eyebrow, Hydrocephalus, Small hand, Low-set ears,... |
ORPHA:459061 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, M... |
ORPHA:1865 |
Acromesomelic Dysplasia 1 |
|
Frontal bossing, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the ... |
OMIM:602875 |
Microtriplication 11Q24.1 |
|
Wide nose, Microcephaly, Metatarsus adductus, Small hand, Genu valgum, Short foot, Talipes equino... |
ORPHA:289522 |
Joubert Syndrome 23 |
|
Coloboma, Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricu... |
OMIM:614114 |
Smith-Magenis Syndrome |
|
Frontal bossing, Pes planus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Delayed er... |
ORPHA:819 |
Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment, Albinism |
OMIM:300650 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Hypoplastic ... |
OMIM:616589 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Overlapping toe, Femoral bowing, Narrow pelvis bone, S... |
OMIM:616723 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr... |
OMIM:220200 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Sparse eyelashes, Atresia of the external auditory canal |
OMIM:300946 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Orthostatic hypotension, Optic atrophy, Palmoplantar hyperkeratosis |
OMIM:231550 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Flat occiput, Convex nasal ridge, Tibial bowing, Coloboma, Clinodactyly of the 5th finger, Microp... |
ORPHA:251028 |
Edinburgh Malformation Syndrome |
|
Death in infancy, Hydrocephalus |
OMIM:129850 |
Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Membranous subvalvular aortic stenosis, Subvalvular aortic ste... |
ORPHA:3191 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Co... |
ORPHA:2135 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Congenital diap... |
ORPHA:2847 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Atrial septal defect, Overlapping fingers, Overlapping toe, Single transverse ... |
ORPHA:464738 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, ... |
OMIM:613792 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Pes cavus, Primary microcephaly |
OMIM:245570 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Cataract, Renal agenesis, Preaxial hand polydactyly, Nasolacrimal d... |
ORPHA:1297 |
3-Hydroxyisobutyric Aciduria |
|
Microtia |
ORPHA:939 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, ... |
ORPHA:3078 |
Chromosome 17P13.1 Deletion Syndrome |
|
Diffuse cerebral atrophy, Proximal placement of thumb, Brachycephaly, Knee flexion contracture, S... |
OMIM:613776 |
Myopathic Ehlers-Danlos Syndrome |
|
Pes planus, Foot joint contracture, Shoulder flexion contracture, Ankle flexion contracture, Tape... |
ORPHA:536516 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Choanal atresia, Craniosynostosis, Hydrocephalus, Brachycephaly, Midface retrusion |
OMIM:612247 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Hydrocepha... |
ORPHA:220493 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence... |
ORPHA:83463 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Treacher Collins Syndrome 2 |
|
Lower eyelid coloboma, Fusion of middle ear ossicles, Anotia, Microtia, Conductive hearing impair... |
OMIM:613717 |
Metatropic Dysplasia |
|
Depressed nasal bridge, Camptodactyly of finger, Micromelia, Hydrocephalus, Halberd-shaped pelvis... |
ORPHA:2635 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Alopecia, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supern... |
OMIM:100300 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Anteverted nares, Single transverse palmar crease, Microcephaly, Wide nasal bridge, C... |
OMIM:614701 |
Ring Chromosome 21 Syndrome |
|
Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Holoprosencephaly, Multiple cafe-... |
ORPHA:1445 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, Epicanthus, External ear malformation, Cryptorchidism, Upper l... |
ORPHA:2505 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Tapered finger, Small hand, Pulmonary arterial hypertension, Hip dysplasia, ... |
OMIM:620005 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Palmoplantar keratoderma, Conjunc... |
OMIM:308800 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Abnormality of the hand, Anterior cortical ca... |
OMIM:221800 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Ulnar deviation of the hand, Sensorineural hearing impairment, High ante... |
OMIM:615546 |
Fried Syndrome |
|
Hydrocephalus, Cerebral calcification, Thickened calvaria |
ORPHA:85335 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Lacrimal duct stenosis, Optic nerve hypoplasia, Unilateral re... |
ORPHA:221139 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Prominent nose, Bulbous nose, Hydrocephalus... |
ORPHA:2180 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Carotid artery dissection, Congenital diaphragmatic hernia, Hiatus hernia, Pulmo... |
OMIM:208050 |
Diencephalic Syndrome |
|
Large hands, Long penis, Hydrocephalus |
ORPHA:1672 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Overlapping toe, Proximal placement of thumb, Unilateral renal agenesis, Tapered fin... |
ORPHA:487796 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge, Dandy-Walker malformation, Progressive microcephaly |
ORPHA:438178 |
Charcot-Marie-Tooth Disease Type 4A |
|
Limited interphalangeal movement, Hand muscle weakness, Limited wrist movement, Abnormal foot mor... |
ORPHA:99948 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Natal tooth, Cerebellar vermis hypoplasia, Broad hallux, Microcephaly, E... |
OMIM:615948 |
Slc35A2-Cdg |
|
Cerebral white matter atrophy, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Meta... |
ORPHA:356961 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Sandal gap, Highly arched eyebrow, Cupped ear, Protruding ear, Short foot, Low posterior hairline... |
OMIM:156200 |
Noonan Syndrome 6 |
|
Curly hair, Long eyebrows, Sensorineural hearing impairment, Low posterior hairline, Multiple len... |
OMIM:613224 |
Infant Botulism |
|
Ptosis, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis |
ORPHA:178478 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter mor... |
ORPHA:352682 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Highly arched eyebrow, Synophrys, Low anterior hairline, Large hands, Abno... |
OMIM:615009 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Absent eyelashes, Short thumb, Partial duplication of thumb phalanx, Cupped ear, Microtia, Hearin... |
OMIM:620193 |
Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleioc... |
OMIM:610333 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Rapp-Hodgkin Syndrome |
|
2-3 toe cutaneous syndactyly, Sparse hair, Syndactyly, Sparse eyebrow, Small nail, Ptosis, Absent... |
OMIM:129400 |
X-Linked Intellectual Disability, Van Esch Type |
|
Clinodactyly of the 5th finger, Microtia |
ORPHA:163976 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Pes planus, Coloboma, Microcephaly |
OMIM:618295 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Atrial septal defect, Sandal gap, Hearing impairment, Highly arched eyebrow, Long finge... |
ORPHA:261279 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Sparse eyelashes, Sparse eyebrow, E... |
OMIM:302960 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Palmoplantar keratoderma, Nail dyst... |
ORPHA:79402 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Complete atriov... |
OMIM:264480 |
Moynahan Syndrome |
|
Alopecia, Sensorineural hearing impairment, Sparse hair |
ORPHA:2574 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Meier-Gorlin Syndrome 3 |
|
Posteriorly rotated ears, Sparse axillary hair, Aplasia/Hypoplasia of the patella, Sparse pubic h... |
OMIM:613803 |
Joint Laxity, Short Stature, And Myopia |
|
Talipes equinovarus, Umbilical hernia, Iris coloboma, Chorioretinal coloboma |
OMIM:617662 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
49,Xxxyy Syndrome |
|
Recurrent upper respiratory tract infections, Wide nasal bridge, Finger clinodactyly, Abnormal ce... |
ORPHA:261534 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... |
OMIM:612290 |
Adnp Syndrome |
|
Sparse scalp hair, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morpho... |
ORPHA:404448 |
Oculodentodigital Dysplasia |
|
Brittle hair, Abnormality of the ear, Conductive hearing impairment, Clinodactyly of the 5th fing... |
ORPHA:2710 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Curly hair, Scapular winging, Posteriorly rotated ears, Sparse eyebrow, Mit... |
OMIM:619745 |
Alport Syndrome |
|
Mesangial hypercellularity, Macular degeneration, Nephritis, Tubulointerstitial fibrosis, Glomeru... |
ORPHA:63 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Frontal bossing, Turricephaly, Tapered finger, Megalencephaly, Microcephaly, Hydrocephalus, Wide ... |
OMIM:613603 |
Fryns Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Abnormal aortic mo... |
ORPHA:2059 |
Hydrocephalus, Congenital, X-Linked |
|
Thumb contracture, Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tr... |
OMIM:307000 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Coffin-Siris Syndrome 7 |
|
Sparse scalp hair, Ventricular septal defect, Bicuspid aortic valve, Hearing impairment, Posterio... |
OMIM:618027 |
Joubert Syndrome 2 |
|
Encephalocele, Frontal bossing, Renal insufficiency, Agenesis of cerebellar vermis, Depressed nas... |
OMIM:608091 |
Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Eyelid coloboma, Shallow orbits, Sparse hair, Phocomelia, Wrist flexion contract... |
OMIM:268300 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndac... |
OMIM:107480 |
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
|
Abnormal finger morphology, Bilateral talipes equinovarus |
ORPHA:2560 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Abnormal carpal morphology, Madelung deformity, Bilateral breast hypoplasia, Hip dysplasia, Limb ... |
ORPHA:319675 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Microcephaly, Wide nasal bridge, Shortening of all distal phalanges of the finge... |
OMIM:615716 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Anteverted nares, Fractured radius, Hypospadias, Decreased fibular diameter, Microce... |
OMIM:616897 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Pes cavus, Depressed nasal bridge, Coxa valga, Microcephaly, Hydrocephalus, Plagiocephaly, Hammer... |
OMIM:619833 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge, Microcephaly |
OMIM:200130 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Abnormal sacroiliac joint m... |
ORPHA:1807 |
Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Bowing of the long bones, Cloverleaf skull, Small abnormally formed scapulae, Hy... |
OMIM:187600 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Death in childhood, Melanin pigment... |
OMIM:256710 |
Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Slender long bone, Microtia, Low-set ears, Emphysema, Breast hypoplasia |
OMIM:613804 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic fingernail, Hypoplastic thumbnail, Hypoplastic toenails, Hypoplastic fifth fingernail... |
OMIM:619356 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Revesz Syndrome |
|
Exudative retinopathy, Megalocornea, Leukocoria |
OMIM:268130 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Patent ductus arteriosus, Overriding aorta, Vascular ring |
OMIM:601927 |
Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Ventricular septal defect, Hypertension, Short palm |
ORPHA:79094 |
Coffin-Siris Syndrome 3 |
|
Macroglossia, Umbilical hernia, Inguinal hernia, Central diaphragmatic hernia |
OMIM:614608 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Tapered finger, Nephrolithiasis, Vesicoureteral reflux, Hip dysplasia, Talipes equin... |
OMIM:617219 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Macular degeneration, Choroidal neovascularization, Congenital bilateral hip dislocation |
ORPHA:404451 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Slender nose, Arachnodactyly, Microcephaly, Calcaneovalgus deformity, Adducted thumb, Wide nasal ... |
ORPHA:562528 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphol... |
ORPHA:1642 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Thenar muscle at... |
ORPHA:2213 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Posteriorly rotated ears, Low anterior hairline, Protruding ear, Long eyelashes, L... |
OMIM:616819 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Ptosis, Corneal opacity, Unilateral renal agenesis, Congestive heart failur... |
ORPHA:90348 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Monosomy 9P |
|
Thin nail, Proximal placement of thumb, Highly arched eyebrow, Abnormality of the tarsal bones, P... |
ORPHA:261112 |
Cockayne Syndrome Type 2 |
|
Macrotia, Anophthalmia, Hypermelanotic macule, Hearing impairment |
ORPHA:90322 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Cardiomegaly, Hydrocephalus, Microphthalmia, Hearing impairment |
ORPHA:858 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Camptodactyly of finger, Widow's peak, Fin... |
ORPHA:391474 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Aymé-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Posteriorly rotated ears, Rocker bottom foot, Tapered finger, Pe... |
ORPHA:1272 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Microcephaly, Abnormali... |
ORPHA:3121 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Atrial septal defect, Ventricular septal defect, Rocker bottom foot, Posteriorly rotat... |
OMIM:612582 |
Achondrogenesis Type 1A |
|
Frontal bossing, Anteverted nares, Micromelia, Short foot, Short palm, Umbilical hernia, Short nose |
ORPHA:93299 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Arachnodactyly, Depressed nasal bridge, Choanal atresia, Rocker bottom foot, Uln... |
OMIM:207410 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Downslanted palpebral fissures, Broad thumb, Brachydactyly |
OMIM:614526 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Spina bifida occulta,... |
OMIM:218600 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Optic disc pallor, Hypospadias, Camptodactyly of finger, Unilateral renal ... |
ORPHA:468631 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... |
OMIM:216340 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Cerebellar vermis hypoplasia, Brachycephaly, F... |
OMIM:274000 |
Temple Syndrome |
|
Frontal bossing, Wide nose, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Small hand, ... |
OMIM:616222 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thumb, Patent foramen oval... |
OMIM:609053 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Pes planus, Microcephaly, Hydrocephalus, Wide nasal bridge, Periventricular leukomalacia |
OMIM:618302 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Hypoplastic fingernail, Ventricular septal defect, Hearing impairment, Hypo... |
OMIM:220500 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... |
OMIM:610759 |
Congenital Myopathy 20 |
|
Scapular winging, Ulnar deviation of the hand, Depressed nasal bridge, Toe joint contracture, Hip... |
OMIM:620310 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Hydrocephalus, Microtia, Conotruncal defect |
OMIM:243440 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Inguinal hernia |
ORPHA:1135 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Ptosis, Single transverse palmar crease, Bil... |
OMIM:305400 |
Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Hand polydactyly, Transposition of the great arteries,... |
ORPHA:261243 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Synophrys, Cutaneous finger syndactyly, Blepharophimosis, Thick eyebrow, Ptosis |
OMIM:210745 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Epicanthus, Telecanthus, Hypermelanotic macule, Cryptorchidism, Broad palm, Cafe-au-l... |
OMIM:618505 |
49,Xxxxy Syndrome |
|
Delayed eruption of teeth, Pes planus, Wide nose, Hypoplasia of penis, Depressed nasal bridge, Do... |
ORPHA:96264 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Hydrocephalus, Anotia, Bilateral talipes equinovarus, Microtia, Low-... |
OMIM:614083 |
Achondroplasia |
|
Death in infancy, Brachydactyly, Radial bowing, Depressed nasal bridge, Rhizomelia, Short femur, ... |
OMIM:100800 |
Contractural Arachnodactyly, Congenital |
|
Brachycephaly, Knee flexion contracture, Wrist flexion contracture, Arachnodactyly, Ulnar deviati... |
OMIM:121050 |
Periventricular Nodular Heterotopia 9 |
|
Posteriorly rotated ears, Single transverse palmar crease, Tapered finger, Synophrys, Microtia, S... |
OMIM:618918 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Hypoplastic toenails, Right atrial enlargement, Pulmonary arterial hypertension, Abse... |
OMIM:616028 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Hypospadias, Hydrocephalus, Brachycephaly, Horseshoe kidney, Hypoplasia of the c... |
OMIM:218350 |
Incontinentia Pigmenti |
|
Abnormal hand morphology, Abnormality of skin pigmentation, Abnormal toenail morphology, Spina bi... |
ORPHA:464 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Sparse hair, Lo... |
ORPHA:175 |
Lethal Congenital Contracture Syndrome 11 |
|
Flexion contracture of finger, Elbow flexion contracture, Camptodactyly, Bilateral talipes equino... |
OMIM:617194 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyela... |
OMIM:106260 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis |
OMIM:118100 |
Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Anteverted nares, Hydroc... |
ORPHA:59315 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Frontal bossing, Midface retrusion, Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, ... |
OMIM:618529 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Anteverted nares, Rocker bottom foot, Urinary inco... |
OMIM:301041 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair, Cranium bifidum occultum |
ORPHA:2985 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Rocker bottom foot, Spina bifida, Micromelia, Elbow dislocation, Campt... |
ORPHA:99776 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Rocker bottom foot,... |
OMIM:193700 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:300978 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Pes planus, Wide nose, Depressed nasal bridge, Anteverted nares, Tapered finger, Elbow flexion co... |
OMIM:272430 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Sensorineural hearing impairment, Fine hair, Sparse body hair, Pili torti... |
ORPHA:202 |
Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Sparse scalp hair, Overlapping toe, Taper... |
OMIM:618371 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Brittle hair, Trichoschisis, Freckling, Protruding ear, Fine hair, Telangiectas... |
OMIM:601675 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect, Low anterior hairline |
OMIM:608227 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pes planus, Turricephaly, Depressed nasal bridge, Anteverted nares, Broad hallux, Tapered finger,... |
OMIM:620224 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Frontal bossing, Depressed nasal bridge, Hypoplasia of the pons, Wide nasal base, Wide nasal brid... |
ORPHA:397709 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Congenital sensorineural... |
ORPHA:500159 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Thickened helices, Sparse hair, Atrial septal defect, Dystrophic fingernails, Low-s... |
ORPHA:1340 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Death in infancy, Flat occiput, Epiphyseal stippling, Talipes equinovarus, Polymicrogyria |
OMIM:614872 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Anophthalmia, Hypogonadotropic hypogonadis... |
ORPHA:138 |
Rodrigues Blindness |
|
Sparse hair, Microphthalmia, Fine hair, Protruding ear |
OMIM:268320 |
Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
16P13.11 Microdeletion Syndrome |
|
Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Microcephaly... |
ORPHA:261236 |
Sacral Agenesis With Vertebral Anomalies |
|
Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Oliver Syndrome |
|
Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand polydactyly, Elbow flexi... |
ORPHA:2920 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Short metacarpal, Heart block, Sensorineural hearing impairm... |
ORPHA:773 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... |
OMIM:619091 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Brachycephaly,... |
OMIM:618430 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Hydrocephalus, Abnormality of the elbow, Short nose, Brachydactyly |
ORPHA:2701 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu... |
ORPHA:3437 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormality of the ear, Abnormality of skin pigmentation, Abnormality of the nail, ... |
ORPHA:2556 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... |
OMIM:615989 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Abnormal hair pattern, Crypt... |
ORPHA:1786 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Talipes cavus equinovarus, Focal T2 hypointense basal ganglia lesion, Increased CSF lactate |
ORPHA:139485 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Hearing impairment, Sparse eyebrow, Cardiomyopathy, Abnormal cardiac s... |
ORPHA:3338 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Kabuki Syndrome 2 |
|
Atrial septal defect, Hearing impairment, Highly arched eyebrow, Cupped ear, Hip dislocation, Pro... |
OMIM:300867 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... |
OMIM:177170 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Sensorineural hearing impairment, Microtia |
OMIM:275630 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Microcephaly, Anosmia, Epiphyseal stippling, Short nose, Short nasal sept... |
OMIM:302950 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Craniosynostosi... |
OMIM:614732 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly o... |
ORPHA:83 |
Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308750 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Abnormal fingernail morphology, Protruding ear, Abnormality of ... |
ORPHA:1806 |
15Q24 Microdeletion Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Proximal placement of thumb, Hypospadias, Abnorma... |
ORPHA:94065 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Right aortic arch, Interrupted aortic arch, Truncus ar... |
OMIM:617478 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ptosis, Epicanthus, Thickened helices, Protru... |
ORPHA:1587 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Epicanthus, Overlapping toe, Bull's eye maculopathy, Uni... |
OMIM:213980 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Atrial septal defect, Micromelia, Sensorineural hearing impairm... |
ORPHA:2637 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Pigmentary retinopathy, Alopecia, Long eyelashes |
ORPHA:3363 |
Botulism |
|
Arrhythmia, Urinary retention, Mydriasis |
ORPHA:1267 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Flexion contracture, Congenital diaphragmatic hernia |
OMIM:263210 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Atrial septal defect, Sma... |
ORPHA:96334 |
Cystathioninuria |
|
Nephrolithiasis, Cystathioninuria, Talipes equinovarus |
ORPHA:212 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Duplication of thumb phalanx, Abnormal thumb morphology, Cupped ear, Microtia, Hearing impairment |
OMIM:620192 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Microcephaly, Prominent nose, Bulbous nose, Wide nasal bridge, Talipes equinovarus |
OMIM:614067 |
Larsen-Like Syndrome |
|
Frontal bossing, Brachycephaly, Absent nasal bridge, Talipes equinovarus, Radial deviation of the... |
OMIM:608545 |
Bardet-Biedl Syndrome 1 |
|
Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Catara... |
OMIM:209900 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hypoplasia of deltoi... |
OMIM:173800 |
Alg3-Cdg |
|
Abnormal pinna morphology, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Neural tu... |
ORPHA:79321 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Hydrocephalus, Drumstick terminal phalanges, Skull asymmetry, Lissencephaly, Se... |
OMIM:612938 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Ayme-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Posteriorly rotated ears, Hearing impairment, Tapered finger, Se... |
OMIM:601088 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Ventricula... |
OMIM:601005 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Bowing of the long bones, Congenital hip dislocation, Pes planus, Shoulder flexi... |
OMIM:255800 |
Arthrogryposis Multiplex Congenita 5 |
|
Death in infancy, Anteverted nares, Rocker bottom foot, Microcephaly, Hip dislocation, Wide nasal... |
OMIM:618947 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Split hand, Talipes equinovarus |
OMIM:607831 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Broad nasal tip, Microcephaly, Wide nasal bridge, Shortening of all distal phalange... |
OMIM:614749 |
Meier-Gorlin Syndrome 5 |
|
Small earlobe, Elbow dislocation, Irregular femoral epiphysis, Patellar aplasia, Slender long bon... |
OMIM:613805 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Protruding ear, Low-set ears, Atrial septal defect, Brac... |
ORPHA:776 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Nail dysplasia, Sp... |
OMIM:104100 |
Osteoglophonic Dysplasia |
|
Short metatarsal, Eruption failure, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad m... |
OMIM:166250 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Patent ductus arter... |
ORPHA:860 |
Chung-Jansen Syndrome |
|
Anteverted nares, Tapered finger, Hip dysplasia, Clinodactyly of the 5th finger, Short nose |
OMIM:617991 |
Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Short nose, Anteverted nares, Microcephaly |
ORPHA:1832 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Equinovarus deformity, Met... |
OMIM:224400 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Posteriorly rotated ears, Synophrys, Microtia, Recurrent otitis media, Thick eyebrow |
OMIM:602562 |
Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, De... |
ORPHA:87 |
Borjeson-Forssman-Lehmann Syndrome |
|
Tapered finger, Short toe, Large earlobe, Sparse hair, Abnormal hip bone morphology, Camptodactyl... |
ORPHA:127 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Microtia, Short clavicles |
OMIM:168550 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
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Medial flaring of the eyebrow, Broad eyebrow, Ulnar deviation of the hand, Ventricular septal def... |
OMIM:620113 |
Pfeiffer Syndrome |
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Finger syndactyly, Brachydactyly, Ptosis, Symphalangism affecting the phalanges of the hand, Hip ... |
ORPHA:710 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral renal hypoplas... |
ORPHA:508488 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Redundant skin, Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow greater ... |
OMIM:250220 |
3Mc Syndrome 3 |
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Corneal opacity, Highly arched eyebrow, Epicanthus inversus, Preaxial polydactyly, Horseshoe kidn... |
OMIM:248340 |
Opsismodysplasia |
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Frontal bossing, Flat occiput, Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypop... |
ORPHA:2746 |
Congenital Fibrinogen Deficiency |
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Tachycardia, Abnormality of the subungual region, Clubbing of fingers, Left ventricular hypertrop... |
ORPHA:335 |
Ritscher-Schinzel Syndrome 2 |
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Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... |
OMIM:300963 |
Treacher-Collins Syndrome |
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Hypoplasia of penis, Cataract, Absent eyelashes, Blepharospasm, Eyelid coloboma, Microphthalmia, ... |
ORPHA:861 |
Rere-Related Neurodevelopmental Syndrome |
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Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Cryptorchidism, Hip dysplasia, Blepharophi... |
ORPHA:494344 |
Achondrogenesis, Type Ia |
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Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte... |
OMIM:200600 |
Cutis Laxa, Autosomal Recessive, Type Iib |
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Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Redundant skin, Narrow nas... |
OMIM:612940 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Mixed hearing impairment, Posteriorly rotated ears, Sparse eyebrow, Sensorineural hearing impairm... |
OMIM:606164 |
Heterotaxy, Visceral, 12, Autosomal |
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Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
Van Den Ende-Gupta Syndrome |
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Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing, Knee flexion... |
OMIM:600920 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Recurrent respiratory infections, Sparse scalp hair, Toe syndactyly, Sparse eyelashes, Sparse axi... |
OMIM:129900 |
Distal 7Q11.23 Microdeletion Syndrome |
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Atrial septal defect |
ORPHA:254351 |
Periventricular Nodular Heterotopia 1 |
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Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Short finger, Clinodactyly |
OMIM:300049 |
Alopecia Antibody Deficiency |
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Recurrent respiratory infections, Abnormal eyelash morphology, Sparse hair, Conductive hearing im... |
ORPHA:1006 |
Charge Syndrome |
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Anophthalmia, Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hand monodactyly, H... |
OMIM:214800 |
Trichinellosis |
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Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea m... |
ORPHA:863 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Down-sloping shoulders, Deviation of the 5th toe, Sensorineural hearing impairment, Synophrys, Lo... |
ORPHA:391408 |
Velocardiofacial Syndrome |
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Inguinal hernia, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, Tetralogy o... |
OMIM:192430 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Finger syndactyly, Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Down-sloping sho... |
ORPHA:1974 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
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Posteriorly rotated ears, Single transverse palmar crease, Long eyelashes, Low-set ears, Atrial s... |
OMIM:615502 |
Sponastrime Dysplasia |
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Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... |
ORPHA:93357 |
Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Tapered finger, Hypoplas... |
ORPHA:2930 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
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Frontal bossing, Congenital hip dislocation, Narrow nasal ridge, Hip dislocation, Brachycephaly, ... |
OMIM:219150 |
Thoracoabdominal Syndrome |
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Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposi... |
OMIM:313850 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Vacterl Association With Hydrocephalus |
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Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Stillbirth |
OMIM:276950 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal ao... |
ORPHA:251071 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
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Ulnar claw, Hammertoe, Pes cavus, Talipes equinovarus |
OMIM:608340 |
Trichothiodystrophy 3, Photosensitive |
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Brittle hair, Ectropion, Bilateral cryptorchidism, Low-set ears, Microphthalmia, Tiger tail bandi... |
OMIM:616395 |
Noonan Syndrome 7 |
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Curly hair, Thickened helices, Low posterior hairline, Large earlobe, Deep palmar crease, Pulmoni... |
OMIM:613706 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
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Narrow nasal ridge, Underdeveloped nasal alae, Long fingers, Cortical dysplasia, Hypoplasia of th... |
OMIM:618343 |
Carey-Fineman-Ziter Syndrome |
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Cerebral calcification, Anteverted nares, Microcephaly, Aplasia of the pectoralis major muscle, G... |
ORPHA:1358 |
Zaki Syndrome |
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Sparse scalp hair, Toe syndactyly, Hypoplastic toenails, Long fingers, Sparse eyebrow, Cupped ear... |
OMIM:619648 |
Codas Syndrome |
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Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... |
ORPHA:1458 |
Al Kaissi Syndrome |
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Posteriorly rotated ears, Abnormal pinna morphology, Synophrys, Small hand, Deep palmar crease, L... |
OMIM:617694 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Thick hair, Supernumerary nipple, Low anteri... |
OMIM:615102 |
X Small Rings |
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Epicanthus, Toe syndactyly, Premature ovarian insufficiency, Tapered finger, 2-3 toe syndactyly, ... |
ORPHA:96201 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
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Overlapping toe, Sparse eyelashes, Sparse eyebrow, Abnormal cardiac septum morphology, Cutaneous ... |
OMIM:613026 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
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Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
9Q21.13 Microdeletion Syndrome |
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Hip dysplasia, Polydactyly, Long palpebral fissure, Hydronephrosis, Ptosis |
ORPHA:531151 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Bowed forearm bones, Ureteral duplication, Absent thumb, Absent radius, Ectopic kidney, Hydroceph... |
OMIM:602200 |
Cri-Du-Chat Syndrome |
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Syndactyly, Short metacarpal, Epicanthus, Abnormal pinna morphology, Single transverse palmar cre... |
OMIM:123450 |
Chromosome 5Q12 Deletion Syndrome |
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Long toe, Ventricular septal defect, Posteriorly rotated ears, Long fingers, Hypotension, Atrial ... |
OMIM:615668 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Premature graying of ... |
OMIM:113620 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Recurrent upper respiratory tract infections, Microtia |
OMIM:620137 |
Developmental And Epileptic Encephalopathy 80 |
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Increased urine alpha-ketoglutarate concentration, Death in infancy, Tapered finger, Wide nasal b... |
OMIM:618580 |
Leukodystrophy, Hypomyelinating, 10 |
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Arachnodactyly, Anteverted nares, Reduced cerebral white matter volume, Bulbous nose, Cerebral at... |
OMIM:616420 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia |
OMIM:613150 |
Epidermolysis Bullosa, Junctional 1B, Severe |
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Syndactyly, Nail dystrophy, Nail dysplasia, Death in infancy |
OMIM:226700 |
Roberts Syndrome |
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Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho... |
ORPHA:3103 |
Chromosome Xq13 Duplication Syndrome |
|
Pes planus, Metatarsus adductus, Hyperintensity of cerebral white matter on MRI, Hip dysplasia, T... |
OMIM:301069 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Femoral bowing, Tibial bowing, Knee flexion contracture, Short t... |
OMIM:601559 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Low-set, posteriorly rotated ears, Highly arched eyebrow, Tapered finger, Prominen... |
ORPHA:261311 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Single transverse palmar cr... |
OMIM:618870 |
Achondrogenesis |
|
Frontal bossing, Anteverted nares, Micromelia, Umbilical hernia, Short nose |
ORPHA:932 |
Cerebrofacioarticular Syndrome |
|
Syndactyly, Abnormal heart morphology, Microtia, Talipes equinovarus, Pulmonic stenosis, Camptoda... |
ORPHA:314679 |
Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Arachnodactyly, Ventricular septal defect, Posteriorly rotated ears, Conduc... |
OMIM:300373 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Low anterior hairline, Finger joint hypermobility, Atrial se... |
ORPHA:363705 |
Genitopatellar Syndrome |
|
Hip contracture, Sparse scalp hair, Hypoplastic ilia, Patellar aplasia, Fine hair, Radioulnar syn... |
ORPHA:85201 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Cerebellar vermis hypoplasia, Postaxial hand polydactyly, Chronic kidney disease, Hydrocephalus, ... |
OMIM:615630 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Finger syndactyly, Absent lacrimal punctum, Generalized hyperpigmentation, Sparse eyelashes, Hype... |
ORPHA:1071 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop... |
OMIM:617895 |
Charcot-Marie-Tooth Disease Type 4G |
|
Abnormality of the hand, Abnormal foot morphology, Upper limb amyotrophy, Distal upper limb muscl... |
ORPHA:99953 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Death in infancy, Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lactate, Colpoceph... |
OMIM:616034 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Talipes equinovarus |
OMIM:614399 |
Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Hypospadias, Micr... |
ORPHA:363528 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Calf muscle pseudohypertrophy, Ventriculomegal... |
ORPHA:370959 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly, Holoprosenceph... |
OMIM:601357 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... |
ORPHA:1457 |
1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Talipes equi... |
ORPHA:250999 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Radioulnar synostosis, Hypospadias |
OMIM:302905 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Overlapping toe, Protruding ear, Narrow palpebral fissure, Horizontal eyebrow, Low-se... |
OMIM:618571 |
Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Conductive hearing impairment, Low-set ears, Atrial septal defect, Clin... |
OMIM:617808 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con... |
OMIM:115250 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Unilateral renal agenesis |
OMIM:606408 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Rocker bottom foot, Low-set ears, Atrial septal defect, Patent foramen ovale, Adducted thumb |
ORPHA:89844 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Edema of the dorsum of feet, Tapered finger, Microcephaly, Hip dysplasia, Fi... |
ORPHA:544503 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Thin corpus callosum, Talipes equinovalgus, Bilateral talipes equinovarus, Periventricular white ... |
OMIM:619735 |
Aland Island Eye Disease |
|
Hypoplasia of the fovea, Albinism |
OMIM:300600 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand muscle weakness, Split ha... |
ORPHA:101097 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cer... |
ORPHA:86822 |
Trigonocephaly 1 |
|
Craniosynostosis, Microcephaly, Long penis, Wide nasal bridge, Trigonocephaly, Short nose |
OMIM:190440 |
Shukla-Vernon Syndrome |
|
Sparse hair, Long fingers, Tapered finger |
OMIM:301029 |
Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma |
OMIM:180200 |
Marden-Walker Syndrome |
|
Epicanthus, Arachnodactyly, Cryptorchidism, Radioulnar synostosis, Talipes equinovarus, Low-set e... |
OMIM:248700 |
Raine Syndrome |
|
Death in infancy, Bowing of the long bones, Hydroureter, Depressed nasal bridge, Choanal atresia,... |
OMIM:259775 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Hypoplasia of penis, Sandal gap, Depressed nasal bridge, Hydrocephalus, Abnormal... |
ORPHA:1812 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Palmoplantar keratoderma, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the... |
ORPHA:50944 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Frontal bossing, Hypospadias, Microcephaly, Short toe, Wide nasal bridge, Talipes equinovarus |
ORPHA:98791 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Long nose, Narrow greater sciatic notch, Short phalanx of finger, Broad m... |
ORPHA:508533 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Posteriorly rotated ears, Coxa valga, Tapered finger, Sensorineural he... |
OMIM:301040 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Attached earlobe, Mixed hearing impairment, Absent nipple, Tele... |
ORPHA:1299 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Perlman Syndrome |
|
Hypoplasia of penis, Anteverted nares, Wide nasal bridge, Dolichocephaly, Short nose, Bilateral s... |
ORPHA:2849 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Enuresis, Short nose, Broad nasal tip |
OMIM:613670 |
Peho Syndrome |
|
Anteverted nares, Tapered finger, Microcephaly, Hydrocephalus, Porencephalic cyst, Pedal edema, C... |
ORPHA:2836 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... |
ORPHA:570 |
Malan Syndrome |
|
Coxa valga, Long fingers, Hypoplasia of the corpus callosum, Advanced eruption of teeth, Short no... |
OMIM:614753 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormality of retinal pigmentation, Anophthalmia, Abnormal eyelash morphology, Abn... |
ORPHA:2526 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Dysmenorrhea, Cryptorchidism, Short 5th finger, Polydactyly, Ectrodactyly, Low-set ea... |
ORPHA:397590 |
Trisomy 20P |
|
Finger syndactyly, Frontal bossing, Anteverted nares, Camptodactyly of finger, Spina bifida, Tali... |
ORPHA:261318 |
Filippi Syndrome |
|
Enlarged epiphyses, Wide nose, Finger syndactyly, Frontal bossing, Prominent nasal bridge, Underd... |
ORPHA:3255 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Microcephaly, Postaxial hand polydactyly, Trigonocephaly, Short nose |
ORPHA:1702 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor... |
ORPHA:3472 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the h... |
ORPHA:3320 |
Williams Syndrome |
|
Hypoplasia of penis, Myocardial infarction, Abnormal tubulointerstitial morphology, Nephrocalcino... |
ORPHA:904 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Epicanthus, Absent nipple, Congenital hip dislocation, Low-set ears, Cubitus valgus, ... |
OMIM:104350 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect, Low-set ears, Pulmonary sequestration |
OMIM:618330 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Saul-Wilson Syndrome |
|
Narrow nasal bridge, Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Co... |
OMIM:618150 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia, Ventricular septal defect, Death in infancy |
OMIM:613730 |
Autosomal Recessive Spastic Paraplegia Type 59 |
|
Abnormal cerebral white matter morphology, Talipes equinovarus |
ORPHA:401795 |
Distal Deletion 12Q |
|
Broad hallux, Single transverse palmar crease, Overlapping toe, Prominent ear helix, Elbow flexio... |
ORPHA:96149 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Otosclerosis, Thick eyebrow, Synophrys, Upper limb undergrowth, Microtia, ... |
ORPHA:529962 |
Temple Syndrome |
|
Frontal bossing, Hydrocephalus, Small hand, Short foot, Clinodactyly of the 5th finger |
ORPHA:254516 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... |
OMIM:616629 |
Chromosome 18Q Deletion Syndrome |
|
Proximal placement of thumb, Low anterior hairline, Conductive hearing impairment, Atrial septal ... |
OMIM:601808 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Frontal bossing, Pes planus, Congenital hip dislocation, Anteverted nares, Redundant skin, Microc... |
OMIM:219200 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Ventricular septal defect, Posteriorly rotated ears, Highly arched eyebrow, Overfolde... |
OMIM:617360 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Microcephaly, Abnormal foot morphology, 2-3 toe syndactyly, Hand clenching, Bilateral talipes equ... |
OMIM:618186 |
Noonan Syndrome 10 |
|
Atrial septal defect, Curly hair, Mitral stenosis, Ventricular septal defect, Sparse eyebrow, Mit... |
OMIM:616564 |
Marshall-Smith Syndrome |
|
Brittle hair, Synophrys, Distal widening of metacarpals, Coxa vara, Aspiration pneumonia, Death i... |
OMIM:602535 |
Triploidy |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hydrocephalus, Meningocele, Abnormal cardia... |
ORPHA:3376 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Anomalous pulmonary ve... |
ORPHA:2311 |
Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Depressed nasal bridge, Microcephaly, Hip dislocation, Brachycephaly, Polycystic... |
OMIM:608776 |
Frank-Ter Haar Syndrome |
|
Abnormally large globe, Secundum atrial septal defect, Protruding ear, Short palm, Atrial septal ... |
OMIM:249420 |
Phace Association |
|
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Patent ductus arteriosus, ... |
OMIM:606519 |
Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Ventricular septal defect, Tapered fin... |
OMIM:605039 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Hypoplastic pubic ramus, Ara... |
ORPHA:280 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect, Posteriorly rotated ears, Small hand, Short foot... |
OMIM:300712 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Genu valgum, Microtia, Frontal upsweep of hair |
OMIM:617798 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Dacryocystitis, Abnormal pelvis bone ossification, A... |
ORPHA:166119 |
Alg8-Cdg |
|
Leukoencephalopathy, Cutis laxa, Talipes equinovarus, Hypoplasia of the corpus callosum, Camptoda... |
ORPHA:79325 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Sandal gap... |
ORPHA:230851 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Microcornea, Chorioretinal coloboma, Prominent fin... |
OMIM:309800 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cutaneous finger syndactyly, Short palm, Conductive hearing impairment, Hypoplastic iliac wing, A... |
OMIM:235510 |
Congenital Myopathy 24 |
|
Scapular winging, Pes cavus, Talipes equinovarus |
OMIM:617336 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Right aortic arch, Pulmonary artery hypoplasia, Double outlet right ventricle, Anomalous origin o... |
ORPHA:2326 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Epicanthus, Single transverse palmar crease, Monkey wrenc... |
OMIM:615777 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Corneal opacity, Sclerocornea, Bilateral talipes ... |
OMIM:609465 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Abnormally large globe, Secundum atrial septal defect, Rhizomelic arm shortening, Abnormal fibula... |
ORPHA:96190 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Frontal bossing, Brachydactyly, Midface retrusion, Depressed nasal bridge, Anteverted nares, Part... |
OMIM:616331 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Redundant neck skin, Hypospadias, Proximal placement of thumb, Trigonocephaly, Microcephaly, Bulb... |
OMIM:604314 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Deviation of finger, Bilateral talipes equinovarus, Congenital finger flexion con... |
ORPHA:1154 |
Noonan Syndrome 4 |
|
Curly hair, Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Sparse eyebro... |
OMIM:610733 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Sparse hair, 4-5 toe syndactyly, Thick eyebrow, Synophrys |
OMIM:611091 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Aplasia of the left hemidiaphragm |
OMIM:618238 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Reduced cerebral white matter volume, Microcephaly, Wide nasal bridge, Talipes equinovarus, Campt... |
OMIM:617333 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of ... |
ORPHA:1209 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Telecanthus, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Large earlobe, Hypopl... |
ORPHA:1236 |
Chromosome 5P13 Duplication Syndrome |
|
Posteriorly rotated ears, Single transverse palmar crease, Long fingers, Low posterior hairline, ... |
OMIM:613174 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Anteverted nares, Pro... |
ORPHA:1454 |
Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Scapular winging, Short metacarpal, Anteve... |
OMIM:272460 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Scapular winging, Congenital hip dislocation, Toe syndactyly, Single transv... |
OMIM:609625 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronar... |
ORPHA:1330 |
Chromosome 3Q29 Duplication Syndrome |
|
Pes planus, Microcephaly, Bulbous nose, Wide nasal bridge, Multiple palmar creases, Short nose |
OMIM:611936 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Cardiomegaly, Metaphyseal widening, Death in childhood, Sparse hair, Hypopigmentati... |
OMIM:252500 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Low posterior hairline, Abnormal shoulder morphology, He... |
ORPHA:2345 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Microphthalmia, Muscular dystrophy |
OMIM:615181 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... |
ORPHA:790 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Epicanthus, Optic neuropathy, Broad ischia, Optic atrophy, Diaphyseal dysp... |
OMIM:619727 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Microcephaly, Brachycephaly, Micropenis, Secondary micro... |
OMIM:614225 |
Fibrochondrogenesis 1 |
|
Frontal bossing, Hypoplastic scapulae, Depressed nasal bridge, Anteverted nares, Dumbbell-shaped ... |
OMIM:228520 |
Nablus Mask-Like Facial Syndrome |
|
Small earlobe, Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Posteri... |
OMIM:608156 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolysis involving ... |
ORPHA:371428 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Coarctation of aorta |
ORPHA:2409 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Alopecia, Abnormal pelvis bone morphology, Absent eyebrow, Camp... |
ORPHA:2273 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Epicanthus, Short hallux, Coxa valga, Curly eyelashes, L... |
ORPHA:1517 |
Warburg Micro Syndrome 3 |
|
Blepharophimosis, Low anterior hairline, Clinodactyly of the 5th finger, Microphthalmia, Macrotia... |
OMIM:614222 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Genu recurvatum, Slender long bone, Dolichocephaly, Aplasia/Hypoplasia of the c... |
ORPHA:1185 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Microcephaly, Abnormal foot morphology, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, ... |
OMIM:615599 |
Oculocerebrorenal Syndrome Of Lowe |
|
Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoac... |
ORPHA:534 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Metatarsus adductus, Widow's peak, ... |
OMIM:227330 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Redundant neck skin, Single transverse palmar crease, Subependymal cysts, Aminoacid... |
OMIM:214100 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary valve atres... |
OMIM:301030 |
Ellis Van Creveld Syndrome |
|
Micromelia, Hypoplastic toenails, Atrial septal defect, Emphysema, Atrioventricular canal defect,... |
ORPHA:289 |
Paganini-Miozzo Syndrome |
|
Microtia, Posteriorly rotated ears, Low-set ears |
OMIM:301025 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Macrotia, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
Mend Syndrome |
|
Overlapping fingers, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Long fin... |
ORPHA:401973 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Hypertrichotic hyperpigmented patch, Atrial se... |
OMIM:602782 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Epicanthus, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Fi... |
OMIM:614800 |
Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal, Protruding ear |
ORPHA:627 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Toe syndactyly, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse... |
OMIM:604292 |
Mullegama-Klein-Martinez Syndrome |
|
Curly eyelashes, Sensorineural hearing impairment, Low anterior hairline, Absent stapes, Microtia... |
OMIM:301022 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Metaphyseal widening, Re... |
OMIM:617303 |
Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Short thumb... |
OMIM:618821 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Flat occiput, Anteverted nares, Prominent nasal bridge, Choanal atresia, Depressed n... |
OMIM:123790 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Absent fingernail, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial fi... |
ORPHA:261330 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Arthrogryposis, Distal, Type 3 |
|
Ptosis, Epicanthus, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease,... |
OMIM:114300 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Rhizomelia, Depressed nasal bridge, Urinary incontinence, Megalencephaly, Redund... |
OMIM:616482 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Sensorineural hearing impairment, Cutaneous finger syndactyly, Microtia,... |
OMIM:601390 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Telecanthus, Irregular iliac crest, U... |
ORPHA:99646 |
Humeroradial Synostosis |
|
Small earlobe, Humeroradial synostosis, Microtia |
OMIM:236400 |
Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Syndactyly, Hypospadias, Choanal atresi... |
OMIM:192350 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Hypospadias, Anteverted nares, Trigonocephaly, Short nose |
OMIM:300581 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Talipes calcaneovalgus... |
ORPHA:2614 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Redundant neck skin, Proximal femoral meta... |
ORPHA:397715 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Anteverted nares, Microcephaly, Depressed nasal ridge, Renal hypoplasia,... |
ORPHA:464288 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Pes planus, Arachnodactyly, Sandal gap, Long nose, Wide nasal bridge, Hip dysplasia, Talipes equi... |
OMIM:617146 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow, Low-set ears, Hearing impairment |
OMIM:619989 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Palmoplantar keratoderma, Sparse hair, Sp... |
OMIM:618535 |
Distal 22Q11.2 Microduplication Syndrome |
|
Epicanthus, Toe syndactyly, Tricuspid regurgitation, Camptodactyly of finger, Unilateral renal ag... |
ORPHA:261337 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Bilateral talipes equinovarus, Talipes equinovarus, Adducted thumb |
OMIM:618484 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Chorioretinal coloboma, Agenesis of corpus... |
OMIM:619111 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Semilobar holoprosencephaly, Convex nasal ridge, Microcephaly |
OMIM:245552 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypospadias, Prominent nasal bridge, Craniosynostosis, Absent thumb, Micr... |
ORPHA:96097 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Long hallux, Tapered finger |
OMIM:619854 |
Marshall Syndrome |
|
Radial bowing, Depressed nasal bridge, Anteverted nares, Coxa valga, Hypoplastic ilia, Ulnar bowi... |
OMIM:154780 |
3Q29 Microdeletion Syndrome |
|
Tapered finger, Abnormality of skin pigmentation, Pulmonary arterial hypertension, Low-set ears, ... |
ORPHA:65286 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Hypoplasia of the pons, Wide nasal bridge, ... |
OMIM:616430 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Meier-Gorlin Syndrome 2 |
|
Abnormal pinna morphology, Patellar aplasia, Slender long bone, Microtia, Camptodactyly, Breast h... |
OMIM:613800 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Sparse hair, Nail dystrophy, Palmo... |
OMIM:604536 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:95706 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Frontal bossing, Arachnodactyly, Thin calvarium, Short nose, Midface retrusion |
ORPHA:1129 |
Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Iliac horns, Clinodactyly of the 5... |
OMIM:161200 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Sparse eyebrow, Bilateral cryp... |
OMIM:613451 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Conductive hearing impairment, Camptodactyly of toe, Pterygium, Dislocated... |
OMIM:265000 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Lathosterolosis |
|
Hypoplasia of penis, Toe syndactyly, Anteverted nares, Talipes, Cerebral calcification, Microceph... |
ORPHA:46059 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Peho Syndrome |
|
Edema of the dorsum of feet, Tapered finger, Hypoplasia of the corpus callosum, Short nose, Pachy... |
OMIM:260565 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... |
OMIM:607941 |
Pelger-Huet Anomaly |
|
Frontal bossing, Depressed nasal bridge, Upper limb undergrowth, Polydactyly, Short 3rd metacarpa... |
OMIM:169400 |
Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypoplastic nasa... |
OMIM:610828 |
Mosaic Trisomy 16 |
|
Syndactyly, Abnormal ear morphology, Ventricular septal defect, Single transverse palmar crease, ... |
ORPHA:1708 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Anteverted nares, Single transverse palmar crease, Mi... |
OMIM:247200 |
Bainbridge-Ropers Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Choanal stenosis, Death in i... |
OMIM:615485 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Pes planus, Syndactyly, Urinary incontinence, Microcephaly, Distal lower limb muscle weakness |
OMIM:615284 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Sandal gap, Short toe, Clinodactyly of the 5th finger, Short nose, Spina bifida... |
OMIM:617877 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Coarse hair, Thickened helices, Sparse hair, Atrial septal defect, Patent foramen ovale, Tricuspi... |
OMIM:617506 |
Jansen-De Vries Syndrome |
|
Central diaphragmatic hernia |
OMIM:617450 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Orthostatic hypotension, Ptosis |
OMIM:615510 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Arachnodactyly, Protruding ear, Mitral regurgitation, Talipes equinova... |
OMIM:301039 |
Prune1-Related Neurological Syndrome |
|
Microcephaly, Cerebral atrophy, Plagiocephaly, Bilateral talipes equinovarus, Thin corpus callosum |
ORPHA:544469 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Ptosis, Telecanthus, Abnormal pinna morphology, Proximal placement of thumb, Cryptorc... |
OMIM:217980 |
Alg12-Cdg |
|
Redundant skin, Proximal placement of thumb, Posterior plagiocephaly, Clinodactyly of the 5th fin... |
ORPHA:79324 |
Meacham Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Conotruncal defect, Anomalous pulmonar... |
ORPHA:3097 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Short thumb, Mitral valve prolapse, Mitral re... |
OMIM:612561 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Microcephaly, Dysplastic corpus callosum, Wide nasal bridge, Simplified g... |
OMIM:619179 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Hearing impairment, Aplasia of the distal phalanx of the 5th toe, Synophrys, Aplasia... |
ORPHA:364577 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Bulbous nose, Cerebellar hypoplasia, Chorioretinal colob... |
ORPHA:284169 |
Glass Syndrome |
|
Frontal bossing, Anteverted nares, Prominent nasal bridge, Anterior tibial bowing, Broad nasal ti... |
OMIM:612313 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Br... |
OMIM:277170 |
Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Small earlobe, Single transverse palmar cre... |
ORPHA:2886 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Ventricular septal defect, Camptodactyly of finger, Posteriorly rotated ears, L... |
OMIM:616920 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Hydrocephalus, Cupped ear, Low-set ears, Camptodactyly, Atrial septal defect |
OMIM:614846 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse eyebrow, Protruding ear, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... |
ORPHA:508498 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Br... |
ORPHA:1001 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Wide nose, Toe syndactyly, Depressed nasal bridge, Single transverse palmar crease, Craniosynosto... |
OMIM:300707 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Patent ductus arteriosus,... |
ORPHA:980 |
Kleefstra Syndrome 1 |
|
Natal tooth, Anteverted nares, Single transverse palmar crease, Hypospadias, Microcephaly, Persis... |
OMIM:610253 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
Pontocerebellar Hypoplasia, Type 8 |
|
Posteriorly rotated ears, Ventricular septal defect, Synophrys, Long eyelashes, Talipes equinovar... |
OMIM:614961 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Tapered finger, Broad nasal tip, Short toe, Hydrocephalus, Wide nasal bridge, Plagiocephaly, Dela... |
OMIM:239300 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Upper eye... |
ORPHA:457284 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Atrial septal defect, Sparse hair, Clinodactyly of the 5... |
OMIM:115150 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Secundum atrial septal defect, Long hallux, Clinodactyly, Recurrent lower respirat... |
OMIM:620194 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri... |
OMIM:300998 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Short foot, Deep palmar crease, Microtia, Short palm, Clinodac... |
ORPHA:363659 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Protruding ear, Pulmonary artery hyp... |
OMIM:616777 |
Lcat Deficiency |
|
Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disease, Acute kidney i... |
ORPHA:650 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Aplasia of the... |
ORPHA:2879 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308700 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, L... |
OMIM:615866 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Posteriorly rotated ears, Protruding ear, Low-set ears, Sparse hair, Simple ear |
OMIM:620001 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, Shallow orbits, Broad metacarpals, Short metacarpal, Shallow anterior chamber, ... |
OMIM:608328 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Posteriorly rotated ears,... |
OMIM:619720 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Microcephaly |
ORPHA:26 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... |
OMIM:619371 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Hypoplasia of penis, Anosmia, Genu valgum, Abnormal metacarpal morphology, Abnorma... |
ORPHA:1295 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Anophthalmia, Hypermelanotic macule, Pigmentary retinopathy,... |
ORPHA:90321 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis |
OMIM:619227 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Microtia, Low-set ears, Hearing impairment |
OMIM:619056 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Frontal bossing, Microcephaly, Bulbous nose, Hydrocephalus, Simplifi... |
OMIM:615219 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Coarctation of aorta, Aortic root aneurysm, Congenital diaphragmatic hernia, Camptodactyly |
OMIM:617602 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Microcephaly, Long nose, Bulbous nose, Wide nasal bridge, Talipes equinovarus, Cerebral cortical ... |
OMIM:613744 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Microphthalmia, Low-set ears, Hypertrichosis |
OMIM:612379 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Arachnodactyly, Prominent nasal bridge, Long palm, Tapered finger, Camptodacty... |
ORPHA:2215 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Protruding ear, Fine hair, Talipes equinovarus, L... |
OMIM:617988 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Curly hair, Sparse scalp hair, Ventricular septal defect, Posteriorly rotat... |
OMIM:607721 |
Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Anisocoria, Hammertoe, Hip dysplasia, Abnormal optic nerve morphology |
ORPHA:99949 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Gen... |
ORPHA:2221 |
Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pelvic girdle bone morphology, Abnormal tragus morpho... |
ORPHA:1133 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Iris coloboma,... |
ORPHA:536471 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Dextrocardia, Microtia, Talipes equinovarus, Low-set ears, Atrial septal defect |
OMIM:277380 |
Cree Mental Retardation Syndrome |
|
Posteriorly rotated ears, Rocker bottom foot, Cryptorchidism, Cutaneous finger syndactyly, Low-se... |
OMIM:606851 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Ptosis, Camptodactyly of finger, Low posterior hairline, Abnormal hip bone mor... |
ORPHA:1323 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... |
ORPHA:137596 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, Abnormal foot morphology |
OMIM:618218 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Sandal gap, Posteriorly rotated ears, Patellar aplasia, Stenosi... |
OMIM:616835 |
Acrocallosal Syndrome |
|
Coloboma, Clinodactyly of the 5th finger, Micropenis, Agenesis of corpus callosum, Finger syndact... |
OMIM:200990 |
Trisomy 17P |
|
Wide nose, Hypoplasia of penis, Urethral valve, Talipes, Tapered finger, Prominent nose, Microcep... |
ORPHA:261290 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int... |
OMIM:601358 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus |
OMIM:258320 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Death in infancy, Sparse eyelashes, Rocker bottom foot, Tapered finger, Pericardial effusion, Spa... |
OMIM:620070 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:139466 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Ventriculomegaly, Depressed nasal bridge, Choanal atresia, Postaxial polydactyly, Prominent nose,... |
OMIM:300968 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebellar vermis hypoplasia, 2-3 toe cutaneous syndactyly, Renal cyst, Microphallus, Vesicourete... |
OMIM:618454 |
Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Microtia, Abnormal pelvic girdle bone morphology |
ORPHA:1834 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of upper limbs, Areflexia of lower limbs, Talipes equinovarus |
OMIM:616155 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Sensori... |
ORPHA:3219 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Autosomal Recessive Robinow Syndrome |
|
Abnormal tricuspid valve morphology, Atrial septal defect, Clinodactyly of the 5th finger, Chroni... |
ORPHA:1507 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Down-sloping shoulders, Sensorineural hearing impairment, Fine hair, Sparse hair, Macrotia, Heari... |
OMIM:616817 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Cerebral cortical atrophy, Talipes equinovarus, Advanced eruption of teet... |
OMIM:617865 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polydactyly, Prominent antihe... |
OMIM:610829 |
Cardioacrofacial Dysplasia 2 |
|
Common atrium, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Lim... |
OMIM:619143 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pes planus, Congenital hip dislocation, Depressed nasal bridge, Underdeveloped nasal alae, Tapere... |
OMIM:616007 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Hearing impairment, Abn... |
ORPHA:96167 |
Smith-Mccort Dysplasia 2 |
|
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatarsal, Limited ... |
OMIM:615222 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Frontal bossing, Pes planus, Anteverted nares, Arachnodactyly, Craniosynostosis, Dolichocephaly, ... |
OMIM:182212 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Hypoplastic toenails, Dextrotransp... |
OMIM:306955 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Talipes equinovarus |
OMIM:260300 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Synophrys, Abnormal lung lobation, Atrial septal defect, Conductive hearin... |
OMIM:607872 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Hypoplasia of eyelid, Optic nerve hypoplasia, Genu valgum, Hypoplasia of the ovary, Gen... |
OMIM:619321 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Abnormal pinna mo... |
ORPHA:477817 |
19P13.13 Microdeletion Syndrome |
|
Pes planus, Depressed nasal bridge, Anteverted nares, Sandal gap, Optic nerve hypoplasia, Corpus ... |
ORPHA:357001 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal phalanx of the 5... |
OMIM:180860 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Nance-Horan Syndrome |
|
Microphthalmia, Macrotia, Short phalanx of finger, Broad finger |
OMIM:302350 |
Harel-Yoon Syndrome |
|
Frontal bossing, Short nose, Talipes equinovalgus, Hip dysplasia |
OMIM:617183 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Clinodactyly of ... |
OMIM:619539 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Endocardial fibroelastosis, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Townes-Brocks Syndrome |
|
Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th finger, Broad hallux phalanx, ... |
ORPHA:857 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Albers-Schönberg Osteopetrosis |
|
Frontal bossing, Hydrocephalus, Genu valgum, Abnormal epiphysis morphology, Abnormal metacarpal m... |
ORPHA:53 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Single transverse palmar crea... |
OMIM:607932 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia, Synophrys, Clinodactyly of the 5th... |
OMIM:618067 |
Noonan Syndrome 2 |
|
Atrial septal defect, Curly hair, Mitral stenosis, Ventricular septal defect, Posteriorly rotated... |
OMIM:605275 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Preaxial polydactyly, Radial deviation of the 3rd finger, Conjunctivitis, Triphalangeal thumb, Cl... |
OMIM:149730 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:2063 |
Penoscrotal Transposition |
|
Epicanthus, Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, A... |
ORPHA:2842 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Decreased CSF homovanillic acid concentration, Pes cavus, Talipes equinovarus |
ORPHA:101150 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Single transverse palmar crease, Broad nasal tip, Clinodactyly, Recurrent upper respiratory tract... |
ORPHA:391372 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Bowing of the long bones, Frontal bossing, Hypoplastic ilia, Flared metaphy... |
OMIM:615349 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ptosis, Telecanthus, Synophrys, Hypopigmen... |
ORPHA:3440 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Posteriorly rotated ears, Highly arched eyebrow, Overfolded helix, Low pos... |
OMIM:613563 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
16P11.2P12.2 Microdeletion Syndrome |
|
Frontal bossing, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement of... |
ORPHA:261211 |
Pontocerebellar Hypoplasia, Type 10 |
|
Ventriculomegaly, Reduced cerebral white matter volume, Underdeveloped nasal alae, Tapered finger... |
OMIM:615803 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
Desmosterolosis |
|
Frontal bossing, Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Microcephaly, Partial ag... |
OMIM:602398 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Pes cavus, Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Pes planus, Areflexia of lower limbs, Lateral ventricle dilatation, Talipes equinovarus, Hyporefl... |
OMIM:256850 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Highly arched eyebrow, Tapered finger, Synophrys... |
OMIM:609460 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Capitate-hamate fusion, Postaxial hand polyd... |
OMIM:225500 |
Cat Eye Syndrome |
|
Ventricular septal defect, Absent radius, Umbilical hernia, Hypoplastic left heart, Total anomalo... |
OMIM:115470 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Abnormal pinna morphology, Hypoplastic nipples, Small nail, Sparse hair, Arrhythmia |
OMIM:273400 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Sensorineural hearing impairment, Abnormality of hair pigmentation... |
ORPHA:90354 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormal foot morphology, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of ... |
ORPHA:397951 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Knee flexion contracture, Abnormal foot morphology, Talipes equinovarus, Camptodactyly |
OMIM:618198 |
Giant Axonal Neuropathy |
|
Abnormal hand morphology, Genu valgum, Talipes equinovarus, Pes cavus, Abnormality of the Achille... |
ORPHA:643 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Ventricular septal defect, Posteriorly rotated ears, Proximal placement of thumb, ... |
OMIM:212066 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair |
ORPHA:1810 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Calf muscle hypertrophy, Talipes equinovarus |
OMIM:616827 |
Desmosterolosis |
|
Frontal bossing, Depressed nasal bridge, Talipes, Micromelia, Abnormality of the nose, Metatarsus... |
ORPHA:35107 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Slender long bone,... |
ORPHA:561 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Metaphyseal widening, Arachnodactyly, Depressed nasal bridge, Anteverted nares, Slender long bone... |
ORPHA:536467 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Frontal bossing, Rhizomelia, Allergic rhinitis, Ulnar deviation of the wrist, Hydrocephalus, 2-3 ... |
OMIM:618162 |
Toluene Embryopathy |
|
Microcephaly, Tapered finger, Biparietal narrowing, Short nose, Hydronephrosis |
ORPHA:1920 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Microphthalmia, Abnormality of retinal pigmentation |
OMIM:251270 |
Trisomy 10P |
|
Thumb contracture, Frontal bossing, Depressed nasal bridge, Anteverted nares, Abnormality of the ... |
ORPHA:171929 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly |
ORPHA:85277 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Genu recurvatum, Split hand, Cerebral atrophy, Talipes equinovarus, Pes cavus |
OMIM:604168 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,... |
ORPHA:2788 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Barber-Say Syndrome |
|
Absent nipple, Sparse eyelashes, Extra concha fold, Hearing impairment, Sparse eyebrow, Low anter... |
OMIM:209885 |
Familial Cutaneous Collagenoma |
|
Angina pectoris, Congestive heart failure, Abnormality of skin pigmentation, Cardiomyopathy, Atri... |
ORPHA:53296 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Multiple pterygia, A... |
ORPHA:2990 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Mitral valve prolapse, Alopecia of s... |
OMIM:618874 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Wide nose, Short femur, Rhizomelia, Sandal gap, Hypospadias, Recurrent upper respi... |
OMIM:607143 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocated r... |
OMIM:268310 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair, Death in childhood |
OMIM:619985 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted... |
OMIM:612394 |
48,Xxxy Syndrome |
|
Delayed eruption of teeth, Pes planus, Hypoplasia of penis, Down-sloping shoulders, Coxa valga, E... |
ORPHA:96263 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Supernumerary nipple, Sensorineural hearing i... |
OMIM:616580 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Spina bifida, Abnormality ... |
OMIM:234100 |
White-Sutton Syndrome |
|
Patent ductus arteriosus, Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia |
OMIM:616364 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Hyperparathyroidism, Transient Neonatal |
|
Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, Short long bone, Fract... |
OMIM:618188 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Abnormality of the outer ear, Overlapping toe |
ORPHA:466926 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... |
OMIM:602418 |
Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Supernumerary nipple... |
OMIM:613884 |
Dystonia, Dopa-Responsive |
|
Pes cavus, Talipes equinovarus |
OMIM:128230 |
Leukocyte Adhesion Deficiency Type Ii |
|
Overlapping toe, Conductive hearing impairment, Recurrent pneumonia, Low anterior hairline, Broad... |
ORPHA:99843 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Contracture of the proximal interphalangeal joint of the 4th finger, Ectopia pupillae... |
OMIM:618223 |
Cranioectodermal Dysplasia 3 |
|
Frontal bossing, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 to... |
OMIM:614099 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... |
ORPHA:2237 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Alopecia, Recurrent pneumonia, Bronchiectasis, Recurrent otitis... |
OMIM:618282 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, ... |
ORPHA:1225 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Hydrocephalus, Urethral atresia, Hand ... |
OMIM:314390 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:615279 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Wieacker-Wolff Syndrome |
|
Anteverted nares, Proximal placement of thumb, Microcephaly, Hip dislocation, Cerebral atrophy, T... |
OMIM:314580 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Cerebral white matter atrophy, Secondary microcephaly, Cerebellar hypoplasia, S... |
OMIM:615042 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormal pinna morphology, Hypoplasia of... |
OMIM:184705 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Synophrys, Low anterior hairline, Coarse hair, Atrial septal defect, Condu... |
OMIM:612289 |
Teebi Hypertelorism Syndrome 1 |
|
Frontal bossing, Natal tooth, Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis... |
OMIM:145420 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Preaxial hand polydactyly, Talipes equinovarus, Renal hypoplasia |
OMIM:601389 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... |
ORPHA:185 |
Dermoodontodysplasia |
|
Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, S... |
ORPHA:1660 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Small h... |
OMIM:181405 |
Tetrasomy 18P |
|
Large hands, Short nose, Microcephaly |
ORPHA:3307 |
Monosomy 18Q |
|
Pes planus, Depressed nasal bridge, Abnormal palmar dermatoglyphics, Arachnodactyly, Prominent no... |
ORPHA:1600 |
Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Anteverted nares, Limited elbow movement, Limited knee flexion, Bulbo... |
OMIM:615065 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Epicanthus, Hypospadias, Unilateral renal agenesis, Limite... |
OMIM:151100 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Diffuse cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Primary micr... |
ORPHA:289266 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Progressive microcephaly, Talipes equinovarus, Cerebral atrophy |
OMIM:618917 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Anteverted nares, Hypospadia... |
ORPHA:261494 |
Neurocutaneous Melanocytosis |
|
Death in infancy, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous co... |
ORPHA:2481 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Multicystic kidney dysplasia, Depressed nasal bridge, Anteverted nares, Hypospadias, H... |
OMIM:257300 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Frontal balding, Syndactyly |
ORPHA:1942 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Hypopigmentation of hair, Abnormal heart m... |
ORPHA:70472 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Microcephaly, Flared met... |
OMIM:602471 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Frontal bossing, Hypospadias, Abnormal cortical gyration, Talipes equinovarus, Hypoplasia of the ... |
OMIM:177980 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, ... |
OMIM:619869 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Fair hair, Tricuspid regurgitation, Congestive h... |
OMIM:302060 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Sparse facial hair, Sparse eyelashes, Sparse eyebrow, Metaphyseal widening... |
OMIM:250250 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Aplastic clavicle, Elb... |
ORPHA:2554 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Distal lower limb muscle weakness, Talipes equinovarus |
ORPHA:466794 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Short nose, Brachycephaly, Microcephaly |
OMIM:615419 |
Microtia-Anotia |
|
Microtia, Anotia, Holoprosencephaly |
OMIM:600674 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Absent phalangeal crease, Bila... |
OMIM:108145 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Unilateral deaf... |
ORPHA:1010 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Prominent nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Hypopl... |
OMIM:300749 |
Ruijs-Aalfs Syndrome |
|
Down-sloping shoulders, Single transverse palmar crease, Elbow flexion contracture, Premature gra... |
OMIM:616200 |
D-Bifunctional Protein Deficiency |
|
Frontal bossing, Ventriculomegaly, Depressed nasal bridge, Cerebral dysmyelination, Corpus callos... |
OMIM:261515 |
Frontoocular Syndrome |
|
Atrial septal defect, Low-set ears, Pulmonic stenosis, Posteriorly rotated ears |
OMIM:605321 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Depressed nasal ridge, Patellar hypoplas... |
OMIM:114290 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Anteverted nares, Agenesis of cerebellar vermis, Cran... |
OMIM:601853 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
X-Linked Intellectual Disability, Nascimento Type |
|
Abnormal hair whorl, Synophrys, Patent foramen ovale, Generalized hirsutism, Mitral stenosis, Tet... |
ORPHA:163956 |
Mandibuloacral Dysplasia |
|
Alopecia, Abnormally large globe, Abnormality of skin pigmentation, Osteolytic defects of the dis... |
ORPHA:2457 |
Diaphanospondylodysostosis |
|
Depressed nasal bridge, Depressed nasal ridge, Horseshoe kidney, Narrow pelvis bone, Hammertoe, T... |
OMIM:608022 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Partial anomal... |
OMIM:619657 |
Campomelic Dysplasia |
|
Bowing of the long bones, Depressed nasal bridge, Small abnormally formed scapulae, Hip dislocati... |
ORPHA:140 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm |
OMIM:618901 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter,... |
OMIM:615398 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Turricephaly, Single transverse palmar crease, Dolichocephaly, Metatarsus adductus, Death in chil... |
OMIM:214110 |
Basal Cell Nevus Syndrome 1 |
|
Frontal bossing, Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Plantar pits, ... |
OMIM:109400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Epicanthus, Postaxial polydactyly, Synophrys, Proximal renal tubular acidosis, Upslanted palpebra... |
OMIM:615824 |
Serotonin Syndrome |
|
Tachycardia, Hypertension, Hypotension, Acute kidney injury, Mydriasis |
ORPHA:43116 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Synophrys, Otitis media... |
OMIM:122470 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Hydrocephalus, Coloboma, Hypoplasia of the brainstem, Progressive microcephaly, Lis... |
OMIM:615249 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Sensorineural hearing impair... |
ORPHA:49827 |
Adult Syndrome |
|
Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, Sparse axillary hair, Split hand, Na... |
OMIM:103285 |
Central Core Disease |
|
Pes planus, Rectus femoris muscle atrophy, Congenital hip dislocation, Talipes equinovarus |
ORPHA:597 |
Sotos Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Sparse eyebrow, Conductive hearing impairmen... |
OMIM:117550 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Aminoaciduria, Microcephaly |
ORPHA:833 |
Lelis Syndrome |
|
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Palmoplantar hyperkeratosis, Na... |
ORPHA:140936 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Talipes, Microcephaly, Postaxial hand polydactyl... |
ORPHA:2166 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery sten... |
OMIM:600001 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Pes planus, Arachnodactyly, Prominent ... |
OMIM:616914 |
Koolen-De Vries Syndrome |
|
Atrial septal defect, Fair hair, Bicuspid aortic valve, Ventricular septal defect, Abnormality of... |
OMIM:610443 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Abnormal pinna morphology, Supernumerary nipple, Secundum atrial septal defect, Contracture of th... |
OMIM:618109 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Midnasal stenosis, Anteverted nares, Choanal atresia, C... |
ORPHA:280200 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Entropion, Proxi... |
ORPHA:1896 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Prominent inferior crus of antihelix, Broad hallux, Overlapping toe, Sandal gap, Recur... |
OMIM:618332 |
15Q Overgrowth Syndrome |
|
Turricephaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly... |
ORPHA:314585 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ventricular septal defect, Hydrocephalus, Partial duplicat... |
OMIM:164210 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Overriding aorta, Congenital diaphragmatic hernia |
OMIM:309801 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Single transverse palmar crease, Protruding ear, Sparse hair, Rhizomelia, ... |
OMIM:218330 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Umbilical hernia |
OMIM:273390 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Frontal bossing, Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Flat capita... |
OMIM:271510 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Cryptorchidism, Split hand, Ankyloblepharon, Popliteal pterygi... |
ORPHA:1300 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Microtia |
OMIM:619817 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Sensorineural hearing impairment, Blue irides, Hy... |
OMIM:613266 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose, Postaxial hand polydactyly |
ORPHA:1389 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short foot, Small hand, Sparse body hair |
OMIM:300869 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Anisocoria, Intracranial hemorrhage, Male urethral meatus stenosis, ... |
OMIM:613406 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Hearing impairment, Alo... |
OMIM:301043 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Abnormal pupil morphology, Calcaneovalgus deformity, Microcornea, Vesicoure... |
ORPHA:261552 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Pes planus, Frontal bossing, Microcephaly, Renal cyst, Colpocephaly, Talipes equinovarus, Hypopla... |
OMIM:617260 |
Mesomelia-Synostoses Syndrome |
|
Ptosis, Telecanthus, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Hearing... |
OMIM:600383 |
Orofaciodigital Syndrome I |
|
Syndactyly, Dry hair, Alopecia, Hearing impairment, Myelomeningocele, Hydrocephalus, Abnormal hea... |
OMIM:311200 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Palmar tel... |
ORPHA:69735 |
Monosomy 13Q34 |
|
Posteriorly rotated ears, Epistaxis, Postaxial hand polydactyly, Abnormal earlobe morphology, Pos... |
ORPHA:96168 |
Perrault Syndrome 1 |
|
Pes cavus, Talipes equinovarus |
OMIM:233400 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ptosis, Posteriorly rotated ears, Tarsal synostosis, Multiple pterygia, Elbow fl... |
OMIM:178110 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Flexion contracture, Optic nerve hypoplasia |
OMIM:614833 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Midface retrusion, Microcephaly |
DECIPHER:52 |
Lamellar Ichthyosis |
|
Recurrent respiratory infections, Sparse hair, Abnormal helix morphology, Chronic otitis media, A... |
ORPHA:313 |
Hurler Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Hypoplasia of the femoral head, Broad ... |
OMIM:607014 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... |
OMIM:619351 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia |
ORPHA:1780 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Tapered finger, Pulmonary art... |
ORPHA:435938 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Congenital diaphragmatic hernia, Arterial tortuosity, Aortic root aneurysm, Gene... |
OMIM:614437 |
Oculoskeletodental Syndrome |
|
Epicanthus, Renal agenesis, Elbow flexion contracture, Hypercalciuria, Developmental cataract, La... |
OMIM:618440 |
Fryns Syndrome |
|
Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Proximal placem... |
OMIM:229850 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal pinna morphology, Protruding ear, Abnormal hip bone morphology, Clinodactyly of the 5th ... |
ORPHA:3068 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Posteriorly rotated ears, Aplasia of the distal phalanx of the 5th toe... |
OMIM:608670 |
Zttk Syndrome |
|
Aortic regurgitation, Epicanthus, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Small hand... |
OMIM:617140 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Reduced cerebral white matter volume, Brachycephaly, Palmoplantar hyperkeratosis, Chorioretinal c... |
OMIM:280000 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Flat occiput, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Simplified g... |
ORPHA:300570 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Renpenning Syndrome 1 |
|
Atrial septal defect, Brittle hair, Ventricular septal defect, Situs inversus totalis, Macrotia, ... |
OMIM:309500 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Low a... |
ORPHA:124 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Microcephaly, Postaxial hand polydactyly, Hydrocephalu... |
ORPHA:2075 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive... |
ORPHA:363618 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Fine hair, Pulmonary fibrosis, Sparse hair |
ORPHA:1839 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Depressed nasal bridge, Anteverted nares, Single transverse palma... |
OMIM:619743 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Brachydactyly, Prominent nasal bridge, Microcephaly, Recurrent upper respiratory tract infections... |
OMIM:300534 |
Larsen Syndrome |
|
Finger syndactyly, Short nail, Cryptorchidism, Accessory carpal bones, Abnormal epiphysis morphol... |
ORPHA:503 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Microphthalmia, Cafe-au-lait... |
OMIM:600901 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Finger syndactyly, Microtia, third degree, Posteriorly rotated ... |
ORPHA:2753 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Hypopigmentation of hair, Telangiectasia of the skin, Premature... |
ORPHA:100 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Telecanthus, Abnormal fingernail morphology, Adactyly, Split ha... |
ORPHA:989 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Upper limb asymmetry, ... |
ORPHA:90308 |
Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Meningocele, Abnormal tricuspid valve morphology, Camptodactyly of finger |
ORPHA:1759 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Wide nose, Single transverse palmar crease, Epistaxis, Microcephaly, Bulbous nose, Patellar aplas... |
ORPHA:495818 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Dermal translucency, Congenital hip dislocation, Cerebellar vermis hyp... |
ORPHA:2962 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Alopecia, Fair hair, Cardiomegaly, Sensorineural hearing imp... |
ORPHA:79330 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Patent foramen ovale, Synostosis of carp... |
ORPHA:221120 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Microcephaly, Cerebral atrophy, P... |
OMIM:617802 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Turricephaly, Cloverleaf skull, Depressed nasal bridge, Anteverted nares, Choanal atresia, Cranio... |
ORPHA:1555 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Optic nerve hypoplasia, Sparse eyebrow, Reduced hair sulfur cont... |
OMIM:300953 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Mend Syndrome |
|
Redundant neck skin, Broad hallux, Prominent nasal bridge, Overlapping toe, Long fingers, Bulbous... |
OMIM:300960 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial apla... |
ORPHA:476126 |
Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Microtia, Pulmonary hypoplasia, Low-set ears, Neonatal death |
OMIM:608013 |
Prader-Willi Syndrome |
|
Short palm, Hypopigmentation of the skin, Iris hypopigmentation, Syndactyly, Hypogonadotropic hyp... |
OMIM:176270 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris... |
ORPHA:352731 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Myelomeningocele, Abnormal tibia ... |
ORPHA:93929 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Pallor |
OMIM:615631 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Pes planus, Bowing of the long bones, Arachnodactyly, Single transverse palmar crease, ... |
OMIM:130070 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Cerebral white matter atrophy, Edema of the dorsum of fe... |
ORPHA:521426 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Tapered finger, Bulbous nose, Abnormal cerebral white matter morphology, Talipes equinovarus, Hyp... |
OMIM:614501 |
Holoprosencephaly 14 |
|
Frontal bossing, Ventriculomegaly, Anteverted nares, Absent septum pellucidum, Proboscis, Alobar ... |
OMIM:619895 |
Chops Syndrome |
|
Curly hair, Ventricular septal defect, Thick hair, Hearing impairment, Synophrys, Anomalous pulmo... |
OMIM:616368 |
Papillon-Lefèvre Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Abnormal fingernail morphology, Hypopigmented s... |
ORPHA:678 |
Alazami Syndrome |
|
Atrial septal defect, Slender long bone, Sparse eyebrow, Low-set ears |
ORPHA:319671 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Flat occiput, Anteverted nares, Renal insufficiency, Absent septum pellucidu... |
ORPHA:96147 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Hydrocephalus, Slender toe, Dolichocephaly, Dandy-Walker malformation |
OMIM:310400 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis |
OMIM:613834 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, La... |
OMIM:271640 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Methylmalonic aciduria, Unilateral renal agenesis |
ORPHA:79284 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu... |
ORPHA:1190 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Epicanthus, Posteriorly rotated ears, Abnormal pinna morphology, Blepharophimosis, Cr... |
OMIM:616975 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Turricephaly, Arachnodactyly, Scaphocephaly, Cerebral atrophy, Talipes equinovarus |
OMIM:619036 |
Bazex-Dupre-Christol Syndrome |
|
Trichorrhexis nodosa, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Hyperpigmentation ... |
OMIM:301845 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Multiple Sulfatase Deficiency |
|
Broad hallux, Anteverted nares, Hydrocephalus, Cerebral atrophy, Mucopolysacchariduria, Abnormal ... |
OMIM:272200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Buphthalmos... |
OMIM:236670 |
Orofaciodigital Syndrome Type 1 |
|
Clinodactyly of the 5th finger, Agenesis of corpus callosum, Dandy-Walker malformation, Finger sy... |
ORPHA:2750 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Inguinal hernia, Anophthalmia |
ORPHA:2250 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Talipes equinovarus |
OMIM:619465 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Secondary microcephaly, Frontal cortical atrophy, Hypoplasia... |
OMIM:618437 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Congenital diaphragmatic hernia |
OMIM:611812 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Microcephaly, Hemolytic-uremic syndrome, Hydrocephalus, Abnormal cerebral white matte... |
ORPHA:2169 |
Mucopolysaccharidosis, Type Ivb |
|
Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal wi... |
OMIM:253010 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
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Sensorineural hearing impairment, Lobar holoprosencephaly, Microtia, Neonatal death, Low-set ears... |
OMIM:618500 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Atrial septal defect... |
OMIM:304120 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Thick cerebral cortex, Congenital hip dislocation, Anteverted nares, Redundant neck skin, Redunda... |
ORPHA:357074 |
Trisomy 8P |
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Short fourth metatarsal, Single transverse palmar crease, Nephrocalcinosis, Clinodactyly of the 5... |
ORPHA:264450 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Hammertoe, Pes cavus, Talipes equinovarus |
OMIM:601596 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Frontal bossing, Aplasia of the nasal bone, Brachydactyly, Midface ret... |
OMIM:601812 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Frontal bossing, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dolichoceph... |
OMIM:619005 |
Spondyloocular Syndrome |
|
Long toe, Overlapping toe, Arachnodactyly, Femur fracture, Posteriorly rotated ears, Long fingers... |
OMIM:605822 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Autoamputation of digits, Palmoplantar keratoderma, Nail dystrophy, Nai... |
OMIM:614594 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
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Cerebral white matter atrophy, Microcephaly, Dilated third ventricle, Hydrocephalus, Small hand, ... |
ORPHA:500055 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Femoral bowing, Foot oligodactyly, Long ear, Aplasia/Hypoplasia of the tarsal bones, Phocomelia, ... |
OMIM:276820 |
Fanconi Anemia, Complementation Group C |
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Epicanthus, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorchid... |
OMIM:227645 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Craniosynostosis, Optic disc coloboma, Brachycephaly, Choanal... |
ORPHA:1790 |
Galloway-Mowat Syndrome |
|
Camptodactyly of finger, Aqueductal stenosis, Hypoplasia of the ear cartilage, Macrotia, Adducted... |
ORPHA:2065 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Death in early adulthood, Alopecia, Brittle hair, Osteolytic defects of the distal phalanges of t... |
OMIM:608612 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Genu valgum, Premature g... |
OMIM:612199 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
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Frontal bossing, Pes planus, Depressed nasal bridge, Optic nerve hypoplasia, 2-3 toe cutaneous sy... |
OMIM:620029 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Microcephaly |
ORPHA:2598 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Epicanthus, Hypopigmentation of hair, Single transverse palmar crease, Cafe-au-lait spot, Hypopig... |
OMIM:618541 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Abnormality of skin pigmenta... |
OMIM:227650 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
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Talipes equinovarus |
OMIM:616719 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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Brittle hair, Short long bone, Short palm, Atrial septal defect, Arrhythmia, Patent foramen ovale... |
OMIM:619184 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Mitral regurgitation,... |
OMIM:615879 |
Warburg Micro Syndrome 4 |
|
Cryptorchidism, Low anterior hairline, Microphthalmia, Decreased testicular size, Hirsutism, Ptosis |
OMIM:615663 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Hermansky-Pudlak Syndrome 4 |
|
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Pulmonary fibrosis |
OMIM:614073 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Hearing ... |
OMIM:616894 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Thickened calvaria, Finger syndactyly, Abnormal penis morphology, Hypospadias, Choanal atresia, A... |
ORPHA:2658 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Sensorineural hearing impairment, Neoplasm of the lung,... |
ORPHA:659 |
Craniofrontonasal Syndrome |
|
Ridged nail, Split nail, Curly hair, Toe syndactyly, Broad hallux, Down-sloping shoulders, Unilat... |
OMIM:304110 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Atresia of the external auditory canal, Low-... |
ORPHA:2328 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Abnormal long bone morphology, Otitis media, Conductive hearing impairment,... |
ORPHA:576 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Small hand, Short foot, Low-set ears, Short palm, Micro... |
OMIM:241410 |
Opsismodysplasia |
|
Frontal bossing, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Metaphys... |
OMIM:258480 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Proximal placement of thumb, Highly arched eyebrow, Secundum atrial septal defect, 2-3 toe syndac... |
OMIM:619121 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Albinism, Neonatal death, He... |
OMIM:600501 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Knee flexion contracture, Cutaneous finger syndactyly, C... |
OMIM:151050 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Frontal bossing, Talipes, Achilles tendon contracture, Scaphoc... |
OMIM:620351 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Midface retrusion, Multicystic kidney dysplasia, Long foot, Abnormal thumb morphology, Metatarsus... |
ORPHA:500095 |
Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Elbow flexion contracture, Coxa ... |
OMIM:259450 |
Bathing Suit Ichthyosis |
|
Alopecia, Autoamputation of digits, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair |
ORPHA:100976 |
Degcags Syndrome |
|
Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, At... |
OMIM:619488 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Optic nerve hypoplasia, Broad nasal tip, Hypoplasia of the pons, Microcephaly, Hydrocephalus, Wid... |
OMIM:620157 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Pulmonic stenosis, Absent thumb |
OMIM:619239 |
Developmental And Epileptic Encephalopathy 89 |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Cerebral atrophy, Limb undergrowth, ... |
OMIM:619124 |
Nasu-Hakola Disease |
|
Cerebral calcification, Hydrocephalus, Abnormal epiphysis morphology, Cerebral cortical atrophy, ... |
ORPHA:2770 |
Chime Syndrome |
|
Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... |
ORPHA:3474 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Single transverse palmar crease, Prominent nose, Co... |
OMIM:180849 |
Optic Atrophy 11 |
|
Optic nerve hypoplasia, Microcephaly, Leukoencephalopathy, Bilateral talipes equinovarus, Cerebel... |
OMIM:617302 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Sparse scalp hair, Ventricular septal defect, Mitral atresia, Hypertrichosi... |
OMIM:614609 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Hypoplasia of penis, Anteverted nares, Microcephaly, Depressed nasal ridge, Hyd... |
ORPHA:847 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Ridged nail, Alopecia, Supernumerary nipple, Retinal hemorrhage, Nail pi... |
OMIM:308300 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Adducted thumb |
ORPHA:275543 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hip dislocation, Buphthalmos, Limb undergrowth, Atrial septal defect, Recurrent lower respiratory... |
OMIM:618005 |
Halperin-Birk Syndrome |
|
Umbilical hernia, Inguinal hernia, Flexion contracture, Congenital diaphragmatic hernia |
OMIM:618651 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Progressive leukoencephalopathy, Ventriculomegaly, Rocker bottom foot, Single transverse palmar c... |
OMIM:617527 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Sparse eyebrow, Mitra... |
ORPHA:444072 |
Down Syndrome |
|
Sandal gap, Bilateral single transverse palmar creases, Conductive hearing impairment, Sparse hai... |
ORPHA:870 |
Larsen Syndrome |
|
Frontal bossing, Short metacarpal, Depressed nasal bridge, Spatulate thumbs, Elbow dislocation, T... |
OMIM:150250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Anteverted nares, Single transverse palmar crease, Promi... |
OMIM:309583 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Abnormality of the hum... |
ORPHA:3186 |
Micro Syndrome |
|
Hypoplasia of penis, Cerebellar vermis hypoplasia, Anteverted nares, Microcephaly, Wide nasal bri... |
ORPHA:2510 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Patent ductus arteriosus, Microphthalmia |
OMIM:206900 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Plantar flexion contracture, Talipes equinovarus, Absent Achilles reflex |
OMIM:620011 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Depressed nasal bridg... |
ORPHA:235 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge, Communicating hydrocephalus |
ORPHA:1861 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Talipes equinovarus |
OMIM:209770 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Atrial septal defect, Sparse hai... |
OMIM:218040 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ventriculomegaly, Single transverse palmar crease, Broad nasal tip, Hypoplasia of the pons, Hydro... |
OMIM:614969 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Pes cavus, Talipes equinovarus |
OMIM:255200 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Clinodactyly of the 5th fi... |
ORPHA:373 |
C Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Toe syndactyly, Depressed nasal bridge, Anteverte... |
ORPHA:1308 |
Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctat... |
ORPHA:2745 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Macrodactyly, 2-4 toe syndactyly, Microtia, Foot polydactyly |
ORPHA:276280 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Tapered finger, Cupped ear, Flat acetabular roof, Short femoral neck, ... |
OMIM:617159 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Curly hair, Arachnodactyly, Mitral valve prolapse, Prominent fingertip pads |
OMIM:300986 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Chronic otitis media, Talipes cavus equinovarus, Synophrys, Prominent protruding coccyx, Protrudi... |
OMIM:300966 |
Fanconi Anemia, Complementation Group D2 |
|
Absent thumb, Absent radius, Short thumb, Hydrocephalus, Preaxial hand polydactyly, Partial dupli... |
OMIM:227646 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Congenital hip dislocation, Renal insufficiency, Hydroureter, Abnor... |
ORPHA:2970 |
Atelis Syndrome 2 |
|
Epicanthus, Single transverse palmar crease, Protruding ear, Low-set ears, Microphthalmia, Clinod... |
OMIM:620185 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Cupped ear, Protruding ear, Nail dystrophy, Atrial septal defect |
ORPHA:93947 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Short metatarsal, Low anterior hairline, Finge... |
OMIM:617137 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Coloboma, Anteverted nares |
OMIM:166750 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Aortic regurgitation, Abnormal lung loba... |
ORPHA:1052 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
Cardioacrofacial Dysplasia 1 |
|
Overhanging nasal tip, Postaxial polydactyly, Genu valgum, Limb undergrowth, Midface retrusion |
OMIM:619142 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Prominent nose, Clinodactyly of the 5th finger, Short tibia, Short p... |
OMIM:268305 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Talipes equinovarus, Absent phalangeal crease, Tarsal synostosis |
OMIM:618469 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Polydactyly, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616307 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Frontal bossing, Congenital hip dislocation, Narrow nasal ridge, Microcephaly, Aqueductal stenosi... |
OMIM:619512 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal phalanges of the ... |
OMIM:271665 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Congenital hip dislocation, Long palm, Single transverse palmar crease, Ven... |
OMIM:244450 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Secundum atrial septal defect, Cafe-au-lait spot, Uplifted earlobe |
OMIM:620183 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Congenital hip dislocation, Plagiocephaly, Abnormal cerebral white matter morpho... |
ORPHA:457279 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Atrial septal defect, Ventricular septal defect, Single interphalang... |
OMIM:257920 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Talipes equinovarus, Periventricular ... |
OMIM:619493 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly |
ORPHA:544254 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Facial palsy |
OMIM:615085 |
Congenital Tracheomalacia |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Right aortic arch, Abnormal ... |
ORPHA:95430 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Laryngeal Abductor Paralysis |
|
Talipes equinovarus, Microcephaly |
OMIM:150260 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Cerebral calcification, Bulbous nose, Metaphyseal widening, Hydrocephalus, Diap... |
OMIM:618476 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Frontal bossing, Diffuse cerebral atrophy, Xanthine nephrolithiasis, Increased urinary sulfite le... |
OMIM:252160 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Depressed nasal bridge, Bowed humerus, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Broad hallux, 1-2 toe syndactyly, Ventricular septal defect, Tapered finger, Posteriorly rotated ... |
OMIM:301044 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Pes planus, Brachydactyly, Flat occiput, Anteverted nares, Overlapping toe, ... |
ORPHA:177907 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short metat... |
OMIM:261540 |
Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Cleft helix, External ear malformat... |
ORPHA:137888 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Microcephaly, Myelomeningocele, Postaxial hand polydactyly, Wid... |
OMIM:607330 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Toe syndactyly, Microcephaly, Bilateral camptodactyly, Talipes equinovarus, Hypoplasia of the cor... |
OMIM:619234 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Pate... |
ORPHA:2257 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Calf muscle hypertrophy, Scapular muscle atrophy, Peroneal muscle weakness, Talipes equinovarus |
OMIM:611588 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Short ... |
ORPHA:1519 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Short nose |
ORPHA:2429 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Neonatal death, Death in infancy, Talipes equinovarus, Camptodactyly |
OMIM:608104 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Decreased CSF copper concentration, Glandular hypospadias, Cerebral atrophy, Increas... |
OMIM:620306 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring alopecia of sc... |
ORPHA:59303 |
1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Abnormal heart valve morphology, ... |
ORPHA:1606 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
Bloom Syndrome |
|
Syndactyly, Recurrent upper respiratory tract infections, Bronchiectasis, Spotty hypopigmentation... |
OMIM:210900 |
Hurler Syndrome |
|
Death in infancy, Frontal bossing, Depressed nasal bridge, Anteverted nares, Camptodactyly of fin... |
ORPHA:93473 |
Rett Syndrome, Congenital Variant |
|
Pes planus, Depressed nasal bridge, Bulbous nose, Simplified gyral pattern, Talipes equinovarus, ... |
OMIM:613454 |
Coffin-Siris Syndrome |
|
Hypoplastic fifth toenail, Sparse scalp hair, Thick eyebrow, Ventricular septal defect, Hypoplast... |
ORPHA:1465 |
Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Inguinal hernia, Congenital diaphragmatic hernia |
OMIM:614294 |
Megalencephaly |
|
Atrial septal defect, Genu valgum |
ORPHA:2477 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Bicuspid aortic valve, Arachnodactyly, Abnormality of hair texture, Hip... |
ORPHA:96169 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca... |
ORPHA:90068 |
Osteopetrosis, Autosomal Recessive 2 |
|
Persistence of primary teeth, Hydrocephalus, Cranial hyperostosis, Diaphyseal sclerosis, Genu val... |
OMIM:259710 |
Mirage Syndrome |
|
Hypospadias, Rocker bottom foot, Radial club hand, Hydrocephalus, Talipes equinovarus, Microphall... |
OMIM:617053 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Neurogenic bladder, Cerebral atrophy, Excessive wrinkled skin, Hypop... |
OMIM:608779 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Atrial septal defect, Hypoplasia of the cochlea, Clinodactyly o... |
ORPHA:251061 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Optic nerve hypoplasia, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary arte... |
OMIM:620025 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Ptosis, Telecanthus, Polydactyly, Downslanted palpebral fissures, Sparse lateral eyebrow |
ORPHA:314655 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Microlissencephaly-Micromelia Syndrome |
|
Bilateral single transverse palmar creases, Micromelia, Lissencephaly, Secondary microcephaly, Ce... |
ORPHA:50810 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Renal hypoplasia, Hypoplasia of the corpus callosum, Vesicoureteral reflux, Sho... |
OMIM:613735 |
Bosma Arhinia Microphthalmia Syndrome |
|
Abnormal pinna morphology, Hypogonadotropic hypogonadism, Absent tragus, Cryptorchidism, Synophry... |
OMIM:603457 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Microcephaly, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Wide nasal bridge,... |
OMIM:614886 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Sensorineural hearing impairment, Cardiomyopat... |
OMIM:249270 |
Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Dermotrichic Syndrome |
|
Frontal bossing, Short nose, Aminoaciduria, Depressed nasal bridge |
ORPHA:99688 |
Grange Syndrome |
|
Syndactyly, Renovascular hypertension, Finger clinodactyly, Renal artery stenosis, Brachydactyly |
OMIM:602531 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyly, Alopecia, C... |
ORPHA:3107 |
Fetal Hydantoin Syndrome |
|
Microcephaly, Depressed nasal ridge, Triphalangeal thumb, Short nose, Short distal phalanx of finger |
ORPHA:1912 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Sclerocornea, Proximal placement of thumb, Iris coloboma, Finger syndactyly,... |
ORPHA:818 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Long fingers, Talipes equinovarus, Pes cavus |
ORPHA:169186 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Joint contracture, Congenital diaphragmatic hernia |
OMIM:615919 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
Carney Complex, Type 1 |
|
Cardiac myxoma, Congestive heart failure, Multiple lentigines, Red hair, Freckling, Profuse pigme... |
OMIM:160980 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inve... |
OMIM:208530 |
Alg9-Cdg |
|
Abnormal lung lobation, Right ventricular dilatation, Large fleshy ears, Narrow greater sciatic n... |
ORPHA:79328 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Perlman Syndrome |
|
Hypoplasia of the abdominal wall musculature, Interrupted aortic arch, Congenital diaphragmatic h... |
OMIM:267000 |
Ring Chromosome 7 Syndrome |
|
Anteverted nares, Prominent nasal bridge, Single transverse palmar crease, Hypospadias, Microceph... |
ORPHA:1449 |
Carey-Fineman-Ziter Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Tapered finger, Broad nasal tip, Microcephaly, Plagioce... |
OMIM:254940 |
Rabson-Mendenhall Syndrome |
|
Ventricular septal defect, Thick hair, Onychauxis, Low anterior hairline, Premature graying of ha... |
ORPHA:769 |
Aicardi-Goutières Syndrome |
|
Raynaud phenomenon, Developmental glaucoma, Micropenis, Eyelid coloboma, Hypertrophic cardiomyopa... |
ORPHA:51 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic nerve hypoplasia, Positional foot deformity, Hip dysplasia, 3-Methylglutaconic aciduria, Sh... |
ORPHA:496790 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Globus pallidus calcification, Wide nasal bridge, Short nose |
OMIM:620292 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Mucopolysaccharidosis, Type Vii |
|
Metatarsus adductus, Heparan sulfate excretion in urine, Hydrocephalus, Recurrent upper respirato... |
OMIM:253220 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Atrial septal defect, Sp... |
ORPHA:2911 |
Kagami-Ogata Syndrome |
|
Large placenta, Frontal hirsutism, Microtia, Coxa valga |
ORPHA:254519 |
Neonatal Marfan Syndrome |
|
Long toe, Iridodonesis, Tricuspid regurgitation, Arachnodactyly, Ectopia lentis, Long fingers, He... |
ORPHA:284979 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve |
OMIM:617744 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Depressed nasal bridge, Anteverted nares, Microcephaly, Hydrocephalus, Muco... |
ORPHA:585 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Sclerocornea, Blepharophimosis, ... |
OMIM:188400 |
Hajdu-Cheney Syndrome |
|
Wide nose, Coarse metaphyseal trabecularization, Anteverted nares, Brachydactyly, Bowing of the l... |
ORPHA:955 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Crumpled long bones, Bowing of the long bones, Turr... |
ORPHA:2050 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Palmar pits, Hydrocephalus, Plantar pits, Polydactyly, Calcification o... |
ORPHA:77301 |
Macrocephaly/Autism Syndrome |
|
Frontal bossing, Depressed nasal bridge, Penile freckling, Cutis laxa, Biparietal narrowing, Shor... |
OMIM:605309 |
Alexander Disease Type I |
|
Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morphology, Hydrocepha... |
ORPHA:363717 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Postaxial polydactyly, Hydrocephalus, Renal corticomedullary cysts, Ventricu... |
OMIM:219730 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Pes planus, Optic nerve hypoplasia, Postaxial polydactyly, Broad nasal tip, Underdeveloped nasal ... |
ORPHA:352665 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Pes planus, Optic nerve hypoplasia, Postaxial polydactyly, Broad nasal tip, Underdeveloped nasal ... |
ORPHA:453504 |
Joubert Syndrome 3 |
|
Atrial septal defect, Pigmentary retinopathy, Highly arched eyebrow, Low-set ears |
OMIM:608629 |
Pagod Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Pulmonary artery hypoplasia, Abnormal aortic morpho... |
ORPHA:991 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Congestive heart failure... |
ORPHA:2108 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Iris transillum... |
OMIM:619172 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Single transverse palmar crease, Synophrys, Protruding ear, Atrial septal ... |
OMIM:612474 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Midface retrusion, Short nose |
OMIM:614744 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Depressed nasal bridge, Proteinuria, Bulbous nose, Wide nasal bridge, Stage ... |
OMIM:242900 |
White-Sutton Syndrome |
|
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia |
ORPHA:468678 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Ptosis, Mydriasis |
ORPHA:79138 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Ventricular s... |
OMIM:600373 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261197 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Hearing impairment, Hip dysplasia, Low-set ears, Atr... |
OMIM:208085 |
Mowat-Wilson Syndrome |
|
Cataract, Hypospadias, Abnormality of the kidney, Microcornea, Ectopia pupillae, Chorioretinal co... |
OMIM:235730 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
B4Galt1-Cdg |
|
Redundant neck skin, Hydrocephalus, Wide nasal bridge, Cerebellar hypoplasia, Dandy-Walker malfor... |
ORPHA:79332 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Single transverse palmar crease, Atrial septal defect, Death in infancy, Tricuspid regurgitation,... |
OMIM:614866 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Hydroureter, Congenital posterior urethral valve, Talipes equinovarus... |
OMIM:100100 |
Superficial Siderosis |
|
Anisocoria, Functional abnormality of the bladder, Internal hemorrhage, Subarachnoid hemorrhage |
ORPHA:247245 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Posteriorly rotated ears, Sparse eyebrow, Long fingers, Frontal upswee... |
OMIM:617557 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Pigmentary retinopathy, Abnormality of the ear, Broad palm |
OMIM:268020 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Depressed nasal bridge, Short femur, Micromelia, ... |
OMIM:211350 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Ventricular septal defect, Concave nail... |
ORPHA:33364 |
Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Short nose, Abnormal epiphysis morphology |
ORPHA:90653 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Ureteral duplication, Cerebellar vermis hypoplasia, Ventriculomegaly, Postaxial ... |
OMIM:618460 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Mixed hearing impairment, Optic disc hypoplasia, Optic nerve hy... |
ORPHA:79345 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Sparse eyelashes, Simple ear, Sparse eyebrow, Postaxial hand polydactyly,... |
OMIM:613610 |
Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Anteverted ears, Atrial septal defect, Chronic otitis media, Small... |
OMIM:616268 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ureteral stenosis, Arachnodactyly, Depressed nasal bridge, Anteverted nares, Microcephaly, Abnorm... |
ORPHA:2719 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Pes cavus, Talipes equinovarus, Intrinsic hand muscle atrophy, Knee flexion contracture |
OMIM:615490 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Hydrocephalus, Radial dysplasia, Absent thumb |
OMIM:617244 |
Trichohepatoneurodevelopmental Syndrome |
|
Overlapping toe, Microcephaly, Bulbous nose, Hip dislocation, Brachycephaly, Cerebral atrophy, Ab... |
OMIM:618268 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Long nose, Hydrocephalus, Cerebral atrophy,... |
OMIM:618590 |
Crouzon Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost... |
OMIM:123500 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Post... |
OMIM:619522 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Orthostatic hypotension, Urinary incontinence, Urinary urgency, Ptosis |
OMIM:146500 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Sensorineural hearing impairment, Pulmonary... |
OMIM:615636 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypoplastic toenails, Synophrys, Aspiration pneumonia, Conductive hearing impairment, Abnormal to... |
ORPHA:444077 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased palmar creases, Craniosynostosis, Tapered finger, Redundant skin, Functional abnormalit... |
ORPHA:2953 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Ptosis, Melanocytic nevus, Multiple cafe-... |
ORPHA:1969 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Hip dislocation, Flattened epiphysis, Coxa vara, Cervical myelopathy, Tal... |
OMIM:183900 |
Pettigrew Syndrome |
|
Ventriculomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Prominent nose, Aqueducta... |
OMIM:304340 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Severe sensorineural hearing impairment, Sparse scalp hair, Meningocele, Hip dislocation |
ORPHA:2003 |
Robinow Syndrome |
|
Atrial septal defect, Syndactyly, Mesomelic arm shortening, Radioulnar dislocation, Pulmonic sten... |
ORPHA:97360 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Depressed nasal bridge, Dolichocephaly, Metaphys... |
OMIM:253200 |
Cole-Carpenter Syndrome 2 |
|
Frontal bossing, Turricephaly, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostos... |
OMIM:616294 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Basal Cell Nevus Syndrome 2 |
|
Frontal bossing, Palmar pits, Hydrocephalus, Plantar pits, Calcification of falx cerebri |
OMIM:620343 |
Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis, Holoprosencephaly, Pulmonary hypoplasia, L... |
OMIM:202650 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Telecanthus, Broad hallux, Thick hair, Conductive hearing impairment, Short ti... |
ORPHA:2751 |
Sclerosteosis 1 |
|
Syndactyly, Frontal bossing, Depressed nasal bridge, 2-3 finger syndactyly, Wide nasal bridge, Fa... |
OMIM:269500 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Bruck Syndrome 2 |
|
Elbow flexion contracture, Knee flexion contracture, Femoral bowing, Talipes equinovarus, Hydroxy... |
OMIM:609220 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Short humerus, Pes planus, Hypoplastic scapulae, Ureteral stenosis, Co... |
OMIM:309350 |
Orofaciodigital Syndrome V |
|
Unilateral ptosis, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Horseshoe kidne... |
OMIM:174300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Ventriculomegaly, Depressed nasal bridge, Overlapping toe, Craniosynostosis, Broad nasal tip, Tap... |
OMIM:309590 |
Marshall Syndrome |
|
Frontal bossing, Cerebral calcification, Depressed nasal bridge, Anteverted nares, Wide nasal bri... |
ORPHA:560 |
Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Highly arched eyebrow, Aortic regurgitation |
OMIM:615476 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Ventriculomegaly, Microcephaly, Cerebral atrophy, Secondary microcephaly, Hypoplasia o... |
OMIM:615851 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Lateral ventricular asymmetry, Depressed nasal bridge, Microcephaly, Wide nasal bridge, Plagiocep... |
OMIM:613457 |
Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Atrial septal defect, Conductive hearing impairment, Clin... |
OMIM:136140 |
Galloway-Mowat Syndrome 3 |
|
Epicanthus, Arachnodactyly, Hip dislocation, Low-set ears, Camptodactyly, Microphthalmia, Downsla... |
OMIM:617729 |
Loeys-Dietz Syndrome 5 |
|
Pes planus, Scapular winging, Arachnodactyly, Prominent nasal bridge, Dolichocephaly, Brachycepha... |
OMIM:615582 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Heparan sulfate excretion in urine, Hydrocephalus, Split hand, Scaphoc... |
OMIM:309900 |
Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Low-set ears, Pulmonic stenosis, Atrial septal defect, ... |
OMIM:618205 |
Pituitary Apoplexy |
|
Ptosis, Hypertension, Hypotension, Mydriasis |
ORPHA:95613 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Absent... |
OMIM:208150 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Congestive heart failure, Highly arched eyebrow |
ORPHA:500533 |
Macs Syndrome |
|
Alopecia, Single transverse palmar crease, Sparse eyebrow, Bronchiectasis, Sparse hair, Umbilical... |
OMIM:613075 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly, Low-set ears,... |
OMIM:309520 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Rothmund-Thomson Syndrome Type 1 |
|
Hypopigmentation of the skin, Short metacarpal, Hyperpigmentation of the skin, Alopecia totalis, ... |
ORPHA:221008 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocated radial head, Depres... |
OMIM:180700 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Sparse hair, Clinodactyly o... |
ORPHA:2636 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
1Q44 Microdeletion Syndrome |
|
Frontal bossing, Microcephaly, Hydrocephalus, Horseshoe kidney, Biparietal narrowing, Vesicourete... |
ORPHA:238769 |
Scarf Syndrome |
|
Low-set, posteriorly rotated ears, Low posterior hairline, Short sternum, Hypoplastic nipples, Sp... |
ORPHA:3134 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Cerebellar vermis hypoplasia, Preaxial hand polydactyly, Postaxial hand polydactyly, Brachycephal... |
OMIM:263520 |
Monosomy 22 |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Epicanthus, Single transverse palmar crease... |
ORPHA:96123 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... |
OMIM:300912 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Short fourth metatarsal, Single transverse pa... |
OMIM:619841 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:619967 |
Transaldolase Deficiency |
|
Ventricular septal defect, Synophrys, Telangiectasia, Low-set ears, Atrial septal defect, Patent ... |
OMIM:606003 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Inguinal hernia, Morga... |
OMIM:613177 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypertrophic cardiomyopathy, Single transverse palmar crease |
OMIM:619053 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Absent thumb, Hydrocephalus, Bilateral radial aplasia, Cerebellar hypoplasia, H... |
OMIM:300514 |
Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Meningocele, Low posterior hairline |
ORPHA:3456 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia |
OMIM:614080 |
Coffin-Siris Syndrome 12 |
|
Synophrys, Low anterior hairline, Protruding ear, Simple ear, Highly arched eyebrow, Short thumb,... |
OMIM:619325 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Rhizomelia, Coxa valga, Flat acetabular roof, Short long bone,... |
ORPHA:263508 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Postaxial... |
ORPHA:2473 |
Scarf Syndrome |
|
Posteriorly rotated ears, Low anterior hairline, Low posterior hairline, Short sternum, Hypoplast... |
OMIM:312830 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Epicanthus, Arachnodactyly, Optic nerve hypoplasia, Bilateral renal dysplasia, Absent thumb, Unil... |
ORPHA:500150 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigm... |
ORPHA:79431 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Abnormal toe morphology, Cranial asymmetry, Abnormal finger morphology, Horses... |
OMIM:163200 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus, Transpositi... |
ORPHA:2255 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Anteverted nares, Single tr... |
OMIM:303600 |
Mast Cell Sarcoma |
|
Hypoplasia of the ear cartilage |
ORPHA:66661 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sens... |
ORPHA:2789 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Hypoplastic aortic arch |
ORPHA:2248 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Ectropion, Telangiectasia of the skin, Camptodactyly of finger, Abnormal prepu... |
ORPHA:2907 |
Rothmund-Thomson Syndrome |
|
Hypoplasia of the ulna, Sparse eyelashes, Alopecia totalis, Telangiectasia of the skin, Aplasia/H... |
ORPHA:2909 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Redun... |
OMIM:617157 |
Split Cord Malformation |
|
Pes planus, Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia... |
ORPHA:573278 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Mitral valve calcification, Tricuspid regurgitation, Sandal gap, Decreased fibular diameter, Spar... |
OMIM:619127 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Increased variability in muscle fiber diameter, Microphthalmia, Muscular dystrophy |
OMIM:616538 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pu... |
OMIM:610921 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Recurrent respiratory infections, Absent eyebrow, Absent nipple, Sparse eyelashes, Sparse scalp h... |
OMIM:614941 |
Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Broad hallux phalanx, Atrial septal defect, Sandal gap, Single... |
ORPHA:363611 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hip dislocation, Bladder dive... |
OMIM:617821 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Ulnar deviation of the 3rd finger, Proximal placement of thumb, Long fingers, Achilles tendon con... |
OMIM:616263 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Bicuspid aortic valve, Single transverse palmar crease, Myocardial infarction, Protruding ear, Fr... |
OMIM:150230 |
Arachnoid Cyst |
|
Urinary incontinence, Subarachnoid hemorrhage, Mydriasis, Urinary bladder sphincter dysfunction, ... |
ORPHA:2356 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holoprosencephaly, Tra... |
OMIM:253800 |
Dyskeratosis Congenita |
|
Recurrent respiratory infections, Coarse metaphyseal trabecularization, Alopecia, Abnormal finger... |
ORPHA:1775 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Posteriorly rotated ears, Prominent ear helix, Elbow flexion contracture, Hip dislocation, Fine h... |
OMIM:614438 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Frontal bossing, Short nose, Anteverted nares |
ORPHA:884 |
Olmsted Syndrome 2 |
|
Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Sparse hair, Woolly hair, Alopecia univers... |
OMIM:619208 |
Kinsship Syndrome |
|
Death in infancy, Pes planus, Ventriculomegaly, Single transverse palmar crease, Coxa valga, Micr... |
OMIM:619297 |
Mucopolysaccharidosis Type 1 |
|
Depressed nasal bridge, Abnormal nasal morphology, Hydrocephalus, Split hand, Mucopolysaccharidur... |
ORPHA:579 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Optic atrophy, Flared metaphysis, Hip subluxation, Mydriasis |
OMIM:259720 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:614432 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Rhizomelia, Micromelia, Conductive hearing imp... |
ORPHA:709 |
Osteopetrosis, Autosomal Recessive 1 |
|
Frontal bossing, Femur fracture, Craniosynostosis, Hydrocephalus, Flared metaphysis, Coxa vara |
OMIM:259700 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Right aortic arch, Lower-limb joint contracture, Increased axial length of the globe |
ORPHA:513456 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Postaxial hand polydactyly, Atrial septal defect... |
ORPHA:2519 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal pinna morphology, Abnormal heart morphology, Total anomalous ... |
ORPHA:261183 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... |
OMIM:610198 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Protruding ear, Atrial sept... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Protruding ear, Atrial sept... |
ORPHA:363958 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Urinary incontinence, Achilles tendon contracture, Elbow flexion co... |
OMIM:617114 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Atelectasis, E... |
OMIM:610978 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Rothmund-Thomson Syndrome Type 2 |
|
Hypopigmentation of the skin, Short metacarpal, Hyperpigmentation of the skin, Aplasia/hypoplasia... |
ORPHA:221016 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Sensorineural hearing impairment, Palmoplantar keratoderma, Sparse hair, Fragile nails |
OMIM:242150 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Abnormality of retinal pigmentation, Tricuspid regurgitation, T... |
ORPHA:505248 |
Tetraamelia Syndrome 1 |
|
Microphthalmia, Congenital diaphragmatic hernia |
OMIM:273395 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosi... |
OMIM:617660 |
Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Albinism, Recurrent upper respiratory tract infections, Ocular albinism, Macular hypop... |
OMIM:614075 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Femoral bowing, Stillbirth, Talipes equinovarus, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Frontal bossing, Tapered toe, Shoulder flexion contracture, Ta... |
OMIM:620369 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly |
ORPHA:1338 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,... |
OMIM:612562 |
Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Desquamative interstitial pneumonitis, Clubbing, Intraalveolar phospholipid acc... |
OMIM:265120 |
Loeys-Dietz Syndrome 4 |
|
Pes planus, Arachnodactyly, Protrusio acetabuli, Talipes equinovarus, Dolichocephaly, Striae dist... |
OMIM:614816 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ears, Abnormality of the mi... |
OMIM:130720 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Urinary incontinence, Talipes equinovarus |
OMIM:604320 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Geleophysic Dysplasia 1 |
|
Anteverted nares, Camptodactyly of finger, Coxa valga, Lack of skin elasticity, Hypoplasia of the... |
OMIM:231050 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, V... |
OMIM:300855 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Interst... |
OMIM:127550 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Prominent nose, Knee flexion contracture, Micropenis, Pachygyria, Age... |
OMIM:606170 |
Vici Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Albinism, Congestive heart failure, S... |
OMIM:242840 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Developmental And Epileptic Encephalopathy 49 |
|
Frontal bossing, Ventriculomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Prominen... |
OMIM:617281 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Microcephaly, Anosmia, Talipes equinovarus, Iris col... |
ORPHA:251066 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Bowing of the long bones, Pes planus, Arachnodactyl... |
ORPHA:2462 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Broad hallux, Posteriorly rotated ears, Narrow palm, 2-3 toe syndactyly, Joint contracture of the... |
OMIM:619934 |
Muscle-Eye-Brain Disease |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Pes cavus, Talipes cavus equinovarus, Claw hand deformity, Hammertoe |
OMIM:601455 |
Hartsfield Syndrome |
|
Syndactyly, Wide nose, Hypospadias, Craniosynostosis, Alobar holoprosencephaly, Microcephaly, Lob... |
OMIM:615465 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Atrial septal defect, Toe syndactyly, Ventricular septal defect, Single transverse palmar crease,... |
ORPHA:459070 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Single transverse palmar crease, Prominent interphalangeal joints, Atrial septal defect... |
OMIM:135900 |
Distal Deletion 15Q |
|
Congenital diaphragmatic hernia, Double outlet right ventricle with doubly committed ventricular ... |
ORPHA:1596 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Frontal bossing, Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothi... |
OMIM:252150 |
Diets-Jongmans Syndrome |
|
Umbilical hernia, Inguinal hernia, Interrupted inferior vena cava with azygous continuation, Cong... |
OMIM:618846 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Broad nasal tip, Microcephaly, Wide nasal bridge, Shortening of all distal phalanges of the finge... |
OMIM:614207 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Hip dislocation, Protruding ear,... |
OMIM:617403 |
Familial Multiple Lipomatosis |
|
Bowing of the long bones, Cerebral calcification, Coloboma, Hypoplasia of the corpus callosum, Pr... |
ORPHA:199276 |
Wiedemann-Steiner Syndrome |
|
Rhizomelia, Abnormality of the hand, Tapered finger, Microcephaly, Abnormality of the elbow, Wide... |
ORPHA:319182 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Ventricular septal defect, Low-set, posteriorly rotated ears, Brachydactyly |
ORPHA:457193 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal heart morphology, Hematochezia, Melena, Clubbing of fingers... |
ORPHA:79076 |
Wiedemann-Rautenstrauch Syndrome |
|
Brachycephaly, Parietal bossing, Agenesis of corpus callosum, Dandy-Walker malformation, Genu var... |
OMIM:264090 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair, Bronchiectasis, Aspiration pneumonia |
OMIM:618253 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum |
OMIM:207950 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Short toe, Genu va... |
OMIM:616145 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent upper respiratory tract infections, Talipes equinovarus, Persistence of primary teeth |
OMIM:619752 |
Townes-Brocks Syndrome 2 |
|
Overfolded helix, Spina bifida occulta, Microtia, Cupped ear |
OMIM:617466 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Increased CSF protein concentration, Hydrocephalus |
OMIM:245200 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose |
OMIM:614069 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Recurrent respiratory infections, Raynaud phenomenon, Telangiectas... |
OMIM:615934 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Ketonuria, Depressed nasal bridge, Aminoaciduria, Umbilical hernia, Polymicrogyria |
OMIM:614520 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Ectopic kidney, Abnormal iliac wing morphology, Abnorm... |
ORPHA:3027 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis |
OMIM:620024 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Posteriorly rotated ears, Albinism, Recurrent pneumonia, Ocular a... |
OMIM:608233 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Cerebellar vermis hypoplasia, Brachycephaly, Cerebral cortical atrophy, Hypoplasia of ... |
ORPHA:1394 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Hypospadias, Underdeveloped nas... |
ORPHA:2315 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Sparse body hair |
ORPHA:2234 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Paresis of extensor muscles of the big toe, Abnormal substantia nigra morphology, Decreased CSF h... |
ORPHA:98808 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Multiple muscular ventricular septal defects, Palmoplantar kera... |
OMIM:615508 |
Agel Amyloidosis |
|
Respiratory tract infection, Cardiomyopathy, Nail dystrophy, Sparse hair, Arrhythmia, Orthostatic... |
ORPHA:85448 |
Omodysplasia 1 |
|
Short humerus, Frontal bossing, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, L... |
OMIM:258315 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Cupped ear, Hypomelanotic macule, Nail dystrop... |
OMIM:617052 |
Schwartz-Jampel Syndrome |
|
Micromelia, Coxa vara, Wrist flexion contracture, Death in infancy, Umbilical hernia, Abnormal me... |
ORPHA:800 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... |
OMIM:619167 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Epiphyseal stippling, Ecchymosis, Short nose, Short distal phalanx of finger |
OMIM:277450 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Pes planus, Short femur, Depressed nasal bridge, Talipes, Hypercalciur... |
OMIM:300990 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Highly arched eyebrow, Microtia, Pulmonary arterial hypertensio... |
ORPHA:2282 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Postaxial hand p... |
OMIM:236700 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Increased laxity of ankles, Hip dislocation, Talipes equinovarus, Increased laxity of fingers |
OMIM:254090 |
Lethal Congenital Contracture Syndrome 10 |
|
Femoral bowing, Short long bone, Talipes equinovarus, Overlapping fingers, Convex nasal ridge, Ad... |
OMIM:617022 |
Potocki-Lupski Syndrome |
|
Atrial septal defect, Patent foramen ovale, Hearing impairment |
OMIM:610883 |
Osteogenesis Imperfecta, Type Xx |
|
Posteriorly rotated ears, Highly arched eyebrow, Low-set ears, Sparse hair, Crumpled ear, Sparse ... |
OMIM:618644 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot... |
OMIM:619471 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Hyperpigmented streaks, Ventricular tachycardia, Histiocy... |
OMIM:300952 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallo... |
OMIM:108900 |
Infantile Liver Failure Syndrome 3 |
|
Talipes equinovarus, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral ... |
OMIM:618641 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Recurrent otitis media, Nail dystrophy, Sparse hair, Recurrent sinusitis |
ORPHA:98813 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect |
OMIM:620094 |
Congenital Sialidosis Type 2 |
|
Umbilical hernia, Hydrocephalus, Polydactyly, Petechiae |
ORPHA:93400 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Metaphyseal widening, Tibial bowing, Retinal calcification, Exudative ret... |
OMIM:259770 |
Bruck Syndrome |
|
Bowing of the long bones, Talipes equinovarus |
ORPHA:2771 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Renal cyst, Narrow greater sciatic notch, Short palm, Agenesis of c... |
OMIM:312870 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Frontal bossing, Short nose, Cerebral atrophy |
OMIM:256600 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Bicuspid aortic valve, Ventricular ... |
ORPHA:84064 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Congenital hip dislocation, Ventriculomegaly |
OMIM:616355 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia |
OMIM:194080 |
Schinzel-Giedion Syndrome |
|
Renal cyst, Tibial bowing, Choanal stenosis, Micropenis, Hypospadias, Overlapping fingers, Umbili... |
ORPHA:798 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai... |
ORPHA:466677 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Depressed nasal bridge, Craniosynostosis, Cranial hyperostosis, Brac... |
ORPHA:309282 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement... |
OMIM:212093 |
Hajdu-Cheney Syndrome |
|
Wide nose, Anteverted nares, Hypospadias, Hydrocephalus, Foot acroosteolysis, Osteolytic defects ... |
OMIM:102500 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Neonatal death, Atrial sep... |
OMIM:265380 |
Prolidase Deficiency |
|
Depressed nasal bridge, Hyperimidodipeptiduria, Skin ulcer, Concave nasal ridge, Short nose, Pete... |
OMIM:170100 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Frontal bossing, Hydrocephalus, Coronal craniosynostosis, Midface re... |
OMIM:112240 |
Central Neurocytoma |
|
Hydrocephalus, Cerebral calcification, Abnormal lateral ventricle morphology |
ORPHA:73256 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Prominent nose, Brachycephaly, Hypoplas... |
ORPHA:480880 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Talipes cavus equinovarus |
ORPHA:59135 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Small hypothenar eminence, Alopecia, Sparse facial hair, Decreased p... |
ORPHA:2232 |
Kabuki Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Microcephaly, Hydrocephalus, Small... |
ORPHA:2322 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect, Macrotia, Posteriorly rotated ears, Low-set ears |
OMIM:618665 |
Acrocephalopolydactylous Dysplasia |
|
Craniosynostosis, Micromelia, Postaxial hand polydactyly, Oxycephaly, Short nose, Cystic renal dy... |
OMIM:200995 |
Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Hydrocephalus, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:615862 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Depressed nasal bridge, Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, ... |
OMIM:301066 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Cerebral white matter atrophy, Cerebellar hypoplasia, Abnormal periventricular white matter morph... |
ORPHA:329178 |
Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Telangiectasia |
ORPHA:101028 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Hydrocephalus, Clubbing, Nasal congestion, Chronic rhinitis, Ventriculomegaly |
ORPHA:244 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Yellow nails, Conjunctivitis, Microphthalmia, Distichiasis, Ptosis |
OMIM:153400 |
Poikiloderma With Neutropenia |
|
Frontal bossing, Plantar hyperkeratosis, Depressed nasal bridge, Underdeveloped nasal alae, Palmo... |
OMIM:604173 |
Gapo Syndrome |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Redundant skin, Plagiocephaly, Eruptio... |
OMIM:230740 |
Faciocardiomelic Syndrome |
|
Telecanthus, Slender long bone, Polydactyly, Hypoplastic pelvis, Short eyelashes, Ptosis |
OMIM:612731 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac... |
OMIM:600145 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Secundum atrial septal defect, Low anterior hairline, Low posterior hairli... |
OMIM:615802 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Abnormal pinna morphology, Optic nerve hypoplasia, Secundum atrial septal defec... |
OMIM:609069 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,... |
ORPHA:42775 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Frontal bossing, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphys... |
OMIM:118650 |
Rabin-Pappas Syndrome |
|
Optic nerve hypoplasia, Broad nasal tip, Hypoplasia of the pons, Microcephaly, Hydrocephalus, Wid... |
OMIM:620155 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Almond-shaped palpebral fissure, Cryptor... |
ORPHA:398079 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Telecanthus, Melanocytic nevus, Microphthalmia, Irregular hyperpigmentation |
ORPHA:2612 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Hemiballismus, Pes valgus, ... |
ORPHA:522077 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Corneal opacity, Camptodactyly of finger, Phimosis, Neopla... |
ORPHA:2908 |
Adenylosuccinase Deficiency |
|
Anteverted nares, Microcephaly, Brachycephaly, Cerebral atrophy, Short nose |
OMIM:103050 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Thin eyebrow, Abnormal T-wave, Arrhythmia, Mydriasis |
ORPHA:2131 |
Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Albinism, Ocular albinism, Abnormal pulmonary interstitial morp... |
OMIM:617050 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Supernumerary nipple, Tapered finger, Hypoplastic toenails, Short thumb, Synop... |
ORPHA:477993 |
Renal And Mullerian Duct Hypoplasia |
|
Frontal bossing, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Short ... |
OMIM:266810 |
Restrictive Dermopathy 1 |
|
Atrial septal defect, Sparse eyelashes, Rocker bottom foot, Short nail, Absent eyelashes, Sparse ... |
OMIM:275210 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Pes planus, Frontal bossing, Arachnodactyly, Prominent nasal bridge,... |
OMIM:617011 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pneumonia, Pericardial effusion, D... |
ORPHA:26793 |
Japanese Encephalitis |
|
Increased CSF protein concentration, Abnormal substantia nigra morphology, Genu recurvatum, CSF p... |
ORPHA:79139 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Shoulder girdle muscle weakness, Patent foramen ovale |
OMIM:615156 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma, Abnormal dental enamel morphology |
ORPHA:2791 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Bicuspid aortic valve, Posteriorly rotated ears, Hearing impairment, Secundum atrial se... |
OMIM:613355 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Wide nose, Craniosynostosis, Broad nasal tip, Asymmetry of the nares, Unilateral brac... |
ORPHA:1521 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus |
OMIM:300886 |
Tenorio Syndrome |
|
Wide nose, Anteverted nares, Hydrocephalus, Enuresis, Cavum septum pellucidum, Cerebral cortical ... |
OMIM:616260 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy |
OMIM:616353 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Raynaud phenomenon, Melanocytic nevus, Patchy alopecia, Hemiatrophy, Arrhythmia |
ORPHA:2874 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Posteriorly rotated ears, 2-3 toe cutaneous syndactyly, Protruding ear, Frontal upswee... |
OMIM:614756 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Pes planus, Renal insufficiency, Miscarriage, Hypospadias, Preaxial hand polydactyly, Chordee, Ab... |
ORPHA:96179 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares... |
ORPHA:50945 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Epistaxis, Ocular albini... |
ORPHA:79430 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Palmoplantar hyp... |
OMIM:257980 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Short nose, Midfa... |
OMIM:613038 |
Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Posteriorly rotated ears, Con... |
OMIM:157800 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Hearing impairment, Woolly hair, Sensorineural hearing impairment, Low... |
OMIM:163950 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Calf muscle hypertrophy, Agenesis of corpus callosum, Multiple renal cy... |
OMIM:618733 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Arterial Tortuosity Syndrome |
|
Long palm, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital femo... |
ORPHA:3342 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Pes planus, Anteverted nares, Overlapping toe, Broad nasal tip, Knee flexion contracture, Nephroc... |
OMIM:617402 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardi... |
OMIM:618280 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect, Single transverse pal... |
OMIM:618354 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Pes planus, Scapular winging, Congenital hip dislocation, Redundant sk... |
OMIM:278250 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Telecanthus, Congenital hip dislocation, Hypospadias, Telangiectasia of the skin, Tr... |
ORPHA:286 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Finger clinodactyly, Premature graying of hair, Short palm, Abnormality of t... |
ORPHA:79474 |
Kabuki Syndrome 1 |
|
Atrial septal defect, Congenital hip dislocation, Ventricular septal defect, Posteriorly rotated ... |
OMIM:147920 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Pes planus, Dermal translucency, Arachnodactyly, Protrusio acetabuli, Postaxial polyd... |
OMIM:610168 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Hypoplasia of the pons, Knee flexion contracture, Bilateral talipes equinovarus, Cerebellar hypop... |
OMIM:619708 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Microcephaly, Bulbous nose, Short nose, Agenesis of corpus callosum |
ORPHA:261144 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus... |
OMIM:617542 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Sensorineural hearing impairment, Synophrys, Aplasia of the inner ear, Microtia, Hearing impairment |
ORPHA:90024 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Pallor |
ORPHA:163596 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Inguinal freckling, Ventricular septal defect, Hydrocephalus, Abnormal tibia morphology, Axillary... |
ORPHA:363700 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent foramen ovale, Pulmonary hypoplasia |
OMIM:616867 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Single transverse palmar crease, Coloboma, Chorioretinal coloboma, Micropenis, Iris coloboma, Ant... |
OMIM:619475 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Pes planus, Depressed nasal bridge, Anteverted nares, Hypospadias, Tapered finger, Dolichocephaly... |
OMIM:309580 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, Dermatoglyphic ridges abnorma... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, Dermatoglyphic ridges abnorma... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, Dermatoglyphic ridges abnorma... |
ORPHA:881 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Arachnodactyly, Transient ischemic attack, Subarachnoid hemorrhage, Hypovol... |
ORPHA:91387 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Hypoplastic toenails, Dermatoglyphic ridges abnorma... |
ORPHA:99413 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
46,Xy Sex Reversal 4 |
|
Recurrent otitis media, Sensorineural hearing impairment, Microtia |
OMIM:154230 |
Doors Syndrome |
|
Abnormal finger morphology, Brachycephaly, Nephrocalcinosis, Triphalangeal thumb, Clinodactyly of... |
ORPHA:79500 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Frontal bossing, Cerebellar vermis hypoplasia, Sandal gap, Optic nerve hypoplasia, Broad nasal ti... |
OMIM:620330 |
Bilateral Polymicrogyria |
|
4-layered lissencephaly, Aplasia/Hypoplasia of the cerebral white matter, Perisylvian polymicrogy... |
ORPHA:268940 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
47,Xyy Syndrome |
|
Finger clinodactyly, Micropenis, Hypospadias, Hydrocephalus |
ORPHA:8 |
Chondrodysplasia, Blomstrand Type |
|
Preductal coarctation of the aorta |
OMIM:215045 |
Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Abnormal lung lobation, Abnormal finger morphology, Ab... |
ORPHA:744 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Iris transillumination defect |
OMIM:614074 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
Neurofibromatosis-Noonan Syndrome |
|
Inguinal freckling, Posteriorly rotated ears, Secundum atrial septal defect, Axillary freckling, ... |
OMIM:601321 |
Bohring-Opitz Syndrome |
|
Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Ulnar deviation of the wrist, Trigono... |
ORPHA:97297 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Scarring alopecia of scalp, Microtia, Nail dystrophy |
ORPHA:158684 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Pes planus, Hip dislocation, Elbow flexion contracture, Congenital bilateral hip dislocation, Tal... |
ORPHA:1900 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, High iliac wing, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperp... |
ORPHA:50814 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Low-set ears |
ORPHA:261190 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Redundant neck skin, Depressed nasal bridge, Anteverted nares... |
ORPHA:2729 |
Cockayne Syndrome A |
|
Hip contracture, Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Retina... |
OMIM:216400 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Arachnodactyly, Brachycephaly, Nephrotic syndrome, Ecchymosis, Short columella, Talipes equinovar... |
OMIM:601776 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Talipes, Craniosynostosis, Underdeveloped nasal alae, Microcephaly, Wide nasal bridge, Plagioceph... |
ORPHA:453499 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Epistaxis, Albinism, Silver-gray hair, Blue irides, Ocular albinism, Iri... |
OMIM:614077 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Small hand, Short foot, Hip dysplasia... |
ORPHA:398069 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Periorbital hyperpigmentation, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Osteolytic defects of t... |
ORPHA:90154 |
Optic Pathway Glioma |
|
Hydrocephalus |
ORPHA:2086 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Gi... |
OMIM:214500 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Cerebellar vermis hypoplasia, Cerebral calcification,... |
ORPHA:228308 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
Viss Syndrome |
|
Tortuous cerebral arteries, Inguinal hernia, Epidural hemorrhage, Abnormal branching pattern of t... |
OMIM:619472 |
Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Sensorineural hearing impairment, Pigmentary retinopathy, Hypogonadism, Microphthalmia |
OMIM:610651 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Arachnodactyly, Talipes, Ca... |
ORPHA:2461 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Sparse hair |
OMIM:607626 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal defect, Protruding ear, ... |
OMIM:619534 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Pes planus, Congenital hip dislocation, Arachnodactyly, Depressed nasal bridge, Protrusio acetabu... |
OMIM:225400 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Epicanthus, Toe syndactyly, Renal agenesis, Hypoplastic scapulae, Split h... |
OMIM:200980 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Bowing of the long bones, Hypopigmentation of hair, Tarsal synostosi... |
ORPHA:565 |
Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... |
OMIM:614868 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Cerebral calcification, Polymicrogyria, Hydrocephalus, Red-brown ur... |
ORPHA:157 |
Neu-Laxova Syndrome |
|
Spina bifida, Micromelia, Abnormal eyelash morphology, Abnormal hair morphology, Large hands, Pul... |
ORPHA:2671 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Situs inversus totalis |
OMIM:619881 |
Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Short nasal bridge, Ventriculomegaly, Microcephaly, Polymicrogyria, Hydrocephalus, Aplasia/Hypopl... |
OMIM:253280 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Thickened helices, Posteriorly rotated ears, Mitral valve prolapse, Pu... |
OMIM:609942 |
22Q11.2 Duplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Interrupted aortic arch |
ORPHA:1727 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Talipes equinovarus |
OMIM:191830 |
Choanal Atresia |
|
Nasal congestion, Polydactyly, Craniosynostosis |
ORPHA:137914 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Aicardi Syndrome |
|
Abnormality of retinal pigmentation, Small hand, Protruding ear, Abnormality of skin pigmentation... |
ORPHA:50 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Long nose, Wide nose, Communicating hydrocephalus |
ORPHA:2184 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Arachnodactyly, Abnormal hip bone morphology |
ORPHA:2720 |
Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Recurrent upper respiratory tract infections, Nephrolithiasis, C... |
OMIM:217090 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Short nose |
OMIM:300143 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Otitis media, Atrial septal defect, Conductive hearing impairment, Patent ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Otitis media, Atrial septal defect, Conductive hearing impairment, Patent ... |
ORPHA:353277 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Postaxial polydactyly, Postaxial hand polydactyly, Horseshoe kidney, Cone-shaped epip... |
OMIM:617088 |
Osteogenesis Imperfecta |
|
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Brachycephaly, Femoral bowing, ... |
ORPHA:666 |
Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Microcephaly |
ORPHA:398189 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Sensorineural hearing impairment, Re... |
ORPHA:209905 |
Lethal Congenital Contracture Syndrome 9 |
|
Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Short umbilical cord, Tali... |
OMIM:616503 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Umbilical hernia, Hydrocephalus, Hypospadias, Wide nasal bridge |
OMIM:601499 |
Loeys-Dietz Syndrome 1 |
|
Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Hydrocephalus, Talipes equinovarus,... |
OMIM:609192 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent respiratory infections, Cor triatriatum, Single transverse palmar crease, Secundum atri... |
OMIM:612541 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Finger syndactyly, Camptodactyly of finger, Sparse axillary hai... |
ORPHA:2136 |
Griscelli Syndrome |
|
Encephalocele, Hydrocephalus, Pedal edema |
ORPHA:381 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect |
OMIM:620211 |
Cadds |
|
Abnormal cerebral white matter morphology, Short nose, Ventriculomegaly |
ORPHA:369942 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Death in infancy |
OMIM:600559 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Frontal bossing, Wide nose, Hypoplasia of penis, Depressed nasal bridge, Ventriculomegaly, Microm... |
ORPHA:93271 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Sensorineural hearing impairment, Sacral hypertrichosis, Atrial septal def... |
ORPHA:457351 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Focal white matter lesions, Talipes equinovarus, Hypoplasia of the corpus callosum, Tibialis musc... |
ORPHA:320375 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Dextrocardia, Short nail, Sparse eyebrow, Large placenta, Aplasia/Hypopl... |
ORPHA:1662 |
Popliteal Pterygium Syndrome |
|
Cryptorchidism, Ankyloblepharon, Popliteal pterygium, Cutaneous finger syndactyly, Talipes equino... |
OMIM:119500 |
Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Hip dislocation, Elbow flexion contracture, Distal upper ... |
ORPHA:70 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Postaxial foot polydactyly, Atrial septal defect, Ao... |
OMIM:267010 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
H Syndrome |
|
Hallux valgus, Pes planus, Recurrent pharyngitis, Hydrocephalus, Chronic rhinitis, Camptodactyly,... |
ORPHA:168569 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame... |
ORPHA:25 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Pes planus, Congenital hip dislocation, Arachnodactyly, Abnormality of the hand, Abnormal foot mo... |
ORPHA:536545 |
Lhermitte-Duclos Disease |
|
Hydrocephalus, Hand polydactyly, Polymicrogyria |
ORPHA:65285 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Almond-shaped palpebral fissure, Cryptor... |
ORPHA:98754 |
Culler-Jones Syndrome |
|
Micropenis, Postaxial polydactyly |
OMIM:615849 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Sensorineural hearing impairm... |
ORPHA:163746 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect, 2-3 toe cutaneous syndactyly |
OMIM:620242 |
Hemangioblastoma |
|
Neurogenic bladder, Hydrocephalus |
ORPHA:252054 |
Parkinsonian-Pyramidal Syndrome |
|
Lewy bodies, Neurogenic bladder, Substantia nigra gliosis, Talipes equinovarus |
ORPHA:171695 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Hyperpigmented streaks, Camptodactyl... |
OMIM:601803 |
Dend Syndrome |
|
Clinodactyly of the 4th finger, Short nose, Anteverted nares |
ORPHA:79134 |
Knobloch Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Midface retrusion, Vesicoureteral... |
ORPHA:1571 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Abnormal lung lobation, Upper limb undergrowth, Abnormal heart morphology, Slender long bone, Low... |
ORPHA:369837 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atr... |
OMIM:619769 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Camptodactyly ... |
ORPHA:3047 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Congenital hip dislocation, Coxa vara, Slender long bones wit... |
ORPHA:2834 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Congenital malformation of the left heart, Synophrys, Abnormality of the e... |
ORPHA:3455 |
White-Kernohan Syndrome |
|
Hydroureter, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Dysplastic corp... |
OMIM:619426 |
Cerebral Visual Impairment |
|
Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, I... |
ORPHA:447788 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Almond-shaped palpebral fissure, Cryptor... |
ORPHA:98793 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Depressed nasal bridge, Humeroradial ... |
ORPHA:3404 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Urinary incontinence |
OMIM:236690 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Almond-shaped palpebral fissure, Cryptor... |
ORPHA:177904 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Bulbous nose, Wide nasal bridge |
ORPHA:1237 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,... |
ORPHA:210122 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Congestive heart failure, Cardiomyopathy, Pulmonary hypoplasia, Pa... |
OMIM:616866 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Tetrasomy 9P |
|
Hypoplastic scapulae, Bulbous nose, Polymicrogyria, Small hand, Hydrocephalus, Horseshoe kidney, ... |
ORPHA:3310 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
Oeis Complex |
|
Congenital hip dislocation, Hydroureter, Epispadias, Myelomeningocele, Vesicovaginal fistula, Hyd... |
OMIM:258040 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Almond-shaped palpebral fissure, Cryptor... |
ORPHA:177901 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Patent foramen ovale, Death in childhood |
OMIM:614582 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Overlapping toe, Cerebral hemorrhage, Sparse hair, Nail dysplasia, Cli... |
OMIM:616682 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Pulmonary arterial hypertension |
OMIM:614857 |
Bdv Syndrome |
|
Atrial septal defect, Macrotia |
OMIM:619326 |
Thauvin-Robinet-Faivre Syndrome |
|
Pes planus, Bowing of the legs, Pedal edema, Renal cyst, Bifid ureter, Coloboma, Large hands, Ret... |
OMIM:617107 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Frontal bossing, Wide nose, Anteverted nares, Dolichocephaly, Short nose, Broad thumb |
ORPHA:109 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Ventricular septal defect, Low anterior hairline |
OMIM:619909 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Broad hallux, Pneumonia, Bicuspid aortic valve, Ventricular sep... |
ORPHA:353281 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Posteriorly rotated ears, Spina bifida, Tapered finger, Cupped ear, Low-set ears, Thickened helic... |
OMIM:619480 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Posteriorly rotate... |
OMIM:619268 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect |
OMIM:611087 |
Synaptic Congenital Myasthenic Syndromes |
|
Abnormality of the knee, Scapular winging, Limited wrist extension, Hand muscle weakness, Talipes... |
ORPHA:98915 |
Deeah Syndrome |
|
Death in infancy, Overlapping fingers, Death in adolescence, Micropenis, Extra-axial cerebrospina... |
OMIM:619004 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia,... |
ORPHA:116 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Brittle hair, Sparse hair, Fine hair |
OMIM:618891 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Craniosynostosis, Hydrocephalus, Abnormal ep... |
ORPHA:667 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Absent thumb, Hypoplastic ilia, Short thumb, Parti... |
OMIM:105650 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Almond-shaped palpebral fissure, Cryptorchidism, Small hand, Primary am... |
ORPHA:739 |
Legius Syndrome |
|
Nephrolithiasis, Diaphyseal dysplasia, Xanthelasma, Polydactyly, Male urethral meatus stenosis, L... |
ORPHA:137605 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sensorineural hearing impairment, Low-set ears, Death in childhood, Sparse hair, Hearing impairment |
OMIM:300661 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Patent foramen ovale,... |
ORPHA:488618 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Abnormal heart morphology, Clinodactyly of the 5th ... |
ORPHA:96182 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Adenoiditis, Avascular necrosis of the capital femoral epiphysis, Hepa... |
ORPHA:581 |
Arachnoiditis |
|
Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:242860 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Depressed nasal bridge, Talipes equinovarus, Cerebral atrophy, Microcephaly |
OMIM:616393 |
Hermansky-Pudlak Syndrome 7 |
|
Ocular albinism, Epistaxis, Albinism |
OMIM:614076 |
Osteopetrosis, Autosomal Recessive 7 |
|
Death in infancy, Femur fracture, Hydrocephalus, Lateral ventricle dilatation, Death in childhood |
OMIM:612301 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Congenital sensorineural hearing impairment, Sparse body hair, Breast hypoplasia, Camptodactyly |
ORPHA:432 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, High iliac wing, Coarse hair, Forehead hyperpigmentation, Sparse hair, Narrow iliac... |
OMIM:607812 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Absent Achilles reflex, Neural tube defect, Enu... |
ORPHA:268810 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Micropenis, ... |
ORPHA:261537 |
Aicardi Syndrome |
|
Spina bifida, Proximal placement of thumb, Recurrent pneumonia, Microphthalmia, Sparse lateral ey... |
OMIM:304050 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Pes planus, Arachnodactyly, Prominent nasal bridge, Megalencephaly, ... |
ORPHA:457359 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Talipes equinovarus, Craniosynostosis |
OMIM:601374 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Pes planus, Cutis laxa, Bladder diverticulum, Talipes equinovarus, Umbilical hernia |
OMIM:614557 |
Congenital Myopathy 13 |
|
Microcephaly, Brachycephaly, Bilateral talipes equinovarus, Midface retrusion, Ventriculomegaly |
OMIM:255995 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Low-set ears |
OMIM:608688 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Premature graying of hair, Atrial septal defect, Clinodactyly of the 5th f... |
OMIM:194050 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Hypospadias, Microcephal... |
ORPHA:17 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Grade II vesicou... |
OMIM:619377 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Hydrocephalus, Myelomeningocele, Spina bifida occulta, Neurogenic bladder |
OMIM:613686 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Sensorineural hearing impairment, Protruding ear, Fine hair, Sparse hair, Abnormal T-wa... |
OMIM:241080 |
Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
Semilobar Holoprosencephaly |
|
Proboscis, Microcephaly, Hydrocephalus, Depressed nasal ridge, Single naris, Hip dislocation, Neu... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Proboscis, Microcephaly, Hydrocephalus, Depressed nasal ridge, Single naris, Hip dislocation, Neu... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Proboscis, Microcephaly, Hydrocephalus, Depressed nasal ridge, Single naris, Hip dislocation, Neu... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Proboscis, Microcephaly, Hydrocephalus, Depressed nasal ridge, Single naris, Hip dislocation, Neu... |
ORPHA:93924 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Neurofibromatosis, Type I |
|
Inguinal freckling, Spina bifida, Aqueductal stenosis, Hydrocephalus, Axillary freckling, Tibial ... |
OMIM:162200 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hand clenching, Erythema, Talipes equinovarus |
OMIM:614653 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus |
ORPHA:1946 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Pleural effusion, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Gaucher Disease, Type Ii |
|
Double aortic arch |
OMIM:230900 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Hyperglycorrhachia, Ischemic stroke, Increased CSF lactate |
ORPHA:90065 |
Dextrocardia |
|
Abnormal foot morphology, Hydrocephalus, Congenital hip dislocation, Abnormality of the ureter |
ORPHA:1666 |
Wolcott-Rallison Syndrome |
|
Atrial septal defect, Metaphyseal dysplasia, Double outlet right ventricle |
ORPHA:1667 |
Coccidioidomycosis |
|
Renal insufficiency, Broad skull, Hydrocephalus, CSF pleocytosis, CSF lymphocytic pleiocytosis, A... |
ORPHA:228123 |
Plague |
|
Tachycardia, Hematemesis, Abnormality of the elbow, Hypotension, Arrhythmia, Conjunctival hyperem... |
ORPHA:707 |
Lymphatic Malformation 13 |
|
Unilateral deafness, Mitral regurgitation, Neonatal death, Atrial septal defect, Pulmonary arteri... |
OMIM:620244 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Dural Sinus Malformation |
|
Myelopathy, Hydrocephalus, Hypoplasia of the frontal lobes, Cerebral edema |
ORPHA:97339 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Patent foramen ovale, Hearing impairment |
OMIM:620327 |
Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Abnormality of retinal pigmentation, Hypopigmentation of hair, ... |
ORPHA:167 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Elbow flexion contracture, Broad palm, Abnormality of skin pig... |
OMIM:300868 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmoplantar hyperhidrosis, Palmar hyperkerat... |
OMIM:150400 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Ventricular septal defect, Congenital pulmonary airway malformation, Nail dystrop... |
ORPHA:436252 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Arterial rupture |
OMIM:619115 |
Glutaric Acidemia I |
|
Glutaric aciduria, Hydrocephalus, Ketonuria, Lateral ventricle dilatation |
OMIM:231670 |
Neonatal Lupus Erythematosus |
|
Basal ganglia calcification, Hydrocephalus, Abnormal cerebral white matter morphology |
ORPHA:398124 |
Pseudo-Torch Syndrome 1 |
|
Umbilical hernia, Patent foramen ovale, Low-set ears |
OMIM:251290 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Intracerebral periventricular calcifications, Microcephaly, Cerebral... |
ORPHA:168577 |
Lymphatic Malformation 6 |
|
Abnormal pinna morphology, Cupped ear, Chylothorax, Atrial septal defect, Pleural effusion, Heari... |
OMIM:616843 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Sensorineural hearing impairment, Pulmonic stenosis |
OMIM:614300 |
Sotos Syndrome |
|
Ureteral duplication, Cerebellar vermis hypoplasia, No permanent dentition, Pedal edema, Vesicour... |
ORPHA:821 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sydney crease, Sandal gap, Posteriorly rotated ears, Sparse eyebrow, Ebstein anoma... |
ORPHA:506358 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Atrial septal defect, Abnormal cardiac ventricular function, Tricuspid regurgitati... |
ORPHA:466791 |
Ramos-Arroyo Syndrome |
|
Atrial septal defect, Sparse scalp hair, High anterior hairline, Bilateral sensorineural hearing ... |
ORPHA:1051 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Atrial septal defect, Congenital hip dislocation, Calcaneal epiphyseal stippling, ... |
OMIM:117650 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Abnormal morphology of ulna, Microtia, Chronic otitis media, Um... |
ORPHA:93 |
Mowat-Wilson Syndrome |
|
Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Micropenis, ... |
ORPHA:2152 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Hydrocephalus, Brachycephaly, Skin ulcer, Hypopl... |
ORPHA:2072 |
Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Elbow flexio... |
ORPHA:3206 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Abnormal periventricular ... |
ORPHA:395 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Microcephaly, Hemolytic-uremic syndrome, Cystathioninuria, Hydr... |
OMIM:277400 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Geleophysic Dysplasia 2 |
|
Cone-shaped epiphysis, Short nose, Short foot, Short palm |
OMIM:614185 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous mal... |
OMIM:606721 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv... |
OMIM:614823 |
Floating-Harbor Syndrome |
|
Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epiphysis, Short thumb... |
ORPHA:2044 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Chylothorax, Atrial septal defect, Pleural effusion, Pulmonary edema |
OMIM:617300 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism... |
OMIM:270100 |
Icf Syndrome |
|
Communicating hydrocephalus, Umbilical hernia, Depressed nasal bridge |
ORPHA:2268 |
Penile Agenesis |
|
Urethral atresia, male, Depressed nasal bridge, Hydroureter, Bilateral renal hypoplasia, Unilater... |
ORPHA:49 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Ventricular septal defect, Macrotia, Pigmentary retinopathy, Low-set ears... |
OMIM:118450 |
Sturge-Weber Syndrome |
|
Hydrocephalus, Cerebral calcification, Cerebral cortical atrophy, Iris coloboma |
ORPHA:3205 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Pes planus, Depressed nasal bridge, Hydrocephalus, Renal tubular acidosis, Lateral ventricle dila... |
OMIM:619575 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Renal insufficiency, Ketonuria, Macular coloboma, Microcephaly, Hemolytic-uremic syndrome, Hydroc... |
ORPHA:79282 |
Stickler Syndrome |
|
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Protrusio acetabuli, Depressed nasal ri... |
ORPHA:828 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis |
OMIM:618699 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Portal hypertension, Situs inversus totalis, Pulmonary hypoplasia, Neonatal death, Atrial septal ... |
OMIM:208540 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Alexander Disease |
|
Frontal bossing, Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Agen... |
ORPHA:58 |
Classical Ehlers-Danlos Syndrome |
|
Pes planus, Phalangeal dislocation, Abnormal foot morphology, Hip dislocation, Bladder diverticul... |
ORPHA:287 |
Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b... |
OMIM:127000 |
Singleton-Merten Syndrome 1 |
|
Thickened calvaria, Hypoplastic distal radial epiphyses, Coxa valga, Hip dislocation, Osteolytic ... |
OMIM:182250 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Isolated Cleft Lip |
|
Umbilical hernia, Talipes equinovarus |
ORPHA:199302 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration |
ORPHA:31 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Congenital hip dislocation, Ankle flexion contracture, Elbow flexion contracture... |
ORPHA:2020 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... |
OMIM:300967 |
Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect |
OMIM:241310 |
Whipple Disease |
|
Hydrocephalus, Pedal edema |
ORPHA:3452 |
Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair, Intraalveolar phospholipid accumulation, Pulmonary hemorrhage |
OMIM:222700 |
Encephalocraniocutaneous Lipomatosis |
|
Lipodystrophy, Coarctation of aorta, Multiple lipomas, Abnormal aortic morphology, Interrupted ao... |
ORPHA:2396 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Hydrocephalus, Dry skin, Microcephaly |
ORPHA:220295 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Single transverse palmar crease, Ureterocele |
OMIM:614863 |
Craniopharyngioma |
|
Abnormal frontal bone morphology, Hydrocephalus, Cerebral calcification, Abnormal nasal bone morp... |
ORPHA:54595 |
Amish Lethal Microcephaly |
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Death in infancy, Spina bifida |
ORPHA:99742 |
Hawkinsinuria |
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Sparse hair |
OMIM:140350 |
Johanson-Blizzard Syndrome |
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Atrial septal defect, Sparse scalp hair, Ventricular septal defect, Single transverse palmar crea... |
OMIM:243800 |
Liver Disease, Severe Congenital |
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Dry hair, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Dilatation... |
OMIM:619991 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Syndactyly |
OMIM:224120 |
Hardikar Syndrome |
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Ventricular septal defect, Portal hypertension, Hematemesis, Pulmonary artery stenosis, Partial a... |
OMIM:301068 |
Diamond-Blackfan Anemia 4 |
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Atrial septal defect |
OMIM:612527 |
Functioning Gonadotropic Adenoma |
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Hydrocephalus |
ORPHA:91348 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Bilateral microphth... |
ORPHA:93325 |
Familial Bicuspid Aortic Valve |
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Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... |
ORPHA:402075 |
Abetalipoproteinemia |
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Distal lower limb muscle weakness, Pes cavus, Talipes equinovarus |
ORPHA:14 |
Loeys-Dietz Syndrome 3 |
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Pes planus, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Dolichocephaly, Knee osteoarth... |
OMIM:613795 |
Ehlers-Danlos Syndrome, Vascular Type |
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Narrow nasal ridge, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the ha... |
OMIM:130050 |
Large Congenital Melanocytic Nevus |
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Hydrocephalus |
ORPHA:626 |
Leprosy |
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Absent eyebrow, Alopecia, Autoamputation of digits, Epistaxis, Loss of eyelashes, Sparse body hair |
ORPHA:548 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Recurrent pneumonia, Palmoplantar keratoderma, Nail dystrophy, Sparse hair, Alopecia universalis |
ORPHA:158668 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Sparse hair, Recurrent respiratory infections, Sparse scalp hair, Aplasia of the sweat glands |
OMIM:612132 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Sparse hair, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Native American Myopathy |
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Talipes equinovarus, Camptodactyly |
ORPHA:168572 |
Primrose Syndrome |
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Hip contracture, Sparse scalp hair, Calcification of the auricular cartilage, Absent facial hair,... |
OMIM:259050 |
Full Nf2-Related Schwannomatosis |
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Myelopathy, Hydrocephalus, Remnants of the hyaloid vascular system |
ORPHA:637 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Sparse hair, Thin nail |
OMIM:617799 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Depressed nasal ridge, A... |
ORPHA:95494 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Hip dysplasia, Aspir... |
ORPHA:438213 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Nephrocalcinosis, Aminoaciduria, Communicating hydrocephalus, Cerebral atrophy |
OMIM:616084 |
Neurofibromatosis Type 1 |
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Hydrocephalus, Genu valgum, Slender long bone, Abnormal hip bone morphology, Chorioretinal colobo... |
ORPHA:636 |
Immunodeficiency 87 And Autoimmunity |
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Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrioventricular bl... |
OMIM:619573 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Wrist swelling, Cryptorchidism, Hip dislocation, Genu valgum, Finger swe... |
OMIM:309000 |
Exstrophy-Epispadias Complex |
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Renal insufficiency, Urinary incontinence, Spina bifida, Microcephaly, Epispadias, Penoscrotal tr... |
ORPHA:322 |
Gaucher Disease, Type Iiic |
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Hydrocephalus, Pes cavus |
OMIM:231005 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Hip contracture, Hydrocephalus, Plagiocephaly, Narrow iliac wing, Midface retrusion |
ORPHA:3042 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Death in infancy, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Death in childh... |
OMIM:610505 |
Steinert Myotonic Dystrophy |
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Abnormal cerebral white matter morphology, Mild fetal ventriculomegaly, Shoulder girdle muscle we... |
ORPHA:273 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Short ear |
ORPHA:314647 |
Cystinosis, Nephropathic |
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Hypopigmentation of hair, Retinal pigment epithelial mottling, Metaphyseal widening, Genu valgum,... |
OMIM:219800 |
Orotic Aciduria |
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Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Capillary Malformation-Arteriovenous Malformation |
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Hydrocephalus, Neurogenic bladder, Epistaxis |
ORPHA:137667 |
Medulloblastoma |
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Hydrocephalus |
ORPHA:616 |
Congenital Tracheal Stenosis |
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Ascending aorta hypoplasia, Patent ductus arteriosus, Preductal coarctation of the aorta, Pulmona... |
ORPHA:141127 |
Arima Syndrome |
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Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly, Hypertension |
OMIM:243910 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Patent foramen ovale, Ventricular septal defect, Anomalous origin of right pulmonary artery from ... |
OMIM:610338 |
Holoprosencephaly 1 |
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Microphthalmia, Ethmocephaly, Single ventricle, Alobar holoprosencephaly |
OMIM:236100 |
Mucopolysaccharidosis Type 2 |
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Communicating hydrocephalus, Wide nose, Recurrent upper respiratory tract infections, Wide nasal ... |
ORPHA:580 |
Cryptococcosis |
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Hydrocephalus, Cerebral cortical atrophy, Cerebral edema |
ORPHA:1546 |
Feingold Syndrome Type 1 |
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Patent ductus arteriosus, Interrupted aortic arch |
ORPHA:391641 |
Lymphangioleiomyomatosis |
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Abnormal urinary color, Hydrocephalus, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Diphallia |
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Atrial septal defect, Abnormal heart morphology, Absent thumb, Abnormal pubic bone morphology |
ORPHA:227 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Hydrocephalus |
ORPHA:2736 |
Gaucher Disease |
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Death in infancy, Proteinuria, Hydrocephalus, Hematuria, Ventriculomegaly |
ORPHA:355 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Hydrocephalus, Enlarged kidney |
OMIM:261740 |
Tuberous Sclerosis Complex |
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Renal insufficiency, Cortical dysplasia, Chronic kidney disease, Stage 5 chronic kidney disease, ... |
ORPHA:805 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Congestive heart failure, Recurrent upper respiratory tract infections, Bronchiectasis, Renovascu... |
ORPHA:391487 |
Holoprosencephaly 2 |
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Alobar holoprosencephaly, Single ventricle, Holoprosencephaly, Microphthalmia, Semilobar holopros... |
OMIM:157170 |
Meningioma |
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Hydrocephalus, Urinary incontinence, Abnormality of the sense of smell |
ORPHA:2495 |
Feingold Syndrome 1 |
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Patent ductus arteriosus, Interrupted aortic arch |
OMIM:164280 |
Hypoplasminogenemia |
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Hydrocephalus, Nephrolithiasis, Dandy-Walker malformation |
ORPHA:722 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Ventricular septal defect, Sensorineural hearing impairment, Hypoplastic left heart, Tetralogy of... |
OMIM:618748 |
1P21.3 Microdeletion Syndrome |
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Short nose, Broad nasal tip |
ORPHA:293948 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Sparse pubic hair, Sparse body hair, Sparse axillary hair |
ORPHA:90796 |
Congenital Disorder Of Glycosylation, Type Iim |
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Atrial septal defect, Hypertension, Thick eyebrow |
OMIM:300896 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Hydrocephalus |
ORPHA:91350 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
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Mitral regurgitation, Patent foramen ovale |
OMIM:225250 |
Lumbar Syndrome |
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Myelomeningocele, Spina bifida |
ORPHA:83628 |