Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Frem2 MGI:2444465

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

Fras1 related extracellular matrix protein 2

Synonyms:

6030440P17Rik, my, b2b1562Clo, ne, 8430406N05Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Frem2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Frem2 (3 diseases)
Human diseases predicted to be associated with Frem2 (3151 diseases)

The table below shows human diseases associated to Frem2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Cryptophthalmos, Ankyloblepharon	OMIM:123570
Fraser Syndrome 2	Low-set ears, Atresia of the external auditory canal, Cryptophthalmos, Low anterior hairline, Cut...	OMIM:617666
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Lacrimal duct aplasia, Finger syndactyly, Atresia o...	ORPHA:2052

The table below shows human diseases predicted to be associated to Frem2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Orbital Margin, Hypoplasia Of	Lower eyelid coloboma, Congenital extraocular muscle anomaly, Lacrimal duct atresia	OMIM:165600
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Cryptophthalmos, Ankyloblepharon	OMIM:123570
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Rhizomelia, Microcornea, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Anophthalmi...	OMIM:615877
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Anterior Segment Dysgenesis 3	Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po...	OMIM:601631
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Crossed Polysyndactyly	Finger syndactyly, Upslanted palpebral fissure, Aplasia/Hypoplasia of the thumb, Postaxial hand p...	ORPHA:2935
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Bilateral Acute Depigmentation Of The Iris	Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ...	ORPHA:69736
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Optic atrophy, Upslanted palpebral fissure, Hypoplasia of the fovea, Epicanthus, Ptosis, Iris cyst	OMIM:620086
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Sparse eyebrow, Cupped ear, Ectopic lacrimal punctum, Telecanthus, Lower eyelid col...	OMIM:167730
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis, Aniridia, Telecanthus, Developmental glaucoma	OMIM:206750
Dermochondrocorneal Dystrophy	Abnormality of the hand, Corneal dystrophy, Large hands	ORPHA:79149
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Microphthalmia/Coloboma 10	Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit	OMIM:616428
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Oculotrichoanal Syndrome	Cryptophthalmos, Anophthalmia, Upper eyelid coloboma, Abnormal hair pattern, Nasolacrimal duct ob...	ORPHA:2717
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia...	OMIM:106210
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Norrie Disease	Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom...	OMIM:310600
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Polydactyly, Preaxial I	Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p...	OMIM:174400
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	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 polydactyly type A, Postaxial hand polydactyly	OMIM:618498
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Renal hypoplasia, Redundant neck skin, Hypoplasia of the brainstem, Ureteral age...	OMIM:236500
Limbal Stem Cell Deficiency	Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s...	ORPHA:171673
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Postaxial Acrofacial Dysostosis	Cupped ear, Finger syndactyly, Conductive hearing impairment, Downslanted palpebral fissures, Cam...	ORPHA:246
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Short thumb, Chorioretinal coloboma	OMIM:274205
Gombo Syndrome	Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia	OMIM:233270
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Gms Syndrome	Tricuspid regurgitation, Epicanthus, Rieger anomaly, Downslanted palpebral fissures	ORPHA:2090
Bardet-Biedl Syndrome 18	Cataract, Stage 5 chronic kidney disease, Renal insufficiency, Brachydactyly, Rod-cone dystrophy,...	OMIM:615995
Manitoba Oculotrichoanal Syndrome	Cryptophthalmos, Abnormality of the hairline, Eyelid coloboma, Anophthalmia, Nasolacrimal duct ob...	OMIM:248450
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Aniridia 2	Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly	OMIM:185900
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Gelatinous Drop-Like Corneal Dystrophy	Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit...	ORPHA:98957
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Polydactyly, Postaxial, Type A9	Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:618219
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Spinal Muscular Atrophy With Impaired Intellectual Development	Syndactyly	OMIM:271109
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl...	OMIM:177650
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Low-set ears, Broad proximal phalanges of the hand, Bilateral microphthalmos, Abnormal hair morph...	OMIM:607597
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Vernal Keratoconjunctivitis	Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con...	ORPHA:70476
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Short 5th finger, Low-set ears, Horizontal eyebrow, Hearing impairment, Long eyelashes, Thick eye...	OMIM:618608
Wagr Syndrome	Cataract, Ptosis, Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus	ORPHA:893
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Chorioretinal coloboma, Broad long bones, Abn...	ORPHA:1422
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Polymicrogyria, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosu...	OMIM:615938
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Bartsocas-Papas Syndrome	Popliteal pterygium, Toe syndactyly, Absent thumb, Finger syndactyly, Ankyloblepharon, Aplasia/Hy...	ORPHA:1234
Iridocorneal Endothelial Syndrome	Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi...	ORPHA:64734
Cataract 35	Cataract	OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 36	Cataract	OMIM:613887
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Waardenburg Syndrome, Type 2A	Heterochromia iridis, White eyebrow, White eyelashes, Hypoplastic iris stroma, Synophrys	OMIM:193510
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Thick eyebrow, Radioulnar synostosis, Epicanthus, Clinodactyly of the 5th fing...	ORPHA:3268
Coloboma Of Macula-Brachydactyly Type B Syndrome	Short distal phalanx of finger, Broad thumb, Renal agenesis, Chorioretinal coloboma, Camptodactyl...	ORPHA:1471
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly	OMIM:615991
Syndactyly-Polydactyly-Earlobe Syndrome	Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple...	OMIM:186350
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
15Q11Q13 Microduplication Syndrome	Epicanthus, Clinodactyly of the 5th finger, Finger syndactyly, Downslanted palpebral fissures	ORPHA:238446
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Short Tarsus With Absence Of Lower Eyelashes	Hypoplasia of the lower eyelids, Absent lower eyelashes	OMIM:600269
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju...	ORPHA:163934
Intermediate Uveitis	Vasculitis, Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Macular edem...	ORPHA:279914
Cryptorchidism, Unilateral Or Bilateral	Renal agenesis	OMIM:219050
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic...	OMIM:610256
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio...	OMIM:269400
Bardet-Biedl Syndrome 5	Micropenis, Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Pierson Syndrome	Cataract, Nephrotic syndrome, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypopl...	OMIM:609049
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Abno...	ORPHA:294975
Neovascular Glaucoma	Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino...	ORPHA:94058
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development	Right aortic arch with mirror image branching	OMIM:107500
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Short Syndrome	Hypoplasia of the iris, Megalocornea, Telecanthus, Abnormal pupil morphology, Posterior embryotox...	ORPHA:3163
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Bartsocas-Papas Syndrome 1	Low-set ears, Hypoplastic scapulae, Small nail, Hypoplastic iliac wing, Alopecia totalis, Absent ...	OMIM:263650
Frontonasal Dysplasia 3	Low-set ears, Sparse eyelashes, Upper eyelid coloboma, Absent eyebrow, Microphthalmia, Posteriorl...	OMIM:613456
Ablepharon-Macrostomia Syndrome	Low-set ears, Toe syndactyly, Microtia, third degree, Hearing impairment, Microtia, first degree,...	OMIM:200110
Woolly Hair	Cataract, Abnormal pupil morphology, Sparse lateral eyebrow, Abnormal retinal morphology	ORPHA:170
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia	OMIM:306950
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly	OMIM:613681
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t...	ORPHA:488232
Distal Deletion 6P	Abnormal epiphysis morphology, Ectopia pupillae, Hypoplasia of the iris, Downslanted palpebral fi...	ORPHA:96125
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short 5th finger, Short thumb, Glandular hypospadias, Postaxial hand polydactyly, Short 2nd toe	OMIM:176305
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormally prominent line of Schwalbe, Telecanthus, Rieger anomaly, Absent extraocular muscles, H...	OMIM:109120
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Short thumb,...	ORPHA:2251
Hydrolethalus Syndrome 2	Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Agenesis of corpus callo...	OMIM:614120
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand	ORPHA:2440
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Alopecia, Eyelid coloboma, Anophthalmia, Orbital cyst, Microphthalmia	OMIM:164180
Aniridia And Absent Patella	Cataract, Aniridia, Aplasia/Hypoplasia of the patella	OMIM:106220
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Anophthalmia, Microphthalmia	OMIM:615524
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Meckel Syndrome, Type 10	Postaxial foot polydactyly, Occipital encephalocele, Frontal bossing, Dilated fourth ventricle, A...	OMIM:614175
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ...	OMIM:614195
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Brachyda...	OMIM:613195
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/H...	ORPHA:83461
Aniridia-Absent Patella Syndrome	Cataract, Aniridia, Ptosis, Aplasia/Hypoplasia of the patella	ORPHA:1069
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Peters anomaly, Clinodactyly, Brachydactyly, Ocular anterior segment dysgenesis, Microphthalmia, ...	OMIM:610023
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Biemond Syndrome Type 2	Coloboma, Hypospadias, Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Aniridia, Telecanthus, Corneal opacity, Developmental glaucoma	ORPHA:1064
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Megalocornea-Intellectual Disability Syndrome	Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures, Metatarsus valgus, Astigmat...	ORPHA:2479
2Q24 Microdeletion Syndrome	Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Cataract, Abnormality...	ORPHA:1617
Nivelon-Nivelon-Mabille Syndrome	Micromelia, Optic disc coloboma, Hypoplasia of the iris, Upslanted palpebral fissure, Brachydacty...	OMIM:600092
Neuhauser Syndrome	Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures, Genu valgum, Arachnodactyly...	OMIM:249310
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Hearing impairment, ...	OMIM:183600
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c...	OMIM:221900
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Hidrotic Ectodermal Dysplasia	Small nail, Hearing impairment, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse ha...	ORPHA:189
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
ERI1-related disease	Low-set ears, Ventricular septal defect, Finger joint hypermobility, Dislocated radial head, Spar...	OMIM:608739
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Frontofacionasal Dysplasia	Cataract, Microcornea, Telecanthus, Limbal dermoid, Absent inner eyelashes, Upper eyelid coloboma...	ORPHA:1791
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Broad thumb, Um...	ORPHA:380
Deafness, X-Linked 7	Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can...	OMIM:301018
Ablepharon Macrostomia Syndrome	Toe syndactyly, Hearing impairment, Fine hair, Camptodactyly of finger, Atresia of the external a...	ORPHA:920
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy	OMIM:121820
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Low-set ears, Horizontal eyebrow, Clinodactyly, 2-3 toe syndactyly, Epicanthus, Ptosis, Posterior...	OMIM:619311
Fraser Syndrome 2	Low-set ears, Atresia of the external auditory canal, Cryptophthalmos, Low anterior hairline, Cut...	OMIM:617666
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Toenail dysplasia, Short toe, Umbilical hernia, Apla...	OMIM:615297
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Anophthalmia, Talip...	ORPHA:93323
Jawad Syndrome	Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ...	OMIM:251255
Barber-Say Syndrome	Hearing impairment, Atresia of the external auditory canal, Ectropion, Breast aplasia, Telecanthu...	ORPHA:1231
Anophthalmia Plus Syndrome	Aplasia/Hypoplasia of the earlobes, Deviation of finger, Low-set, posteriorly rotated ears, Anoph...	ORPHA:1104
Axenfeld-Rieger Syndrome, Type 3	Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ...	OMIM:602482
Aniridia 3	Cataract, Aniridia	OMIM:617142
Phacoanaphylactic Uveitis	Posterior synechiae of the anterior chamber, Hyphema, Corneal keratic precipitates, Pseudophakia,...	ORPHA:209959
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Ventriculomegaly, Hypoplasia of the brainstem, Death in childhood, Hypoplasia of the corpus callo...	OMIM:616486
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency, Polydactyly	OMIM:615987
Orofaciodigital Syndrome Xviii	Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum,...	OMIM:617927
Congenital Rubella Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Corneal opacity, M...	ORPHA:290
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Oculoauricular Syndrome	Cataract, Microcornea, Nasolacrimal duct obstruction, Posterior synechiae of the anterior chamber...	OMIM:612109
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Right aortic arch with mirror image branching	OMIM:606217
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Entr...	OMIM:278730
D-Lactic Aciduria With Gout	Elevated urine D-lactate level, Aniridia, Downslanted palpebral fissures, Lacticaciduria	OMIM:245450
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
WAGR 11p13 deletion syndrome	Renal neoplasm, Aniridia	DECIPHER:35
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, Sparse eyebrow, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 fin...	OMIM:225280
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Corneal Dystrophy, Posterior Polymorphous, 1	Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet...	OMIM:122000
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Optic atrophy, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Ptosis, Retina...	ORPHA:1473
Fraser Syndrome 3	Low-set ears, Short toe, Cryptophthalmos, Simple ear, Cutaneous syndactyly	OMIM:617667
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Nager Syndrome	Sparse lower eyelashes, Aplasia/Hypoplasia of the radius, Hearing impairment, Atresia of the exte...	ORPHA:245
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Spinal dysraphism, Finger syndactyly, Micromelia, Aplasia/Hypoplasia of the co...	ORPHA:1908
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Donnai-Barrow Syndrome	Cataract, Hypoplasia of the iris, Downslanted palpebral fissures, Proteinuria, Short sternum, Ret...	OMIM:222448
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m...	ORPHA:280921
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Macular Dystrophy, Corneal	Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst...	OMIM:217800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Hydronephrosis, Microphthalmia, Scleroco...	OMIM:613001
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Trisomy 13	Cataract, Abnormal pelvic girdle bone morphology, Optic atrophy, Ectrodactyly, Abnormality of the...	ORPHA:3378
Microphthalmia With Limb Anomalies	Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Micr...	OMIM:206920
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep...	OMIM:615937
Neu-Laxova Syndrome 2	Cataract, Toe syndactyly, Finger syndactyly, Ablepharon, Rocker bottom foot	OMIM:616038
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes, White forelock, Poliosis, Atrial septal d...	OMIM:277740
Distal 7Q11.23 Microduplication Syndrome	Aortic aneurysm, Congenital diaphragmatic hernia, Patent ductus arteriosus	ORPHA:261102
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Tietz Syndrome	Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormality of skin pigmentation...	ORPHA:42665
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Depressed nasal bridge, Preaxial polydactyly, Crossed fused renal ecto...	OMIM:618142
Autosomal Recessive Primary Microcephaly	Unilateral renal agenesis, Vesicoureteral reflux, Upslanted palpebral fissure	ORPHA:2512
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Ectopia pupillae, Cone/cone-rod dystrophy, Bowing of the long bones, Microphthal...	ORPHA:85167
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Treacher Collins Syndrome 4	Preauricular hair displacement, Lower eyelid coloboma, Conductive hearing impairment, Downslanted...	OMIM:618939
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me...	ORPHA:98973
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Meckel Syndrome, Type 8	Low-set ears, Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Talipes equinova...	OMIM:613885
Zechi-Ceide Syndrome	Low-set ears, Short distal phalanx of finger, Abnormal helix morphology, Conductive hearing impai...	ORPHA:217017
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Axenfeld-Rieger Syndrome	Telecanthus, Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber mor...	ORPHA:782
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Hypoplasia of the corpus ...	OMIM:175700
Joubert Syndrome 15	Nephronophthisis, Preaxial polydactyly, Exencephaly, Coloboma, Micropenis	OMIM:614464
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly	OMIM:600384
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Lacrimal duct aplasia, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split han...	DECIPHER:46
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach...	OMIM:610202
Hereditary Continuous Muscle Fiber Activity	Type 1 muscle fiber predominance, Congenital diaphragmatic hernia	ORPHA:972
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa...	OMIM:309630
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre...	OMIM:618780
Corneal Dystrophy, Posterior Amorphous	Iris coloboma, Corneal dystrophy, Ectopia pupillae	OMIM:612868
Ventriculomegaly And Arthrogryposis	Hand clenching, Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equ...	OMIM:619501
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Renal hy...	ORPHA:2092
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Bartsocas-Papas Syndrome 2	Axillary pterygium, Low-set ears, Small hand, Ankyloblepharon, Popliteal pterygium, Absent distal...	OMIM:619339
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Ventriculomegaly, Cerebellar agenesis, Redundant neck skin, Cerebellar hypoplasi...	OMIM:617967
Teebi Hypertelorism Syndrome 2	Hearing impairment, Thick eyebrow, Upper eyelid coloboma, Ptosis, Clinodactyly of the 5th finger,...	OMIM:619736
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Low-set, posteriorly rotated ears, Abnormal hip bone...	ORPHA:1597
Piebaldism	Hypopigmented skin patches, Hearing impairment, White forelock, Heterochromia iridis, White eyebr...	ORPHA:2884
Fraser Syndrome 1	Low-set ears, Small nail, Atresia of the external auditory canal, Abnormal middle ear morphology,...	OMIM:219000
Acrofacial Dysostosis Syndrome Of Rodriguez	Low-set ears, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Single tr...	OMIM:201170
Terminal Osseous Dysplasia	Toe clinodactyly, Low-set ears, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg s...	OMIM:300244
Distal Deletion 13Q	Iris coloboma, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Microcephaly, Aplasia/Hy...	ORPHA:1590
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Hydranencephaly, Retinal coloboma, Camptodactyly of fin...	ORPHA:2839
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A...	ORPHA:54
Palmoplantar Carcinoma, Multiple Self-Healing	Finger joint hypermobility, Palmoplantar keratoderma, Limbal stem cell deficiency, Corneal neovas...	OMIM:615225
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Bardet-Biedl Syndrome 9	Cataract, Postaxial foot polydactyly, Attenuation of retinal blood vessels, Renal insufficiency, ...	OMIM:615986
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Sensorineural hearing ...	ORPHA:998
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph...	ORPHA:39044
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea...	OMIM:619947
Gillespie Syndrome	Aniridia, Hypoplasia of the iris	OMIM:206700
Corneal Dystrophy, Posterior Polymorphous, 3	Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae	OMIM:609141
Waardenburg Syndrome, Type 2B	Premature graying of hair, Telecanthus, White forelock, Sensorineural hearing impairment, Heteroc...	OMIM:600193
Microhydranencephaly	Hydranencephaly, Ventriculomegaly, Hypoplasia of the brainstem, Prominent nasal bridge, Agenesis ...	OMIM:605013
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Hypoplastic thumbnail, Short distal phalanx of finger, Short palpebral fissure, Broad thumb, Shor...	ORPHA:370010
Trisomy 12P	Abnormality of the urinary system, Thick eyebrow, Aplasia/Hypoplasia of the iris, Epicanthus, Lar...	ORPHA:1699
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Microcephaly-Micromelia Syndrome	Low-set ears, Absent thumb, Short tibia, Micromelia, Oligodactyly, Humeroradial synostosis, Neona...	OMIM:251230
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Abnormality of the palmar creases, Rieger anomaly, Nephrolithiasis, Primary congenital glaucoma, ...	ORPHA:521445
Axenfeld-Rieger Syndrome, Type 1	Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of...	OMIM:180500
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol...	ORPHA:2722
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Hand clenching, Joint contracture of the hand, Slender finger...	OMIM:251300
Galactosialidosis	Cherry red spot of the macula, Corneal opacity	ORPHA:351
Duane Retraction Syndrome	Chorioretinal coloboma, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Blepharophimosis, A...	ORPHA:233
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Distal shorte...	OMIM:146510
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Renal insufficiency, Corneal opacity	ORPHA:281090
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Hypoplasia of the ear cartilage, Macrotia, Trichorrhexis nodosa, Spa...	ORPHA:113
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Atresia of the external auditory canal, ...	OMIM:614900
Fuchs Heterochromic Iridocyclitis	Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat...	ORPHA:263479
Brachydactyly Type A4	Shortening of all middle phalanges of the toes, Short middle phalanx of the 2nd finger, Talipes e...	ORPHA:93394
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Myopathy, Tubular Aggregate, 1	Weakness of the intrinsic hand muscles, Abnormal pupil morphology	OMIM:160565
Hypomelanosis Of Ito	Cataract, Radial deviation of finger, Clinodactyly, Epicanthus, Hand polydactyly, Iris coloboma, ...	OMIM:300337
Arthrogryposis, Distal, Type 2B2	Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Talipes equinovalgus, Overlap...	OMIM:618435
Sclerosteosis	Finger syndactyly, Fingernail dysplasia, Curved distal phalanges of the hand, Sensorineural heari...	ORPHA:3152
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Laurence-Moon Syndrome	Cataract, Finger syndactyly, Renal insufficiency, Bilateral single transverse palmar creases, Dis...	ORPHA:2377
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t...	ORPHA:364055
Pontocerebellar Hypoplasia, Type 12	Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Hypoplasia of the brainstem,...	OMIM:618266
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber	OMIM:618880
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Encephalocele, Agenesis of corpus callosum, Talipes equinovarus, Small thenar em...	OMIM:619148
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Abnormal foot morphology, Microcephaly, ...	ORPHA:64754
Insulin-Like Growth Factor I, Resistance To	Highly arched eyebrow, Small hand, Sandal gap, Clinodactyly, Short finger, Radial deviation of fi...	OMIM:270450
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Encephalocele, Hypoplasia of the corpus callosum, Bowing of the lo...	OMIM:611134
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 3rd toe, Oligodactyly, Abnormality of the hand, Atrial septal defect, Frontal...	ORPHA:521308
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V...	OMIM:143200
Craniofacial Microsomia 2	Microtia, first degree, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Micr...	OMIM:620444
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Postaxial polydactyly, B...	OMIM:614500
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly	ORPHA:2730
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Leukocoria, Retinal detachment, Short lower limbs, Hypertension, Bowing of the legs	OMIM:219250
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol...	ORPHA:3258
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly...	ORPHA:2091
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Short thumb, Chorioretinal coloboma, Epicanthus, Short metacarpal	ORPHA:2489
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Morm Syndrome	Cataract, Retinal atrophy, Abnormality of the kidney, Micropenis, Retinal dystrophy	ORPHA:75858
Fetal Encasement Syndrome	Tetralogy of Fallot, Congenital diaphragmatic hernia, Omphalocele	OMIM:613630
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane, Brachydactyly	ORPHA:79414
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Unilateral wrist flexion contracture, Ventriculomegaly, Overlapping...	OMIM:616531
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Finger syndactyly, Fine hair, Supernumerary nipple, Abnormal fingernail morpho...	ORPHA:1433
Richieri-Costa/Guion-Almeida Syndrome	Downslanted palpebral fissures, Eyelid coloboma, Abnormal digit morphology, Palmoplantar cutis la...	OMIM:268850
Albinism-Deafness Syndrome	Ocular albinism, Congenital sensorineural hearing impairment, Piebald skin depigmentation, Albini...	OMIM:300700
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Alopecia, Coarse hair, Small nail, Cutaneous finger syndactyly, Hyp...	OMIM:613573
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Cone/cone-rod dystrophy, Microphthalmia, Hypoplastic inferior ilia, Short metac...	OMIM:608940
Hec Syndrome	Cardiomyopathy, Abnormal pupil morphology, Arrhythmia, Abnormal retinal vascular morphology, Deve...	ORPHA:2119
Hypotrichosis 10	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
Autoinflammation With Arthritis And Dyskeratosis	Corneal neovascularization, Punctate keratitis, Keratoconjunctivitis sicca, Palmoplantar hyperker...	OMIM:617388
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Patent ductus arteriosus	ORPHA:99811
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy, Split hand, Hand monodactyly, Split foot	OMIM:183800
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Low-set ears, Secundum atrial septal defect, Umbilical hernia, Oligodactyly, Recurrent otitis med...	OMIM:619758
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, Ectopia pupi...	OMIM:618727
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Anteverted nares, Microcephaly, Clinodactyly of the 5th finger, Short...	ORPHA:217340
Wilson-Turner Syndrome	Small hand, Thick eyebrow, Tapered finger, Short foot, Microtia	ORPHA:3459
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Endocrine-Cerebroosteodysplasia	Natal tooth, Focal polymicrogyria, Fibular bowing, Agenesis of corpus callosum, Talipes equinovar...	OMIM:612651
Ophthalmoplegia, Familial Static	Ptosis, Anisocoria	OMIM:165000
Craniofacial Conodysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus	ORPHA:85168
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmentation of the fundus, Ocular albinism, Hypoplasia of the iris, H...	OMIM:611584
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Small hand, Narrow nasal bridge, Microcephaly, Talipes equinovarus, Convex nasal ridge, Overhangi...	ORPHA:85172
Heyn-Sproul-Jackson Syndrome	Sparse hair, Epicanthus, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals	OMIM:618724
Tietz Albinism-Deafness Syndrome	Hypopigmentation of the fundus, Heterochromia iridis, White eyebrow, White eyelashes, Blue irides	OMIM:103500
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Eyelid coloboma, H...	ORPHA:1647
Ring Chromosome 8 Syndrome	Deviation of finger, Abnormality of the ureter, Anteverted nares, Hydronephrosis, Frontal bossing...	ORPHA:1450
Catel-Manzke Syndrome	Highly arched eyebrow, Abnormal epiphysis morphology, Camptodactyly of finger, Low-set, posterior...	ORPHA:1388
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga	OMIM:613618
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Aphalangy-Syndactyly-Microcephaly Syndrome	Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing...	ORPHA:1113
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Unilateral renal agenesis, Broad distal phalanx of finger, Hydroureter, Bilateral renal agenesis,...	OMIM:619194
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Finger syndactyly, Clinodactyly, Limbal stem cell deficiency, Keratoconjunctiviti...	ORPHA:2363
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly	OMIM:615984
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Hydranencephaly, Short distal phalanx of finger, Underdeveloped nasal ...	OMIM:601355
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Downslanted palpebral fissures, Aniridia, Camptodactyly of ...	ORPHA:251038
Birdshot Chorioretinopathy	Cataract, Choroidal neovascularization, Retinal thinning, Epiretinal membrane, Attenuation of ret...	ORPHA:179
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Chorioretinal coloboma, Hematuria, Microphthalmia, Iris coloboma	OMIM:120433
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Short Syndrome	Cataract, Radial deviation of finger, Slender long bone, Megalocornea, Clinodactyly, Telecanthus,...	OMIM:269880
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Highly arched eyebrow, Toe syndactyly, Short toe, Camptodactyly o...	ORPHA:1327
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Alopecia, Cupped ear, Conductive hearing impairment, Stenosis of the external audit...	OMIM:616367
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Aplastic clavicle, Depressed nasal bridge, Ventriculomegaly, Microm...	OMIM:616546
Even-Plus Syndrome	Epiphyseal dysplasia, Highly arched eyebrow, Dysplasia of the femoral head, Patent foramen ovale,...	OMIM:616854
Sweeney-Cox Syndrome	Low-set ears, Short distal phalanx of finger, Crumpled ear, Cupped ear, Small nail, Hearing impai...	OMIM:617746
Meckel Syndrome, Type 2	Encephalocele, Polydactyly, Bowing of the long bones, Renal cyst, Postaxial hand polydactyly, Men...	OMIM:603194
Winchester Syndrome	Broad metacarpals, Osteolysis involving tarsal bones, Carpal osteolysis, Corneal opacity	OMIM:277950
Galactosemia Ii	Cataract, Galactosuria	OMIM:230200
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Coxoauricular Syndrome	Hip dislocation, Hearing impairment, Microtia	OMIM:122780
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Palmoplantar keratoderma, Sparse body hair, Congenital onychodyst...	ORPHA:2890
Dubowitz Syndrome	Hypospadias, Short palpebral fissure, Sparse lateral eyebrow, Megalocornea, Hypoplasia of the iri...	OMIM:223370
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Oxycephaly, Preaxial foot polyd...	ORPHA:65759
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transvers...	OMIM:617866
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy...	OMIM:618820
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ...	ORPHA:3216
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Acropectorovertebral Dysplasia	Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d...	OMIM:102510
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Postaxial Acrofacial Dysostosis	Low-set ears, Congenital hip dislocation, Cupped ear, Short thumb, Conductive hearing impairment,...	OMIM:263750
Waardenburg Syndrome, Type 1	Hypopigmentation of the fundus, Telecanthus, Thick eyebrow, Heterochromia iridis, White eyebrow, ...	OMIM:193500
Treacher Collins Syndrome 3	Lower eyelid coloboma, Conductive hearing impairment, Microtia, Downslanted palpebral fissures	OMIM:248390
Bardet-Biedl Syndrome 4	Renal cyst, Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Abruzzo-Erickson Syndrome	Hypospadias, Ulnar deviation of finger, Toe syndactyly, Microcornea, Short toe, Chorioretinal col...	ORPHA:921
Isolated Ectopia Lentis	Hypertension, Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Persistent Hyperplastic Primary Vitreous	Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Hemorrhage of...	ORPHA:91495
Masa Syndrome	Ventriculomegaly, Pes cavus, Agenesis of corpus callosum, Microcephaly, Talipes equinovarus, Addu...	OMIM:303350
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Arachnodactyly, Occipital encephalocele, Humeroradial synostosis	OMIM:614416
1Q21.1 Microduplication Syndrome	Frontal bossing, Talipes equinovarus, Hydrocephalus, Hip dysplasia, Hypospadias, Hip dislocation	ORPHA:250994
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Unilateral renal agenesis, Talipes equinovarus, Adducted thumb, Development...	OMIM:616603
Biemond Syndrome Ii	Iris coloboma, Hydrocephalus, Preaxial hand polydactyly	OMIM:210350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Hearing impairment, Sparse body hair, Melanocytic nevus, Hydrocephalus, Abn...	ORPHA:1008
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Orbital craniosynostosis, Cerebellar hypoplasia, Hydrocephalus, Dolichocephaly, Frontal bossing, ...	ORPHA:1538
Linear Skin Defects With Multiple Congenital Anomalies 2	Tetralogy of Fallot, Congenital diaphragmatic hernia, Microphthalmia	OMIM:300887
Meckel Syndrome, Type 11	Polycystic kidney dysplasia, Polydactyly	OMIM:615397
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Short palpebral fissure, Short 5th toe, Hypoplastic fifth fingern...	OMIM:614814
Traboulsi Syndrome	Cataract, Homocystinuria, Ectopia lentis, Broad hallux, Phakodonesis, Short finger, Downslanted p...	OMIM:601552
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Retin...	OMIM:613550
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot, Short nose	OMIM:300577
Weiss-Kruszka Syndrome	Low-set ears, Highly arched eyebrow, Cupped ear, Hearing impairment, Horizontal crus of helix, Hy...	OMIM:618619
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia	OMIM:618845
Nanophthalmos 4	Microphthalmia	OMIM:615972
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Camptodact...	ORPHA:2570
Nanophthalmos	Microphthalmia	ORPHA:35612
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Low-set ears, Clinodactyly, Hirsutism, Hypoplasia of the ulna, Microtia, Synophrys	ORPHA:357175
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Lacrimal duct aplasia, Finger syndactyly, Atresia o...	ORPHA:2052
Foveal Hypoplasia 2	Foveal hyperpigmentation, Astigmatism, Axenfeld anomaly, Optic nerve misrouting, Hypoplasia of th...	OMIM:609218
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Unilateral Ocular Duplication	Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Blepharophimosis, Iris coloboma	ORPHA:3374
Hartsfield Syndrome	Aplasia/Hypoplasia of the radius, Downslanted palpebral fissures, Low-set, posteriorly rotated ea...	ORPHA:2117
Blepharo-Cheilo-Odontic Syndrome	Conductive hearing impairment, Finger syndactyly, Euryblepharon, Distichiasis, Abnormal eyelid mo...	ORPHA:1997
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Clinodactyly of the 2nd finger, Absent toenail, Ventricular septal defect, Atrial s...	OMIM:620663
Scalp-Ear-Nipple Syndrome	Low-set ears, Broad thumb, Finger syndactyly, Underdeveloped tragus, Epicanthus, Blepharophimosis...	OMIM:181270
Proboscis Lateralis	Chorioretinal coloboma, Unilateral narrow palpebral fissure, Anophthalmia, Abnormal nasolacrimal ...	ORPHA:141099
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Urinary incon...	OMIM:114150
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Transposition of the great arteries	OMIM:231060
Cousin Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Dis...	OMIM:260660
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Renal cyst, Postax...	OMIM:611561
Potocki-Shaffer Syndrome	Wide nasal bridge, Parietal foramina, Underdeveloped nasal alae, Single transverse palmar crease,...	OMIM:601224
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Cardiomegaly, Sparse hair, Macrotia, Syndactyly	OMIM:613576
Rubinstein-Taybi Syndrome 2	Highly arched eyebrow, Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Downsl...	OMIM:613684
Kondoh Syndrome	Interphalangeal joint contracture of finger, Preaxial hand polydactyly, Thick eyebrow, Sparse hai...	OMIM:606242
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Hearing impairment, Premature graying of hair, Telecanthus, White for...	ORPHA:895
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis, Downslanted palpebral fissures, Abnormal distal phalanx morphology of ...	ORPHA:2673
Pierpont Syndrome	High anterior hairline, Short toe, Prominent fingertip pads, Short finger, Hearing impairment, Te...	ORPHA:487825
Oculoauriculovertebral Spectrum With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Preaxial hand polydactyly,...	ORPHA:2549
20P12.3 Microdeletion Syndrome	Broad thumb, Atrial septal defect, Wolff-Parkinson-White syndrome, Thickened helices, Broad hallu...	ORPHA:261295
Cerebrooculofacioskeletal Syndrome 3	Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Talipes equin...	OMIM:616570
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Epicanthus, Upslanted palpebral fissure, Microphthalmia	ORPHA:2528
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Cataract, Small hand, Microcornea, Short palpebral fiss...	OMIM:257850
Johnson Neuroectodermal Syndrome	Alopecia, Conductive hearing impairment, Atresia of the external auditory canal, Preaxial hand po...	ORPHA:2316
Mucoepithelial Dysplasia, Hereditary	Cataract, Corneal neovascularization, Hematuria, Keratoconjunctivitis, Melena, Opacification of t...	OMIM:158310
Cerebrooculonasal Syndrome	Sparse eyebrow, Low-set, posteriorly rotated ears, Anophthalmia, Sparse eyelashes, Abnormal tragu...	ORPHA:66625
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Abnormal lung lobation, T...	ORPHA:1120
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Bilateral triphalangeal thumbs, Toe syndactyly, Small nail, Absent middle phalanx of 5th finger, ...	OMIM:124480
Braddock-Carey Syndrome 2	Atresia of the external auditory canal, Clinodactyly, Hearing impairment, Downslanted palpebral f...	OMIM:619981
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Absent tragus, Abnormality of the outer ear, Conductive hearing impairment, Atresia...	ORPHA:79113
Waardenburg Syndrome, Type 3	Joint contracture of the hand, Clinodactyly, Hypopigmented skin patches, Carpal synostosis, Campt...	OMIM:148820
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Clinodactyly, Mitral regurgitation, Epicanthus, Brachydactyly, Osteol...	ORPHA:88630
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Ventriculomegaly, Plagiocephaly, Clinodactyly, Anteverted nares, Unilambdoid s...	OMIM:618577
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Talipes, Aplasia/Hy...	ORPHA:2378
Cat-Eye Syndrome	Chorioretinal coloboma, Downslanted palpebral fissures, Renal hypoplasia/aplasia, Hydronephrosis,...	ORPHA:195
Temtamy Syndrome	Low-set ears, Short toe, Telecanthus, Brachydactyly, Microphthalmia, Clinodactyly of the 5th fing...	ORPHA:1777
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Wide nasal bridge, Clinodactyly, Cerebral atrophy, Genu valgum, ...	ORPHA:166024
Blepharocheilodontic Syndrome 2	Euryblepharon, Distichiasis, Nail dysplasia, Cutaneous syndactyly, Ectropion of lower eyelids, La...	OMIM:617681
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly	Sparse eyebrow, Dry skin, 2-3 toe syndactyly, Long palpebral fissure, 3-4 finger syndactyly	OMIM:600906
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Hearing impairment, Myelomeningocele, Epiphyseal stippling, Brach...	ORPHA:1914
Burn-Mckeown Syndrome	Short palpebral fissure, Conductive hearing impairment, Hearing impairment, Lower eyelid coloboma...	OMIM:608572
Intellectual Developmental Disorder, Autosomal Recessive 35	Low-set ears, Clinodactyly, Hirsutism, Hypoplasia of the ulna, Microtia, Synophrys	OMIM:615162
Orofaciodigital Syndrome Type 10	Aplasia/Hypoplasia of the nails, Polysyndactyly of hallux, Radial deviation of the hand, Short ti...	ORPHA:2756
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Ano...	ORPHA:139471
Arthrogryposis, Distal, Type 7	Cutaneous syndactyly of toes, Talipes equinovarus, Metatarsus adductus, Hip dislocation, Hammertoe	OMIM:158300
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis	OMIM:620009
Warburg-Cinotti Syndrome	Symblepharon, Elbow flexion contracture, Limbal stem cell deficiency, Corneal neovascularization,...	OMIM:618175
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Brachydactyly, Type B2	Aplasia/Hypoplasia of the nails, Short distal phalanx of finger, Cutaneous syndactyly of toes, Di...	OMIM:611377
Frontonasal Dysplasia 1	Low-set ears, Cranium bifidum occultum, Joint contracture of the hand, Conductive hearing impairm...	OMIM:136760
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Depressed nasal bridge, Small hand, Microcephaly, Talipes equinovarus, Short foot, Hip dislocation	OMIM:300434
Frontofacionasal Dysplasia	Cataract, Microcornea, Ankyloblepharon, Telecanthus, Absent inner eyelashes, Eyelid coloboma, Pto...	OMIM:229400
Pierpont Syndrome	High anterior hairline, Short toe, Prominent fingertip pads, Short finger, Unilateral narrow palp...	OMIM:602342
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Arthrogryposis, Distal, Type 1B	Joint contracture of the hand, Foot joint contracture, Talipes equinovarus, Camptodactyly, Rocker...	OMIM:614335
Acrocephalopolydactyly	Limb undergrowth, Brachydactyly, Short long bone, Microtia	ORPHA:221054
Ectrodactyly-Polydactyly	Split hand, Split foot, Postaxial hand polydactyly	OMIM:225290
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Urinary incontinence, Spina bifida occulta, Anencephaly	OMIM:182940
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Renal hypoplasia, Toe syndactyly, Cerebral atrophy, Umbilical hernia, Ant...	ORPHA:171839
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Atresia of the external auditory canal, Umbilical hernia, Low-set, posteriorly rotat...	ORPHA:1770
Deafness, Congenital, With Total Albinism	Albinism, Hearing impairment	OMIM:220900
Nephroblastoma	Hematuria, Aniridia, Hypertension, Nephroblastoma	ORPHA:654
20P13 Microdeletion Syndrome	Low-set ears, Highly arched eyebrow, Hypoplastic helices, Finger syndactyly, Clinodactyly, Downsl...	ORPHA:313781
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Hypopigmented skin patches, Abnormality of the wrist, Abnormal thumb morpholog...	ORPHA:1825
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso...	ORPHA:163654
Desbuquois Syndrome	Small hand, Elbow dislocation, Camptodactyly of finger, Low-set, posteriorly rotated ears, Ventri...	ORPHA:1425
17P13.3 Microduplication Syndrome	Congenital hip dislocation, Ventriculomegaly, Hypoplasia of the corpus callosum, Clinodactyly of ...	ORPHA:217385
Coloboma Of Macula With Type B Brachydactyly	Broad distal phalanx of the thumb, Type B brachydactyly, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Preaxial Hallucal Polydactyly	Preaxial foot polydactyly, Preaxial hand polydactyly	OMIM:601759
Trisomy 18	Iris coloboma, Choanal atresia, Deviation of finger, Aplasia/Hypoplasia of the corpus callosum, C...	ORPHA:3380
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Microphthalmia, Syndromic 13	Microcornea, Chorioretinal coloboma, Ptosis, Microphthalmia, Iris coloboma	OMIM:300915
Neuralgic Amyotrophy	Short palpebral fissure, Redundant neck skin, Epicanthus, Syndactyly, Scapular winging, Upper lim...	ORPHA:2901
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia, Large fleshy ears, Cutaneous finger syndactyly, Telecanthus, Short middle phalanx of th...	OMIM:203550
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Aniridia, Renal insufficiency, Nephroblastoma, Hypospadias	OMIM:194072
Anencephaly 2	Anophthalmia	OMIM:619452
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Large earlobe, Long eyelashes, Thick eyebrow, Anophthalmia, Low anterior hai...	ORPHA:411986
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Oligodactyly, Low-set, posterior...	ORPHA:1307
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Immunodeficiency 10	Nephrotic syndrome, Recurrent urinary tract infections, Hypoplasia of the iris	OMIM:612783
Mosaic Trisomy 14	Camptodactyly of finger, Low-set, posteriorly rotated ears, Bilateral single transverse palmar cr...	ORPHA:1703
Kid Syndrome	Sparse eyebrow, Posterior blepharitis, Palmoplantar keratoderma, Keratitis, Patellar hypoplasia, ...	ORPHA:477
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h...	ORPHA:3329
Otoonychoperoneal Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormal helix morphology, Popliteal pterygium, Abnormal diap...	ORPHA:2793
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Upslanted palpebral fissure, Bone spicule pigment...	OMIM:616108
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Rad...	ORPHA:959
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormality of the pul...	ORPHA:1354
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Abnormal pelvic girdle bone morphology, Finger syndactyly, Atresia of the external ...	ORPHA:3429
Moderate Multiminicore Disease With Hand Involvement	Distal upper limb muscle weakness, Hyporeflexia of upper limbs, Knee dislocation, Talipes equinov...	ORPHA:178145
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia, Abnormal pupil morphology	ORPHA:2151
Congenital Varicella Syndrome	Atypical scarring of skin, Microphthalmia	ORPHA:291
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Abnormal nasophary...	OMIM:607323
Gorlin-Chaudhry-Moss Syndrome	Short distal phalanx of finger, Coarse hair, Conductive hearing impairment, Low anterior hairline...	ORPHA:2095
Aminopterin Syndrome Sine Aminopterin	Low-set ears, Highly arched eyebrow, Joint contracture of the hand, Clinodactyly, Short thumb, Fr...	OMIM:600325
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Coarctation of aorta, Right aortic arch	OMIM:140850
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Cataract, Unilateral renal agenesis, Renal hypoplasia, Short palpebral fissure, Sparse eyebrow, D...	OMIM:620654
Weaver Syndrome	Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Downslanted palpebral fissur...	ORPHA:3447
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of ...	ORPHA:1166
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Cerebral cortical atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy, Hydrocephalus, S...	ORPHA:2703
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Downslanted palpebral fissures	OMIM:612913
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Short palpebral fissure, Abnormality of the ureter, Telec...	ORPHA:3339
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Ulnar deviation of finger, Abnormal optic nerve morphology, Megalocornea, Camptodactyly of finger...	ORPHA:1101
8Q22.1 Microdeletion Syndrome	Low-set ears, Highly arched eyebrow, Sparse eyebrow, Sandal gap, Finger syndactyly, Camptodactyly...	ORPHA:178303
Wagro Syndrome	Cataract, Downslanted palpebral fissures, Aniridia, Nephroblastoma, Proteinuria, Ptosis, Corneal ...	OMIM:612469
Senior-Loken Syndrome	Chronic kidney disease, Cataract, Cone-shaped epiphysis, Nephronophthisis, Stage 5 chronic kidney...	ORPHA:3156
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ...	ORPHA:2438
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Spastic Paraplegia 64, Autosomal Recessive	Microcephaly, Talipes equinovarus, Abnormal cerebral white matter morphology	OMIM:615683
Trisomy 9P	Downslanted palpebral fissures, Abnormal pupil morphology, Bilateral single transverse palmar cre...	ORPHA:236
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy	OMIM:271310
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Downslanted palpebral fissures, 2-3 toe syndactyly, Talipes equinovaru...	ORPHA:3306
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, Joint contracture of the 5th finger, Clinodactyly of the 5th finge...	OMIM:248910
Linear Verrucous Nevus Syndrome	Cataract, Toe syndactyly, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fove...	ORPHA:2611
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida	ORPHA:2476
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Downslanted palpebral fissures, Large earlobe, Polydactyly, Epicanthus, Microphthalmia, Syndactyly	OMIM:602501
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a...	OMIM:613854
Mmep Syndrome	Triphalangeal thumb, Ventricular septal defect, Split foot, Microphthalmia	ORPHA:3434
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor...	OMIM:614292
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Ectopia lentis, Abnormality of retinal pigmentation, Ptosis, Palpebral edema, Iris coloboma	ORPHA:1259
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Ciliary Dyskinesia, Primary, 40	Congenitally corrected transposition of the great arteries, Right aortic arch, Patent ductus arte...	OMIM:618300
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Hearing impairment, Radial club hand, Cutaneous finge...	ORPHA:93322
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Low-set ears, Metaphyseal cupping, Micromelia, Wide distal femor...	OMIM:613320
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Cupped ear, Ocular albinism, Hearing abnormality, Aplasia/Hypoplasia of the thumb, Hypoplasia of ...	ORPHA:1352
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pupillae, Retinal ar...	OMIM:175780
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Optic atrophy, Long hallux, Cone-shaped epiphyses of the phalanges of ...	OMIM:101800
Alagille Syndrome	Keratoconus, Short distal phalanx of finger, Nephrotic syndrome, Downslanted palpebral fissures, ...	ORPHA:52
Acalvaria	Calvarial skull defect, Talipes, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spina bifid...	ORPHA:945
Spastic Paraplegia 47, Autosomal Recessive	Wide nasal bridge, Genu recurvatum, Ventriculomegaly, Bulbous nose, Abnormal periventricular whit...	OMIM:614066
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup...	OMIM:135750
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Pes cavus, Distal low...	OMIM:619216
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Small hand, Clinodactyly, Thick eyebrow, Upslanted palpebral fissure, Abnormal pinna morphology, ...	OMIM:614684
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication	Talipes equinovarus, Hip dysplasia	ORPHA:238578
Monosomy 5P	Small hand, Finger syndactyly, Downslanted palpebral fissures, Low-set, posteriorly rotated ears,...	ORPHA:281
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Developmental Delay With Variable Neurologic And Brain Abnormalities	Sparse lateral eyebrow, Upslanted palpebral fissure, Down-sloping shoulders, Cubitus valgus, Long...	OMIM:619694
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Ectrodactyly, Radial club hand...	ORPHA:2878
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Sparse eyebrow, Conductive hearing impairment, Finger clinodactyly, Camptodactyly of finger, Low-...	ORPHA:306542
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Highly arched eyebrow, Sparse eyebrow, Broad thumb, High anterior hairline, San...	OMIM:600987
Trisomy 1Q	Aplasia/Hypoplasia of the nails, Low-set ears, Abnormality of the outer ear, Toe syndactyly, Camp...	ORPHA:261344
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Long eyelashes, Thick eyebrow, Generalized hirsutism, Abnormal hair pattern, T...	ORPHA:1514
Hydrolethalus	Micromelia, Absent septum pellucidum, Abnormality of the sense of smell, Agenesis of corpus callo...	ORPHA:2189
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Hearing impairment, Syndactyly, Pulmonary lymphangiectasia, Camptodactyly, Pericardial lymphangie...	OMIM:616006
Schisis Association	Micromelia, Encephalocele, Microcephaly, Spina bifida, Anencephaly	ORPHA:63862
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Hamartoma of the orbital region, Sparse eyebrow, Cupped ear, Bilateral microphthalm...	ORPHA:2399
Neu-Laxova Syndrome 1	Cataract, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Microme...	OMIM:256520
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Short palpebral fissure, Recurrent urinary tract infections, Horseshoe...	OMIM:613680
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Ab...	ORPHA:3214
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Microtia, Symphalangism affecting the phalanges of the hand, Camptodactyly of finger	ORPHA:2547
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Abnormal antihelix morphology, Brachydactyly, Split hand, Aplasia/...	ORPHA:2145
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Toe syndactyly, Occipital encephalocele, Postaxial foot polydactyly, Micr...	OMIM:241800
Jacobsen Syndrome	Iris coloboma, Microcornea, Optic atrophy, Chorioretinal coloboma, Telecanthus, Eyelid coloboma, ...	OMIM:147791
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis, Microtia	OMIM:141300
Blepharocheilodontic Syndrome 1	High anterior hairline, Clinodactyly, Small nail, Euryblepharon, Distichiasis, Nail dysplasia, Cu...	OMIM:119580
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Apl...	ORPHA:93258
Meckel Syndrome, Type 6	Postaxial foot polydactyly, Occipital encephalocele, Horseshoe kidney, Renal cyst, Talipes equino...	OMIM:612284
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Cataract, Retinal thinning, Genu valgum, Asteroid hyalosis, Brachydactyly, ...	OMIM:132450
Charlie M Syndrome	Finger syndactyly, Abnormal fingernail morphology, Abnormal toenail morphology, Abnormal metacarp...	ORPHA:1406
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,...	ORPHA:90652
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Low-set, posteriorly ...	ORPHA:2994
Buratti-Harel Syndrome	Low-set ears, Recurrent pneumonia, Broad thumb, Broad hallux, Small nail, Sparse medial eyebrow, ...	OMIM:619314
Acitretin/Etretinate Embryopathy	Cupped ear, Abnormality of the calcaneus, Third degree atrioventricular block, Atrioventricular c...	ORPHA:40366
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the an...	ORPHA:79098
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair	OMIM:601553
Stromme Syndrome	Wide nasal bridge, Cerebellar vermis hypoplasia, Bilateral renal hypoplasia, Preaxial polydactyly...	OMIM:243605
White Forelock With Malformations	Finger syndactyly, Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, White forel...	ORPHA:2475
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Prieto Syndrome	Clinodactyly, Cerebral atrophy, Radial deviation of finger, Prominent nose, Talipes equinovarus, ...	OMIM:309610
Chromosome 1Q41-Q42 Deletion Syndrome	Low-set ears, Sparse eyebrow, Sandal gap, Small nail, Supernumerary nipple, Ventricular septal de...	OMIM:612530
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc...	ORPHA:1106
Peho-Like Syndrome	Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Progressive microcephaly, Sh...	OMIM:617507
Alexander Disease	Microcoria	OMIM:203450
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Momo Syndrome	Bilateral microphthalmos, Downslanted palpebral fissures, Femoral bowing, Eyelid coloboma, Epican...	ORPHA:2563
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Low-set ears, Small hand, Sandal gap, Clinodactyly, Long eyelashes, Short foot, Posteriorly rotat...	OMIM:618089
X-Linked Intellectual Disability, Stocco Dos Santos Type	Depressed nasal bridge, Talipes equinovarus, Congenital bilateral hip dislocation	ORPHA:85288
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Polymicr...	OMIM:617201
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
6Q16 Microdeletion Syndrome	Low-set ears, Thick eyebrow, Abnormal ear morphology, Tapered finger, Microtia	ORPHA:171829
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias	OMIM:600057
Limb Body Wall Complex	Wide nasal bridge, Iris coloboma, Choanal atresia, Depressed nasal bridge, Broad hallux, Myelomen...	ORPHA:2369
Distal Xq28 Microduplication Syndrome	Epistaxis, Recurrent upper respiratory tract infections, Clinodactyly, Absent antihelix, Patent f...	ORPHA:293939
Spastic Paraplegia 33, Autosomal Dominant	Talipes equinovarus, Ankle clonus	OMIM:610244
Hoxha-Aliu Syndrome	Low-set ears, Overlapping toe, Absent toenail, Absent fifth metatarsal, Epicanthus, Uplifted earl...	OMIM:620662
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia	OMIM:617661
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos...	ORPHA:231736
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Elbow dislocation, Short thumb, Abnormal lung lobation, Oligodactyly, Ectrodac...	ORPHA:2538
Cardiocranial Syndrome, Pfeiffer Type	Low-set ears, Slender finger, Abnormal hair whorl, Cutaneous syndactyly of toes, Small hypothenar...	ORPHA:2872
Trichothiodystrophy 4, Nonphotosensitive	Small nail, Trichorrhexis nodosa, Microphthalmia, Concave nail, Nail dystrophy, Sparse eyelashes,...	OMIM:234050
Joubert Syndrome 40	Postaxial polydactyly, Almond-shaped palpebral fissure	OMIM:619582
Beta-Mercaptolactate Cysteine Disulfiduria	Hypoplasia of the ear cartilage, Micromelia, Sandal gap, Umbilical hernia, Low-set, posteriorly r...	ORPHA:1035
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Genu valgum, Low posterior hairline, Abnormal hair pattern, Sp...	ORPHA:2983
Morquio Syndrome C	Corneal opacity	OMIM:252300
Sandestig-Stefanova Syndrome	Low-set ears, Highly arched eyebrow, Clinodactyly, Sparse medial eyebrow, Underdeveloped tragus, ...	OMIM:618804
Corneal Dystrophy, Congenital Stromal	Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Low-set ears, Highly arched eyebrow, Broad thumb, Toe syndactyly, Hearing impairment, Aplasia/Hyp...	ORPHA:505237
Orofaciodigital Syndrome Viii	Telecanthus, Syndactyly, Short tibia, Polydactyly	OMIM:300484
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Hearing impairment, Atelectasis, Camptodactyly of finger, White hair,...	ORPHA:896
Limb-Mammary Syndrome	Joint contracture of the hand, Lacrimal duct atresia, Nail dysplasia, Hypoplastic nipples, Hallux...	OMIM:603543
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Wide nasal bridge, Underdeveloped nasal alae, Umbilical hernia, Frontal bossing, Hypoplasia of th...	ORPHA:1516
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Atelis Syndrome 1	Irregular hyperpigmentation, Glue ear, Ventricular septal defect, Atrial septal defect, Cafe-au-l...	OMIM:620184
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Muscular dystrophy, Microphthalmia	OMIM:614830
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia	OMIM:257910
6P22 Microdeletion Syndrome	Low-set ears, Finger syndactyly, Clinodactyly, Hearing impairment, Epicanthus, Overfolded helix	ORPHA:251046
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiph...	ORPHA:3082
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Atresia of the external auditory canal, Micromelia, Heari...	ORPHA:1508
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Adams-Oliver Syndrome	Finger syndactyly, Encephalocele, Abnormal metacarpal morphology, Microphthalmia, Sparse hair, Ab...	ORPHA:974
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Low-set ears, Genu valgum, Mitral valve prolapse, Low posterior hairline, Ta...	OMIM:245600
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Ventriculomegaly, Polymicrogyria, Hypoplasia of the brainstem, Agenesis of corpu...	OMIM:225790
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma	ORPHA:2921
Warburg Micro Syndrome 1	Low-set ears, Facial hypertrichosis, Hypertrichosis, Overlapping toe, Ptosis, Microphthalmia, Mac...	OMIM:600118
Ring Chromosome 12 Syndrome	Low-set ears, Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Dystrophic...	ORPHA:1439
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Tarp Syndrome	Low-set ears, Prominent antihelix, Subdural hemorrhage, Clinodactyly, Tetralogy of Fallot, Single...	OMIM:311900
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Aniridia, Brachydactyly, Microphthalmia, Micropenis	OMIM:602361
Intellectual Developmental Disorder, Autosomal Dominant 43	Umbilical hernia, Hirsutism, Attached earlobe, Tapered finger, Hip dysplasia, Microtia, Pulmonic ...	OMIM:616977
Acrofrontofacionasal Dysostosis 2	Low-set ears, Broad thumb, Broad hallux, Downslanted palpebral fissures, Hand polydactyly, Ptosis...	OMIM:239710
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Low-set ears, Alopecia, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Sensorineural he...	ORPHA:3224
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Tarsal sclerosis, Generalized aminoaciduria, Pigmentary retinopathy, ...	ORPHA:404454
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
Nephronophthisis 15	Nephronophthisis, Polydactyly	OMIM:614845
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Hand clenching, Depressed nasal bridge, Congenital knee dislocation, Flexion contracture of finge...	ORPHA:319332
Proteus-Like Syndrome	Cataract, Downslanted palpebral fissures, Abnormal pupil morphology, Heterochromia iridis, Retina...	ORPHA:2969
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Adenylosuccinate Lyase Deficiency	Anteverted nares, Hypointensity of cerebral white matter on MRI, Microcephaly, Brachycephaly, Sho...	ORPHA:46
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Talipes equinovarus, Hypoplasia of the corpus callosum	OMIM:613162
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Oculoauriculofrontonasal Syndrome	Upper eyelid coloboma, Microtia, Limbal dermoid, Conductive hearing impairment	ORPHA:398156
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Talipes equinovarus	ORPHA:85338
Lattice Corneal Dystrophy Type I	Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur...	ORPHA:98964
17Q12 Microduplication Syndrome	Microphthalmia, Toe syndactyly, Finger syndactyly, Synophrys	ORPHA:261272
Alopecia-Intellectual Disability Syndrome	Alopecia, Hearing impairment, Sparse body hair, Macrotia, Split hand, Brachydactyly, Aplasia/Hypo...	ORPHA:2850
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Hypoplastic helices, Clubbing of toes, Ectrodactyly, Myelomeningocele, Low...	ORPHA:2437
Mycophenolate Mofetil Embryopathy	Chorioretinal coloboma, Eyelid coloboma, Ectopic kidney, Microphthalmia, Foot polydactyly, Iris c...	ORPHA:268249
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm	ORPHA:2140
Familial Dysautonomia	Optic atrophy, Abnormal pupil morphology, Renal insufficiency, Heterochromia iridis, Glomerulopat...	ORPHA:1764
Li-Campeau Syndrome	Low-set ears, Patellar hypoplasia, Hypertrichosis, Thick eyebrow, Single transverse palmar crease...	OMIM:619189
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long eyelashes, Short long bone, Short ...	OMIM:102370
Ring Chromosome 10 Syndrome	Low-set ears, Sandal gap, Downslanted palpebral fissures, Large earlobe, Abnormal antihelix morph...	ORPHA:1438
Syndromic X-Linked Intellectual Disability 7	Sparse body hair, Tapered finger	ORPHA:85274
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Optic disc coloboma, Preaxial hand polydactyly, A...	ORPHA:1553
Kagami-Ogata Syndrome	Ventricular septal defect, Pulmonic stenosis, Pulmonary arterial hypertension, Limb undergrowth, ...	OMIM:608149
Microphthalmia, Syndromic 8	Short palpebral fissure, Blepharophimosis, Split foot, Microphthalmia	OMIM:601349
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Distal Duplication 18Q	Choanal atresia, Deviation of finger, Camptodactyly of finger, Anteverted nares, Prominent nasal ...	ORPHA:1716
Jackson-Weiss Syndrome	Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3...	ORPHA:1540
Late-Onset Retinal Degeneration	Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante...	ORPHA:67042
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, G...	OMIM:614078
Joubert Syndrome 16	Nephronophthisis, Encephalocele, Polydactyly, Renal cyst, Coloboma, Dandy-Walker malformation	OMIM:614465
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Low-set ears, Overlapping toe, Overlapping fingers, Ventricular septal defect, Atrial septal defe...	OMIM:618316
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis, Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Fetal pyelectasis	OMIM:619365
Eem Syndrome	Finger syndactyly, Ectrodactyly, Sparse body hair, Abnormality of retinal pigmentation, Absent ey...	ORPHA:1897
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Ventriculomegaly, Camptodactyly of finger, Death in infancy, Hypoplasia of the corpus callosum, T...	ORPHA:1495
Weiss-Kruszka Syndrome	Single transverse palmar crease, Dysplastic corpus callosum, Prominent nasal tip, Clinodactyly of...	ORPHA:502430
Cataract 47	Cataract, Microcornea, Glycosuria	OMIM:612018
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Marfan Syndrome	Aortic regurgitation, Cataract, Microspherophakia, Ectopia lentis, Hypoplasia of the iris, Tricus...	OMIM:154700
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Overlapping toe, Overlappi...	OMIM:618494
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Cataract, Hypoplastic iliac wing, Irregular femoral epiphysis, Genu valgum,...	OMIM:614134
Contractures-Developmental Delay-Pierre Robin Syndrome	Peripheral pulmonary artery stenosis, Short thumb, Overlapping toe, Arachnodactyly, Talipes equin...	ORPHA:436003
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris	ORPHA:169090
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis, Upslanted palpebral fissure, Almond-shaped palpebral fissure	OMIM:619504
Fanconi Anemia, Complementation Group F	Pneumonia, Absent thumb, Short thumb, Conductive hearing impairment, 2-3 finger syndactyly, Hyper...	OMIM:603467
Arthrogryposis, Distal, Type 1C	Shoulder flexion contracture, Camptodactyly of finger, Elbow flexion contracture, Hip contracture...	OMIM:619110
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Hypoplastic scapulae, Natal tooth, Short toe, Short finger, Bowing of the arm, ...	OMIM:269860
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Natal tooth, Occipital encephalocele, Clinodactyly, Abnormality of th...	OMIM:249000
Congenital Hydrocephalus	Small cerebral cortex, Abnormal cortical gyration, Ventriculomegaly, Frontal bossing, Bulbous nos...	ORPHA:2185
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia	OMIM:614100
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Temple-Baraitser Syndrome	Hypoplastic thumbnail, Short distal phalanx of finger, Broad thumb, Broad hallux, Long hallux, Ab...	OMIM:611816
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hypoplastic ilia, Hypoplastic iliac wing, Long hallux, Genu valgum, Delayed pubic bone ossificati...	OMIM:613330
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Epicanthus, Short 4th metacarpal, Brachy...	ORPHA:3210
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Low-set ears, Broad thumb, Finger syndactyly, Downslanted palpebral fissures, Preaxial hand polyd...	ORPHA:2211
Alkuraya-Kucinskas Syndrome	Hand clenching, Clinodactyly, Aplasia/Hypoplasia of the corpus callosum, Overlapping toe, Overlap...	OMIM:617822
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Talipes equinovarus, Upper limb amyotrophy	ORPHA:99940
Holzgreve Syndrome	Renal hypoplasia, Renal agenesis	OMIM:236110
Congenital Herpes Simplex Virus Infection	Microcephaly, Hydranencephaly	ORPHA:293
Chromosome 15Q26-Qter Deletion Syndrome	Wide nasal bridge, Microcephaly, Talipes equinovarus, Brachydactyly, Micropenis, Hypospadias, Sho...	OMIM:612626
Chudley-Mccullough Syndrome	Ventriculomegaly, Polymicrogyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dyspl...	OMIM:604213
Kleeblattschaedel	Craniosynostosis, Elbow ankylosis, Hydrocephalus, Cloverleaf skull	OMIM:148800
Temtamy Preaxial Brachydactyly Syndrome	Highly arched eyebrow, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Synophrys, Brachyd...	OMIM:605282
Dandy-Walker Malformation With Postaxial Polydactyly	Wide nasal bridge, Depressed nasal bridge, Dilated fourth ventricle, Dolichocephaly, Hydrocephalu...	OMIM:220220
Developmental And Epileptic Encephalopathy 36	Small hand, Cerebral atrophy, Anteverted nares, Microcephaly, Hydrocephalus	OMIM:300884
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Ventriculomegaly, Lateral ventricle dilatation, Anteverted nares, Abnorma...	OMIM:613443
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Highly arched eyebrow, Sandal gap, Camptodactyly of finger, Downslante...	OMIM:619951
Oculo-Palato-Cerebral Syndrome	Cataract, Small hand, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Mi...	ORPHA:2714
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Microtia	OMIM:612138
Momo Syndrome	Downslanted palpebral fissures, Eyelid coloboma, Short sternum, Epicanthus, Underfolded helix, La...	OMIM:157980
Joubert Syndrome 20	Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly	OMIM:614970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental...	OMIM:613154
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Cataract, Arthralgia of the hip, Broad hal...	ORPHA:1856
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Upslanted...	ORPHA:1794
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Nail dystrophy, Brachydactyly, Sparse hair	OMIM:619692
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Renal agenesis	OMIM:601076
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Humero-Radial Synostosis	Elbow dislocation, Chorioretinal coloboma, Abnormality of the wrist, Aplasia/Hypoplasia of the th...	ORPHA:3265
Microphthalmia, Syndromic 9	Right aortic arch with mirror image branching, Bilateral microphthalmos, Tetralogy of Fallot, Ano...	OMIM:601186
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Renal hypoplasia/aplasia, Epica...	ORPHA:84
Temtamy Syndrome	Ventriculomegaly, Chorioretinal coloboma, Frontal bossing, Agenesis of corpus callosum, Talipes e...	OMIM:218340
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Hypoplasia of the pons, Cerebral atrophy, Prominent nose, Cerebellar hypoplasia, Microcephaly, Ta...	OMIM:616171
Blepharonasofacial Malformation Syndrome	Sparse lateral eyebrow, Finger syndactyly, Hearing impairment, Telecanthus, Low posterior hairlin...	ORPHA:1252
Hypertelorism, Microtia, Facial Clefting Syndrome	Short 5th finger, Conductive hearing impairment, Atresia of the external auditory canal, Abnormal...	OMIM:239800
Diabetic Embryopathy	Spinal dysraphism, Hearing impairment, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Ab...	ORPHA:1926
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the...	OMIM:613751
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Leber Congenital Amaurosis 8	Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Toe syndactyly, Clinodactyly, Atresia of the external auditory canal, Overlapping t...	OMIM:154400
Emanuel Syndrome	Aortic valve stenosis, Congenital hip dislocation, Unilateral renal agenesis, Renal hypoplasia, R...	OMIM:609029
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Split hand, Split foot	OMIM:183700
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, Bilateral elbo...	OMIM:166300
Arthrogryposis, Distal, Type 2E	Microcephaly, Joint contracture of the hand, Foot joint contracture, Talipes equinovarus	OMIM:121070
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Macular atrophy, Retinal detachment, Micropht...	OMIM:212550
Nescav Syndrome	Microcephaly, Talipes equinovarus, Cerebral atrophy	OMIM:614255
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Bulbous nose, Antev...	ORPHA:969
Limb-Mammary Syndrome	Alopecia, Toe syndactyly, Sparse eyebrow, Absent nipple, Oligodactyly, Breast aplasia, Protruding...	ORPHA:69085
Arthrogryposis, Distal, Type 2B3	Overlapping fingers, Talipes equinovarus, Hallux valgus, Ulnar deviation of the hand, Adducted th...	OMIM:618436
Joubert Syndrome 24	Postaxial foot polydactyly, Polymicrogyria, Cerebellar hypoplasia, Talipes equinovarus, Postaxial...	OMIM:616654
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Joint contracture of the hand, Small hypothenar eminence, Talipes equinovarus, Spina bifida, Smal...	OMIM:211960
Cockayne Syndrome B	Optic atrophy, Microcornea, Pigmentary retinopathy, Square pelvis bone, Hypoplasia of the iris, H...	OMIM:133540
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Brachydactyly-Preaxial Hallux Varus Syndrome	Wide nasal bridge, Broad thumb, Preaxial hand polydactyly, Radial club hand, Brachydactyly, Short...	ORPHA:1278
Adams-Oliver Syndrome 2	Low-set ears, Alopecia, Small nail, Absent distal phalanges, Single transverse palmar crease, Low...	OMIM:614219
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Broad hallux, Downslanted palpebral fissures, Deviation of the 5th fin...	OMIM:616362
Meckel Syndrome, Type 9	Talipes equinovarus, Multicystic kidney dysplasia, Limb undergrowth, Occipital encephalocele	OMIM:614209
Bresek Syndrome	Low-set ears, Alopecia, Hearing impairment, Neonatal death, Protruding ear, Hydrocephalus, Postax...	ORPHA:85284
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Areas of hypopigmentation and hyperpigmentation that do no...	OMIM:210720
Takenouchi-Kosaki Syndrome	Eversion of lateral third of lower eyelids, Hypospadias, Unilateral renal agenesis, Sparse eyebro...	OMIM:616737
Hydrocephalus-Obesity-Hypogonadism Syndrome	Mitral valve prolapse, Low posterior hairline, Short 4th metacarpal, Cubitus valgus, Sparse facia...	ORPHA:2183
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcane...	ORPHA:163966
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Chorioretinal degeneration, Microcornea, Telecanthus, Posterior subcapsular cataract	OMIM:615458
Atelosteogenesis, Type Ii	Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap...	OMIM:256050
Jacobsen Syndrome	Toe clinodactyly, Aortic valve stenosis, Cataract, Toe syndactyly, Microcornea, Finger syndactyly...	ORPHA:2308
Scalp-Ear-Nipple Syndrome	Cataract, Duplication of renal pelvis, Recurrent urinary tract infections, Palpebral edema, Pyelo...	ORPHA:2036
Diprosopus	Anencephaly, Abnormality of the nose	ORPHA:1681
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi...	OMIM:251450
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal metacarpal morphology, Brachydactyly, Hip dyspla...	ORPHA:2370
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Peroneal muscle atrophy, Talipes equinovarus	OMIM:181400
Nabais Sa-De Vries Syndrome, Type 2	Low-set ears, Hypoplastic left heart, Sparse eyebrow, Protruding ear, Clinodactyly of the 5th fin...	OMIM:618829
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Lateral ventricle dilata...	OMIM:210710
Vacterl/Vater Association	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Occipital encephalocele, Abnormal...	ORPHA:887
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Facial Spasm	Anisocoria	OMIM:134300
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Hypertrichosis, Single transverse palmar crease, Ventric...	OMIM:272440
Suleiman-El-Hattab Syndrome	Low-set ears, Highly arched eyebrow, Clinodactyly, Hearing impairment, Thick eyebrow, Single tran...	OMIM:618950
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Cupped ear,...	OMIM:110100
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Cortical dysp...	OMIM:618709
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Clinodactyly, Large fleshy ears, Upslanted palpebral fissure, Arachnodactyly, Overf...	OMIM:619092
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Dilated third ventricle, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calc...	OMIM:620371
Ehlers-Danlos Syndrome, Classic Type, 2	Congenital hip dislocation, Talipes equinovarus, Recurrent sinusitis	OMIM:130010
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Low-set ears, Sparse eyebrow, Toe syndactyly, Finger syndactyly, Downslanted palpebral fissures, ...	ORPHA:73246
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e...	ORPHA:1808
Tukel Syndrome	Carpal synostosis, Congenital fibrosis of extraocular muscles, Postaxial oligodactyly, Carpal bon...	OMIM:609428
Knobloch Syndrome 1	Duplicated collecting system, Band keratopathy, Horizontal eyebrow, Vitreoretinopathy, Bifid uret...	OMIM:267750
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Hand clenching, Congenital hip dislocati...	OMIM:618291
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior synechiae of the anterior chamber, Retinal vasculitis, Tubulointerstitial nephritis, Am...	ORPHA:91500
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Recurrent...	ORPHA:33445
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Erythema, Micromelia, Lateral ventricle dilatation, An...	OMIM:610015
Acrofacial Dysostosis, Palagonia Type	Low-set ears, Small hand, Sparse lateral eyebrow, Finger syndactyly, Thin eyebrow, Sparse eyelash...	ORPHA:1787
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum...	OMIM:607624
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Hearing impairment, Camptodactyly of finger	ORPHA:376
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ca...	OMIM:113000
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
2Q32Q33 Microdeletion Syndrome	Toe clinodactyly, Broad thumb, Anteverted nares, Prominent nasal bridge, Arachnodactyly, Microcep...	ORPHA:251019
Fg Syndrome Type 1	Optic nerve hypoplasia, Cupped ear, Clinodactyly of the 2nd finger, Finger syndactyly, Umbilical ...	ORPHA:93932
Albinism, Oculocutaneous, Type Iv	Albinism, Macular hypoplasia, Hypopigmentation of hair, Blue irides	OMIM:606574
Hydrocephalus, Autosomal Dominant	Cerebellar vermis hypoplasia, Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Aplasia Cutis Congenita	Erythema, Toe syndactyly, Spinal dysraphism, Finger syndactyly, Skin ulcer, Calvarial skull defect	ORPHA:1114
Meckel Syndrome	Cataract, Microcornea, Postaxial foot polydactyly, Multicystic kidney dysplasia, Optic atrophy, P...	ORPHA:564
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Triphalangeal thumb, Compl...	OMIM:141400
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Craniofrontonasal Dysplasia	Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Finger syndactyly, Sandal gap, Camptodac...	ORPHA:1520
Chromosome 8Q22.1 Duplication Syndrome	Short palpebral fissure, Broad thumb, Short thumb, Interphalangeal joint contracture of finger, E...	OMIM:151200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Rhizomelia, Natal tooth, Short tibia, Unicoronal synostosis, Preaxial polydacty...	OMIM:616300
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Crumpled ear, Clinodactyly, Small nail, Hearing impairment, Frontal upsweep of hair, Symphalangis...	OMIM:620494
Corneal Dystrophy, Reis-Bucklers Type	Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal dystrophy, Corneal...	OMIM:608470
Thalidomide Embryopathy	Abnormality of the outer ear, Hearing impairment, Preaxial hand polydactyly, Radial club hand, An...	ORPHA:3312
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm	OMIM:601163
Iniencephaly	Lissencephaly, Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Abnormal occi...	ORPHA:63259
Joubert Syndrome 18	Occipital encephalocele, Horseshoe kidney, Trident pelvis, Agenesis of corpus callosum, Bowing of...	OMIM:614815
Cardiofaciocutaneous Syndrome 2	Low-set ears, Fine hair, Mitral valve prolapse, Absent eyebrow, Curly hair, Sparse hair, Posterio...	OMIM:615278
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Trigonocephaly, Anteverted nares, Microcephaly, Clinodactyly of the 5th finger, Rocker bottom foo...	OMIM:618506
Braddock Syndrome	Unilateral renal agenesis, Blepharophimosis, Epicanthus	ORPHA:52047
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:613780
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Encephalocele, Anencephaly, Talipes,...	ORPHA:1335
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Hand polydactyly, Atrial septal defect, Abnormal 3rd finger morphology...	OMIM:249670
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Low-set ears, Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Retinal pigment e...	OMIM:617102
Cutis Laxa, Autosomal Recessive, Type Iie	Wide nasal bridge, Broad nasal tip, Copper beaten skull, Deep palmar crease, Cutis laxa, Brachyda...	OMIM:619451
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed...	OMIM:600059
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Emanuel Syndrome	Aortic valve stenosis, Congenital hip dislocation, Unilateral renal agenesis, Renal hypoplasia, H...	ORPHA:96170
Clark-Baraitser Syndrome	Depressed nasal bridge, Sandal gap, Clinodactyly, Anteverted nares, Microcephaly, Brachycephaly, ...	OMIM:617752
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Hearing impairment, Genu valgum, A...	OMIM:619721
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Genu valgum, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias	ORPHA:1381
Baraitser-Winter Syndrome 2	Highly arched eyebrow, Hearing impairment, Telecanthus, Long palpebral fissure, Ptosis, Microphth...	OMIM:614583
Verheij Syndrome	Short 5th finger, Wide nasal bridge, Renal hypoplasia, Broad nasal tip, Branchial cyst, Cerebral ...	OMIM:615583
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Broad nasal tip, Finger clinodactyly, Aplasia/Hypoplasia of the cor...	ORPHA:2754
22Q11.2 Deletion Syndrome	Arachnodactyly, Talipes equinovarus, Posterior embryotoxon, Epicanthus, Microphthalmia, Foot poly...	ORPHA:567
Generalized Eruptive Keratoacanthoma	Ectropion, Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca	ORPHA:411777
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Abnormal helix morphology, Cardiomyopathy, Absent hair, Congenital alopecia to...	ORPHA:158687
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:613265
Bardet-Biedl Syndrome 16	Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly	OMIM:615993
Anauxetic Dysplasia 2	Small nail, Hypoplasia of the femoral head, Cubitus valgus, Hypoplastic iliac body, Nail dysplasi...	OMIM:617396
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Aortic regurgitation, Unilateral renal agenesis, Short toe, Astigmatism, H...	ORPHA:464311
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Narrow palm, Hypogonadotropic hy...	ORPHA:177910
Microphthalmia, Lenz Type	Cataract, Microcornea, Hypospadias, Hydroureter, Finger syndactyly, Ankyloblepharon, Camptodactyl...	ORPHA:568
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Protruding ear, Woolly hair, Sparse hair	OMIM:278200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormality of the outer ear, Hearing impairment, Recurrent otitis media, Abnormal palmar dermato...	ORPHA:2728
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis, Long eyelashes, Horizontal eyebrow	OMIM:609757
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Talipes equinovarus, Pes cavus, Upper limb amyotrophy	OMIM:617087
Congenital Disorder Of Glycosylation, Type Id	Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Clinodactyly, Cerebral ...	OMIM:601110
Constricting Bands, Congenital	Eyelid coloboma, Talipes equinovarus, Hand polydactyly, Bladder exstrophy, Syndactyly	OMIM:217100
Focal Dermal Hypoplasia	Low-set ears, Toe syndactyly, Supernumerary nipple, Absent toenail, Anophthalmia, Telangiectasia,...	OMIM:305600
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Scaphocephaly, Genu valgum, Patellar subluxation, Hydrocephalus, Thick corpus callosum, Calcium o...	OMIM:248000
Odontochondrodysplasia	Depressed nasal bridge, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Delayed eruption o...	ORPHA:166272
Atelosteogenesis, Type Iii	Depressed nasal bridge, Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Elbow dis...	OMIM:108721
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Cerebral atrophy, Single transverse palmar crease, Neonatal death, Microcephaly, ...	OMIM:611890
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Low-set ears, Sparse eyebrow, High anterior hairline, Prominent fingertip pads, Downslanted palpe...	OMIM:620098
Fanconi Anemia, Complementation Group S	Clinodactyly, Long eyelashes, Upslanted palpebral fissure, Low anterior hairline, Epicanthus, Ble...	OMIM:617883
Lissencephaly 8	Ventriculomegaly, Occipital encephalocele, Polymicrogyria, Type II lissencephaly, Hypoplasia of t...	OMIM:617255
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Toe syndactyly, Renal agenesis, Horseshoe kidney, Telecanthus, Renal insuff...	ORPHA:140952
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Short toe, Hypoplastic iliac wing, Small epiphyses, Rhizo-meso-a...	OMIM:611717
5Q14.3 Microdeletion Syndrome	Ventriculomegaly, Toe syndactyly, Anteverted nares, Hypoplasia of the corpus callosum, Frontal co...	ORPHA:228384
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal	OMIM:112410
19P13.3 Microduplication Syndrome	Low-set ears, Clinodactyly, Ventricular septal defect, Pulmonary arterial hypertension, Long fing...	ORPHA:447980
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Cockayne Syndrome Type 3	Lentiglobus, Microphthalmia, Optic disc pallor, Corneal ulceration, Retinal dystrophy, Cataract, ...	ORPHA:90324
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Low-set ears, Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Ventricu...	ORPHA:93267
Norrie Disease	Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Micro...	ORPHA:649
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Irregular hyperpigmentation of ...	ORPHA:1818
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Vacterl With Hydrocephalus	Abnormality of the outer ear, Microtia, third degree, Anotia, Anophthalmia, Hydrocephalus, Hypopl...	ORPHA:3412
Miller-Dieker Syndrome	Nephropathy, Cerebral cortical atrophy, Anteverted nares, Hypoplasia of the corpus callosum, Shor...	ORPHA:531
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Anophthalmia, Microphthalmia	ORPHA:2470
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Cupped ear, Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, Joint contracture ...	OMIM:618914
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Arachnodactyly, Retinal detachment, Lens subluxati...	ORPHA:171844
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Intellectual Developmental Disorder, Autosomal Dominant 66	Low-set ears, Toe clinodactyly, Secundum atrial septal defect, Arachnodactyly, Transposition of t...	OMIM:619910
Saethre-Chotzen Syndrome	Low-set ears, Broad thumb, Conductive hearing impairment, Finger syndactyly, Hearing impairment, ...	ORPHA:794
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Ventriculome...	ORPHA:1988
Arthrogryposis, Distal, Type 1A	Hand clenching, Joint contracture of the hand, Congenital hip dislocation, Long nasal bridge, Elb...	OMIM:108120
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Cone-shaped epiphyses of the middle phalanges of the hand, Sparse lateral eyebrow, F...	OMIM:190351
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Elevated urinary dopamine level, Sinus tachycardia, Elevated urinar...	ORPHA:29072
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis, Congenital ptosis	OMIM:110150
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Depressed nasal bridge, Polymicrogyria, Abnormal nasal morphology, Hydrocephalus, Postaxial hand ...	ORPHA:83473
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Fi...	ORPHA:392
X-Linked Intellectual Disability, Siderius Type	Broad nasal tip, Large hands, Preaxial hand polydactyly	ORPHA:85287
Treacher Collins Syndrome 1	Preauricular hair displacement, Conductive hearing impairment, Atresia of the external auditory c...	OMIM:154500
Congenital Disorder Of Glycosylation, Type Iih	Depressed nasal bridge, Ventriculomegaly, Clinodactyly of the 3rd toe, Finger clinodactyly, Micro...	OMIM:611182
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism	ORPHA:90023
Short Stature, Microcephaly, And Endocrine Dysfunction	Cataract, Unilateral renal agenesis, Dilated cardiomyopathy, Renal hypoplasia, Clinodactyly, Limb...	OMIM:616541
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Xk Aprosencephaly Syndrome	Microphthalmia, Ventricular septal defect, Atrial septal defect, Abnormal morphology of the radius	ORPHA:3469
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Clubbing of toes, Broad distal phalanx of finger, Abnormal epiphysis morph...	ORPHA:3051
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Dista...	OMIM:300863
Pontocerebellar Hypoplasia, Type 11	Hypoplasia of the pons, Bulbous nose, Hypoplasia of the corpus callosum, Agenesis of corpus callo...	OMIM:617695
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Fg Syndrome 3	Broad thumb, Broad hallux, Fine hair, Frontal upsweep of hair, Death in infancy, Sensorineural he...	OMIM:300406
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Bifid nasal tip, Ventriculomegaly, Hypoplasia of the olfactory b...	ORPHA:1827
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation...	OMIM:311300
Erythema Of Acral Regions	Talipes equinovarus, Erythema	OMIM:227000
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide nasal base, Wide nasal bridge, Cerebral atrophy, Hydrocephalus, Bilateral talipes equinovaru...	OMIM:616521
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Sparse hair, Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Clino...	OMIM:614813
Beemer Lethal Malformation Syndrome	Wide nasal bridge, Hydrocephalus	OMIM:209970
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Cupped ear, Interphalangeal thumb joint contracture, Ventricular septal defect, Posteriorly rotat...	OMIM:613870
Fanconi Anemia, Complementation Group G	Multiple cafe-au-lait spots, Abnormal thumb morphology, Microphthalmia	OMIM:614082
Charcot-Marie-Tooth Disease, Type 4H	Small hypothenar eminence, Pes cavus, Distal lower limb muscle weakness, Talipes equinovarus, Sma...	OMIM:609311
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Umbilical hernia, Prominent nasal bridge, Pes cavus, Single transverse palmar cr...	OMIM:613544
Oculoectodermal Syndrome	Microcornea, Hypertrophic cardiomyopathy, Transient ischemic attack, Astigmatism, Eyelid coloboma...	OMIM:600268
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Cerebral atrophy, Prominent nose, Patellar subluxation, Bilateral talipes eq...	ORPHA:2958
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Sandal gap, Widely spaced toes, Alopecia totalis, Neonatal death, Mitten de...	OMIM:609638
Holoprosencephaly 5	Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ...	OMIM:609637
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Plagiocephaly, Clinodactyly, Bulbous nose, Talipes equinovarus, Brachycep...	OMIM:616789
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Turricephaly, Brachycephaly, Hydrocephalus	ORPHA:1532
Wound Botulism	Cardiac arrest, Mydriasis, Ptosis, Urinary retention	ORPHA:178475
Coffin-Siris Syndrome 5	Short distal phalanx of finger, Sandal gap, Dystrophic toenail, Long eyelashes, Thick eyebrow, Hy...	OMIM:616938
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Abnormal helix morphology, Synostosis of carpal bones, Finger syndactyly, Short middle ...	ORPHA:1005
Intellectual Developmental Disorder, Autosomal Recessive 61	Prominent fingertip pads, Secondary microcephaly, Bulbous nose, Prominent nose, Pes cavus, Hypopl...	OMIM:617773
Hydrolethalus Syndrome 1	Hypospadias, Abnormal cortical gyration, Stillbirth, Preaxial hand polydactyly, Upper limb underg...	OMIM:236680
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Cerebral atrophy, Arachnodactyly, Talipes equinovarus, Brachycephaly, Adducted thumb, Camptodacty...	OMIM:615539
Orofaciodigital Syndrome Xvii	Renal hypoplasia, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of th...	OMIM:617926
Marfan Syndrome	Aortic regurgitation, Lens luxation, Ectopia lentis, Hypoplasia of the iris, Congestive heart fai...	ORPHA:558
Neurooculocardiogenitourinary Syndrome	Low-set ears, Tricuspid regurgitation, Patent foramen ovale, Sensorineural hearing impairment, Ve...	OMIM:618652
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Unilateral renal agenesis, Toe syndactyly, Astigmati...	ORPHA:464306
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Abn...	ORPHA:1515
Microphthalmia/Coloboma 9	Microcornea, Microphthalmia, Ptosis, Retinal detachment, Ocular anterior segment dysgenesis, Narr...	OMIM:615145
Iatrogenic Botulism	Ptosis, Mydriasis, Urinary retention, Orthostatic hypotension	ORPHA:254509
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Recurrent shoulder dislocation, Mitral regurgitation, Dow...	OMIM:212112
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Catifa Syndrome	Camptodactyly, Microtia	OMIM:618761
Acrootoocular Syndrome	Low-set ears, Atresia of the external auditory canal, Abnormal earlobe morphology, Sensorineural ...	ORPHA:2980
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Sensorineur...	ORPHA:2885
Martsolf Syndrome 1	Low-set ears, Abnormal toenail morphology, Low posterior hairline, Talipes equinovarus, Epicanthu...	OMIM:212720
Camptodactyly Syndrome, Guadalajara Type 2	Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Microcephaly, Talipes equinovarus, S...	ORPHA:1326
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Braddock-Carey Syndrome 1	Small hand, Clinodactyly, Ventricular septal defect, Aortic valve prolapse, Talipes equinovarus, ...	OMIM:619980
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Microspherophakia, Ectopia lentis, Brachydactyly, Shallow anterior chamber...	OMIM:614819
Meacham Syndrome	Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Apl...	OMIM:608978
Juberg-Hayward Syndrome	Highly arched eyebrow, Toe syndactyly, Short thumb, Horseshoe kidney, Abnormal eyebrow morphology...	ORPHA:2319
Microphthalmia, Syndromic 2	Aortic valve stenosis, Hand clenching, Anophthalmia, Laterally curved eyebrow, Contracture of the...	OMIM:300166
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Arthrogryposis, Distal, Type 11	Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore...	OMIM:620019
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
Pseudoachondroplasia	Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al...	ORPHA:750
Wiedemann-Steiner Syndrome	Low-set ears, Small hand, Recurrent otitis media, Long hallux, Contracture of the distal interpha...	OMIM:605130
Endove Syndrome, Limb-Only Type	Aplasia of the distal phalanges of the toes, Cutaneous syndactyly of toes, Vesicoureteral reflux,...	OMIM:619217
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Dea...	OMIM:613153
Congenital Fibrosis Of Extraocular Muscles	Finger aplasia, Cataract, Congenital fibrosis of extraocular muscles, Abnormal pupil shape, Ptosi...	ORPHA:45358
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ...	ORPHA:1788
Teebi-Shaltout Syndrome	Aortic valve stenosis, Sparse hair, Highly arched eyebrow, Low-set ears, Caudal appendage, Hypopl...	OMIM:272950
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Slender finger, Conductive hearing impairment, Atresia of the external auditory can...	OMIM:610536
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hyporeflexia of lower limbs, Pes cavus, Hip contracture, Knee flexion contracture, Distal lower l...	OMIM:615290
Monosomy 18P	Alopecia, Abnormal antihelix morphology, Low posterior hairline, Epicanthus, Protruding ear, Ptos...	ORPHA:1598
Hyperekplexia 4	Cerebral atrophy, Umbilical hernia, Talipes equinovarus, Adducted thumb, Camptodactyly	OMIM:618011
Microcephaly 6, Primary, Autosomal Recessive	Microtia	OMIM:608393
Edinburgh Malformation Syndrome	Slender finger, Ulnar deviation of finger, Choanal atresia, Anteverted nares, Hydrocephalus, Long...	ORPHA:1895
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydac...	OMIM:119800
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma, Lacrimal duct atresia	ORPHA:139450
Frontal Encephalocele	Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification, Calvarial skull defect, Enceph...	ORPHA:1931
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aorta morphology, Tetralogy...	ORPHA:99050
2Q31.1 Microdeletion Syndrome	Low-set ears, Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal hair morphol...	ORPHA:251014
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Hearing impairment, Camptodactyly of finger, Death in childhood, Microphthalm...	OMIM:610756
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Abnormality of the hairline, Sparse eyelashes, Arachnodactyly, Microtia	ORPHA:370079
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Ventriculomegaly, Chorioretinal coloboma, Underdeveloped nasal alae...	ORPHA:2031
Heterotaxy, Visceral, 6, Autosomal	Transposition of the great arteries, Total anomalous pulmonary venous return, Right aortic arch, ...	OMIM:614779
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Horizontal eyebrow, Hearing impairment, Umbilical hernia, Overlapping toe, Long eyelashes, Broad ...	OMIM:620475
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus, Brachycephaly, Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Complete atrioventricular c...	OMIM:617925
Xq27.3Q28 Duplication Syndrome	Small hand, Short foot, Sparse body hair	ORPHA:261483
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal guttata, Corneal degeneration, Corneal dystrophy	OMIM:610158
Urban-Rogers-Meyer Syndrome	Aplasia/Hypoplasia of the earlobes, Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaph...	ORPHA:3409
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Recurrent otitis media, Epicanthus, Macrotia, Downslanted palpe...	OMIM:616462
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Enuresis	ORPHA:289483
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Reduced cerebral white matter volume, Hypoplasia of the brainstem, Secondary microcephaly, Hypopl...	OMIM:618174
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Cofs Syndrome	Camptodactyly of finger, Abnormality of retinal pigmentation, Death in infancy, Sensorineural hea...	ORPHA:1466
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Talipes equinovarus, Hip dislo...	OMIM:616756
Juvenile Glaucoma	Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art...	ORPHA:98977
Oculofaciocardiodental Syndrome	Highly arched eyebrow, Peripheral pulmonary artery stenosis, Short thumb, Hearing impairment, Gen...	ORPHA:2712
Whistling Face Syndrome, Recessive Form	Ulnar deviation of finger, Shoulder flexion contracture, Underdeveloped nasal alae, Elbow flexion...	OMIM:277720
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor...	ORPHA:950
Arthrogryposis, Distal, Type 4	Depressed nasal bridge, Camptodactyly of 2nd-5th fingers, Equinovarus deformity, Deviation of the...	OMIM:609128
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hearing impairment, Hypoplastic iliac win...	OMIM:609945
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Low-set ears, Horizontal eyebrow, Clinodactyly, Hearing impairment, Umbilical hernia, Bilateral m...	ORPHA:369891
Al-Raqad Syndrome	Low-set ears, Hypopigmentation of the skin, Sandal gap, Atrial septal defect, Brachydactyly	OMIM:616459
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Downslanted palpebral fissures, Astigma...	OMIM:152950
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Cataract, Rhizomelia, Renal hypoplasia, Short iliac bones, Acetabular spurs, Stage 5 chronic kidn...	OMIM:614376
Mietens Syndrome	Cataract, Microcornea, Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, El...	ORPHA:2557
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Distal lower limb muscle we...	OMIM:600175
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus	ORPHA:1455
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Displacement of the urethral mea...	ORPHA:1556
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Ventriculomegaly, Micromelia, Frontal bossing, Redundant skin, Encephaloc...	ORPHA:93274
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Finger syndactyly, Camptodactyly of finger, Downslanted palpebra...	ORPHA:284160
Myhre Syndrome	Aortic valve stenosis, Low-set ears, Clinodactyly, Hearing impairment, Hypoplastic iliac wing, Ov...	OMIM:139210
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Atresia of the external auditory canal, Bilateral ...	ORPHA:199
Meier-Gorlin Syndrome 8	Low-set ears, Microtia	OMIM:617564
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal...	OMIM:613270
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Hypoplasia of the corpus callosum, Microcephaly, Hip dysplasia, Short nose	OMIM:618379
Waardenburg-Shah Syndrome	Hearing impairment, Premature graying of hair, Abnormal eyebrow morphology, Telecanthus, White fo...	ORPHA:897
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta...	OMIM:616468
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Epicanthus, Hand ...	OMIM:258860
Achondroplasia	Depressed nasal bridge, Rhizomelia, Hip joint hypermobility, Anteverted nares, Limited elbow exte...	ORPHA:15
Multiple Synostoses Syndrome 1	Bilateral conductive hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Proximal...	OMIM:186500
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Hirsutism, Simple ear, Unilateral ptosis	OMIM:619318
Non-Distal Duplication 10Q	Depressed nasal bridge, Microcephaly, Brachycephaly, Convex nasal ridge, Frontal bossing, Short nose	ORPHA:1695
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Downslanted palpebral fissures, Upslanted palpebral f...	OMIM:615761
Gand Syndrome	Long toe, Sparse hair, Long fingers	OMIM:615074
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Low-set ears, Clinodactyly, Small nail, Recurrent otitis media, Short proximal pha...	ORPHA:261323
Intestinal Botulism	Mydriasis, Ptosis	ORPHA:178481
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Nail dystrophy, Ventricular septal defect, Pulmonary artery stenosis, Atri...	ORPHA:75389
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Low-set ears, Hypoplastic left heart, Tetralogy of Fallot, Ventricular sep...	OMIM:220210
Joubert Syndrome 22	Renal hypoplasia, Temporal cortical atrophy, Postaxial foot polydactyly, Hypoplasia of the corpus...	OMIM:615665
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Abnormal heart morphology, Limited elbow extension and supination, Ventricular septa...	ORPHA:401935
Kury-Isidor Syndrome	Exudative vitreoretinopathy, Finger syndactyly, Downslanted palpebral fissures, Astigmatism, Hydr...	OMIM:619762
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Low-set ears, Thick eyebrow, Single transverse palmar crease, Microtia	OMIM:620535
Curry-Jones Syndrome	Iris coloboma, Ventriculomegaly, Broad thumb, Unicoronal synostosis, Polymicrogyria, Preaxial han...	OMIM:601707
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Atresia of the external auditory canal, Auricular tag...	ORPHA:672
Ohdo Syndrome, X-Linked	Low-set ears, Sparse eyebrow, High anterior hairline, Short thumb, Clinodactyly, Hearing impairme...	OMIM:300895
Ciliary Dyskinesia, Primary, 37	Right aortic arch	OMIM:617577
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Clinodactyly, Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Talipes equinovarus,...	ORPHA:85279
Shashi-Pena Syndrome	Unilateral renal agenesis, Highly arched eyebrow, Long eyelashes, Epicanthus, Ptosis, Synophrys	OMIM:617190
Toxin-Mediated Infectious Botulism	Mydriasis, Ptosis	ORPHA:230800
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Increased CSF lactate, Talipes equinovarus	OMIM:613710
Rubinstein-Taybi Syndrome	Low-set ears, Nasolacrimal duct obstruction, Clubbing of toes, Broad thumb, Highly arched eyebrow...	ORPHA:783
Cerebrooculofacioskeletal Syndrome 4	Low-set ears, Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contra...	OMIM:610758
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Cupped ear, Abnormal heart morphology, Sensorineural hea...	ORPHA:314588
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Turricephaly, Brachycephaly, Abnormal metacarpal morphology, Aplasia/Hypoplasia ...	ORPHA:93262
Acrocallosal Syndrome	Congenital diaphragmatic hernia, Inguinal hernia	ORPHA:36
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Low-set ears, Macrotia, Thin eyebrow, Single transverse palmar crease, Low posterior...	OMIM:619320
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Talipes equinovarus	OMIM:208100
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of toes, Macrotia, Recurrent otitis media, Tetralogy of Fallot, Single transverse palmar...	ORPHA:3304
Joubert Syndrome With Oculorenal Defect	Nephropathy, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Aplasia/Hypoplasia of the corp...	ORPHA:2318
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Renal hypoplasia, Hypoplastic scapulae, Micromelia, Polydactyly, ...	OMIM:614091
Fanconi Anemia, Complementation Group J	Multiple cafe-au-lait spots, Short thumb, Microphthalmia	OMIM:609054
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal guttata, Corneal stromal edema, Corneal opacity	OMIM:613267
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Toe syndactyly, Broad thumb, Frontal bossing, Bulbous nose, Clinodactyly of th...	ORPHA:250989
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Optic atrophy, Proximal tubulopathy, Hyperechogenic kidneys, Postaxial...	OMIM:614576
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty...	ORPHA:79133
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Maxillonasal Dysplasia	Depressed nasal bridge, Short distal phalanx of finger, Depressed nasal ridge, Striae distensae, ...	ORPHA:1248
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Toe syndactyly, Finger syndactyly, Sparse lateral eyebrow, Downs...	ORPHA:3253
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly	OMIM:605231
Multiple Epiphyseal Dysplasia Type 4	Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Broad foot...	ORPHA:93307
Mosaic Trisomy 1	Low-set ears, Hand clenching, Toe syndactyly, Small nail, Broad 2nd toe, Ventricular septal defec...	ORPHA:1692
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Atrial septal defect, Death in childhood, Ventricular septal de...	OMIM:253300
Pfeiffer Syndrome Type 2	Deviation of the thumb, Choanal atresia, Small hand, Toe syndactyly, Broad thumb, Finger syndacty...	ORPHA:93259
Corpus Callosum, Partial Agenesis Of, X-Linked	Inferior cerebellar vermis hypoplasia, Ventriculomegaly, Dislocated radial head, Hypoplasia of th...	OMIM:304100
Pseudodiastrophic Dysplasia	Rhizomelia, Elbow dislocation, Anteverted nares, Talipes equinovarus, Phalangeal dislocation, Bra...	OMIM:264180
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, Sensorineural hearing impairment, White eyebrow, ...	OMIM:227010
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Hypoplastic ischia, Hypospadias, Polydactyly	OMIM:616910
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Short nose	ORPHA:261120
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Low-set ears, Prominent fingertip pads, Large earlobe, Abnormal heart morpholog...	ORPHA:485405
Bardet-Biedl Syndrome 19	Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Renal insufficiency, Hy...	OMIM:615996
Squalene Synthase Deficiency	Low-set ears, Slender long bone, Elbow flexion contracture, Abnormality of hair pigmentation, 2-3...	OMIM:618156
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Overlapping toe,...	ORPHA:363444
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Spastic Paraplegia 55, Autosomal Recessive	Talipes equinovarus, Hypoplasia of the corpus callosum	OMIM:615035
Acromelic Frontonasal Dysostosis	Short tibia, Tubulonodular pericallosal lipoma, Encephalocele, Hypoplasia of the corpus callosum,...	OMIM:603671
X-Linked Dominant Chondrodysplasia Punctata	Low-set ears, Sparse eyebrow, Abnormality of the nail, Coarse hair, Downslanted palpebral fissure...	ORPHA:35173
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Lacrim...	OMIM:113650
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis	OMIM:618504
Neurooculorenal Syndrome	Unilateral renal agenesis, Highly arched eyebrow, Hypoplasia of the bladder, Short 1st metacarpal...	OMIM:620305
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Abnormal optic disc morphology, Comp...	ORPHA:363417
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Nephroblastoma, Epicanthu...	OMIM:610832
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Highly arched eyebrow, Tibial torsion, Overlapping toe, Vesicoureteral reflux, 2-3 toe syndactyly...	OMIM:618653
Phosphoribosylaminoimidazole Carboxylase Deficiency	Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de...	OMIM:619859
Craniotelencephalic Dysplasia	Frontal bossing, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus,...	ORPHA:1528
Atypical Teratoid Rhabdoid Tumor	Cerebral calcification, Hydrocephalus	ORPHA:99966
Recombinant Chromosome 8 Syndrome	Low-set ears, Joint contracture of the hand, Hearing impairment, Tetralogy of Fallot, Ventricular...	OMIM:179613
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Charcot-Marie-Tooth Disease Type 1E	Joint contracture of the hand, Hyporeflexia of upper limbs, Hand muscle weakness, Abnormal pupil ...	ORPHA:90658
Chromosome 15Q14 Deletion Syndrome	Low-set ears, Highly arched eyebrow, Recurrent viral upper respiratory tract infections, Ventricu...	OMIM:616898
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Hematuria, Retinal detachment, Microphthalm...	OMIM:120330
Goldberg-Shprintzen Megacolon Syndrome	Iris coloboma, Sparse eyebrow, Finger syndactyly, Ptosis, Hypospadias	ORPHA:66629
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor...	ORPHA:2831
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Low-set ears, Slender finger, Highly arched eyebrow, Broad thumb, Umbilical hernia, Long eyelashe...	ORPHA:329224
Ring Chromosome 13 Syndrome	Wide nasal bridge, Depressed nasal bridge, Frontal bossing, Aplasia/hypoplasia involving bones of...	ORPHA:96176
3C Syndrome	Wide nasal bridge, Iris coloboma, Depressed nasal bridge, Ventriculomegaly, Finger syndactyly, Ch...	ORPHA:7
Isolated Anencephaly	Congenital diaphragmatic hernia, Omphalocele	ORPHA:563609
Meier-Gorlin Syndrome 7	Low-set ears, Second degree atrioventricular block, Hearing impairment, Preaxial hand polydactyly...	OMIM:617063
Trisomy 4P	Depressed nasal bridge, Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Mic...	ORPHA:1738
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair,...	OMIM:618625
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta, Facial palsy	OMIM:107550
Seckel Syndrome 7	Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Short middle phalanx of the 5t...	OMIM:614851
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Cerebellar vermis hypoplasia, Abnormal cerebral cortex morphology, Ventriculomegaly, Chorioretina...	ORPHA:163961
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Hypospadias, Multicystic kidney dysplasia, Unilateral renal agenesis, Keratitis, Renal agenesis, ...	OMIM:308205
Thanatophoric Dysplasia	Abnormal ilium morphology, Depressed nasal bridge, Ventriculomegaly, Micromelia, Frontal bossing,...	ORPHA:2655
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypoplasia of the fovea, Hypopigmentation of hair, Hypopigmentatio...	OMIM:619165
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Achondrogenesis Type 1B	Micromelia, Umbilical hernia, Anteverted nares, Talipes equinovarus, Short foot, Frontal bossing,...	ORPHA:93298
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Depressed nasal bridge, Elevated urinary 3-hydro...	OMIM:614105
Pseudodiastrophic Dysplasia	Talipes equinovarus, Rhizomelia, Phalangeal dislocation, Elbow dislocation	ORPHA:85174
Macrophthalmia, Colobomatous, With Microcornea	Microcornea, Chorioretinal coloboma, Optic disc coloboma, Macular atrophy, Flat cornea, Shallow a...	OMIM:602499
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Hearing impairment, Genu valgu...	OMIM:143095
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Preaxial hand polydactyly, Penile freckling, Foot polydactyly, Frontal bo...	ORPHA:210548
Pontocerebellar Hypoplasia, Type 1A	Cerebral cortical atrophy, Neuronal loss in basal ganglia, Hypoplasia of the pons, Lateral ventri...	OMIM:607596
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Abnormally large globe, Knee flexion contracture, Vascular ring, Skeletal muscle atrophy	OMIM:603387
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Low-set ears, Sparse eyebrow, Single transverse palmar crease, Sensorineural hearing impairment, ...	OMIM:620075
Craniofacial-Deafness-Hand Syndrome	Depressed nasal ridge, Ulnar deviation of finger, Depressed nasal bridge, Aplasia/Hypoplasia invo...	ORPHA:1529
Noonan Syndrome 13	Low-set ears, Clinodactyly, Recurrent otitis media, Overlapping toe, Mitral regurgitation, Mitral...	OMIM:619087
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Downslanted palpebral fissures, Aplasia of the proximal phalanges of the hand,...	ORPHA:2256
Hidrotic Ectodermal Dysplasia, Halal Type	Hearing impairment, Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnor...	ORPHA:1809
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Small nail, Fibular aplasia, Malaligned c...	OMIM:228900
Holoprosencephaly	Highly arched eyebrow, Spinal dysraphism, Tetralogy of Fallot, Thick eyebrow, Branchial anomaly, ...	ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Calf muscle hypertrophy, Microphthalmia, Macroglossia, Flexion contracture, F...	OMIM:613155
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal guttata, Corneal dystrophy	OMIM:613268
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Sparse lateral e...	ORPHA:217346
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Wide nasal bridge, Depressed nasal bridge, Clinodactyly, Genu valgum, Hypop...	OMIM:607131
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic...	OMIM:217300
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the pons, Hypoplasia of the brainstem, Death in infancy, Agenesis of corpus callosu...	OMIM:619301
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Coarse metaphyseal trabecularization, Anteverted nares, Death in childhoo...	OMIM:618961
Fliedner-Zweier Syndrome	Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Epicanthus	OMIM:620511
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Encephalocele, Neonatal death, Talipes, Talipe...	OMIM:108720
Joubert Syndrome 14	Low-set ears, Highly arched eyebrow, Encephalocele, Ventricular septal defect, Postaxial polydact...	OMIM:614424
Diastrophic Dysplasia	Ulnar deviation of finger, Short finger, Irregular epiphyses, Genu valgum, Hip contracture, Talip...	OMIM:222600
Spastic Paraplegia 50, Autosomal Recessive	Ventriculomegaly, Bulbous nose, Hypoplasia of the corpus callosum, Wide nasal ridge, Microcephaly...	OMIM:612936
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Renal hypoplasia, Brachydactyly	OMIM:600151
Aortic Aneurysm, Familial Thoracic 6	Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti...	OMIM:611788
Polysyndactyly With Cardiac Malformation	Small nail, Preaxial hand polydactyly, Ventricular septal defect, Duplication of phalanx of hallu...	OMIM:263630
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:244200
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Low-set ears, Highly arched eyebrow, Broad distal phalanx of finger, Postaxial foot polydactyly, ...	ORPHA:404440
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Ventriculomegaly, Underdeveloped nasal alae, Camptodactyly of finger, Prominent nasal bridge, Bil...	ORPHA:2083
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Noonan Syndrome 11	Low-set ears, Hypertrophic cardiomyopathy, Palmoplantar cutis laxa, Atrial septal defect, Bilater...	OMIM:618499
Tetraploidy	Radial club hand, Hypoplasia of the ear cartilage, Aplasia/Hypoplasia of the lungs, Aplasia/Hypop...	ORPHA:3305
Muenke Syndrome	Cone-shaped epiphysis, Hypopigmented skin patches, Hypermelanotic macule, Carpal synostosis, Sens...	ORPHA:53271
Noonan Syndrome 5	Low-set ears, Sparse eyebrow, Small nail, Fine hair, Hypertrophic cardiomyopathy, Multiple lentig...	OMIM:611553
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Cataract, Anterior lenticonus, Nephritis, Glomerular base...	OMIM:203780
Cockayne Syndrome	Lentiglobus, Microphthalmia, Urinary incontinence, Nephrotic syndrome, Optic disc pallor, Corneal...	ORPHA:191
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Lateral ventricle dilatation, Hypoplast...	OMIM:277590
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Upslanted palpebral fissure, Hirsutism, Narrow palpebral fissure, Anteverted ears, ...	OMIM:618087
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of retinal pigmentation, Abnormality of the hand, Brachydactyly...	ORPHA:1264
Inhalational Botulism	Mydriasis, Ptosis, Urinary retention	ORPHA:254504
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Coloboma, Hydrocephalus	ORPHA:324416
Spinocerebellar Ataxia, Autosomal Recessive 20	Wide nasal base, Cerebral cortical atrophy, Clinodactyly, Delayed eruption of teeth, Oligosacchar...	OMIM:616354
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Genu valgum, Narrow palm, Arachnodactyly, ...	ORPHA:193
Developmental And Epileptic Encephalopathy 91	Reduced cerebral white matter volume, Cerebral atrophy, Single transverse palmar crease, Talipes ...	OMIM:617711
Kapur-Toriello Syndrome	Low-set ears, Joint contracture of the hand, Conductive hearing impairment, Short thumb, Camptoda...	OMIM:244300
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypoplasia of the fovea, Blue irides...	OMIM:203200
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Wide nasal bridge, Ventriculomegaly, Broad thumb, Flat occiput, Overlapping toe, Prominent nasal ...	OMIM:617452
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Sparse eyebrow, Cone-shaped epiphysis, Camptodactyly of finger, S...	ORPHA:77258
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Baraitser-Winter Syndrome 1	Wide nasal bridge, Ventriculomegaly, Chorioretinal coloboma, Trigonocephaly, Anteverted nares, Ag...	OMIM:243310
Mehmo Syndrome	Microcephaly, Talipes equinovarus, Micropenis, Hypoplasia of penis, Tapered finger	ORPHA:85282
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Patent ductus arteriosus	ORPHA:228190
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Low-set ears, Sparse eyebrow, Cutaneous syndactyly of toes, Dry hair, Cutaneous finger syndactyly...	OMIM:225060
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short distal phalanx of finger, Short columella, Short nose	OMIM:155050
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Optic...	OMIM:169550
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Mesoaxial hand polydactyly, Stage 5 chronic kidney disease, Polydacty...	OMIM:615994
Cerebrocostomandibular Syndrome	Hydranencephaly, Multicystic kidney dysplasia, Myelomeningocele, Cerebral calcification, Death in...	ORPHA:1393
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Hearing impairment, Fine hair, Long eyelashes, Tapered finger, Microtia, Macrotia, Synophrys	OMIM:620250
Glycine Encephalopathy With Normal Serum Glycine	Genu recurvatum, Hand clenching, Depressed nasal bridge, Ventriculomegaly, Elbow flexion contract...	OMIM:617301
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Cataract, Aortic regurgitation, Hypospadias, Dilatation of the renal pelvi...	ORPHA:268261
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Cupped ear, Finger syndactyly, Hearing impairment, Atresia of the external audito...	ORPHA:264200
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Sensorineural hearing ...	ORPHA:1883
Joubert Syndrome 37	Low-set ears, Postaxial polydactyly, Ptosis, Microphthalmia, Sparse hair, Posteriorly rotated ears	OMIM:619185
Carpenter Syndrome 2	Broad thumb, Narrow naris, Cutaneous finger syndactyly, Talipes equinovarus, Oxycephaly, Trigonoc...	OMIM:614976
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cerebellar vermis hypoplasia, Depressed nasal bridge, Ankle flexion contracture, Lateral ventricl...	ORPHA:284417
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Petechiae, Ulnar bowing, Limited prona...	OMIM:605432
Joubert Syndrome 7	Nephronophthisis, Stage 5 chronic kidney disease, Genu valgum, Postaxial polydactyly, Renal cyst,...	OMIM:611560
Acromesomelic Dysplasia 4	Low-set ears, Radial bowing, Prominent deltoid tuberosities, Genu valgum, Generalized hirsutism, ...	OMIM:619636
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Wide nasal bridge, Cerebral atrophy, Umbilical hernia, Elbow flexion contracture, Enlarged naris,...	OMIM:616266
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Pontocerebellar Hypoplasia, Type 15	Hypoplasia of the brainstem, Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia...	OMIM:619302
Short Stature And Facioauriculothoracic Malformations	Low-set ears, Cupped ear, Ventricular septal defect, Overfolded helix, Microtia	OMIM:609654
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Bilateral conductive hearing impairment, Clinodactyly, Branchial cyst, Small nail, ...	OMIM:620186
Cerebrooculonasal Syndrome	Low-set ears, Sparse eyebrow, Conductive hearing impairment, Encephalocele, Anophthalmia, Sparse ...	OMIM:605627
Oliver-Mcfarlane Syndrome	Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Long eyebrows, Sparse hair	OMIM:275400
Aredyld	Generalized hypotrichosis, Abnormality of the ear	OMIM:207780
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Short femoral neck, Pes cavus, Short humerus, Microcephaly, Talipes equinova...	OMIM:616716
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Broad hallux, Downslanted palpebral fissures, Radioulnar synostosis, Hypoplasia...	OMIM:212780
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Diffuse white matter abnormalities, Ventriculomegaly, Increased CSF protein co...	OMIM:218000
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Short palpebral fissure, Pigmentary retinopathy, Downslanted palpebral fissures, Epican...	OMIM:614230
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Ventricular septal defect, Small thenar eminence, Atrial septal defect, Hip disloca...	OMIM:613458
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Aplasia/Hypoplasia of the nails, Bulbous tips of toes, Ventri...	ORPHA:163979
Helsmoortel-Van Der Aa Syndrome	Small hand, Genu valgum, Mitral regurgitation, Epicanthus, Narrow palpebral fissure, Short palpeb...	OMIM:615873
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Walker-Warburg Syndrome	Low-set ears, Metatarsus valgus, Anophthalmia, Protruding ear, Hydrocephalus, Microphthalmia, Pos...	ORPHA:899
Lissencephaly 5	Leukoencephalopathy, Cerebellar vermis hypoplasia, Occipital encephalocele, Hypoplasia of the bra...	OMIM:615191
3P25.3 Microdeletion Syndrome	Abnormality of the outer ear, Broad thumb, Broad hallux, Downslanted palpebral fissures, Overlapp...	ORPHA:435638
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Hypospadias	OMIM:615985
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Microtia	OMIM:618158
Arthrogryposis, Distal, Type 2B1	Wide nasal bridge, Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of the hand or of...	OMIM:601680
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Short 1st metacarpal, Downslanted palpebral fissures, Short first metatars...	OMIM:619135
Pde4D Haploinsufficiency Syndrome	Broad foot, Prominent nasal tip, Pes planus, Broad phalanx, Bilateral coxa valga, Hypospadias, Sh...	ORPHA:439822
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Depressed nasal bridge, Ventriculomegaly, Micromelia, Frontal bossing, Femoral ...	ORPHA:1860
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Wide nasal bridge, Small hand, Plagiocephaly, Frontal bossing, Elbow flexion contracture, Enlarge...	ORPHA:371364
C Syndrome	Wide nasal bridge, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinoda...	OMIM:211750
Pfeiffer Syndrome Type 3	Choanal atresia, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Brachyturricephaly, ...	ORPHA:93260
Freeman-Sheldon Syndrome	Wide nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Underdeveloped nasal alae, C...	ORPHA:2053
Fetal Trimethadione Syndrome	Low-set ears, Abnormal helix morphology, Tetralogy of Fallot, Bilateral single transverse palmar ...	ORPHA:1913
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Hypospadias, Short nose	ORPHA:1355
Skin Creases, Congenital Symmetric Circumferential, 1	Low-set ears, Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Hypoplastic nippl...	OMIM:156610
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Wide nasal bridge, Ventriculomegaly, Cone-shaped epiphysis, Short toe, Cerebral atrophy, Short fi...	OMIM:618659
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Ventriculomegaly, Toe syndactyly, Finger syndactyly, Polymicrogyria, Hand...	ORPHA:60040
Wolf-Hirschhorn Syndrome	Hypospadias, Pseudoepiphyses of the metacarpals, Highly arched eyebrow, Short thumb, Preaxial han...	OMIM:194190
Laurence-Moon Syndrome	Micropenis, Abnormality of the hand, Polydactyly	OMIM:245800
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormality of the pulmonary veins, Abnormal cardiac ventricle morphology,...	ORPHA:2306
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Microtia, first degree, Prominent fingertip pads, Cli...	OMIM:305450
Cardiofaciocutaneous Syndrome 4	Multiple lentigines, Alopecia of scalp, Abnormal aortic valve morphology, Sparse eyelashes, Ventr...	OMIM:615280
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Ventricular septal defect, Atria...	OMIM:190685
Skraban-Deardorff Syndrome	Right aortic arch	OMIM:617616
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Recurrent pneumonia, Single transverse palmar crease, Ventricular septal defect, 2-...	OMIM:616449
Microphthalmia/Coloboma 12	Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral ...	OMIM:120200
Autosomal Recessive Spastic Paraplegia Type 66	Cerebellar hypoplasia, Talipes equinovarus, Colpocephaly, Hypoplasia of the corpus callosum	ORPHA:401815
Parenti-Mignot Neurodevelopmental Syndrome	Low-set ears, Cupped ear, Synophrys, Posteriorly rotated ears, Microtia	OMIM:619873
Kbg Syndrome	Bilateral conductive hearing impairment, Finger clinodactyly, Telecanthus, Thick eyebrow, Single ...	ORPHA:2332
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Broad femoral neck, Irregular epiphyses, A...	OMIM:132400
Albinism, Oculocutaneous, Type V	Albinism, Hypoplasia of the fovea	OMIM:615312
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Low-set ears, Short distal phalanx of finger, Sparse eyebrow, High anterior hairline, Small nail,...	OMIM:250410
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Cataract, Increased carrying angle, Telecanthus, Renal insufficiency, Ptosis, Brachy...	OMIM:247410
Isotretinoin Syndrome	Spina bifida occulta, Abnormality of the outer ear, Hypoplastic toenails, Microtia	ORPHA:2305
Orofaciodigital Syndrome Ii	Bifid nasal tip, Depressed nasal bridge, Postaxial foot polydactyly, Broad nasal tip, Flared meta...	OMIM:252100
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormality of carpal bone ossification, Genu valgum, Sensorineural hearing impairment, Cubitus v...	OMIM:608154
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femoral nec...	OMIM:611209
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Rhizomelia, Elbow dislocation, Micromelia, Frontal bossing, Short nose, A...	ORPHA:93329
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ankle flexion contracture, Internally rotated shoulders, Elbow flexion contracture, Hip contractu...	OMIM:617468
Meier-Gorlin Syndrome 1	Low-set ears, Joint contracture of the hand, Small hand, Elbow dislocation, Hearing impairment, A...	OMIM:224690
Chromosome 6Q24-Q25 Deletion Syndrome	Low-set ears, Small hand, Cupped ear, Prominent fingertip pads, Sandal gap, Tricuspid regurgitati...	OMIM:612863
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Abnormal epiphysis morphology...	ORPHA:3098
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Elbow flexion contracture, Periventricular white matter hyperintensities, Microcephaly, Hydroceph...	OMIM:619470
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Occipital encephalocele, Micromelia, Calvarial skull defect, Neonatal death, B...	OMIM:224410
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Reduced cerebral white matter volume, Depressed nasal...	OMIM:616638
Blepharophimosis-Impaired Intellectual Development Syndrome	Wide nasal bridge, Short distal phalanx of finger, Enuresis, Plagiocephaly, Hypoplasia of the pon...	OMIM:619293
Schilbach-Rott Syndrome	2-3 toe cutaneous syndactyly, Clinodactyly, Posteriorly rotated ears, 3-4 finger cutaneous syndac...	OMIM:164220
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-like episode, Right aortic...	OMIM:300845
Ferguson-Bonni Neurodevelopmental Syndrome	Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia	OMIM:619699
Noonan Syndrome 8	Low-set ears, Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Ventricular se...	OMIM:615355
Phaver Syndrome	Low-set ears, Aplasia/Hypoplasia of the earlobes, Ulnar deviation of finger, Broad thumb, Conduct...	ORPHA:2876
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Highly arched eyebrow, Joint contracture of the hand, Umbilical hernia, Abnormal he...	ORPHA:352490
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Brachyturricephaly, Prominent nose, Pe...	OMIM:300280
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Depressed nasal bridge, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydac...	OMIM:615503
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Talipes equinovarus, Proximal muscle weakness in upper limbs, Knee flexion contracture, Upper lim...	ORPHA:496689
Stevenson-Carey Syndrome	Low-set ears, Joint contracture of the hand, Downslanted palpebral fissures, Microphthalmia, Camp...	OMIM:611961
Rahman Syndrome	Ventriculomegaly, Redundant skin, Talipes equinovarus, Camptodactyly, Thin corpus callosum	OMIM:617537
Brittle Cornea Syndrome 1	Congenital hip dislocation, Keratoconus, Abnormal cornea morphology, Palmoplantar cutis laxa, Epi...	OMIM:229200
Intellectual Developmental Disorder, Autosomal Dominant 51	Wide nasal base, Wide nasal bridge, Ventriculomegaly, Long foot, Talipes equinovarus, Long toe, L...	OMIM:617788
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Clinodactyly, Lateral ventricle dilatation, Pes planus, Hi...	ORPHA:96148
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Cupped ear, Atrial septal defect, Death in infancy	ORPHA:93946
Focal Facial Dermal Dysplasia Type Ii	Low-set ears, Trichiasis, Sparse eyebrow, Lop ear, Distichiasis, Abnormal pinna morphology, Ectro...	ORPHA:398173
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Acrocardiofacial Syndrome	Low-set ears, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Lo...	ORPHA:2008
Cerebrooculofacioskeletal Syndrome 1	Recurrent pneumonia, Joint contracture of the hand, Elbow flexion contracture, Death in childhood...	OMIM:214150
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Cerebellar vermis hypoplasia, Extra-axial cerebrospinal fluid accumulation, Pl...	OMIM:619383
Schizophrenia 1	Ectopic kidney, Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Camptodactyly of finger, Megalocornea, Congestive heart failure, D...	ORPHA:915
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Depressed nasal bridge, Hemiatrophy of upper limb, Oligosacchariduria, Frontal bo...	ORPHA:163649
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Nephrocalcinosis, Brachydactyly, Short long bone	OMIM:615633
Hadziselimovic Syndrome	Low-set ears, Ventricular hypertrophy, Tetralogy of Fallot, Low anterior hairline, Ventricular se...	OMIM:612946
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Congenital sensorineural hearing impairment, Shallow orbits, Generalized hypopigmentation, Microp...	OMIM:617306
Faundes-Banka Syndrome	Low-set ears, Cupped ear, Conductive hearing impairment, Downslanted palpebral fissures, Long ear...	OMIM:619376
Menkes Disease	Alopecia, Hypopigmentation of the skin, Metaphyseal spurs, Death in childhood, Metaphyseal wideni...	OMIM:309400
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricular septal defect, ...	OMIM:614262
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Hear...	ORPHA:894
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Anteverted nares, Prominent nasal bridge, Microcephaly, Hydrocephalus, ...	OMIM:300558
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Low-set ears, Alopecia, Fine hair, Hypogonadism, Telecanthus, Upslanted palpebral fissure, Microp...	ORPHA:228390
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Absent patellar reflexes, Hand muscle weakness, Abnormal foot morphology, Absent Achilles reflex,...	ORPHA:99947
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hearing impairment, Anophthalmia, Ventricular septal defect, Hydrocephalus, Microphthalmia, Holop...	ORPHA:77298
Foodborne Botulism	Mydriasis, Ptosis, Urinary retention, Arrhythmia	ORPHA:228371
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ...	OMIM:268310
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, S-shaped palpebral fissures, Small nail, Long eyelas...	OMIM:201180
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Rhizomelia, Patellar dislocation, Short 1st metacarpal, Elbow dislocation...	ORPHA:93328
Meckel Syndrome 14	Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Tricuspid regurgitation, Mitra...	OMIM:619879
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Conductive hearing impairment, Small nail, Atresia of the external...	OMIM:608257
Myoectodermal Gonadal Dysgenesis Syndrome	Bifid distal phalanx of toe, Unilateral renal agenesis, Sparse eyebrow, Highly arched eyebrow, Hy...	OMIM:618419
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Chromosome 1P36 Deletion Syndrome, Proximal	Low-set ears, Dilated cardiomyopathy, Clinodactyly, Biventricular hypertrophy, Coronary artery fi...	OMIM:619343
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Hypoplasia of the corpus callosum, Carpal bone hypoplasia, Pes plan...	ORPHA:457395
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Recon Progeroid Syndrome	Hyperconvex thumb nails, Long thumb, Hirsutism, Arachnodactyly, Attached earlobe, Proximal placem...	OMIM:620370
Naxos Disease	Sparse body hair, Diffuse palmoplantar hyperkeratosis, Premature ventricular contraction, Arrhyth...	OMIM:601214
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Alopecia, Abnormal epiphysis morphology, Sparse body hair, Epiphyseal stippling, Limb...	ORPHA:177
Microcephaly-Capillary Malformation Syndrome	Low-set ears, Short distal phalanx of finger, Abnormal hair whorl, Small nail, Clinodactyly, Hear...	OMIM:614261
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Toe clinodactyly, Low-set ears, Conductive hearing impairment, Finger synda...	ORPHA:254346
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Low-set ears, Broad distal phalanx of finger, Broad thumb, Hearing impairment, Patchy alopecia, P...	OMIM:617763
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Branchial fistula, Cupped ear, Sensorineural hea...	OMIM:602588
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Epicanthus, Duplicated collecting system, Ventricula...	OMIM:270400
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, Arachnodactyly, Adducted thumb, Hydrocephalus, Shoulder dislocation, Frontal bo...	ORPHA:2181
Amyloidosis, Finnish Type	Cataract, Cardiomyopathy, Stage 5 chronic kidney disease, Decreased heart rate variability, Renal...	OMIM:105120
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia	ORPHA:2143
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Bulbous nose, Simplified gyral pattern, Prominent nasal bridge, Vesicoure...	OMIM:618828
Ermine Phenotype	Iris hypopigmentation, Toe syndactyly, Ocular albinism, Astigmatism, Clinodactyly of the 5th finger	ORPHA:999
Xp22.13P22.2 Duplication Syndrome	Recurrent upper respiratory tract infections, Small hand, High anterior hairline, Hearing impairm...	ORPHA:284180
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Low-set ears, Clinodactyly, Metaphyseal dysplasia, Microtia, Posteriorly rotated ears, Cafe-au-la...	OMIM:618336
Meckel Syndrome, Type 3	Postaxial hand polydactyly, Multicystic kidney dysplasia, Postaxial foot polydactyly, Polydactyly	OMIM:607361
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Microphthalmia	ORPHA:1915
Lambert Syndrome	Talipes equinovarus, Hypospadias	OMIM:245550
Adult Syndrome	Alopecia, Toe syndactyly, Toenail dysplasia, Finger syndactyly, Absent nipple, Fine hair, Sparse ...	ORPHA:978
Oculodentodigital Dysplasia	Sparse hair, Dry hair, Conductive hearing impairment, Clinodactyly, Fine hair, 3-4 toe syndactyly...	OMIM:164200
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Postaxial foot polydactyly, Bicuspid aortic valve, Atrial septal defect, ...	OMIM:615981
Aase-Smith Syndrome I	Slender finger, Death in infancy, Talipes equinovarus, Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Cerebellar vermis hypoplasia, Ventriculomegaly, Reduced cerebral white matter volume, Hypoplasia ...	OMIM:617807
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Short nose	ORPHA:2015
Rothmund-Thomson Syndrome, Type 2	Small hand, Premature graying of hair, Sparse eyelashes, Absent eyelashes, Talipes equinovarus, E...	OMIM:268400
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi...	OMIM:617205
Neurodevelopmental Disorder With Spasticity And Poor Growth	Low-set ears, Large earlobe, Long eyelashes, Single transverse palmar crease, Hirsutism, Patent f...	OMIM:618076
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebral cortical atrophy, Plagiocephaly, Hypoplasia of the corpus callosum, Talipes equinovarus,...	OMIM:617481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Optic nerve hypoplasia, Encephalocele, Death in childhood, Death in infancy, Hydroc...	OMIM:614643
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair,...	ORPHA:181
Aortic Aneurysm, Familial Thoracic 4	Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po...	OMIM:132900
Spondylo-Ocular Syndrome	Iris hypopigmentation, Low-set ears, Abnormal eyebrow morphology, Abnormal antihelix morphology, ...	ORPHA:85194
Ruvalcaba Syndrome	Small hand, Micromelia, Downslanted palpebral fissures, Limited elbow extension, Short foot, Shor...	OMIM:180870
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Hypoplastic toenails, Ventricula...	OMIM:616589
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hyperpigmented/hypopigmented macules, Small hand, Large fleshy ears, Atrial septal defect, Short ...	ORPHA:280633
Diamond-Blackfan Anemia 21	Aortic regurgitation, Low-set ears, Coarse hair, Horizontal eyebrow, Short toe, Sandal gap, Preax...	OMIM:620072
Infantile Sialic Acid Storage Disease	Cerebral atrophy, Abnormal foot morphology, Anteverted nares, Death in childhood, Hydrocephalus, ...	OMIM:269920
Rothmund-Thomson Syndrome, Type 3	Short distal phalanx of finger, Depressed nasal bridge, Frontal bossing, Anteverted nares, Hypopl...	OMIM:615789
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Split hand, Aplasia/Hypoplasia of the external ear	ORPHA:168486
Microtriplication 11Q24.1	Small hand, Genu valgum, Microcephaly, Talipes equinovarus, Metatarsus adductus, Clinodactyly of ...	ORPHA:289522
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Unilateral renal agenesis, Finger syndactyly, A...	OMIM:308050
Joubert Syndrome With Renal Defect	Nephropathy, Cerebellar vermis hypoplasia, Polymicrogyria, Anteverted nares, Prominent nasal brid...	ORPHA:220497
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Plagiocephaly, Camptodactyly of finger, Type II lissencephaly, Aplasia/Hypoplas...	ORPHA:272
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Postaxial foot polydactyly, Overlapping fingers, Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:301056
Hamamy Syndrome	Low-set ears, Sparse eyebrow, Sparse lateral eyebrow, Abnormal number of hair whorls, Prolonged Q...	OMIM:611174
Isolated Arrhinia	Microtia, Eyelid coloboma, Microphthalmia	ORPHA:1134
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Clinodactyly, Bulbous nose, Anteverted nares, Single transverse palmar crease,...	OMIM:613604
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Low-set ears, Fine hair, Trichorrhexis nodosa, Tetralogy of Fallot, Avascul...	OMIM:222470
Lessel-Kreienkamp Syndrome	Hypoplastic helices, Hearing impairment, Overfolded helix, Patent foramen ovale, Bicuspid aortic ...	OMIM:619149
Truncus Arteriosus	Interrupted aortic arch, Pulmonary artery hypoplasia, Arteria lusoria, Abnormal coronary artery m...	ORPHA:3384
Miller Fisher Syndrome	Ptosis, Mydriasis, Anisocoria	ORPHA:98919
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Ventriculomegaly, Occipital encephalocele, Hypoplasia of the brains...	OMIM:615287
Chromosome 9P Deletion Syndrome	Low-set ears, Highly arched eyebrow, Prominent antihelix, Sandal gap, Fair hair, Dermatoglyphic v...	OMIM:158170
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Schopf-Schulz-Passarge Syndrome	Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nai...	OMIM:224750
Band Heterotopia	Ventriculomegaly, Plagiocephaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus...	OMIM:600348
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Thick eyebrow, Frontal upsweep of hair, Overfolded helix, Single transverse palmar cr...	OMIM:617061
Charcot-Marie-Tooth Disease, Type 4B1	Talipes equinovarus	OMIM:601382
Chromosome 3Pter-P25 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Trigonocephaly, Overlapping toe, Bulb...	OMIM:613792
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement	OMIM:276821
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Hypoplastic ilia, Micromelia, Broad long bones, Clubbing of fingers, Encephalo...	ORPHA:1865
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	High anterior hairline, Toenail dysplasia, Umbilical hernia, Hypoplastic fingernail, Fingernail d...	ORPHA:1292
Baller-Gerold Syndrome	Low-set ears, Carpal synostosis, Patellar aplasia, Limited elbow movement, Aphalangy of the hands...	OMIM:218600
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Deviation of the 2nd finger, Recurrent pneumonia, Sparse eyebrow, Finger syndactyly...	ORPHA:464738
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Microtia, Conductive hearing impairment, Atresia of the external auditory canal, Sparse eyelashes	OMIM:300946
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Low-set ears, Rhizomelia, Clinodactyly, Hearing impairment, Abnormal lung l...	OMIM:614114
Joubert Syndrome	Cerebellar vermis hypoplasia, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Antevert...	ORPHA:475
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Albinism, Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment	OMIM:300650
Acromesomelic Dysplasia 1	Acromesomelia, Redundant skin on fingers, Radial bowing, Short toe, Flared metaphysis, Long hallu...	OMIM:602875
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Progeroid Syndrome, Petty Type	Short distal phalanx of finger, Umbilical hernia, Abnormal hair morphology, Low-set, posteriorly ...	ORPHA:2963
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Abnormal lung lobation, Hydrocephalus, Aplasia/Hypoplasi...	ORPHA:3301
Skin Creases, Congenital Symmetric Circumferential, 2	Low-set ears, Short palpebral fissure, Downslanted palpebral fissures, Overfolded helix, Upslante...	OMIM:616734
8Q12 Microduplication Syndrome	Highly arched eyebrow, Ventricular septal defect, Sensorineural hearing impairment, Atrial septal...	ORPHA:228399
Charcot-Marie-Tooth Disease, Type 4B2	Ulnar claw, Pes cavus, Talipes equinovarus, Split hand, Hammertoe	OMIM:604563
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Unilateral renal agenesis, Enuresis, Horizontal eyebrow, Long eyelashes, A...	ORPHA:96121
Joubert Syndrome 23	Dysplastic corpus callosum, Coloboma, Polydactyly	OMIM:616490
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Hypertrophi...	ORPHA:1842
Roussy-Lévy Syndrome	Urinary bladder sphincter dysfunction, Pes cavus, Genu valgum, Talipes equinovarus, Intrinsic han...	ORPHA:3115
Bifid Nose With Or Without Anorectal And Renal Anomalies	Unilateral renal agenesis, Thick eyebrow, Renal agenesis	OMIM:608980
Ohdo Syndrome	Sparse eyebrow, Hearing impairment, Stenosis of the external auditory canal, Clinodactyly of the ...	OMIM:249620
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Small hand, Depressed nasal bridge, Trigonocephaly, Scaphocephaly, ...	ORPHA:459061
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Pes cavus, Primary microcephaly, Short nose	OMIM:245570
Pericardial And Diaphragmatic Defect	Tetralogy of Fallot, Congenital diaphragmatic hernia, Patent ductus arteriosus, Aplasia of the le...	ORPHA:2847
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Dilatation of the renal pelvis, Clinodactyly, Humeroradial synostosis, Arac...	ORPHA:95699
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy	OMIM:602082
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal, Atrial septal defect	OMIM:113301
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung ...	ORPHA:1765
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Ri...	OMIM:616749
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Low-set ears, Hearing impairment, Finger clinodactyly, Breast hypoplasia, Long eyelashes, Brachyd...	OMIM:601353
Loeys-Dietz Syndrome 6	Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebral artery, Umbilical hern...	OMIM:619656
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Talipes equinovarus, Joint contracture of the hand	OMIM:611067
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Talipes equinovarus, Abnormality of the knee, Bilateral talipes equinova...	ORPHA:251028
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Anisocoria, Palmoplantar hyperkeratosis, Orthostatic hypotension	OMIM:231550
Silver-Russell Syndrome 3	Low-set ears, Small hand, Melanocytic nevus, Antecubital pterygium, Clinodactyly of the 5th finge...	OMIM:616489
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hydrocephalus, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Cebalid Syndrome	Depressed nasal ridge, Depressed nasal bridge, Plagiocephaly, Platystencephaly, Polymicrogyria, A...	OMIM:618774
Li-Ghorbani-Weisz-Hubshman Syndrome	Low-set ears, Overlapping toe, Ventricular septal defect, Atrial septal defect, Clinodactyly of t...	OMIM:618974
Hennekam-Beemer Syndrome	Pneumonia, Hypotension, Irregular hyperpigmentation, Conductive hearing impairment, Hearing impai...	ORPHA:2135
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Patent ductus arteriosus	OMIM:604381
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Alport Syndrome	Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c...	ORPHA:63
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Low-set ears, Small hand, Portal hypertension, Patent foramen ovale, Pulmonary arterial hypertens...	OMIM:620005
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Low-set, posteriorly rotated ears, Bilateral single transverse palmar...	ORPHA:3191
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Inguinal hernia, Microphthalmia	ORPHA:1135
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Congenital Disorder Of Deglycosylation 2	Highly arched eyebrow, Broad thumb, Sandal gap, Hearing impairment, Ulnar deviation of the hand, ...	OMIM:619775
Microtia	Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin...	ORPHA:83463
Edinburgh Malformation Syndrome	Hydrocephalus, Death in infancy	OMIM:129850
Chromosome 17P13.1 Deletion Syndrome	Long hallux, Arachnodactyly, Short foot, Plagiocephaly, Bulbous nose, Knee flexion contracture, D...	OMIM:613776
Myopathic Ehlers-Danlos Syndrome	Ankle flexion contracture, Joint contracture of the hand, Shoulder flexion contracture, Foot join...	ORPHA:536516
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Low-set ears, Proximal femoral epiphysiolysis, Small epiphyses, Overlapping toe, Femoral bowing, ...	OMIM:616723
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Alopecia, Toe syndactyly, Small nail, Supernumerar...	OMIM:100300
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Recurrent upper respiratory tract infections, Lateral ventricle dilat...	ORPHA:3078
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Polymicrogyria, Retinal coloboma, Anteverted nares, Prominent nasal...	ORPHA:220493
Schneckenbecken Dysplasia	Hypoplastic scapulae, Stillbirth, Umbilical hernia, Advanced tarsal ossification, Limb undergrowt...	OMIM:269250
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Charcot-Marie-Tooth Disease Type 4A	Joint contracture of the hand, Hyporeflexia of upper limbs, Hand muscle weakness, Limited wrist m...	ORPHA:99948
Joubert Syndrome 2	Abnormal corpus callosum morphology, Depressed nasal bridge, Nephronophthisis, Postaxial foot pol...	OMIM:608091
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Ventriculomegaly, Skull asymmetry, Anteverted nares, Single transverse palmar ...	OMIM:614701
3-Hydroxyisobutyric Aciduria	Microtia	ORPHA:939
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Blepharitis, Palmoplantar keratoderma, Keratitis, Sparse eyelashes, Ectropion, Co...	OMIM:308800
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Cerebral atrophy, Camptodacty...	ORPHA:356961
Fried Syndrome	Thickened calvaria, Cerebral calcification, Hydrocephalus	ORPHA:85335
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Progressive microcephaly, Dandy-Walker malformation, Short nose	ORPHA:438178
Schuurs-Hoeijmakers Syndrome	Low-set ears, Highly arched eyebrow, Long eyelashes, Patent foramen ovale, Low anterior hairline,...	OMIM:615009
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Ventriculomegaly, Flared metaphysis, Decreased fibular diameter, Anteverted na...	OMIM:616897
Branchio-Oculo-Facial Syndrome	Cataract, Microcornea, Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, U...	ORPHA:1297
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Eversion of lateral third of lower eyelids, Hypospadias, Unilateral renal agenesis, Sparse eyebro...	ORPHA:487796
Lacrimoauriculodentodigital Syndrome 3	Cupped ear, Short thumb, Hearing impairment, Partial duplication of thumb phalanx, Absent eyelash...	OMIM:620193
Intellectual Developmental Disorder, Autosomal Dominant 1	Low-set ears, Highly arched eyebrow, Cupped ear, Sandal gap, Long eyelashes, Thick eyebrow, Low p...	OMIM:156200
Diencephalic Syndrome	Long penis, Hydrocephalus, Large hands	ORPHA:1672
Arterial Tortuosity Syndrome	Aortic root aneurysm, Umbilical hernia, Generalized arterial tortuosity, Ischemic stroke, Congeni...	OMIM:208050
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Metatropic Dysplasia	Depressed nasal bridge, Coarse metaphyseal trabecularization, Micromelia, Camptodactyly of finger...	ORPHA:2635
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, Cerebral atrophy, Cerebral calcification, Death in childhood, CSF lymphocytic p...	OMIM:610333
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Sandal gap, Bulbous nose, Prominent nose, Anteverted n...	ORPHA:2180
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Irregular tarsal ossification, Subepithelial corneal opacities, Abnor...	OMIM:221800
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Natal tooth, Occipital encephalocele, Optic disc coloboma, Polymicr...	OMIM:615948
Rhiny	Anteverted nares, Short nose	OMIM:180360
Tetrasomy 5P	Wide nasal bridge, Overlapping toe, Anteverted nares, Pericallosal lipoma, Redundant neck skin, C...	ORPHA:3309
Noonan Syndrome 6	Low-set ears, Hypertrophic cardiomyopathy, Multiple lentigines, Sensorineural hearing impairment,...	OMIM:613224
Crouzon Syndrome	Choanal atresia, Multiple suture craniosynostosis, Frontal bossing, Turricephaly, Cerebellar hypo...	ORPHA:207
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Anteverted nares, Hypoplastic pubic bone, Metaphyseal wide...	OMIM:614524
Treacher Collins Syndrome 2	Conductive hearing impairment, Fusion of middle ear ossicles, Downslanted palpebral fissures, Ano...	OMIM:613717
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Corticospinal tract hypoplasia, Toe ...	ORPHA:819
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Van Maldergem Syndrome 2	High anterior hairline, Cutaneous syndactyly of toes, Conductive hearing impairment, Clinodactyly...	OMIM:615546
Rapp-Hodgkin Syndrome	Small nail, Hearing impairment, Supernumerary nipple, Recurrent otitis media, Progressive alopeci...	OMIM:129400
Coffin-Siris Syndrome 7	Low-set ears, Hearing impairment, Macrotia, Recurrent otitis media, Thick eyebrow, Patent foramen...	OMIM:618027
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum...	OMIM:256710
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Distichiasis, Abnormal...	ORPHA:1807
Oculodentodigital Dysplasia	Toe syndactyly, Finger syndactyly, Clinodactyly, Hearing impairment, Ventricular septal defect, A...	ORPHA:2710
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Dysgyria, Cerebellar...	ORPHA:352682
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Agenesis of cerebe...	OMIM:220200
Joint Laxity, Short Stature, And Myopia	Talipes equinovarus, Iris coloboma, Chorioretinal coloboma, Umbilical hernia	OMIM:617662
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Thumb contracture, Absent septum pellucidum, Agenesis of corpus c...	OMIM:307000
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Moynahan Syndrome	Alopecia, Sparse hair, Sensorineural hearing impairment	ORPHA:2574
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Unilateral renal agenesis, Dermatochalasis, Short distal phalanx ...	ORPHA:221139
Congenital Hereditary Endothelial Dystrophy Type Ii	Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co...	ORPHA:293603
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Broad thumb, Brachydactyly, Downslanted palpebral fissures	OMIM:614526
Intermediate Generalized Junctional Epidermolysis Bullosa	Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia...	ORPHA:79402
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Sparse eyebrow, Hearing impairment, Downslant...	OMIM:302960
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Abnormal heart morphology, Narrow palm, Multiple cafe-au-lait spots, Ho...	ORPHA:1445
Fryns Syndrome	Abnormal aortic arch morphology, Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal a...	ORPHA:2059
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Ventriculomegaly, Plagiocephaly, Short columella, Turricephaly, Microcephaly, ...	OMIM:613603
49,Xxxyy Syndrome	Wide nasal bridge, Recurrent upper respiratory tract infections, Ventriculomegaly, Finger clinoda...	ORPHA:261534
Adnp Syndrome	Low-set ears, Recurrent upper respiratory tract infections, Broad thumb, High anterior hairline, ...	ORPHA:404448
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplastic iliac wing, Genu valgum, Broad foot, Multicentric ossification ...	OMIM:223800
17Q23.1Q23.2 Microdeletion Syndrome	Highly arched eyebrow, Shallow acetabular fossae, Abnormal epiphysis morphology, Sandal gap, Pate...	ORPHA:261279
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ...	OMIM:217085
Noonan Syndrome 14	Aortic regurgitation, Low-set ears, Sparse eyebrow, Clinodactyly, Hypertrophic cardiomyopathy, Li...	OMIM:619745
Garg-Mishra Progeroid Syndrome	Sparse hair, Small nail, Slender long bone, Slender metacarpals, Microphthalmia, Broad palm, Cafe...	OMIM:620601
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Hypertension, Short palm, Syndactyly	ORPHA:79094
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Aplasia/Hypoplasia affecting the eye, Diaphyseal undertubul...	ORPHA:175
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Microcephaly, Shortening of all...	OMIM:615716
Distal Deletion 9P	Aplasia/Hypoplasia of the earlobes, Abnormal helix morphology, Low-set, posteriorly rotated ears,...	ORPHA:1642
Meier-Gorlin Syndrome 3	Low-set ears, Recurrent pneumonia, Sparse pubic hair, Slender long bone, Patellar hypoplasia, Bre...	OMIM:613803
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Short nose, Pes cavus, Periventricular l...	OMIM:619833
X-Linked Intellectual Disability, Van Esch Type	Clinodactyly of the 5th finger, Microtia	ORPHA:163976
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Microcephaly, Encephalocele, Convex nasal ridge, Short nose	OMIM:200130
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	Abnormal finger morphology, Bilateral talipes equinovarus	ORPHA:2560
Seckel Syndrome 2	Few cafe-au-lait spots, Heart murmur, Clinodactyly of the 5th finger, Microphthalmia	OMIM:606744
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Omphalocele, Patent ductus arteriosus, Vascular ring	OMIM:601927
Meier-Gorlin Syndrome 4	Low-set ears, Slender long bone, Emphysema, Breast hypoplasia, Patellar aplasia, Microtia	OMIM:613804
Adams-Oliver Syndrome 5	Dystrophic toenail, Umbilical hernia, Absent toenail, Hypoplastic toenails, Patent foramen ovale,...	OMIM:616028
Contractural Arachnodactyly, Congenital	Hip contracture, Arachnodactyly, Talipes equinovarus, Bowing of the long bones, Patellar subluxat...	OMIM:121050
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Wide nasal bridge, Enlarged naris, Ulnar deviation of the hand or of fingers of the hand, Short c...	ORPHA:562528
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Choroidal neovascularization, Macular degeneration, Syndactyly	ORPHA:404451
Microtia, Hearing Impairment, And Cleft Palate	Stenosis of the external auditory canal, Increased incisura length, Mixed hearing impairment, Ove...	OMIM:612290
Coffin-Siris Syndrome 3	Macroglossia, Umbilical hernia, Inguinal hernia, Central diaphragmatic hernia	OMIM:614608
Cockayne Syndrome Type 2	Anophthalmia, Hypermelanotic macule, Hearing impairment, Macrotia	ORPHA:90322
Townes-Brocks Syndrome 1	Broad thumb, Pseudoepiphyses of second metacarpal, Lop ear, Sensorineural hearing impairment, Ven...	OMIM:107480
Herpes Simplex Virus Stromal Keratitis	Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea...	ORPHA:137599
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Hearing impairment, Abnormal earlobe morphology, Mitral regurgitation...	ORPHA:2556
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Microcephalic Primordial Dwarfism, Dauber Type	Madelung deformity, Limb undergrowth, Bilateral breast hypoplasia, Hip dysplasia, Clinodactyly of...	ORPHA:319675
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low-set ears, Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Protruding ear, Sp...	OMIM:616819
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Vesicoureteral reflux, Nephrolithiasis, Talipes equinovarus, Hip dysplasia, Clinodac...	OMIM:617219
Congenital Myopathy 20	Depressed nasal bridge, Short finger, Toe joint contracture, Talipes equinovarus, Ulnar deviation...	OMIM:620310
Pseudotrisomy 13 Syndrome	Low-set ears, Postaxial foot polydactyly, Encephalocele, Complete atrioventricular canal defect, ...	OMIM:264480
Turnpenny-Fry Syndrome	Aortic regurgitation, Low-set ears, Small hand, Conductive hearing impairment, Clinodactyly, Over...	OMIM:618371
Kbg Syndrome	Radial deviation of finger, Downslanted palpebral fissures, Macrotia, Ulnar deviation of the 2nd ...	OMIM:148050
Nievergelt Syndrome	Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal s...	OMIM:163400
Granular Corneal Dystrophy Type I	Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr...	ORPHA:98962
Congenital Toxoplasmosis	Hearing impairment, Abnormality of retinal pigmentation, Cardiomegaly, Hydrocephalus, Microphthalmia	ORPHA:858
Incontinentia Pigmenti	Finger syndactyly, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Ab...	ORPHA:464
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Hypoplastic thumbnail, Hypoplasti...	OMIM:619356
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Highly arched eyebrow, Recurrent pneumonia, Abnormal earlobe morphology, Umbili...	ORPHA:500159
Temple Syndrome	Depressed nasal bridge, Small hand, Clinodactyly, Anteverted nares, Hydrocephalus, Short foot, Fr...	OMIM:616222
Trichothiodystrophy 1, Photosensitive	Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Death in infancy...	OMIM:601675
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Brachycephaly, Choanal atresia, Hydrocephalus	OMIM:612247
Achondrogenesis Type 1A	Micromelia, Umbilical hernia, Anteverted nares, Short nose, Short foot, Frontal bossing, Short palm	ORPHA:93299
Frontorhiny	Finger clinodactyly, Camptodactyly of finger, Low-set, posteriorly rotated ears, Congenital condu...	ORPHA:391474
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Cone-shaped epiphysis, Anteverted nares, Brachydactyly, Short metatarsal,...	OMIM:614613
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Infant Botulism	Hypotension, Mydriasis, Keratoconjunctivitis sicca, Ptosis, Cardiac arrest, Hypertension	ORPHA:178478
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Periventricular leukomalacia, Microcephaly, Pes planus, Hydrocephalus	OMIM:618302
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Hypertelorism-Microtia-Facial Clefting Syndrome	Thenar muscle atrophy, Conductive hearing impairment, Atresia of the external auditory canal, Mic...	ORPHA:2213
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
49,Xxxxy Syndrome	Depressed nasal ridge, Depressed nasal bridge, Abnormal epiphysis morphology, Delayed eruption of...	ORPHA:96264
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Short 1st metacarpal, Conductive hearing impairment, Patent foramen ov...	OMIM:609053
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Hypotrichosis 9	Sparse eyebrow, Sparse body hair, Hearing abnormality, Abnormal eyelash morphology, Abnormality o...	OMIM:614237
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Chromosome 6Pter-P24 Deletion Syndrome	Low-set ears, Pigmentary retinopathy, Umbilical hernia, Tetralogy of Fallot, Frontal upsweep of h...	OMIM:612582
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Unilateral renal agenesis, Abnormal renal collecting system morphology, Microphallus...	ORPHA:468631
Yunis-Varon Syndrome	Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Bilateral...	OMIM:216340
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Pyelonephritis, Mitral...	ORPHA:90348
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Low-set ears, Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Holoprosencep...	OMIM:601357
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Hydroureter, Polydactyly, Hydronephrosis, Postaxial hand polydactyly,...	OMIM:615989
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short 5th finger, Short distal phalanx of finger, Low-set ears, Hearing impairment, Hypoplastic f...	OMIM:220500
Aymé-Gripp Syndrome	Low-set ears, Reduced arm span, Breast hypoplasia, Long eyelashes, Stenosis of the external audit...	ORPHA:1272
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Pseudoprogeria Syndrome	Cranium bifidum occultum, Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair	ORPHA:2985
Monosomy 9P	Low-set ears, Highly arched eyebrow, Atresia of the external auditory canal, Anotia, Abnormality ...	ORPHA:261112
Rhombencephalosynapsis	Ventriculomegaly, Finger syndactyly, Anteverted nares, Polydactyly, Hydrocephalus, Agenesis of ce...	ORPHA:59315
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Wide nasal base, Wide nasal bridge, Depressed nasal bridge, Oligosacchariduria, Hypoplasia of the...	ORPHA:397709
Timothy Syndrome	Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric...	OMIM:601005
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Sen...	ORPHA:3437
Wieacker-Wolff Syndrome, Female-Restricted	Ventriculomegaly, Radial deviation of the hand, Anteverted nares, Hip contracture, Microcephaly, ...	OMIM:301041
Mosaic Trisomy 9	Low-set ears, Elbow dislocation, Finger clinodactyly, Abnormal lung lobation, Camptodactyly of fi...	ORPHA:99776
Crisponi/Cold-Induced Sweating Syndrome 1	Depressed nasal bridge, Radial deviation of finger, Elbow flexion contracture, Anteverted nares, ...	OMIM:272430
Spastic Paraplegia 52, Autosomal Recessive	Wide nasal bridge, Bulbous nose, Prominent nose, Microcephaly, Talipes equinovarus	OMIM:614067
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Brachydactyly, Hydrocephalus, Short nose, Abnormality of the elbow	ORPHA:2701
Lethal Congenital Contracture Syndrome 11	Elbow flexion contracture, Bilateral talipes equinovarus, Camptodactyly, Flexion contracture of f...	OMIM:617194
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Cutaneous finger syndactyly, Thick eyebrow, Ptosis, Blepharophimosis, Synophrys	OMIM:210745
Cardiofaciocutaneous Syndrome	Genu valgum, Low posterior hairline, Atrial septal defect, Brittle hair, Sparse hair, Macrotia, P...	ORPHA:1340
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Broad thumb, Broad nasal tip, Clinodactyly, Prominent fingertip pads, Sandal g...	OMIM:618529
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia	OMIM:300978
Isotretinoin Embryopathy-Like Syndrome	Anotia, Conotruncal defect, Hydrocephalus, Microtia	OMIM:243440
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Joint contracture of the hand, Shoulder flexion contracture, Underdeveloped na...	OMIM:193700
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly...	OMIM:616099
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Choanal atresia, Depressed nasal bridge, N...	OMIM:207410
Periventricular Nodular Heterotopia 9	Clinodactyly, Prominent fingertip pads, Squared superior portion of helix, Single transverse palm...	OMIM:618918
Antley-Bixler Syndrome	Choanal atresia, Camptodactyly of finger, Anteverted nares, Femoral bowing, Turricephaly, Arachno...	ORPHA:83
Fanconi Anemia, Complementation Group L	Low-set ears, Absent thumb, Anotia, Microphthalmia, Hydrocephalus, Absent radius, Bilateral talip...	OMIM:614083
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Sensorineural hearing impairment, Pili torti...	ORPHA:202
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Small hand, Toe syndactyly, Hearing impairment, Limited elbow movement, Ventricular septal defect...	OMIM:610759
Peroxisome Biogenesis Disorder 7A (Zellweger)	Polymicrogyria, Epiphyseal stippling, Death in infancy, Talipes equinovarus, Flat occiput	OMIM:614872
Bardet-Biedl Syndrome 1	Cataract, Postaxial foot polydactyly, Radial deviation of finger, Hyperautofluorescent macular le...	OMIM:209900
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Hand polydactyly, Transposition o...	ORPHA:261243
Rodrigues Blindness	Protruding ear, Sparse hair, Fine hair, Microphthalmia	OMIM:268320
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Depressed nasal bridge, Hypercalciuria, Metaphyseal dysplasia, Micropenis, ...	OMIM:614732
Ectodermal Dysplasia-Blindness Syndrome	Hearing impairment, Fine hair, Abnormal fingernail morphology, Protruding ear, Abnormality of ski...	ORPHA:1806
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Frontal bossing, Femoral b...	OMIM:187600
Oliver Syndrome	Postaxial foot polydactyly, Short toe, Prominent fingertip pads, Camptodactyly of finger, Elbow f...	ORPHA:2920
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Ventriculomegaly, Camptodactyly of finger, Anteverted nares, Metatarsus v...	ORPHA:261236
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Hypoplasia of the corpus callosum, Microcephaly, Cerebral white matter hypoplasia, ...	OMIM:619091
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Vascular tortuosity, Umbilical hernia, Inguinal hernia, Con...	OMIM:219100
Chanarin-Dorfman Syndrome	Alopecia, Microtia, Sensorineural hearing impairment	OMIM:275630
Roberts-Sc Phocomelia Syndrome	Low-set ears, Clinodactyly, Abnormal metacarpal morphology, Microphthalmia, Absent radius, Absent...	OMIM:268300
Refsum Disease	Abnormal epiphysis morphology, Cardiomyopathy, Abnormality of retinal pigmentation, Sensorineural...	ORPHA:773
Alg3-Cdg	Hypopigmentation of the skin, Hearing impairment, Cardiomyopathy, Metaphyseal chondrodysplasia, A...	ORPHA:79321
Pseudoachondroplasia	Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys...	OMIM:177170
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Toriello-Carey Syndrome	Low-set ears, Sparse eyebrow, Clinodactyly, Cardiomyopathy, Hearing impairment, Tetralogy of Fall...	ORPHA:3338
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Atrial septal defect, Low anterior hairline	OMIM:608227
Lacrimoauriculodentodigital Syndrome 2	Cupped ear, Hearing impairment, Abnormal thumb morphology, Duplication of thumb phalanx, Microtia	OMIM:620192
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Increased CSF lactate, Focal T2 hypointense basal ganglia lesion, Talipes cavus equinovarus	ORPHA:139485
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dry hair, Myofiber disarray, Mitral regurgitation, Woolly scalp hair, Ventricular septal defect, ...	OMIM:620519
Multiple Benign Circumferential Skin Creases On Limbs	Irregular hyperpigmentation, Umbilical hernia, Congestive heart failure, Low-set, posteriorly rot...	ORPHA:2505
Chondrodysplasia Punctata 1, X-Linked Recessive	Anosmia, Short distal phalanx of finger, Depressed nasal bridge, Epiphyseal stippling, Microcepha...	OMIM:302950
Monosomy 13Q14	Low-set ears, Finger syndactyly, Protruding ear, Aplasia/Hypoplasia of the thumb, Epicanthus, Pto...	ORPHA:1587
Achondroplasia	Depressed nasal bridge, Rhizomelia, Short femur, Radial bowing, Flared metaphysis, Frontal bossin...	OMIM:100800
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Hyperpigmentatio...	OMIM:104100
Gillessen-Kaesbach-Nishimura Syndrome	Flexion contracture, Congenital diaphragmatic hernia, Omphalocele	OMIM:263210
15Q24 Microdeletion Syndrome	Wide nasal base, Depressed nasal bridge, Small hand, Clinodactyly, Microphallus, Myelomeningocele...	ORPHA:94065
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Alopecia, Sparse hair, Pigmentary retinopathy	ORPHA:3363
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Ventriculomegaly, Plagiocephaly, Broad nasal tip, Broad hallux, Vesicoureteral...	OMIM:614749
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Small nail, Thumb contracture, Hypoplastic iliac wing, Large p...	ORPHA:96334
Arthrogryposis Multiplex Congenita 5	Wide nasal bridge, Hand clenching, Umbilical hernia, Elbow flexion contracture, Premature skin wr...	OMIM:618947
Larsen-Like Syndrome	Radial deviation of the 4th finger, Absent nasal bridge, Talipes equinovarus, Brachycephaly, Bipa...	OMIM:608545
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Kabuki Syndrome 2	Short 5th finger, Highly arched eyebrow, Low-set ears, Cupped ear, Prominent fingertip pads, Spar...	OMIM:300867
Ayme-Gripp Syndrome	Low-set ears, Sparse scalp hair, Hearing impairment, Nail dystrophy, Sensorineural hearing impair...	OMIM:601088
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Cystathioninuria	Talipes equinovarus, Cystathioninuria, Nephrolithiasis	ORPHA:212
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Lissencephaly, Skull asymmetry, Umbilical hernia, Secondary microcephaly, Anteverted nares, Death...	OMIM:612938
X Small Rings	Toe syndactyly, Upper limb undergrowth, Lower limb undergrowth, Premature ovarian insufficiency, ...	ORPHA:96201
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis, Highly arched eyebrow, Overlapping toe, Long eyelashes, Thick eyebrow,...	OMIM:213980
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection	OMIM:617349
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Low-set ears, Aplasia/Hypoplasia of the earlobes, Abnormal epiphysis morphology, Micromelia, Hypo...	ORPHA:2637
Chung-Jansen Syndrome	Anteverted nares, Hip dysplasia, Clinodactyly of the 5th finger, Short nose, Tapered finger	OMIM:617991
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Atrioventricular dissociat...	OMIM:142900
Lethal Osteosclerotic Bone Dysplasia	Microcephaly, Anteverted nares, Depressed nasal ridge, Short nose	ORPHA:1832
Tetramelic Monodactyly	Hand monodactyly, Split hand, Split foot, Foot monodactyly	OMIM:187510
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Persistent l...	OMIM:617478
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Sparse eyebrow, Stenosis of the external auditory canal, Sensorineural hearing impairment, Low po...	OMIM:606164
Schwartz-Jampel Syndrome, Type 1	Abnormal femoral epiphysis morphology, Congenital hip dislocation, Joint contracture of the hand,...	OMIM:255800
Granular Corneal Dystrophy Type Ii	Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t...	ORPHA:98963
Alopecia Antibody Deficiency	Conductive hearing impairment, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyel...	ORPHA:1006
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Toe syndactyly, Semilobar holoprosencephaly, Sparse eyebrow, Fair hair, Sparse...	OMIM:129900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Ventricular septal defect, Post...	OMIM:617895
Treacher-Collins Syndrome	Blepharospasm, Cataract, Downslanted palpebral fissures, Eyelid coloboma, Absent eyelashes, Micro...	ORPHA:861
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Ptosis, Brachydactyly, Hip dysplasia,...	ORPHA:710
Aarskog-Scott Syndrome	Short 5th finger, Clinodactyly, Radial deviation of finger, Downslanted palpebral fissures, Large...	OMIM:305400
Atelosteogenesis Type Ii	Wide nasal base, Elbow dislocation, Equinovarus deformity, Genu valgum, Broad phalanx, Bilateral ...	ORPHA:56304
Borjeson-Forssman-Lehmann Syndrome	Short toe, Hearing impairment, Large earlobe, Abnormal hip bone morphology, Thick eyebrow, Campto...	ORPHA:127
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Abnormality of the kidney	OMIM:118100
Van Den Ende-Gupta Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Arachnodactyl...	OMIM:600920
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Depressed nasal bridge, Ventriculomegaly, Broad thumb, Plagiocephaly, Short thumb, Broad hallux, ...	OMIM:620224
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Talipes equinovarus, Split hand	OMIM:607831
Opsismodysplasia	Depressed nasal bridge, Broad thumb, Abnormal epiphysis morphology, Flat occiput, Frontal bossing...	ORPHA:2746
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Focal lissen...	OMIM:250220
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Epicanthus, Microcoria, ...	ORPHA:93357
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Alopecia, Ectrodactyly, Camptodactyly of finger, Oligodactyly, Abnormal hair morphology, Hypercon...	ORPHA:2273
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Thick eyebrow, Synophrys, Posteriorly rotated ears, Microtia	OMIM:602562
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Clinodactyly, Fine hair, Down-sloping shoulders, Low anterior hairline, Sensorine...	ORPHA:391408
Botulism	Mydriasis, Urinary retention, Arrhythmia	ORPHA:1267
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral metaphys...	OMIM:200600
Congenital Fibrinogen Deficiency	Abnormality of the subungual region, Left ventricular hypertrophy, Internal hemorrhage, Microphth...	ORPHA:335
Meier-Gorlin Syndrome 5	Low-set ears, Elbow dislocation, Clinodactyly, Slender long bone, Hypoplasia of the capital femor...	OMIM:613805
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Umbilical hernia, Talipes equinovarus, Brachycephaly, Narrow nasal ri...	OMIM:219150
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, De...	ORPHA:860
Periventricular Nodular Heterotopia 1	Clinodactyly, Short finger, Bicuspid aortic valve, Cerebral hemorrhage, Syndactyly	OMIM:300049
Lujan-Fryns Syndrome	Low-set ears, Camptodactyly of finger, Arachnodactyly, Protruding ear, Brachydactyly, Atrial sept...	ORPHA:776
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall...	OMIM:300963
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Micromelia, Tricuspid regurgitation, Monkey wrench femoral neck, ...	OMIM:618870
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Highly arched eyebrow, Bifid femur, Hearing impairment, Abnor...	ORPHA:138
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Slender finger, Ventriculomegaly, Dermal translucency, Underdeveloped nasal alae, Hypoplasia of t...	OMIM:618343
Chromosome 5Q12 Deletion Syndrome	Hypotension, Patent foramen ovale, Ventricular septal defect, Long toe, Atrial septal defect, Lon...	OMIM:615668
Trichinellosis	Abnormal optic nerve morphology, Central retinal artery occlusion, Conjunctival hyperemia, Anisoc...	ORPHA:863
Vacterl Association With Hydrocephalus	Renal hypoplasia, Absent thumb, Radial club hand, Hydrocephalus, Stillbirth, Aqueductal stenosis	OMIM:276950
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Hand muscle weakness,...	ORPHA:101097
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyebrow, Ankyloblepharon, Palmoplantar keratoderma, Finger syndactyly, Coarse hair, Supern...	ORPHA:1071
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Recurrent upper respiratory tract infections, Microtia	OMIM:620137
Leukodystrophy, Hypomyelinating, 10	Cerebral cortical atrophy, Reduced cerebral white matter volume, Cerebral atrophy, Hypoplasia of ...	OMIM:616420
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Microtia	OMIM:168550
9Q21.13 Microdeletion Syndrome	Polydactyly, Hydronephrosis, Long palpebral fissure, Ptosis, Hip dysplasia	ORPHA:531151
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Finger syndactyly, Telecanthus, Overfolded helix, Upslanted palpebral fiss...	ORPHA:1974
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Low-set ears, Hypertrichosis, Clinodactyly of the 5th finger, Patent foramen ovale, Ventricular s...	OMIM:620113
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair	OMIM:129490
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Hydro...	ORPHA:1458
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect	ORPHA:254351
Cri-Du-Chat Syndrome	Cataract, Optic atrophy, Downslanted palpebral fissures, Single transverse palmar crease, Epicant...	OMIM:123450
8Q24.3 Microdeletion Syndrome	Epicanthus, Short hallux, Abnormality of the kidney, Short 5th finger, Gastrointestinal hemorrhag...	ORPHA:508488
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Chordee, Broad phalanx, ...	OMIM:166250
3Mc Syndrome 3	Highly arched eyebrow, Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Radioulnar synostosi...	OMIM:248340
Spastic Paraplegia 86, Autosomal Recessive	Bilateral talipes equinovarus, Thin corpus callosum, Periventricular white matter hyperintensitie...	OMIM:619735
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper...	ORPHA:2930
Stuve-Wiedemann Syndrome 1	Low-set ears, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac b...	OMIM:601559
Chromosome 19Q13.11 Deletion Syndrome, Distal	Low-set ears, Sparse eyebrow, Overlapping toe, Cutaneous finger syndactyly, Sparse eyelashes, Nai...	OMIM:613026
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Ulnar claw, Talipes equinovarus, Pes cavus, Hammertoe	OMIM:608340
Cooper-Jabs Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Camptodactyly of finger	ORPHA:1488
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Omphalocele...	OMIM:313850
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital...	OMIM:619702
17Q24.2 Microdeletion Syndrome	Broad thumb, Otosclerosis, Upper limb undergrowth, Recurrent otitis media, Abnormality of the wri...	ORPHA:529962
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm...	ORPHA:3103
8P23.1 Microdeletion Syndrome	Tetralogy of Fallot, Abnormal aortic morphology, Congenital diaphragmatic hernia, Pulmonary arter...	ORPHA:251071
Al-Gazali Syndrome	Broad distal phalanx of finger, Hydronephrosis, Wrist flexion contracture, Bowed humerus, Scleroc...	OMIM:609465
Intellectual Developmental Disorder, Autosomal Dominant 21	Low-set ears, Long eyelashes, Single transverse palmar crease, Atrial septal defect, Posteriorly ...	OMIM:615502
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Short distal phalanx of finger, Wide nasal bri...	OMIM:618580
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Brachyturricephaly, Frontal bossing, Horseshoe kidney, Hypoplasia of the corpus...	OMIM:218350
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Premature graying of hair, Supernumerary nipple, White forelock...	OMIM:113620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane	OMIM:613150
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Focal Facial Dermal Dysplasia 3, Setleis Type	Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline	OMIM:227260
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo...	OMIM:192430
Epidermolysis Bullosa, Junctional 1B, Severe	Nail dysplasia, Nail dystrophy, Death in infancy, Syndactyly	OMIM:226700
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Plagiocephaly, Sandal gap, Bulbous nose, Brachycephaly, Clinodactyly of t...	OMIM:618430
Marshall-Smith Syndrome	Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Aspiration pneumonia, ...	OMIM:602535
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Calf muscle pseudohypertrophy, Ventriculomegaly, Occipital en...	ORPHA:370959
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Achondrogenesis	Micromelia, Umbilical hernia, Anteverted nares, Frontal bossing, Short nose	ORPHA:932
Shukla-Vernon Syndrome	Sparse hair, Long fingers, Tapered finger	OMIM:301029
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Joint contracture of the hand, Plagiocephaly, Medullary nephrocalcinosis,...	ORPHA:363528
Congenital Myopathy 10A, Severe Variant	Talipes equinovarus, Camptodactyly of finger	OMIM:614399
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Absent thumb, Lateral ventricle dilatation, Horseshoe kidney, Bowed forearm bon...	OMIM:602200
Noonan Syndrome 7	Low-set ears, Hypertrophic cardiomyopathy, Large earlobe, Low posterior hairline, Cubitus valgus,...	OMIM:613706
Tyshchenko Syndrome	Low-set ears, Supernumerary nipple, Low anterior hairline, Ventricular septal defect, Atrial sept...	OMIM:615102
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Myelopathy, Recurrent otitis media, Mi...	OMIM:252500
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Low-set ears, Horizontal eyebrow, Overlapping toe, Protruding ear, Epicanthus, Narrow palpebral f...	OMIM:618571
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Talipes equinovarus, Holopros...	ORPHA:250999
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th...	ORPHA:449400
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
20Q13.33 Microdeletion Syndrome	Hematochezia, Highly arched eyebrow, Abnormal cardiac ventricle morphology, Prominent crus of hel...	ORPHA:261311
Apert Syndrome	Choanal atresia, Depressed nasal bridge, Toe syndactyly, Broad thumb, Delayed eruption of teeth, ...	ORPHA:87
Al Kaissi Syndrome	Low-set ears, Small hand, Clinodactyly, Deep palmar crease, Atrial septal defect, Posteriorly rot...	OMIM:617694
Alfadhel Syndrome	Horseshoe kidney, Microcephaly, Talipes equinovarus, Bulbous nose	OMIM:620655
Genitopatellar Syndrome	Low-set ears, Hypoplastic ilia, Sparse scalp hair, Hearing impairment, Fine hair, Patellar aplasi...	ORPHA:85201
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Ventriculomegaly, Sandal gap, Dry skin, Agenesis of corpus callosum, Apla...	ORPHA:1812
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Cerebellar vermis hypoplasia, Ventriculomegaly, Nephronophthisis, Genu va...	OMIM:615630
Charcot-Marie-Tooth Disease Type 4G	Distal upper limb muscle weakness, Abnormal foot morphology, Pes cavus, Distal lower limb muscle ...	ORPHA:99953
Brittle Cornea Syndrome 2	Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease...	OMIM:614170
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Enuresis, Short nose	OMIM:613670
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Ventriculomegaly, Glandular hypospadias, Cerebral calcification, Antev...	ORPHA:1358
Abruzzo-Erickson Syndrome	Radioulnar synostosis, Coloboma, Hypospadias	OMIM:302905
Williams Syndrome	Megalocornea, Genu valgum, Mitral regurgitation, Radioulnar synostosis, Posterior embryotoxon, Ep...	ORPHA:904
Perlman Syndrome	Wide nasal bridge, Anteverted nares, Bilateral single transverse palmar creases, Dolichocephaly, ...	ORPHA:2849
Trigonocephaly 1	Wide nasal bridge, Long penis, Trigonocephaly, Microcephaly, Craniosynostosis, Short nose	OMIM:190440
Charge Syndrome	Low-set ears, Unilateral microphthalmos, Anophthalmia, Sensorineural hearing impairment, Ventricu...	OMIM:214800
Branchioskeletogenital Syndrome	Highly arched eyebrow, Absent nipple, Downslanted palpebral fissures, Upper limb peromelia, Large...	ORPHA:1299
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chylothorax, Abnormal hair morphology, Leukonychia, Pleural effusion, Abnormality of retinal pigm...	ORPHA:2526
Trisomy 20P	Plagiocephaly, Finger syndactyly, Umbilical hernia, Preaxial hand polydactyly, Abnormality of the...	ORPHA:261318
Cerebrofacioarticular Syndrome	Caudal appendage, Conductive hearing impairment, Abnormal heart morphology, Talipes equinovarus, ...	ORPHA:314679
Retinoblastoma	Retinoblastoma, Leukocoria, Vitreous hemorrhage, Retinal calcification, Vitritis	OMIM:180200
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Talipes equinovarus	OMIM:132800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Wide nasal bridge, Short toe, Frontal bossing, Microcephaly, Talipes equinovarus, Hypospadias	ORPHA:98791
Zaki Syndrome	Broad distal phalanx of finger, Toe syndactyly, Sparse eyebrow, Sparse lateral eyebrow, Ectrodact...	OMIM:619648
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Conductive hearing impairment, Fibular aplasia, Over...	OMIM:300373
Filippi Syndrome	Wide nasal bridge, Finger syndactyly, Broad columella, Underdeveloped nasal alae, Prominent nasal...	ORPHA:3255
Schöpf-Schulz-Passarge Syndrome	Alopecia, Palmoplantar keratoderma, Facial telangiectasia, Aplasia/Hypoplasia of the eyebrow, Spa...	ORPHA:50944
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat...	ORPHA:363705
Ehlers-Danlos Syndrome, Classic-Like, 1	Unilateral renal agenesis, Vesicoureteral reflux	OMIM:606408
Lissencephaly Syndrome, Norman-Roberts Type	Low-set ears, Patent foramen ovale, Atrial septal defect, Adducted thumb, Rocker bottom foot	ORPHA:89844
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of...	ORPHA:98974
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Coffin-Siris Syndrome 6	Low-set ears, Conductive hearing impairment, Clinodactyly, Brachydactyly, Atrial septal defect, P...	OMIM:617808
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria, Ventriculomegaly, Cerebral atrophy, Increased CSF lactate, Death in childhood, Hy...	OMIM:616034
Acrofacial Dysostosis, Catania Type	Small hand, Coarse hair, Finger syndactyly, Downslanted palpebral fissures, Low-set, posteriorly ...	ORPHA:1786
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Radial deviation of finger, Clinodactyly, Umbilical hernia, Sensorineural hearing i...	OMIM:301040
Dihydropyrimidinase Deficiency	Elevated CSF dihydrouracil concentration, Plagiocephaly, Elevated urinary thymine level, Elevated...	OMIM:222748
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal gan...	ORPHA:86822
Vater/Vacterl Association	Choanal atresia, Occipital encephalocele, Short thumb, Preaxial polydactyly, Vesicoureteral reflu...	OMIM:192350
Noonan Syndrome 10	Low-set ears, Sparse eyebrow, Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation...	OMIM:616564
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Low-set, posteriorly rotated ears, Fibular aplasi...	ORPHA:3320
Raine Syndrome	Choanal atresia, Depressed nasal bridge, Plagiocephaly, Natal tooth, Hydroureter, Micromelia, Bra...	OMIM:259775
Non-Distal Duplication 13Q	Trigonocephaly, Arachnodactyly, Microcephaly, Postaxial hand polydactyly, Short nose	ORPHA:1702
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Ventriculomegaly, Overtubulat...	OMIM:618150
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect, Death in infancy, Microphthalmia	OMIM:613730
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Adducted thumb, Aqueductal ...	ORPHA:2182
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, High anterior hairline, Short thumb, Hearing impairment, Preaxial hand pol...	ORPHA:280
Neuropathy, Congenital Hypomyelinating, 3	Hand clenching, Abnormal foot morphology, Hypoplasia of the corpus callosum, Neonatal death, 2-3 ...	OMIM:618186
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Low-set ears, Congenital hip dislocation, Absent nipple, Downslanted palpebral fissures, Cubitus ...	OMIM:104350
Yunis-Varon Syndrome	Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Sparse eyelashes, ...	ORPHA:3472
Poland Syndrome	Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly	OMIM:173800
Temple Syndrome	Small hand, Hydrocephalus, Clinodactyly of the 5th finger, Short foot, Frontal bossing	ORPHA:254516
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Low-set ears, Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger...	OMIM:235510
Stolerman Neurodevelopmental Syndrome	Hypermelanotic macule, Telecanthus, Epicanthus, Hypoplastic nipples, Clinodactyly of the 5th fing...	OMIM:618505
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly	ORPHA:231140
Cutis Laxa, Autosomal Recessive, Type Iib	Congenital hip dislocation, Bulbous nose, Redundant skin, Excessive wrinkled skin, Agenesis of co...	OMIM:612940
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Toe syndactyly, Hearing impairment, Atresia of the external auditory canal...	OMIM:601808
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Posterior...	OMIM:610205
Congenital Myopathy 24	Talipes equinovarus, Pes cavus, Scapular winging	OMIM:617336
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Carpal synostosis, Talipes equinovarus, Pes planus, Tarsal synostosis, Shor...	OMIM:272460
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Deviation of finger, Arachnodactyly, Congenital finger flexion contractures, Bilateral talipes eq...	ORPHA:1154
Senior-Loken Syndrome 9	Nephronophthisis, Stage 5 chronic kidney disease, Polydactyly, Hypoplasia of the femoral head, Tu...	OMIM:616629
Global Developmental Delay With Or Without Impaired Intellectual Development	Low-set ears, Pulmonary sequestration, Atrial septal defect, Ventricular septal defect	OMIM:618330
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Low-set ears, Ectrodactyly, Hypoplastic fingernail, Polydactyly, Dysmenorrhea, ...	ORPHA:397590
Triploidy	Finger syndactyly, Low-set, posteriorly rotated ears, Hydrocephalus, Abnormal cardiac septum morp...	ORPHA:3376
Phace Association	Arterial stenosis, Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal carotid ...	OMIM:606519
Joubert Syndrome With Hepatic Defect	Nephropathy, Cerebellar vermis hypoplasia, Multicystic kidney dysplasia, Occipital encephalocele,...	ORPHA:1454
Rere-Related Neurodevelopmental Syndrome	Hearing impairment, Low-set, posteriorly rotated ears, Epicanthus, Broad eyebrow, Ptosis, Blephar...	ORPHA:494344
Autosomal Recessive Spondylocostal Dysostosis	Umbilical hernia, Camptodactyly of finger, Inguinal hernia, Congenital diaphragmatic hernia, Anom...	ORPHA:2311
Microphthalmia, Syndromic 1	Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Anophthalmia, Renal hypoplas...	OMIM:309800
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Muscular dystrophy, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Distal Deletion 12Q	Low-set ears, Congenital hypertrophy of left ventricle, Bilateral conductive hearing impairment, ...	ORPHA:96149
Robinow Syndrome, Autosomal Dominant 2	Short distal phalanx of finger, Depressed nasal bridge, Broad thumb, Clinodactyly, Umbilical hern...	OMIM:616331
Alg8-Cdg	Leukoencephalopathy, Cerebral cortical atrophy, Ventriculomegaly, Premature skin wrinkling, Hypop...	ORPHA:79325
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Frontal upsweep of hair, Ventricular septal defect, Short femur, Microtia	OMIM:617798
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Wide nasal bridge, Reduced cerebral white matter volume, Microcephaly, Talipes equinovarus, Campt...	OMIM:617333
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, 4-5 toe syndactyly, Thick eyebrow, Synophrys	OMIM:611091
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Monkey wrench femoral neck, Single transvers...	OMIM:615777
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Hearing impairment, Breast aplasia, Absent h...	ORPHA:570
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Low-set ears, Highly arched eyebrow, Abnormality of the outer ear, Clinodactyly, Thick eyebrow, O...	OMIM:617360
Mend Syndrome	Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials, Broad hallux, Abnormal ...	ORPHA:401973
Chromosome 5P13 Duplication Syndrome	Low-set ears, Single transverse palmar crease, Low posterior hairline, Long fingers, Large hands,...	OMIM:613174
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Renal hypoplasia, Joint contracture of the hand, Hypoplasi...	OMIM:248700
Bohring-Opitz Syndrome	Low-set ears, Short toe, Supernumerary nipple, Hypertrichosis, Overlapping toe, Mesomelic/rhizome...	OMIM:605039
Frank-Ter Haar Syndrome	Low-set ears, Mitral valve prolapse, Ventricular septal defect, Bowing of the long bones, Talipes...	OMIM:249420
Fibrochondrogenesis 1	Hypoplastic ischia, Depressed nasal bridge, Hypoplastic scapulae, Joint contracture of the hand, ...	OMIM:228520
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Multiple palmar creases, Microcephaly, Pes planus, Short nose	OMIM:611936
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Hypoplasia of the ear cartilage, Broad thumb, Camptodactyly of finger, Supernumerary nipple, Larg...	ORPHA:1236
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Low-set ears, Sparse eyebrow, Sparse hair, Hearing impairment	OMIM:619989
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm	OMIM:618238
Craniofacioskeletal Syndrome	Small hand, Ventricular septal defect, Brachydactyly, Narrow iliac wing, Atrial septal defect, Cl...	OMIM:300712
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Sandal gap, Severe conductive hearing impairment, Tricuspid regurgitation, ...	ORPHA:230851
Retinoblastoma	Hypopyon, Hyphema, Subretinal pigment epithelium hemorrhage, Retinoblastoma, Abnormality of retin...	ORPHA:790
Warburg Micro Syndrome 2	Global brain atrophy, Polymicrogyria, Secondary microcephaly, Overlapping toe, Prominent nasal br...	OMIM:614225
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Mitral regurgitation, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Protruding ...	OMIM:301039
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Slender long bone, Anteverted nares, Dolichocephaly, Cubitus valgus, Aplasia/Hyp...	ORPHA:1185
Isolated Klippel-Feil Syndrome	Hearing impairment, Abnormal shoulder morphology, Ventricular septal defect, Low posterior hairli...	ORPHA:2345
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Mydriasis, Broad femoral neck, Optic nerve compression, Epicanthus, Diaphyseal dys...	OMIM:619727
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Transposition of ...	ORPHA:1209
Revesz Syndrome	Leukocoria, Exudative retinopathy, Megalocornea	OMIM:268130
Paternal Uniparental Disomy Of Chromosome 5	Abnormally large globe, Secundum atrial septal defect, Rhizomelic arm shortening, Short lower lim...	ORPHA:96190
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Abnormal basal ga...	ORPHA:397715
Nablus Mask-Like Facial Syndrome	Low-set ears, Highly arched eyebrow, Joint contracture of the hand, Sparse eyebrow, Clinodactyly,...	OMIM:608156
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ...	ORPHA:2326
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Toe syndactyly, Optic disc coloboma, Camptodactyly of finger, Tricuspi...	ORPHA:261337
Fg Syndrome 5	Depressed nasal bridge, Trigonocephaly, Anteverted nares, Hypospadias, Short nose	OMIM:300581
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Bilateral talipes equinovarus, Talipes equinovarus, Flexion contracture of finger, Adducted thumb	OMIM:618484
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism, Finger joint contracture, Flexion contracture of toe	ORPHA:48431
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse pubic hair, Toe syndactyly, Sparse eyebrow, Fair hair, Ectrodactyly, Sparse scalp hair, He...	OMIM:604292
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aplasia/Hypoplasia of the corpus callosum, Death in childhood, Talipes equinovarus, Albuminuria, ...	OMIM:214100
Noonan Syndrome 4	Low-set ears, Sparse eyebrow, High anterior hairline, Hypertrophic cardiomyopathy, Ventricular se...	OMIM:610733
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal ...	ORPHA:371428
Cantú Syndrome	Short distal phalanx of finger, Finger syndactyly, Long eyelashes, Thick eyebrow, Curly eyelashes...	ORPHA:1517
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin, Sparse hair, Macrotia, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Fine hair, Thick eyebrow, Single transverse palmar crease, ...	OMIM:614800
Lowry-Maclean Syndrome	Coarctation of aorta, Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:2409
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Palmoplantar keratoderma, Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Spa...	OMIM:618535
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Cerebral atrophy, Abnormal foot morphology, Secondary microcephaly, Hypoplasia of the corpus call...	OMIM:615599
Trichothiodystrophy 3, Photosensitive	Low-set ears, Hearing impairment, Trichorrhexis nodosa, Tiger tail banding, Brittle hair, Microph...	OMIM:616395
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Genu valgum, Hematuria, Proximal renal tubular acidosis, Chorioretinal dysplasia, Mi...	ORPHA:534
Chromosome 10Q26 Deletion Syndrome	2-3 toe cutaneous syndactyly, Congenital hip dislocation, Low-set ears, Toe syndactyly, Prominent...	OMIM:609625
Mucopolysaccharidosis-Plus Syndrome	Recurrent pneumonia, Coarse hair, Congestive heart failure, Hypertrophic cardiomyopathy, Long eye...	OMIM:617303
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Abnormal earlobe morphology, Absent toenail, Sensorineural hearing impairment, Ar...	ORPHA:261330
Rhizomelic Limb Shortening With Dysmorphic Features	Short 5th finger, Rhizomelia, Short thumb, Prominent fingertip pads, Single transverse palmar cre...	OMIM:618821
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Low-set ears, Mitral regurgitation, Ventricular septal defect, Low posterior hairline, Atrial sep...	OMIM:617506
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Omphalocele	ORPHA:95706
Jansen-De Vries Syndrome	Central diaphragmatic hernia	OMIM:617450
Nance-Horan Syndrome	Protruding ear, Short metacarpal, Microphthalmia	ORPHA:627
Peho Syndrome	Cerebral cortical atrophy, Pedal edema, Ventriculomegaly, Anteverted nares, Microcephaly, Hydroce...	ORPHA:2836
Van Esch-O'Driscoll Syndrome	Clinodactyly of the 5th finger, Ventricular septal defect, Protruding ear, Pulmonary artery steno...	OMIM:301030
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Wide nasal bridge, Sandal gap, Arachnodactyly, Talipes equinovarus, Pes planus, Hip dysplasia, Ca...	OMIM:617146
Ellis Van Creveld Syndrome	Synostosis of carpal bones, Abnormal hair morphology, Genu valgum, Ventricular septal defect, Apl...	ORPHA:289
Paganini-Miozzo Syndrome	Low-set ears, Posteriorly rotated ears, Microtia	OMIM:301025
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Depressed nasal ridge, Renal hypoplasia, Patellar hypoplasia, Anteverted nares, Vesicoureteral re...	ORPHA:464288
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Horseshoe kidney, Bulbous nose, Cerebral calcificatio...	ORPHA:46059
Pelger-Huet Anomaly	Depressed nasal bridge, Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th...	OMIM:169400
Lambotte Syndrome	Microcephaly, Semilobar holoprosencephaly, Preaxial foot polydactyly, Convex nasal ridge	OMIM:245552
Burn-Mckeown Syndrome	Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose	ORPHA:1200
Faciodigitogenital Syndrome, Autosomal Recessive	Hearing impairment, Down-sloping shoulders, Microtia, Broad palm, Metatarsus adductus, Camptodact...	OMIM:227330
Bainbridge-Ropers Syndrome	Hand clenching, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia o...	OMIM:615485
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Long hallux, Anteverted nares, Short nose, Tapered finger	OMIM:619854
Distal Duplication 5Q	Absent thumb, Chorioretinal coloboma, Prominent nasal bridge, Microcephaly, Brachydactyly, Hypopl...	ORPHA:96097
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Hypoplasia of the pons, Cerebral atr...	OMIM:616430
Van Maldergem Syndrome 1	Conductive hearing impairment, Clinodactyly, Atresia of the external auditory canal, Cutaneous fi...	OMIM:601390
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Joint contracture of the hand, Midline brain calcifications, Delayed eruption ...	OMIM:247200
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Ectodermal Dysplasia/Skin Fragility Syndrome	Palmoplantar blistering, Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingerna...	OMIM:604536
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Broad thumb, Secundum atrial septal defect, Clinodactyly, Long hallux, Hallux valgus, Recurrent l...	OMIM:620194
Coach Syndrome 2	Cerebellar vermis hypoplasia, Chorioretinal coloboma, Agenesis of corpus callosum, Coloboma, Hydr...	OMIM:619111
Mullegama-Klein-Martinez Syndrome	Low-set ears, Hypoplastic left heart, High anterior hairline, Atresia of the external auditory ca...	OMIM:301022
3Q29 Microdeletion Syndrome	Low-set ears, Pulmonary arterial hypertension, Subvalvular aortic stenosis, Abnormality of skin p...	ORPHA:65286
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Unilateral renal agenesis, Metaphyseal cupping, Irregular iliac crest, Downslanted palpebral fiss...	ORPHA:99646
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Chorioretinal coloboma, Frontal bossing, Bulbous nose, Agenesis of corpus callo...	OMIM:615219
Humeroradial Synostosis	Small earlobe, Humeroradial synostosis, Microtia	OMIM:236400
2Q37 Microdeletion Syndrome	Highly arched eyebrow, Small hand, Toe syndactyly, Sparse eyebrow, Finger syndactyly, Sparse scal...	ORPHA:1001
Meacham Syndrome	Tetralogy of Fallot, Conotruncal defect, Congenital diaphragmatic hernia, Coarctation of aorta, T...	ORPHA:3097
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Polymicrogyria, Anteverted nares, Redundant skin, Excessive wrinkled ...	OMIM:219200
Nail-Patella Syndrome	Patellar aplasia, Hematuria, Talipes equinovarus, Disproportionate prominence of the femoral medi...	OMIM:161200
Seckel Syndrome 9	Pulmonary artery hypoplasia, Hypertrichosis, Ventricular septal defect, Protruding ear, Talipes e...	OMIM:616777
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Hearing impairment, Joint contracture of the 5th finger, Mitral valve prolapse, Sen...	OMIM:602782
Nail-Patella Syndrome	Equinovarus deformity, Abnormal tibia morphology, Talipes calcaneovalgus, Contracture of the dist...	ORPHA:2614
Long-Olsen-Distelmaier Syndrome	Low-set ears, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Congestiv...	OMIM:620609
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec...	OMIM:619371
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Choanal atresia, Depressed nasal bridge, Ventriculomegaly, Chorioretinal coloboma, Bulbous nose, ...	ORPHA:284169
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Glandular hypospadias, Trigonocephaly, Bulbous nose, Prominent occiput, Depressed nasal tip, Redu...	OMIM:604314
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Hearing impairment, Overlapping toe, Ventricular septal defect, Bicuspid aortic valv...	ORPHA:508498
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Short thumb, Tetralogy of Fallot, Mitral regurgitation, Mitral valve pro...	OMIM:612561
Atrial Septal Defect 2	Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def...	OMIM:607941
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Ptosis, Anisocoria, Orthostatic hypotension	OMIM:615510
Prune1-Related Neurological Syndrome	Plagiocephaly, Cerebral atrophy, Microcephaly, Bilateral talipes equinovarus, Thin corpus callosum	ORPHA:544469
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Micromelia, Equinovarus deformity, Broad long bones, Encephalocele...	OMIM:224400
Beare-Stevenson Cutis Gyrata Syndrome	Choanal atresia, Depressed nasal bridge, Ventriculomegaly, Natal tooth, Overlapping toe, Antevert...	OMIM:123790
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Trigonocephaly...	OMIM:619179
Peho Syndrome	Edema of the dorsum of feet, Polymicrogyria, Hypoplasia of the corpus callosum, Progressive micro...	OMIM:260565
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Depressed nasal bridge, Toe syndactyly, Hydroureter, Broad nasal tip, 3-4 toe syndactyly, Narrow ...	OMIM:300707
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Toe syndactyly, Broad nasal tip, Clinodactyly, Radial deviation of ...	OMIM:277170
Meier-Gorlin Syndrome 2	Slender long bone, Breast hypoplasia, Patellar aplasia, Camptodactyly, Abnormal pinna morphology,...	OMIM:613800
Charcot-Marie-Tooth Disease, Type 4B3	Distal lower limb muscle weakness, Microcephaly, Pes planus, Urinary incontinence, Syndactyly	OMIM:615284
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Sparse eyebrow, Trichorrhexis nodosa, Protruding ear, Woolly hair	OMIM:619691
Intellectual Developmental Disorder, X-Linked, Syndromic 35	2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Contracture of the proximal interphal...	OMIM:300998
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Tetralogy of Fallot, Abno...	ORPHA:980
Holoprosencephaly 7	Hypoplastic nasal septum, Alobar holoprosencephaly, Agenesis of corpus callosum, Bifid nose, Abse...	OMIM:610828
Mosaic Trisomy 16	Short forearm, Pulmonary hypoplasia, Clinodactyly, Short thumb, Hearing impairment, Abnormal hear...	ORPHA:1708
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Nicolaides-Baraitser Syndrome	Dry hair, Broad 2nd toe, Low posterior hairline, Absent eyebrow, Sparse hair, Short metacarpal, M...	OMIM:601358
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail...	OMIM:614931
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Aplasia of the distal phalanx of the 5th toe, Small nail, Hearing impair...	ORPHA:364577
Frontometaphyseal Dysplasia	Joint contracture of the hand, Broad thumb, Short distal phalanx of the thumb, Limited elbow move...	ORPHA:1826
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Abnormal EKG, Leukonychia, Sparse eyelashes, Sparse axillary ha...	OMIM:613102
Heart And Brain Malformation Syndrome	Low-set ears, Hand clenching, Camptodactyly of finger, Ventricular septal defect, Attached earlob...	OMIM:616920
Cockayne Syndrome Type 1	Pigmentary retinopathy, Hearing impairment, Anophthalmia, Absent brainstem auditory responses, Hy...	ORPHA:90321
Tetrasomy 15Q26	Low-set ears, Cupped ear, Arachnodactyly, Hydrocephalus, Atrial septal defect, Camptodactyly	OMIM:614846
Neurotrophic Keratopathy	Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e...	ORPHA:137596
Tarp Syndrome	Prominent antihelix, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Hearing impa...	ORPHA:2886
Non-Acquired Isolated Growth Hormone Deficiency	Sparse hair, Genu valgum	ORPHA:631
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Dysplasia of the femoral head, Bowing of the long bo...	ORPHA:536471
Warburg Micro Syndrome 3	Cerebral cortical atrophy, Ventriculomegaly, Polymicrogyria, Secondary microcephaly, Hypoplasia o...	OMIM:614222
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Low-set ears, Sparse eyebrow, Broad thumb, Toe syndactyly, Single transverse palmar crease, Low a...	OMIM:619720
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Low-set ears, Protruding ear, Simple ear, Sparse hair, Posteriorly rotated ears	OMIM:620001
Cardiofaciocutaneous Syndrome 1	Low-set ears, Hearing impairment, Absent eyelashes, Low posterior hairline, Absent eyebrow, Atria...	OMIM:115150
13Q12.3 Microdeletion Syndrome	Camptodactyly, Congenital diaphragmatic hernia	ORPHA:412035
Spastic Paraplegia 51, Autosomal Recessive	Wide nasal bridge, Cerebral cortical atrophy, Ventriculomegaly, Bulbous nose, Talipes equinovarus...	OMIM:613744
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Anosmia, Genu valgum, Abnormal metacarpal morphology, Brachydacty...	ORPHA:1295
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Alopecia, Recurrent otitis media, Recurrent sinusitis, Atrial septal defect,...	OMIM:618282
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Hypoplasia of the corpus callosum, Microcephaly, Hip dysplasia, Edema of the...	ORPHA:544503
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Meier-Gorlin Syndrome 6	Conductive hearing impairment, Sandal gap, Umbilical hernia, Emphysema, Stenosis of the external ...	OMIM:616835
Hypotrichosis 6	Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair	OMIM:607903
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Joint contracture of the hand, Brachyturricephaly, Umbilical hernia, Anteverted ...	OMIM:182212
Developmental Delay With Or Without Dysmorphic Facies And Autism	Hypoplasia of the corpus callosum, Short foot, Short nose, Cerebellar vermis hypoplasia, Micropha...	OMIM:618454
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Abnormal eyelid morphology, Hypopi...	ORPHA:2221
Aredyld Syndrome	Abnormal pelvic girdle bone morphology, Sparse body hair, Low-set, posteriorly rotated ears, Abno...	ORPHA:1133
Pontocerebellar Hypoplasia, Type 8	Low-set ears, Hypertrichosis, Long eyelashes, Thick eyebrow, Patent foramen ovale, Ventricular se...	OMIM:614961
Fountain Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Thick eyebrow, Sensorineura...	ORPHA:3219
Silver-Russell Syndrome 1	Urethral valve, Abnormality of the ureter, Clinodactyly of the 5th finger, Short distal phalanx o...	OMIM:180860
Congenital Heart Defects And Skeletal Malformations Syndrome	Camptodactyly, Coarctation of aorta, Aortic root aneurysm, Congenital diaphragmatic hernia	OMIM:617602
Methylmalonic Acidemia With Homocystinuria	Microcephaly, Hydrocephalus	ORPHA:26
Jaberi-Elahi Syndrome	Low-set ears, Hand clenching, Sparse eyebrow, Fine hair, Sparse eyelashes, Protruding ear, Talipe...	OMIM:617988
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Abnormal optic nerve morphology, Hip dysplasia, Anisocoria, Hammertoe	ORPHA:99949
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Mesomelia, Depressed nasal bridge, Rhizomelia, Femoral bowing, Redundant skin, Hypoplasia of the ...	OMIM:616482
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Loose anagen hair, Sparse scalp hair, Low-set ears, Hypertrophic cardiomyop...	OMIM:607721
Alg12-Cdg	Posterior plagiocephaly, Overlapping fingers, Hypoplasia of the corpus callosum, Talipes equinova...	ORPHA:79324
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange...	OMIM:618618
Congenital Disorder Of Glycosylation, Type Iq	Low-set ears, Microphthalmia, Abnormality of skin pigmentation, Hypertrichosis	OMIM:612379
Trisomy 17P	Thick nasal alae, Prominent nose, Wide nose, Hydronephrosis, Microcephaly, Tapered finger, Talipe...	ORPHA:261290
Chromosome Xq13 Duplication Syndrome	Limited elbow extension, Finger joint hypermobility, Hyperintensity of cerebral white matter on M...	OMIM:301069
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Limited elbow extension, Deep palmar crease, Thickened ears, C...	ORPHA:363659
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Death in infancy	OMIM:258320
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, Short metacarpal, Lens ...	OMIM:608328
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Wide nasal bridge, Choanal atresia, Abnormal cortical gyration, Small hand, Depressed nasal bridg...	OMIM:300968
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Highly arched eyebrow, Low-set ears, Chylothorax, Fine hair, Overfolded he...	OMIM:613563
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Broad hallux, Postaxial polydactyly, Upper eyelid entropion, Hip dyspl...	ORPHA:457284
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Hearing impairment, Fine hair, Sensorineural hearing impairment, Down-sloping shoulders, Sparse h...	OMIM:616817
Baker-Gordon Syndrome	Prominent nasal tip, Short nose, Abnormal foot morphology	OMIM:618218
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Clinodactyly, Proximal placement of thumb, Anteverted nares, Redundant ne...	OMIM:217980
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the corpus c...	OMIM:200990
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Renal agenesis	OMIM:619227
Neuroocular Syndrome 1	Hooded upper eyelid, Low-set ears, Small nail, Hypoplasia of the fovea, Brittle hair, Microphthal...	OMIM:619539
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Low-set ears, Hearing impairment, Microtia	OMIM:619056
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Clinodactyly, Sandal gap, Deep plantar creases, Anteverted nares, Hypopla...	ORPHA:357001
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly, Prominent fingertip ...	ORPHA:391372
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Cerebral cortical atrophy, Depressed nasal bridge, Broad columella, Advanced eruption of teeth, T...	OMIM:617865
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
Neurocardiofaciodigital Syndrome	Cataract, Sparse eyebrow, Vesicoureteral reflux, Polydactyly, Narrow palpebral fissure, Sclerocor...	OMIM:619869
Heterotaxy, Visceral, 1, X-Linked	Low-set ears, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocar...	OMIM:306955
Microphthalmia, Syndromic 6	Low-set ears, Toe syndactyly, Finger syndactyly, Hearing impairment, Thumb contracture, Anophthal...	OMIM:607932
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Sparse eyebrow, Multiple muscular ventricular septal defects, Death in infancy, Sparse eyelashes,...	OMIM:620070
Hermansky-Pudlak Syndrome 1	Hematochezia, Epistaxis, Hypopigmentation of the skin, Cardiomyopathy, Ocular albinism, Melanocyt...	OMIM:203300
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, He...	ORPHA:1507
Cardioacrofacial Dysplasia 2	Common atrium, Postaxial foot polydactyly, Atrioventricular canal defect, Genu valgum, Nail dyspl...	OMIM:619143
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Patellar aplasia, ...	OMIM:265000
Serkal Syndrome	Congenital diaphragmatic hernia	ORPHA:139466
Smith-Mccort Dysplasia 2	Broad femoral neck, Genu valgum, Enlarged interphalangeal joints, Limited elbow extension, Promin...	OMIM:615222
Brittle Cornea Syndrome	Abnormal epiphysis morphology, Conductive hearing impairment, Abnormality of hair pigmentation, S...	ORPHA:90354
Harel-Yoon Syndrome	Talipes equinovalgus, Frontal bossing, Short nose, Hip dysplasia	OMIM:617183
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Atresia of the external auditory canal, Shortening of all phalanges of fingers, Limb undergrowth,...	OMIM:601356
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Unilateral renal agenesis, Hydronephrosis, Short long bone, Bil...	OMIM:620454
Trichodental Dysplasia	Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the lungs, Microtia	ORPHA:1834
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Thin calvarium, Frontal bossing, Short nose	ORPHA:1129
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Talipes equinovarus, Areflexia of upper limbs, Areflexia of lower limbs	OMIM:616155
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Cerebral cortical atrophy, Ventriculomegaly, Reduced cerebral white matter vol...	OMIM:615803
Desmosterolosis	Joint contracture of the hand, Rhizomelia, Hypoplastic nasal bridge, Ventriculomegaly, Aplasia/Hy...	OMIM:602398
Cat Eye Syndrome	Low-set ears, Hypoplastic left heart, Total anomalous pulmonary venous return, Hearing impairment...	OMIM:115470
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Hypoplastic ilia, Flared metaphysis, Carpal synostosis, Dysplasia of the fe...	OMIM:615349
Parkinson Disease 15, Autosomal Recessive Early-Onset	Talipes equinovarus	OMIM:260300
Frontonasal Dysplasia 2	Low-set ears, Short palpebral fissure, Sparse eyebrow, Fine hair, Alopecia totalis, Telecanthus, ...	OMIM:613451
Nance-Horan Syndrome	Short phalanx of finger, Macrotia, Broad finger, Microphthalmia	OMIM:302350
Recombinant 8 Syndrome	Low-set ears, Abnormality of the outer ear, Hearing impairment, Camptodactyly of finger, Abnormal...	ORPHA:96167
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Rhizomelia, Frontal bossing, Irregular epiphyses, Delayed pubic bone ossificat...	OMIM:618162
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Low-set ears, Talipes equinovarus, Atrial septal defect, Dextrocardia, Microtia	OMIM:277380
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Lacrimal gland hypoplasia, Limbal stem cell deficiency, 2-3 finge...	OMIM:149730
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Highly arched eyebrow, Small hand, Low-set ears, Thick eyebrow, Ventricular...	OMIM:609460
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Sandal gap, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, 2-3 toe s...	ORPHA:477817
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Intellectual Developmental Disorder, Autosomal Dominant 73	Toe clinodactyly, Highly arched eyebrow, Low-set ears, Conductive hearing impairment, Recurrent o...	OMIM:620450
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Cerebral atrophy, Abnormal foot morphology, Secondary microcephaly, Hypoplasia of the corpus call...	ORPHA:397951
16P11.2P12.2 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Frontal bossing, Bulbous nose, Anteverted nares, Bilater...	ORPHA:261211
Megabladder, Congenital	Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr...	OMIM:618719
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Atrial septal defect, Dextrocardia, Clinodactyly of the 5th finger, Sy...	OMIM:618067
Autosomal Recessive Dopa-Responsive Dystonia	Talipes equinovarus, Pes cavus, Decreased CSF homovanillic acid concentration	ORPHA:101150
Aprosencephaly Syndrome	Finger aplasia, Aprosencephaly, Anencephaly	OMIM:207770
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:2063
Waardenburg Syndrome	Conductive hearing impairment, Hypopigmented skin patches, Hearing impairment, Premature graying ...	ORPHA:3440
Toluene Embryopathy	Hydronephrosis, Microcephaly, Biparietal narrowing, Short nose, Tapered finger	ORPHA:1920
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Hearing impairment, Abnormality of the hairline, Sensorineural hearing impairment, ...	OMIM:607872
Hallermann-Streiff Syndrome	Low-set ears, Recurrent pneumonia, Sparse eyebrow, Slender long bone, Fine hair, Sparse eyelashes...	OMIM:234100
Giant Axonal Neuropathy	Abnormal hand morphology, Genu valgum, Pes cavus, Abnormality of the Achilles tendon, Talipes equ...	ORPHA:643
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair	ORPHA:1810
Cntnap2-Related Developmental And Epileptic Encephalopathy	Pes cavus, Periventricular leukomalacia, Preaxial polydactyly	ORPHA:163681
Glass Syndrome	Broad nasal tip, Bulbous nose, Narrow nose, Anteverted nares, Prominent nasal bridge, Arachnodact...	OMIM:612313
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of...	OMIM:114300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Cerebral cortical atrophy, Short distal phalanx of finger, Plagiocephaly, Broa...	OMIM:239300
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Small nail, Hypoplastic nipples, Arrhythmia, Sparse hair, Abnormal pinna morphology	OMIM:273400
Ciliary Dyskinesia, Primary, 53	Persistent left superior vena cava, Right aortic arch	OMIM:620642
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Congenital Disorder Of Glycosylation, Type Iia	Low-set ears, Slender long bone, Macrotia, Long eyelashes, Thick eyebrow, Hirsutism, Sensorineura...	OMIM:212066
Malan Syndrome	Ventriculomegaly, Hypoplasia of the corpus callosum, Advanced eruption of teeth, Long fingers, Sh...	OMIM:614753
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,...	ORPHA:2842
Marshall-Smith Syndrome	Choanal atresia, Ventriculomegaly, Slender long bone, Anteverted nares, Cerebellar hypoplasia, Bo...	ORPHA:561
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Spontaneous, recurrent epistaxis	OMIM:614072
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Microphthalmia	OMIM:251270
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Hypop...	OMIM:225500
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Talipes equinovarus, Calf muscle hypertrophy	OMIM:616827
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Abnormal epiphysis morphology, Frontal bossing, Genu valgum, Abno...	ORPHA:53
Osteoporosis-Pseudoglioma Syndrome	Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,...	ORPHA:2788
Myasthenic Syndrome, Congenital, 24, Presynaptic	Camptodactyly, Talipes equinovarus, Knee flexion contracture, Abnormal foot morphology	OMIM:618198
Noonan Syndrome 2	Low-set ears, Mitral valve prolapse, Ventricular septal defect, Low posterior hairline, Bicuspid ...	OMIM:605275
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Death in childhood	OMIM:619985
Bcard Syndrome	Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar mus...	OMIM:612394
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Hemiatrophy...	ORPHA:2215
Lathosterolosis	2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, 2-4 toe cutaneous syndactyly, Horseshoe...	OMIM:607330
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Coronal craniosynostosis, Small hand, Depressed nasal bridge, Natal tooth, Ant...	OMIM:145420
X-Linked Intellectual Disability, Cantagrel Type	Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corpus callosum, Short nose	ORPHA:85277
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Scimitar Syndrome	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Heart block, Hyp...	ORPHA:185
Townes-Brocks Syndrome	Broad thumb, Toe syndactyly, Hearing impairment, Atrial septal defect, Microphthalmia, Abnormal p...	ORPHA:857
Trisomy 10P	Depressed nasal bridge, Short toe, Abnormality of the nose, Thumb contracture, Abnormal foot morp...	ORPHA:171929
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Genu valgum, Hypoplasia of the ovary, Generalized hypopigmentatio...	OMIM:619321
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Brachyturricephaly, Abnormality of the ureter, ...	ORPHA:1225
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit...	OMIM:602400
Marshall Syndrome	Hypoplastic ilia, Depressed nasal bridge, Radial bowing, Short nose, Irregular femoral epiphysis,...	OMIM:154780
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Secondary microcephaly, Pes cavus, Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, P...	ORPHA:289266
Fontaine Progeroid Syndrome	Low-set ears, Small nail, Neonatal death, Low posterior hairline, Bicuspid aortic valve, Atrial s...	OMIM:612289
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Talipes equinovarus, Progressive microcephaly, Cerebral atrophy	OMIM:618917
Cartilage-Hair Hypoplasia	Sparse hair, Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Sparse eyebrow, Fair ha...	OMIM:250250
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Anteverted nares, Single transverse palmar crease, Mic...	OMIM:610253
48,Xxxy Syndrome	Depressed nasal ridge, Abnormal epiphysis morphology, Delayed eruption of teeth, Elbow dislocatio...	ORPHA:96263
Arthrogryposis, Distal, Type 5	Clinodactyly, Arachnodactyly, Limited wrist extension, Decreased palmar creases, Recurrent patell...	OMIM:108145
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Genu recurvatum, Cerebral atrophy, Pes cavus, Talipes equinovarus, Split hand	OMIM:604168
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Nephronophthisis, Sandal gap, Dry skin, Scaphocephaly, Stage 5 ch...	OMIM:614099
Familial Cutaneous Collagenoma	Cardiomyopathy, Congestive heart failure, Angina pectoris, Atrial septal defect, Abnormality of s...	ORPHA:53296
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Hearing impairment, Overlapping toe, Ventricular septal defect, Low poster...	ORPHA:163956
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dysplasia of the femoral head, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Bowing...	ORPHA:536467
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Global brain atrophy, Cerebral atrophy, Frontal bossing, Microcephaly, Br...	OMIM:608776
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Conductive hearing impairment, Umbilical hernia, Recurrent otitis media, Ove...	ORPHA:99843
Autosomal Recessive Multiple Pterygium Syndrome	Axillary pterygium, Low-set ears, Popliteal pterygium, Conductive hearing impairment, Finger synd...	ORPHA:2990
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Optic nerve hypoplasia	OMIM:616364
Chromosome 13Q14 Deletion Syndrome	Low-set ears, Hearing impairment, Umbilical hernia, Supernumerary nipple, Overlapping toe, Single...	OMIM:613884
Lelis Syndrome	Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor...	ORPHA:140936
Au-Kline Syndrome	Chronic kidney disease, Overlapping toe, Lipomyelomeningocele, Short nose, Plagiocephaly, Wide na...	OMIM:616580
Joubert Syndrome 33	Syndactyly	OMIM:617767
Barber-Say Syndrome	Low-set ears, Sparse eyebrow, Absent nipple, Microtia, first degree, Hearing impairment, Hypertri...	OMIM:209885
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae, Contracture of the proximal interphalangeal joint of the 3rd finger, Epicanthus...	OMIM:618223
Kleefstra Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Delayed eruption of teeth, Anteverted nares, Renal i...	ORPHA:261494
Myoclonic-Astatic Epilepsy	Microphthalmia, Frontal balding, Syndactyly	ORPHA:1942
Seizures-Scoliosis-Macrocephaly Syndrome	Abnormality of the outer ear, Overlapping toe, Atrial septal defect	ORPHA:466926
Monosomy 18Q	Diffuse white matter abnormalities, Depressed nasal bridge, Bulbous nose, Prominent nose, Cerebel...	ORPHA:1600
Dystonia, Dopa-Responsive	Talipes equinovarus, Pes cavus	OMIM:128230
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Low-set ears, Unbalanced atrioventricular canal defect, Toe syndactyly, Dextrotransposition of th...	OMIM:619657
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Palmoplantar keratoderma, Atresia of the external auditory canal, Conductive hearing impairment, ...	OMIM:106260
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Fractured rib, Metaphyseal spurs, Femoral bowing, Short long bone, Enl...	OMIM:618188
Desmosterolosis	Depressed nasal bridge, Abnormal cortical gyration, Ventriculomegaly, Micromelia, Abnormality of ...	ORPHA:35107
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Melanocytic nevus, Trichodysplasia, Sp...	ORPHA:1660
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Distal lower limb muscle weakness, Talipes equinovarus	ORPHA:466794
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal hypoplasia, Talipes equinovarus, Preaxial hand polydactyly	OMIM:601389
Congenital Disorder Of Glycosylation, Type Iu	Secondary microcephaly, Death in infancy, Cerebellar hypoplasia, Cerebral white matter atrophy, S...	OMIM:615042
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Microcephaly, Brachycephaly, Short nose	OMIM:615419
Wieacker-Wolff Syndrome	Cerebral atrophy, Anteverted nares, Microcephaly, Talipes equinovarus, Palmar hyperkeratosis, Cam...	OMIM:314580
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypopla...	OMIM:620156
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Hypopigmentation of hair, Abnormal heart morphology, Congestive hear...	ORPHA:70472
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Elbow flexion contracture, Bulbous nose, Anteverted nares, Limited el...	OMIM:615065
Leopard Syndrome 1	Unilateral renal agenesis, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bund...	OMIM:151100
Tetrasomy 18P	Microcephaly, Large hands, Short nose	ORPHA:3307
Diaphanospondylodysostosis	Depressed nasal ridge, Depressed nasal bridge, Polymicrogyria, Horseshoe kidney, Talipes equinova...	OMIM:608022
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Neonatal death, Hydronephrosis, Hand polydactyly, Urethral atresia, Hydrocephalus,...	OMIM:314390
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Polysyndactyly of hallux, Preaxial foot polydactyly	OMIM:235750
Joubert Syndrome 27	Polydactyly	OMIM:617120
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Scapuloh...	OMIM:602471
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic...	ORPHA:2237
Ruijs-Aalfs Syndrome	Clinodactyly, Premature graying of hair, Elbow flexion contracture, Single transverse palmar crea...	OMIM:616200
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Abnormal cortical gyration, Frontal bossing, Trigonocephaly, Hypoplasia of the corpus callosum, T...	OMIM:177980
D-Bifunctional Protein Deficiency	Depressed nasal bridge, Cerebral hypoplasia, Ventriculomegaly, Polymicrogyria, Scaphocephaly, Hyp...	OMIM:261515
Autosomal Recessive Spastic Paraplegia Type 59	Talipes equinovarus	ORPHA:401795
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Unilateral microphthalmos, Alopecia of scalp, Mitral valve prolapse, Sparse eyela...	OMIM:618874
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Optic nerve hypoplasia, Plagiocephaly, Hypoplasia of the pons, Broad nasal tip...	OMIM:300749
Cree Impaired Intellectual Development Syndrome	Low-set ears, Downslanted palpebral fissures, Cutaneous finger syndactyly, Ptosis, Rocker bottom ...	OMIM:606851
Ear-Patella-Short Stature Syndrome	Low-set ears, Aplastic clavicle, Abnormality of the outer ear, Abnormal epiphysis morphology, Sle...	ORPHA:2554
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Curly hair, Pulmoni...	OMIM:615279
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Palmoplantar keratoderma, Absent hair, Trichorrhexis n...	ORPHA:1010
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Patent ductus arteriosus, Morgagni diaphragmatic hernia	OMIM:613309
Microform Holoprosencephaly	Choanal atresia, Cyclopia, Narrow nasal bridge, Anteverted nares, Midnasal stenosis, Agenesis of ...	ORPHA:280200
Mandibuloacral Dysplasia	Alopecia, Abnormally large globe, Hypoplastic fingernail, Short clavicles, Acroosteolysis of dist...	ORPHA:2457
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Microtia, Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear	OMIM:251800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Depressed nasal bridge, Nephrocalcinosis, Hydroureter, Cerebral atro...	OMIM:615398
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Palmar telangiectasia, Sparse body hair, Pleural effusion, Absent eyelashes, Absent eye...	ORPHA:69735
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Palmar pits, Short distal phalanx of the thumb, Plantar pits, Frontal bossing,...	OMIM:109400
Neurocutaneous Melanocytosis	Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Death in i...	ORPHA:2481
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Microtia-Anotia	Anotia, Holoprosencephaly, Microtia	OMIM:600674
Holoprosencephaly 9	Alobar holoprosencephaly, Prominent antihelix, Underdeveloped tragus, Anophthalmia, Posteriorly r...	OMIM:610829
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Joint contracture of the hand, Death in childhood, Single transverse palmar crease...	OMIM:214110
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
46,Xx Sex Reversal 5	Aplasia of the left hemidiaphragm	OMIM:618901
Campomelic Dysplasia	Small abnormally formed scapulae, Depressed nasal bridge, Ventriculomegaly, Femoral bowing, Hypop...	ORPHA:140
Scapuloperoneal Spinal Muscular Atrophy	Peroneal muscle atrophy, Small hand, Clinodactyly, Scapular muscle atrophy, Talipes equinovarus, ...	OMIM:181405
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Supernumerary nipple, Contracture of the proximal interphalangeal ...	OMIM:618109
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, T...	OMIM:617260
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Upslanted palpebral fissure, Postaxial polydactyly, Epicanthus, Proximal renal tubular acidosis, ...	OMIM:615824
Serotonin Syndrome	Acute kidney injury, Hypotension, Mydriasis, Tachycardia, Hypertension	ORPHA:43116
Adult Syndrome	Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, Breast hypoplasia, Alopecia of scalp...	OMIM:103285
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Sandal gap, Short toe, Short 5th metacarpal, Anteverted nares, Clinodactyly of the 5th finger, Sp...	OMIM:617877
Orofaciodigital Syndrome I	Low-set ears, Alopecia, Dry hair, Clinodactyly, Radial deviation of finger, Hearing impairment, M...	OMIM:311200
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Microcephaly, Short nose	ORPHA:833
Frontoocular Syndrome	Low-set ears, Posteriorly rotated ears, Atrial septal defect, Pulmonic stenosis	OMIM:605321
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Sensorineural hearing impairment, Paroxysmal atrial tachycardia, Ventri...	ORPHA:49827
Koolen-De Vries Syndrome	Iris hypopigmentation, Slender finger, Prominent fingertip pads, Fair hair, Macrotia, Narrow palm...	OMIM:610443
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Male urethral meatus stenosis, Overlapping toe, Arachno...	OMIM:613406
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Branchial cyst, Single transverse palmar crease, Sensorineural hearing impairm...	ORPHA:435938
Cranioectodermal Dysplasia 1	Low-set ears, Clinodactyly, Bicuspid aortic valve, Broad distal phalanges of all fingers, Broad t...	OMIM:218330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypop...	OMIM:615249
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Aplasia/Hypoplasia of the corpus callosum, Cyclopia, Encephalocele, Cerebellar ...	ORPHA:2166
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short distal phalanx of finger, Depressed nasal bridge, Delayed eruption of teeth, Clinodactyly, ...	OMIM:615866
Barth Syndrome	Dilated cardiomyopathy, Fair hair, Congestive heart failure, Hypertrophic cardiomyopathy, Tricusp...	OMIM:302060
Marfanoid-Progeroid-Lipodystrophy Syndrome	Narrow nose, Scaphocephaly, Prominent nasal bridge, Arachnodactyly, Narrow nasal ridge, Pes valgu...	OMIM:616914
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Microtia	OMIM:619817
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Cerebral hypoplasia, Multicystic kidney dysplasia, Ventriculomegaly, Shor...	OMIM:257300
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Steinfeld Syndrome	Hearing impairment, Abnormal heart morphology, Aplasia/Hypoplasia of the thumb, Abnormal pinna mo...	OMIM:184705
15Q Overgrowth Syndrome	Wide nasal bridge, Ureterovesical stenosis, Contracture of the proximal interphalangeal joint of ...	ORPHA:314585
Craniofacial Microsomia 1	Duplicated tragus, Occipital encephalocele, Atresia of the external auditory canal, Conductive he...	OMIM:164210
Eec Syndrome	Hypospadias, Sparse eyebrow, Toe syndactyly, Keratitis, Finger syndactyly, Ectrodactyly, Corneal ...	ORPHA:1896
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Cerebral cortical atrophy, Congenital hip dislocation, Depressed...	OMIM:616007
Lamellar Ichthyosis	Abnormal helix morphology, Chronic otitis media, Aplasia/Hypoplasia of the eyebrow, Recurrent res...	ORPHA:313
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Low-set ears, Absent crus of helix, Abnormality of the outer ear...	ORPHA:2753
Mayer-Rokitansky-Küster-Hauser Syndrome	Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney, Abnormality of the kidney	ORPHA:3109
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Umbilical hernia	OMIM:273390
Chromosome Xq27.3-Q28 Duplication Syndrome	Small hand, Short foot, Sparse body hair	OMIM:300869
Oculoskeletodental Syndrome	Renal agenesis, Elbow flexion contracture, Epicanthus, Mucopolysacchariduria, Hypercalciuria, Dev...	OMIM:618440
Sotos Syndrome	Low-set ears, Long metacarpals, Sparse eyebrow, High anterior hairline, Small nail, Conductive he...	OMIM:117550
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy...	OMIM:114290
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Umbilical hernia, Tetralogy of Fallot, Congenital diaphragmatic hernia, ...	OMIM:600001
You-Hoover-Fong Syndrome	Double aortic arch, Coarctation of aorta, Vascular ring	OMIM:616954
Renpenning Syndrome 1	Joint contracture of the hand, Cupped ear, Synostosis of the proximal phalanx of the thumb with t...	OMIM:309500
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Postaxial hand polydactyly	ORPHA:1389
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Multicystic kidney dysplasia, Hyphema, Ectopia pupillae, Long hallux, Genu...	ORPHA:261552
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Congenital diaphragmatic hernia, Microphthalmia	OMIM:309801
Hurler Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Cranial hyperostosis, Umbilical herni...	OMIM:607014
Menke-Hennekam Syndrome 1	Low-set ears, Recurrent upper respiratory tract infections, Cutaneous syndactyly of toes, Sandal ...	OMIM:618332
Perrault Syndrome 1	Talipes equinovarus, Pes cavus	OMIM:233400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Low-set ears, Aplasia of the distal phalanx of the 5th toe, Small nail, Short finger, Thin eyebro...	OMIM:608670
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Micromelia, Hearing impairment, Dow...	OMIM:600383
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Recurrent upper respiratory tract infections, Prominent nasal bri...	OMIM:300534
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Alopecia universalis, Ventricular hypertrophy, Congestive heart failure, E...	ORPHA:363618
Monosomy 13Q34	Hematochezia, Epistaxis, Postaxial foot polydactyly, Horizontal eyebrow, Abnormal earlobe morphol...	ORPHA:96168
Hereditary Mucoepithelial Dysplasia	Alopecia, Fine hair, Pulmonary fibrosis, Recurrent respiratory infections, Sparse hair	ORPHA:1839
Central Core Disease	Talipes equinovarus, Pes planus, Congenital hip dislocation	ORPHA:597
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Low-set ears, Popliteal pterygium, Hearing impairment, Carpal synostosis, Elbow flexion contractu...	OMIM:178110
De Barsy Syndrome	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Congenital hip dislocation, De...	ORPHA:2962
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Broad 2nd toe, Dry skin, Lar...	OMIM:280000
Fryns Syndrome	Low-set ears, Short distal phalanx of finger, Joint contracture of the hand, Abnormal helix morph...	OMIM:229850
9Q33.3Q34.11 Microdeletion Syndrome	Epistaxis, Plagiocephaly, Patellar hypoplasia, Bulbous nose, Abnormal periventricular white matte...	ORPHA:495818
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Low-set ears, Ulnar deviation of finger, Hypoplastic left heart, Pulmonary...	OMIM:618164
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Constricted iliac wing, Recurrent upper respiratory tract infections, Chondr...	OMIM:253010
Localized Junctional Epidermolysis Bullosa	Sparse pubic hair, Dystrophic toenail, Nail dystrophy, Atrophic, patchy alopecia, Sparse axillary...	ORPHA:251393
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Ataxia-Telangiectasia	Premature graying of hair, Telangiectasia of the skin, Multiple cafe-au-lait spots, Recurrent res...	ORPHA:100
Holoprosencephaly 13, X-Linked	Low-set ears, Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hear...	OMIM:301043
Chops Syndrome	Coarse hair, Hearing impairment, Aspiration pneumonia, Long eyelashes, Thick eyebrow, Patent fora...	OMIM:616368
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair, Abnormal hip bone morphology, Protruding ear, Clinodactyly of the 5th finger, A...	ORPHA:3068
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Mydriasis, Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephri...	OMIM:619351
Thakker-Donnai Syndrome	Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia	ORPHA:1780
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Lateral ventricle dilatation, Type II lissencephaly, Abnormal basal ganglia morpholog...	ORPHA:300570
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Broad thumb, Broad hallux, Cerebral atroph...	OMIM:272200
Cloacal Exstrophy	Hip dislocation, Hydroureter, Ureterocele, Myelomeningocele, Horseshoe kidney, Abnormal tibia mor...	ORPHA:93929
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Broad nasal tip, Polymicrogyria, Anteverted nares, Redundant skin, Ex...	ORPHA:357074
Mogs-Cdg	Alopecia, Fair hair, Overlapping fingers, Long eyelashes, Hirsutism, Pulmonary edema, Sensorineur...	ORPHA:79330
Intellectual Developmental Disorder, Autosomal Dominant 72	Low-set ears, Spina bifida, Uplifted earlobe, Broad palm, Posteriorly rotated ears	OMIM:620439
Genitopalatocardiac Syndrome	Wide nasal bridge, Multicystic kidney dysplasia, Microcephaly, Brachydactyly, Hydrocephalus, Post...	ORPHA:2075
Plaa-Associated Neurodevelopmental Disorder	Leukoencephalopathy, Abnormal cortical gyration, Postaxial foot polydactyly, Ventriculomegaly, Hy...	ORPHA:521426
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Fanconi Anemia, Complementation Group E	Absent thumb, Short thumb, Hearing impairment, Abnormal heart morphology, Hyperpigmentation of th...	OMIM:600901
Combined Oxidative Phosphorylation Deficiency 55	Depressed nasal bridge, Ventriculomegaly, Proximal tubulopathy, Organic aciduria, Stage 3 chronic...	OMIM:619743
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypoplasia of the fovea, White eyebr...	ORPHA:352731
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormal tricuspid val...	ORPHA:90308
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Papillon-Lefèvre Syndrome	Palmoplantar keratoderma, Hypopigmented skin patches, Sparse body hair, Abnormal fingernail morph...	ORPHA:678
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebral cortical atrophy, Depressed nasal bridge, Global brain atrophy, Natal tooth, Ankle flexi...	OMIM:617802
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,...	OMIM:300953
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor, Syndactyly	OMIM:615631
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Abnor...	ORPHA:989
Schinzel-Giedion Midface Retraction Syndrome	Aplasia/Hypoplasia of the pubic bone, Hypoplasia of the corpus callosum, Talipes equinovarus, Abn...	OMIM:269150
Hermansky-Pudlak Syndrome 4	Epistaxis, Ocular albinism, Hypoplasia of the fovea, Albinism, Pulmonary fibrosis	OMIM:614073
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Extra-axial cerebrospinal fluid accumulation, Plagiocephaly, Underdevelop...	OMIM:619005
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi...	ORPHA:91416
Zttk Syndrome	Aortic regurgitation, Unilateral renal agenesis, Small hand, Sparse eyebrow, Optic atrophy, Downs...	OMIM:617140
Thoraco-Abdominal Enteric Duplication	Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Camptodactyly of finger	ORPHA:1759
Gomez-Lopez-Hernandez Syndrome	Cerebellar vermis hypoplasia, Skull asymmetry, Anteverted nares, Turricephaly, Brachycephaly, Cra...	OMIM:601853
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Unilateral radial aplasia, Eruption failure, Secondary microcephaly, Partial absence of thumb, 2-...	ORPHA:476126
Diamond-Blackfan Anemia	Low-set ears, Absent thumb, Short thumb, Abnormality of the thenar eminence, Abnormal heart morph...	ORPHA:124
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Plagiocephaly, Dilated third ventricle, Ventriculomegaly, Periventricular leukomalaci...	ORPHA:500055
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Recurrent upper respiratory tract infections, Short tibia, Sandal gap, Wide nose, Sho...	OMIM:607143
Bathing Suit Ichthyosis	Alopecia, Autoamputation of digits, Nail dystrophy, Palmoplantar hyperkeratosis, Sparse hair	ORPHA:100976
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Ventriculomegaly, Broad thumb, Umbilical hernia, Bulbous nose, Hypoplasia of the corpus callosum,...	OMIM:614501
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Proboscis, Cyclopia, Anteverted nares, Absent septum ...	OMIM:619895
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Cerebral cortical atrophy, Secondary microcephaly, Anteverted nares, Hypoplasi...	OMIM:618437
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Dry hair, White hair, Mitral regurgitation, Hip contr...	ORPHA:576
Bazex-Dupre-Christol Syndrome	Coarse hair, Trichorrhexis nodosa, Pili torti, Hyperpigmentation of the skin, Sparse hair, Tricho...	OMIM:301845
Gaucher Disease, Perinatal Lethal	Low-set ears, Pulmonary hypoplasia, Neonatal death, Cardiomegaly, Microtia	OMIM:608013
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Cerebral atrophy, Scaphocephaly, Death in infancy, Turricephaly, Arachnodactyly, Talipes equinovarus	OMIM:619036
Pseudoaminopterin Syndrome	Hypoplasia of the antihelix, Synostosis of carpal bones, Overlapping toe, Frontal upsweep of hair...	ORPHA:221120
Femoral-Facial Syndrome	Toe syndactyly, Encephalocele, Humeroradial synostosis, Agenesis of corpus callosum, Limited elbo...	OMIM:134780
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Methylmalonic aciduria	ORPHA:79284
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Talipes equinovarus	OMIM:619465
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Finger syndactyly, Dry skin, Agenesis of corpus callosum, Foot poly...	ORPHA:2750
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Sparse scalp hair, Radial bowing, Carpal synostosis, Genu valgum, Mitral re...	OMIM:271640
Degcags Syndrome	Low-set ears, Toe syndactyly, Hearing impairment, Premature graying of hair, Genu valgum, Unilate...	OMIM:619488
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Clinodactyly, Hypoplasia of the brainstem, Microcephaly, Abnormal cerebral whit...	ORPHA:2169
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Slender toe, Hydrocephalus, Dolichocephaly, Dandy-Walker malformation	OMIM:310400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Anophthalmia, Microphthalmia	ORPHA:2250
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Depressed nasal bridge, Rhizomelia, Frontal bossing, Short nose, Small epiphyses, Genu...	OMIM:271510
Lenz-Majewski Hyperostotic Dwarfism	Cutaneous finger syndactyly, Humeroradial synostosis, Agenesis of corpus callosum, Chordee, Diaph...	OMIM:151050
Alazami Syndrome	Low-set ears, Sparse eyebrow, Slender long bone, Atrial septal defect	ORPHA:319671
Primary Pulmonary Hypoplasia	Low-set ears, Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypop...	ORPHA:2257
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Broad thumb, Clinodactyly, Hearing impairment, Tricuspid regurgitation, Long eyelas...	OMIM:616894
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Lacrimal gland hypoplasia, Premature graying of hair, Hypogonadism, W...	OMIM:613266
Congenital Myopathy 22A, Classic	Wide nasal bridge, Scaphocephaly, Knee contracture, Hip contracture, Neonatal death, Talipes, Pes...	OMIM:620351
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s...	OMIM:620203
Smooth Muscle Dysfunction Syndrome	Mydriasis, Pulmonary arterial hypertension, Hypertension, Retinal infarction	OMIM:613834
Trisomy 8P	Clinodactyly of the 2nd finger, Overlapping toe, Agenesis of corpus callosum, Short nose, Short 1...	ORPHA:264450
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Neonatal death, White eyebrow, White eye...	OMIM:600501
Aorta Coarctation	Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent left superior vena cava,...	ORPHA:1457
Spinocerebellar Ataxia, Autosomal Recessive 21	Talipes equinovarus	OMIM:616719
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Autoamputation of digit...	OMIM:614594
Lethal Kniest-Like Dysplasia	Low-set ears, Hypoplastic ilia, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Otopalatodigital Syndrome, Type Ii	Low-set ears, Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers...	OMIM:304120
Spondyloocular Syndrome	Low-set ears, Overlapping toe, Mitral valve prolapse, Sensorineural hearing impairment, Arachnoda...	OMIM:605822
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Secundum atrial septal defect, Hypertrophic cardiomyopathy, 2-3 toe syndac...	OMIM:619121
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Mottled pigmentation, Death in early adulthood, Short clavicles, Acroosteo...	OMIM:608612
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Palmoplantar keratoderma, Abnormal fingernail morphology, Sensorineural hearing impairm...	ORPHA:659
Cerebellar-Facial-Dental Syndrome	Low-set ears, Sparse eyebrow, Slender long bone, Fine hair, Abnormal T-wave, Single transverse pa...	ORPHA:444072
Trisomy X	Clinodactyly of the 5th finger, Ventricular septal defect, Atrial septal defect, Hip dysplasia	ORPHA:3375
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Optic nerve hypoplasia, Occipital encephalocele, Atresia of the external auditory c...	OMIM:236670
Tatton-Brown-Rahman Syndrome	Short toe, Widely spaced toes, Umbilical hernia, Tricuspid regurgitation, Thick eyebrow, Mitral r...	ORPHA:404443
Tatton-Brown-Rahman Syndrome	Horizontal eyebrow, Umbilical hernia, Tricuspid regurgitation, Thick eyebrow, Mitral regurgitatio...	OMIM:615879
Galloway-Mowat Syndrome	Hypoplasia of the ear cartilage, Camptodactyly of finger, Adducted thumb, Aqueductal stenosis, Ma...	ORPHA:2065
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Depressed nasal bridge, Talipes equinovarus, Pes valgus, Pes planus...	OMIM:620029
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Hearing impairment, Abnormal heart morphology, Abnormality of skin pig...	OMIM:227650
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Single transverse palmar crease, Epicanthus, Hypopigmentation of ha...	OMIM:618541
Charcot-Marie-Tooth Disease, Type 4C	Talipes equinovarus, Pes cavus, Hammertoe	OMIM:601596
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Flexion contracture, Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Low-set ears, Semilobar holoprosencephaly, Conductive hearing impairment, Sensorineural hearing i...	OMIM:618500
Mitochondrial Myopathy And Sideroblastic Anemia	Microcephaly, Short nose	ORPHA:2598
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Aplastic clavicle, Choanal atresia, Finger syndactyly, Cranial hyperos...	ORPHA:2658
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Cerebral cortical atrophy, Cessation of head growth, Abnormal cortical gyration, Ventriculomegaly...	OMIM:617527
Opsismodysplasia	Renal phosphate wasting, Hypoplastic ischia, Rhizomelia, Metaphyseal cupping, Depressed nasal bri...	OMIM:258480
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Agenesis of corpus callosum, Talipes equinovarus, Pes planus...	OMIM:180849
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Congenital diaphragmatic hernia	OMIM:611812
Coffin-Siris Syndrome 4	Short 5th finger, Sparse scalp hair, Hearing impairment, Hypertrichosis, Mitral atresia, Long eye...	OMIM:614609
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Choanal atresia, Depressed nasal bridge, Palmoplantar keratoderma, Umbilical hernia, Anteverted n...	ORPHA:1555
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Nasu-Hakola Disease	Cerebral cortical atrophy, Ventriculomegaly, Abnormal epiphysis morphology, Cerebral calcificatio...	ORPHA:2770
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity...	OMIM:614437
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Long hallux, Bulbous nose, Anteverted nares, Prominent nasal bridge, Single transverse palmar cre...	OMIM:309583
Kapur-Toriello Syndrome	Low-set ears, Atresia of the external auditory canal, Tetralogy of Fallot, Ventricular septal def...	ORPHA:2328
Halperin-Birk Syndrome	Flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia	OMIM:618651
Developmental And Epileptic Encephalopathy 89	Wide nasal bridge, Depressed nasal bridge, Cerebral atrophy, Anteverted nares, Death in childhood...	OMIM:619124
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Patent foramen ovale, Arrhythmia, Brachydactyly, Short long bone, Brittle hair, Atrial septal def...	OMIM:619184
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Broad nasal tip, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Mi...	OMIM:620157
L1 Syndrome	Aqueductal stenosis, Adducted thumb, Hydrocephalus	ORPHA:275543
Chime Syndrome	Sparse hair, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle...	ORPHA:3474
Dubowitz Syndrome	Depressed nasal bridge, Small hand, Toe syndactyly, Broad thumb, Delayed eruption of teeth, Sanda...	ORPHA:235
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged...	OMIM:308300
Micro Syndrome	Wide nasal bridge, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Aplasia/Hypoplasia of...	ORPHA:2510
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Wide nasal bridge, Genu recurvatum, Flared metaphysis, Talipes equinovalgus, Single transverse pa...	OMIM:130070
Thoracic Dysplasia-Hydrocephalus Syndrome	Depressed nasal ridge, Communicating hydrocephalus, Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Orofaciodigital Syndrome X	Finger aplasia, Depressed nasal bridge, Preaxial hand polydactyly, Fibular aplasia, Coalescence o...	OMIM:165590
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Delayed eruption of teeth, Slender long bone, Thin calvarium, Nar...	OMIM:601812
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hirsutism, Buphthalmos, Limb undergrowth, Atrial septal defect, Recurrent lower respiratory tract...	OMIM:618005
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Sparse hair, Intestinal bleeding, Fine hair, Premature graying of hair, Metaphyseal sclerosis, Ge...	OMIM:612199
Fanconi Anemia, Complementation Group C	Absent thumb, Short thumb, Hearing impairment, Epicanthus, Hyperpigmentation of the skin, Absent ...	OMIM:227645
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cerebral cortical atrophy, Ventriculomegaly, Anteverted nares, Renal insufficiency, Absent septum...	ORPHA:96147
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Left ventricular hypertrophy, Atrial septal defect, Left-to-right shunt, Microtia	OMIM:620510
Costello Syndrome	Low-set ears, Mitral valve prolapse, Limited elbow movement, Ventricular septal defect, Talipes e...	OMIM:218040
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Palmar hyperhidrosis, Hand muscle atrophy, Knee flexion contracture, T...	OMIM:620545
Pontocerebellar Hypoplasia, Type 7	Wide nasal bridge, Ventriculomegaly, Broad nasal tip, Hypoplasia of the pons, Cerebral atrophy, H...	OMIM:614969
Opitz Gbbb Syndrome	Aortic root aneurysm, Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Persist...	ORPHA:2745
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Tetralo...	ORPHA:3186
Congenital Disorder Of Glycosylation, Type 2V	Wide nasal bridge, Underdeveloped nasal alae, Bulbous nose, Periventricular leukomalacia, Talipes...	OMIM:619493
Myopathy, Centronuclear, 2	Talipes equinovarus, Pes cavus, Scapular winging	OMIM:255200
C Syndrome	Depressed nasal bridge, Multicystic kidney dysplasia, Toe syndactyly, Micromelia, Aplasia/Hypopla...	ORPHA:1308
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Cupped ear, Nail dystrophy, Protruding ear, Atrial septal defect, Brittle hair	ORPHA:93947
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Hearing impairment, Abnormal lung lobation, Low-set, posteriorly rotated ea...	ORPHA:1052
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Microphthalmia, Patent ductus arteriosus, Optic nerve hypoplasia	OMIM:206900
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Low-set ears, Small nail, Downslanted palpebral fissures, Upslanted palpebral fissure, Sensorineu...	OMIM:616975
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Broad foot, Agenesi...	ORPHA:373
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Atrial septal defect, Pulmonic stenosis	OMIM:619239
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Prominent fingertip pads, Mitral valve prolapse, Arachnodactyly, Atrial septal defect, Curly hair	OMIM:300986
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Talipes equinovarus	OMIM:209770
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Low-set ears, Toenail dysplasia, Hearing impairment, Prominent protruding coccyx, Hirsutism, Prot...	OMIM:300966
Senior-Loken Syndrome 8	Global glomerulosclerosis, Stage 5 chronic kidney disease, Nephronophthisis, Polydactyly	OMIM:616307
Prune Belly Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Abnormality of the ureter,...	ORPHA:2970
Fanconi Anemia, Complementation Group D2	Low-set ears, Absent thumb, Short thumb, Hearing impairment, Preaxial hand polydactyly, Abnormal ...	OMIM:227646
Congenital Disorder Of Glycosylation, Type Ih	Camptodactyly, Talipes equinovarus, Death in infancy, Neonatal death	OMIM:608104
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Talipes equinovarus, Absent Achilles reflex, Plantar flexion contracture	OMIM:620011
Congenital Tracheomalacia	Abnormal pulmonary artery morphology, Tetralogy of Fallot, Right aortic arch, Partial anomalous p...	ORPHA:95430
Microcephaly 30, Primary, Autosomal Recessive	Clinodactyly of the 5th finger, Secundum atrial septal defect, Cafe-au-lait spot, Uplifted earlobe	OMIM:620183
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Hypospadias	ORPHA:544254
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale	OMIM:611363
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Short nose	ORPHA:1906
Molybdenum Cofactor Deficiency, Type B	Decreased urinary urate, Increased urinary taurine, Ventriculomegaly, Cerebral atrophy, Increased...	OMIM:252160
Atelis Syndrome 2	Low-set ears, Short palpebral fissure, Clinodactyly, Single transverse palmar crease, Dacryocysto...	OMIM:620185
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Toe syndactyly, Finger syndactyly, Ankyloblepharon, Generalized hirsutism, S...	ORPHA:1300
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic arm shortening, ...	OMIM:268305
Hypomandibular Faciocranial Dysostosis	Optic disc coloboma, Trigonocephaly, Anteverted nares, Death in infancy, Brachycephaly, Choanal s...	ORPHA:1790
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Small hand, Microphthalmia, Short foot, Posteriorly rotated ears, Short palm	OMIM:241410
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Pes cavus, Talipes equinovarus, Pes planus, Areflexia of lower limb...	OMIM:256850
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Highly arched eyebrow, Small hand, Semilobar holoprosencephaly, Clinodactyly, Broad hallux, Contr...	OMIM:301044
Otodental Dysplasia	Anteverted nares, Coloboma, Delayed eruption of teeth	OMIM:166750
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Reduced systolic function, Microphthalmia	OMIM:618805
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect...	OMIM:210900
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Telangiectasia of the skin, Foot polydactyly, Microtia	ORPHA:276280
Prader-Willi Syndrome Due To Translocation	Cerebral cortical atrophy, Small hand, Broad nasal tip, Clinodactyly, Lateral ventricle dilatatio...	ORPHA:177907
7Q31 Microdeletion Syndrome	Low-set ears, Clinodactyly of the 2nd finger, Prominent fingertip pads, Childhood onset sensorine...	ORPHA:251061
Kaufman Oculocerebrofacial Syndrome	Low-set ears, Congenital hip dislocation, Sparse eyebrow, Single transverse palmar crease, Long p...	OMIM:244450
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Gorlin Syndrome	Wide nasal bridge, Palmar pits, Plantar pits, Frontal bossing, Cerebral calcification, Calcificat...	ORPHA:377
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Cupped ear, Hearing impairment, Tetralogy of Fallot, Ventricular septal defect, Sho...	OMIM:617159
Hurler Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormal epiphysis morphology, Abnormal diaphysis morp...	ORPHA:93473
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Umbilical hernia, Long hallux, Hypoplasia of the corpus callosum, Bilateral campt...	OMIM:619234
Bent Bone Dysplasia Syndrome 2	Depressed nasal bridge, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic il...	OMIM:620076
Mirage Syndrome	Microphallus, Radial club hand, Overlapping fingers, Petechiae, Talipes equinovarus, Hydrocephalu...	OMIM:617053
Bruck Syndrome 1	Ankle flexion contracture, Elbow flexion contracture, Hip contracture, Knee flexion contracture, ...	OMIM:259450
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Portal hypertension, Sparse eyelashes, Scarring alopecia of sca...	ORPHA:59303
Frontometaphyseal Dysplasia 2	Low-set ears, Broad thumb, Hip contracture, Sensorineural hearing impairment, Talipes equinovarus...	OMIM:617137
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Tarsal synostosis, Absent phalangeal crease	OMIM:618469
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Cerebral atrophy, Scaphocephaly, Prominent nose, Renal tubular dysfunction, Mi...	OMIM:614886
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Nail dystrophy, Nail dysplasia, Palmoplantar hyperkeratosis, Sparse hair	OMIM:242300
Laryngeal Abductor Paralysis	Microcephaly, Talipes equinovarus	OMIM:150260
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Talipes equinovarus, Peroneal muscle weakness, Calf muscle hypertrophy, Scapular muscle atrophy	OMIM:611588
Auriculocondylar Syndrome 2B	Darwin tubercle of helix, Sparse hair, Question mark ear, Synophrys	OMIM:620458
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
1P36 Deletion Syndrome	Dilated cardiomyopathy, Horizontal eyebrow, Conductive hearing impairment, Camptodactyly of finge...	ORPHA:1606
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Erlenmeyer flask deformity of the femurs, Bulbous nose, Cerebral calcification,...	OMIM:618476
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Mydriasis, Acute kidney injury, Prolonged QRS complex, ...	ORPHA:90068
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ...	OMIM:615885
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Facial palsy	OMIM:615085
Neurodegeneration And Seizures Due To Copper Transport Defect	Ventriculomegaly, Short tibia, Cerebral atrophy, Glandular hypospadias, Increased CSF lactate, De...	OMIM:620306
Koolen-De Vries Syndrome	Arachnodactyly, Protruding ear, Bicuspid aortic valve, Abnormal cardiac septum morphology, Abnorm...	ORPHA:96169
Neonatal Marfan Syndrome	Ectopia lentis, Megalocornea, Tricuspid regurgitation, Downslanted palpebral fissures, Mitral reg...	ORPHA:284979
Congenital Disorder Of Glycosylation, Type Iie	Cerebral atrophy, Overlapping fingers, Hypoplasia of the corpus callosum, Death in infancy, Hydro...	OMIM:608779
Multiple Sulfatase Deficiency	Depressed nasal bridge, Broad thumb, Anteverted nares, Microcephaly, Mucopolysacchariduria, Hydro...	ORPHA:585
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Ventriculomegaly, Anteverted nares, Vesicoureteral reflux, Hypoplasia of the co...	OMIM:613735
Peters-Plus Syndrome	Low-set ears, Facial hypertrichosis, Square pelvis bone, Hearing impairment, Limited elbow moveme...	OMIM:261540
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Sparse lateral eyebrow, Downslanted palpebral fissures, Telecanthus, Polydactyly, Ptosis	ORPHA:314655
Coffin-Siris Syndrome	Short 5th finger, Recurrent upper respiratory tract infections, Prominent eyelashes, Clinodactyly...	ORPHA:1465
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Downslanted palpebral fissures, Low-...	ORPHA:958
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Inguinal hernia, Congenital diaphragmatic hernia	OMIM:614294
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Plagiocephaly, Hypoplasia of the pons, Dislocated radial head, Bulbou...	OMIM:619512
Dermotrichic Syndrome	Aminoaciduria, Depressed nasal bridge, Frontal bossing, Short nose	ORPHA:99688
Specc1L-Related Hypertelorism Syndrome	Low-set ears, Highly arched eyebrow, Abnormal helix morphology, Short toe, Finger syndactyly, Umb...	ORPHA:1519
Craniofrontonasal Syndrome	Axillary pterygium, Toe syndactyly, 3-4 finger syndactyly, Broad hallux, Downslanted palpebral fi...	OMIM:304110
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Renal hypoplasia/apl...	ORPHA:818
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Globus pallidus calcification, Short nose	OMIM:620292
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Bicuspid aortic valve, Atrial septal defect	OMIM:617744
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
3Mc Syndrome 1	Short 5th finger, Highly arched eyebrow, Caudal appendage, Hearing impairment, Conductive hearing...	OMIM:257920
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Persistence of primary teeth, Genu valgum, Hydrocephalus, Diaphyseal sclero...	OMIM:259710
Hajdu-Cheney Syndrome	Wide nasal bridge, Hypospadias, Short distal phalanx of finger, Coarse metaphyseal trabecularizat...	ORPHA:955
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Broad long bones, Broad phalanx, Short metacarpal, Short nose, Depressed nasal ridge, Enlarged na...	OMIM:271665
Larsen Syndrome	Depressed nasal bridge, Elbow dislocation, Accessory carpal bones, Knee dislocation, Talipes equi...	OMIM:150250
Mucopolysaccharidosis, Type Vii	Recurrent upper respiratory tract infections, Umbilical hernia, Heparan sulfate excretion in urin...	OMIM:253220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Positional foot deformity, 3-Methylglutaconic aciduria, Hip dysplasia, Short nose, Optic nerve hy...	ORPHA:496790
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Sensorineural hearing impairme...	OMIM:249270
Fetal Hydantoin Syndrome	Short distal phalanx of finger, Depressed nasal ridge, Microcephaly, Triphalangeal thumb, Short nose	ORPHA:1912
Hallermann-Streiff Syndrome	Sparse hair, Small hand, Alopecia, Sparse eyebrow, Sparse body hair, Congestive heart failure, Sp...	ORPHA:2108
Megalencephaly	Genu valgum, Atrial septal defect	ORPHA:2477
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Microlissencephaly-Micromelia Syndrome	Micromelia, Secondary microcephaly, Bilateral single transverse palmar creases, Cerebellar hypopl...	ORPHA:50810
Carney Complex, Type 1	Congestive heart failure, Multiple lentigines, Hirsutism, Cardiac myxoma, Freckling, Red hair, Pr...	OMIM:160980
Ring Chromosome 7 Syndrome	Short 5th finger, Cerebral cortical atrophy, Small hand, Slender finger, Plagiocephaly, Wide nasa...	ORPHA:1449
Mend Syndrome	Broad hallux, Bulbous nose, Crossed fused renal ectopia, Overlapping fingers, Overlapping toe, Pr...	OMIM:300960
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Small hand, Toe syndactyly, Short palpebral fissure, Slender long bone, Clinodactyl...	OMIM:170390
Bosma Arhinia Microphthalmia Syndrome	Absent tragus, Conductive hearing impairment, Atresia of the external auditory canal, Lacrimal du...	OMIM:603457
Carey-Fineman-Ziter Syndrome 1	Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Broad nasal tip, Hypoplasia of the brain...	OMIM:254940
Vitreoretinochoroidopathy	Retinal arteriolar constriction, Retinal arteriolar occlusion, Microphthalmia	OMIM:193220
Autosomal Recessive Centronuclear Myopathy	Pes cavus, Hip contracture, Talipes equinovarus, Long fingers, Scapular winging	ORPHA:169186
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Diaphragmatic eventration, Aorti...	OMIM:620025
Alg9-Cdg	Low-set ears, Large fleshy ears, Ventricular septal defect, Low posterior hairline, Talipes equin...	ORPHA:79328
Ataxia-Telangiectasia-Like Disorder 2	Congenital diaphragmatic hernia, Joint contracture	OMIM:615919
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Hermansky-Pudlak Syndrome 11	Epistaxis, Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Hypoplasia of the fovea, Iris...	OMIM:619172
Monosomy 9Q22.3	Palmar pits, Ventriculomegaly, Plantar pits, Delayed eruption of teeth, Umbilical hernia, Trigono...	ORPHA:77301
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Eyelid coloboma, Ptosis, Raynaud phenomenon, Micropenis, Development...	ORPHA:51
Right Atrial Isomerism	Common atrium, Total anomalous pulmonary venous return, Abnormal lung lobation, Tetralogy of Fall...	OMIM:208530
Perlman Syndrome	Interrupted aortic arch, Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic h...	OMIM:267000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal corpus callosum morphology, Congenital hip dislocation, Plagiocephaly, Lateral ventricle...	ORPHA:457279
Alexander Disease Type I	Focal T2 hyperintense basal ganglia lesion, Rosenthal fibers, Abnormal cerebral white matter morp...	ORPHA:363717
Digeorge Syndrome	Unilateral renal agenesis, Short palpebral fissure, Renal insufficiency, Hydronephrosis, Posterio...	OMIM:188400
White-Sutton Syndrome	Facial hypotonia, Ventral hernia, Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:468678
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Broad thumb, Frontal balding, Overlapping toe, Sensorineural hearing impairment, Bi...	OMIM:612474
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Branc...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Branc...	ORPHA:453504
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Umbilical hernia, Heparan sulfate excretion in urine, Scaphocephaly, U...	OMIM:309900
Radial Aplasia, X-Linked	Penile hypospadias, Hydrocephalus, Absent radius	OMIM:312190
Joubert Syndrome 3	Low-set ears, Highly arched eyebrow, Pigmentary retinopathy, Atrial septal defect	OMIM:608629
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Wide nasal bridge, Depressed nasal bridge, Shallow acetabular...	OMIM:242900
Poland Syndrome	Abnormality of the outer ear, Small hand, Finger syndactyly, Encephalocele, Low posterior hairlin...	ORPHA:2911
Kagami-Ogata Syndrome	Frontal hirsutism, Large placenta, Coxa valga, Microtia	ORPHA:254519
Rabson-Mendenhall Syndrome	Cardiomyopathy, Premature graying of hair, Hypertrichosis, Low anterior hairline, Polydactyly, Hi...	ORPHA:769
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia	ORPHA:261197
Cranioectodermal Dysplasia 2	Low-set ears, Recurrent pneumonia, Rhizomelia, Sparse eyebrow, Clinodactyly, Patent foramen ovale...	OMIM:613610
Ventriculomegaly With Cystic Kidney Disease	Ventriculomegaly, Renal insufficiency, Renal corticomedullary cysts, Postaxial polydactyly, Hydro...	OMIM:219730
Grange Syndrome	Finger clinodactyly, Renal artery stenosis, Brachydactyly, Renovascular hypertension, Syndactyly	OMIM:602531
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Sparse hair, Pigmentary retinopathy, Broad palm, Abnormality of the ear	OMIM:268020
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Hypoplas...	OMIM:253200
Noonan Syndrome	Coarse hair, Abnormal EKG, Hypertrophic cardiomyopathy, Low-set, posteriorly rotated ears, Melano...	ORPHA:648
Bickerstaff Brainstem Encephalitis	Ptosis, Mydriasis, Anisocoria	ORPHA:79138
B4Galt1-Cdg	Wide nasal bridge, Redundant neck skin, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malfor...	ORPHA:79332
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Hip contracture, Hyperextensibility of the finger joints, Slender f...	OMIM:619503
Autosomal Dominant Robinow Syndrome	Low-set ears, Onychogryposis of fingernail, Finger syndactyly, Elbow dislocation, Hearing impairm...	ORPHA:3107
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of finger, Optic disc hypoplasia, Epiphyseal stippling of toe phalanges, Epi...	ORPHA:79345
Trichothiodystrophy	Aplasia/Hypoplasia of the nails, Cardiomyopathy, Umbilical hernia, Bilateral microphthalmos, Ridg...	ORPHA:33364
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Crumpled ear, Conductive hearing impairment, Atriov...	OMIM:600373
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Hearing impairment, Aspiration pneumonia, Abnormal toenail morphology, Sensorineural ...	ORPHA:444077
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Talipes equinovarus, Pes cavus, Knee flexion contracture, Intrinsic hand muscle atrophy	OMIM:615490
Pagod Syndrome	Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnorma...	ORPHA:991
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Low-set ears, Radial bowing, Long ear, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Hum...	OMIM:276820
Atelosteogenesis Type I	Rhizomelia, Talipes equinovarus, Limb undergrowth, Multiple renal cysts, Brachydactyly, Short lon...	ORPHA:1190
Melanosis, Neurocutaneous	Death in infancy, Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation	ORPHA:1110
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Ureteral stenosis, Anteverted nares, Abnormal thumb morphology, Arachnoda...	ORPHA:2719
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes	OMIM:615896
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Ptosis, Orthostatic hypotension, Urinary incontinence, Urinary urgency	OMIM:146500
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal femoral torsion, Retinal coloboma, Tibial torsion, Bifid u...	ORPHA:500095
Agnathia-Otocephaly Complex	Low-set ears, Conductive hearing impairment, Secundum atrial septal defect, Situs inversus totali...	OMIM:202650
Superficial Siderosis	Subarachnoid hemorrhage, Anisocoria, Functional abnormality of the bladder, Internal hemorrhage	ORPHA:247245
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Abnormal helix morphology, Small nail, Hearing impairment, Mitral regurgitation, Se...	OMIM:614866
Fanconi Anemia, Complementation Group R	Absent thumb, Hydrocephalus, Radial dysplasia, Microphthalmia	OMIM:617244
Kyphomelic Dysplasia	Depressed nasal bridge, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Fe...	OMIM:211350
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Cerebral cortical atrophy, Depressed nasal ridge, Anteverted nares, Death in infancy, Agenesis of...	ORPHA:847
Trichohepatoenteric Syndrome 2	Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair	OMIM:614602
Down Syndrome	Conductive hearing impairment, Sandal gap, Secundum atrial septal defect, Umbilical hernia, Tetra...	ORPHA:870
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Conductive hearing impairment, Finger syndactyly, Short tibia, Complete...	ORPHA:2751
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Khan-Khan-Katsanis Syndrome	Cerebellar vermis hypoplasia, Renal hypoplasia, Ventriculomegaly, Clinodactyly, Vesicoureteral re...	OMIM:618460
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Small hand, Optic nerve hypoplasia, Secundum atrial septal defect, Hearing impairment, Finger cli...	OMIM:620455
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Low-set ears, Hearing impairment, Patent foramen ovale, Ventricular septal defect, Death in infan...	OMIM:208085
Spondyloepiphyseal Dysplasia Congenita	Cervical myelopathy, Delayed pubic bone ossification, Limited elbow movement, Talipes equinovarus...	OMIM:183900
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa...	OMIM:620135
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Short nose	ORPHA:90653
Pettigrew Syndrome	Cerebellar vermis hypoplasia, Ventriculomegaly, Basal ganglia calcification, Cerebral calcificati...	OMIM:304340
Basal Cell Nevus Syndrome 2	Palmar pits, Plantar pits, Calcification of falx cerebri, Hydrocephalus, Frontal bossing	OMIM:620343
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Anophthalmia, Sensorineural hearing impairment, Pulmonary...	OMIM:615636
Galloway-Mowat Syndrome 3	Low-set ears, Downslanted palpebral fissures, Arachnodactyly, Epicanthus, Microphthalmia, Camptod...	OMIM:617729
Snijders Blok-Campeau Syndrome	Low-set ears, Umbilical hernia, Perimembranous ventricular septal defect, Atrial septal defect, P...	OMIM:618205
Musculocontractural Ehlers-Danlos Syndrome	Slender finger, Ventriculomegaly, Functional abnormality of the bladder, Horseshoe kidney, Redund...	ORPHA:2953
Macs Syndrome	Alopecia, Sparse eyebrow, Umbilical hernia, Single transverse palmar crease, Brachydactyly, Spars...	OMIM:613075
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Hydronephrosis, Talipes equinovarus, Congenital posterio...	OMIM:100100
Mowat-Wilson Syndrome	Cataract, Microcornea, Hypospadias, Chorioretinal coloboma, Ectopia pupillae, Downslanted palpebr...	OMIM:235730
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Cerebral calcification, Genu valgum, Anteverted nares,...	ORPHA:560
Bruck Syndrome 2	Hydroxyprolinuria, Elbow flexion contracture, Femoral bowing, Knee flexion contracture, Talipes e...	OMIM:609220
Optic Atrophy 11	Leukoencephalopathy, Ventriculomegaly, Cerebellar hypoplasia, Microcephaly, Bilateral talipes equ...	OMIM:617302
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Severe sensorineural hearing impairment, Hip dislocation, Sparse scalp hair	ORPHA:2003
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
Arboleda-Tham Syndrome	Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr...	OMIM:616268
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Melanocytic nevus, Abnormality of retinal pigmentation, Ptosis, Multiple cafe-...	ORPHA:1969
Auriculocondylar Syndrome	Abnormality of the crus of the helix, Hearing impairment, Question mark ear, Aplasia/Hypoplasia o...	ORPHA:137888
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle...	OMIM:617168
Obesity And Hypopigmentation	Red hair	OMIM:620195
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Gabriele-De Vries Syndrome	Low-set ears, Sparse eyebrow, Sandal gap, Frontal upsweep of hair, Patent foramen ovale, Simple e...	OMIM:617557
Mucopolysaccharidosis Type 1	Depressed nasal bridge, Abnormal epiphysis morphology, Thick nasal alae, Abnormal hip bone morpho...	ORPHA:579
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Pontocerebellar Hypoplasia, Type 2E	Ventriculomegaly, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Mi...	OMIM:615851
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short 5th finger, Low-set ears, Short thumb, Short finger, Single transverse palmar crease, Hypop...	OMIM:619522
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Delayed eruption of teeth, Ureteral stenosi...	OMIM:309350
Robinow Syndrome	Low-set ears, Small nail, Ventricular septal defect, Atrial septal defect, Mesomelic arm shorteni...	ORPHA:97360
Orofaciodigital Syndrome V	Postaxial foot polydactyly, Sandal gap, Downslanted palpebral fissures, Horseshoe kidney, Postaxi...	OMIM:174300
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar vermis hypoplasia, Depressed nasal bridge, Slender long bone, Cerebral atrophy, Hypopl...	OMIM:618590
Developmental And Epileptic Encephalopathy 18	Aortic regurgitation, Highly arched eyebrow, Atrial septal defect	OMIM:615476
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Renal tubular acidosis, Hypoplasia of t...	OMIM:613457
Ctcf-Related Neurodevelopmental Disorder	Highly arched eyebrow, Cupped ear, Prominent fingertip pads, Sandal gap, Hypertrichosis, Low-set,...	ORPHA:363611
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Turricephaly, Bowing of the long bones, Communicating...	ORPHA:2050
Warburg Micro Syndrome 4	Microphthalmia, Hirsutism, Ptosis, Low anterior hairline	OMIM:615663
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Underdeveloped nasal alae, Secondary microcephaly, Anteverted nares, Prom...	OMIM:300912
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Glandular hypospadia...	ORPHA:2473
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p...	OMIM:300106
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Single transverse palmar crease, Microphthalmia	OMIM:619053
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Fetal Akinesia Deformation Sequence 1	Slender long bone, Stillbirth, Camptodactyly of finger, Small placenta, Ulnar deviation of the ha...	OMIM:208150
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Bilateral single transverse palmar creases, Abnormal metacarpal morphology, Large h...	ORPHA:2636
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Hypoplasia of the fovea, Fr...	ORPHA:79431
Dyskeratosis Congenita	Alopecia, Palmoplantar keratoderma, Hypopigmented skin patches, Coarse metaphyseal trabecularizat...	ORPHA:1775
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Frontal bossing, Penile freckling, Cutis laxa, Biparietal narrowing, Shor...	OMIM:605309
Floating-Harbor Syndrome	Low-set ears, Broad thumb, Recurrent otitis media, Low posterior hairline, Atrial septal defect, ...	OMIM:136140
1Q44 Microdeletion Syndrome	Ventriculomegaly, Frontal bossing, Horseshoe kidney, Vesicoureteral reflux, Agenesis of corpus ca...	ORPHA:238769
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Polysyndactyly of hallux, Lateral ventricle dilatation, Postaxial p...	OMIM:263520
Congenital Myopathy 11	Atrial septal defect, Patent foramen ovale	OMIM:619967
Scarf Syndrome	Umbilical hernia, Low-set, posteriorly rotated ears, Low posterior hairline, Short sternum, Hypop...	ORPHA:3134
Monosomy 22	Finger syndactyly, Low-set, posteriorly rotated ears, Single transverse palmar crease, Epicanthus...	ORPHA:96123
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Sensorineural hearing impairment, Uplifted earlobe, Sparse ...	OMIM:619841
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Small hand, Broad nasal tip, Ventriculomegaly, Clinodactyly, Cerebral atr...	OMIM:309590
Trichohepatoneurodevelopmental Syndrome	Plagiocephaly, Cerebral atrophy, Bulbous nose, Overlapping toe, Fibular bowing, Absent Achilles r...	OMIM:618268
Fanconi Anemia, Complementation Group B	Bilateral radial aplasia, Ventriculomegaly, Absent thumb, Hypoplasia of the corpus callosum, Deat...	OMIM:300514
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:2907
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral renal agenesis, Sparse eyebrow, Optic atrophy, Absent thumb, Slender long bone, Downsl...	ORPHA:500150
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Low-set ears, Broad thumb, Ventricular septal defect, Arachnodactyly, Abnormally folded helix, At...	OMIM:309520
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Highly arched eyebrow, Atrial septal defect, Congestive heart failure	ORPHA:500533
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Cystic pattern on pulmonary HRCT, Ventricular septal defect, Cholesteatoma, Atrial s...	OMIM:610978
Trichorhinophalangeal Syndrome, Type Ii	Low-set ears, Hearing impairment, Recurrent otitis media, Bicuspid aortic valve, Sparse hair, Con...	OMIM:150230
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Morgagni diaphragmatic hernia, Umbilical hernia, Inguinal h...	OMIM:613177
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ...	ORPHA:1880
Scarf Syndrome	Low-set ears, Umbilical hernia, Low anterior hairline, Low posterior hairline, Short sternum, Hyp...	OMIM:312830
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent nipple, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eyelashes, Hypo...	OMIM:614941
Hypoplastic Left Heart Syndrome	Hypoplastic aortic arch, Patent ductus arteriosus	ORPHA:2248
Pituitary Apoplexy	Mydriasis, Hypotension, Ptosis, Hypertension	ORPHA:95613
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614432
Coffin-Lowry Syndrome	Bifid sternum, Ventriculomegaly, Thick nasal septum, Broad columella, Thick nasal alae, Anteverte...	OMIM:303600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Patent ductus arteriosus	OMIM:614080
Lateral Meningocele Syndrome	Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Umbilical he...	ORPHA:2789
Transaldolase Deficiency	Low-set ears, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Atrial septal defe...	OMIM:606003
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Short distal phalanx of finger, Renal hypoplasia, Broad nasal tip, Depressed n...	OMIM:617157
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Recurrent otitis media, Mitral a...	OMIM:620570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Hydrocephalus, Atrial...	OMIM:253800
Peters Plus Syndrome	Hypoplastic left heart, Rhizomelia, Toe syndactyly, Microtia, second degree, Short toe, Micromeli...	ORPHA:709
Kinsship Syndrome	Mesomelia, Renal hypoplasia, Ventriculomegaly, Horseshoe kidney, Bulbous nose, Single transverse ...	OMIM:619297
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse eyebrow, Sandal gap, Tricuspid regurgitation, Decreased fibular diameter, Dysplasia of the...	OMIM:619127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Increased variability in muscle fiber diameter, Muscular dystrophy, Microphthalmia	OMIM:616538
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ...	OMIM:123500
Cog1-Cdg	Rhizomelia, Low-set, posteriorly rotated ears, Talipes equinovarus, Pulmonary arterial hypertensi...	ORPHA:263508
Loeys-Dietz Syndrome 5	Overhanging nasal tip, Prominent nasal bridge, Arachnodactyly, Talipes equinovarus, Brachycephaly...	OMIM:615582
Cutis Laxa, Autosomal Recessive, Type Iiib	Fine hair, Prominent ear helix, Elbow flexion contracture, Sparse hair, Posteriorly rotated ears,...	OMIM:614438
9q subtelomeric deletion syndrome	Microcephaly, Anteverted nares, Short nose	DECIPHER:52
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Tetrasomy 12P	Anteverted nares, Frontal bossing, Delayed eruption of teeth, Short nose	ORPHA:884
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum, Talipes equinovarus, Hallux valgus, Pes planus, Hip dislocation, Hyperexten...	OMIM:617821
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Umbilical hernia, Tetralogy of Fallot, Congenital diaphragmatic hernia, ...	ORPHA:2255
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Talipes equinovarus	OMIM:151800
Rothmund-Thomson Syndrome Type 1	Sparse hair, Hypopigmentation of the skin, Patellar hypoplasia, Alopecia totalis, Metaphyseal scl...	ORPHA:221008
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Olmsted Syndrome 2	Alopecia universalis, Palmoplantar keratoderma, Woolly hair, Palmoplantar hyperkeratosis, Sparse ...	OMIM:619208
Prader-Willi Syndrome	Small hand, Radial deviation of finger, Clinodactyly, Genu valgum, Frontal upsweep of hair, Upsla...	OMIM:176270
Myopathy, Myofibrillar, 7	Enuresis nocturna, Shoulder flexion contracture, Elbow flexion contracture, Pes cavus, Talipes eq...	OMIM:617114
Mast Cell Sarcoma	Hypoplasia of the ear cartilage	ORPHA:66661
Congenital Myopathy 22B, Severe Fetal	Leukoencephalopathy, Wide nasal bridge, Tapered toe, Shoulder flexion contracture, Slender long b...	OMIM:620369
Rett Syndrome, Congenital Variant	Depressed nasal bridge, Bulbous nose, Hypoplasia of the corpus callosum, Talipes equinovarus, Pro...	OMIM:613454
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Palmoplantar keratoderma, Sensorineural hearing impairment, Sparse hair, Fragile nails	OMIM:242150
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Coronal craniosynostosis, Turricephaly, Hydrocephalus, Narrow iliac ...	OMIM:616294
Dyskeratosis Congenita, Autosomal Dominant 1	Sparse hair, Alopecia, Premature graying of hair, Budd-Chiari syndrome, Ridged nail, Interstitial...	OMIM:127550
Schimmelpenning-Feuerstein-Mims Syndrome	Horseshoe kidney, Hemimegalencephaly, Hyperphosphaturia, Coloboma, Cranial asymmetry, Abnormal fi...	OMIM:163200
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Flared metaphysis, Optic disc pallor, Hip subluxation	OMIM:259720
Wildervanck Syndrome	Low posterior hairline, Congenital sensorineural hearing impairment, Meningocele	ORPHA:3456
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Hand muscle atrophy, Ventricular septal defect, Arach...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Hand muscle atrophy, Ventricular septal defect, Arach...	ORPHA:363958
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Broad toe, Dislocated radial ...	OMIM:180700
Arachnoid Cyst	Mydriasis, Urinary bladder sphincter dysfunction, Subarachnoid hemorrhage, Ptosis, Urinary incont...	ORPHA:2356
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Melanocytic Nevus Syndrome, Congenital	Narrow nasal ridge, Anteverted nares, Broad nasal tip, Short nose	OMIM:137550
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Secundum atrial septal defect, Atresia of the external auditory canal,...	OMIM:612562
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Long eyelashes, H...	ORPHA:505248
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Coffin-Siris Syndrome 12	Low-set ears, Broad thumb, Small nail, Sensorineural hearing impairment, Radioulnar synostosis, N...	OMIM:619325
Infantile Nephropathic Cystinosis	Aminoaciduria, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Glycosuria, ...	ORPHA:411629
Lateral Meningocele Syndrome	Low-set ears, Coarse hair, Conductive hearing impairment, Umbilical hernia, Ventricular septal de...	OMIM:130720
Sclerosteosis 1	Wide nasal bridge, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Deviation of f...	OMIM:269500
Pterygium Colli, Isolated	Short nose	OMIM:177990
Ogden Syndrome	Low-set ears, Torsade de pointes, Recurrent otitis media, Ventricular septal defect, Pulmonary ed...	OMIM:300855
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Ventriculomegaly, Basal ganglia calcification, Cerebral calcificati...	OMIM:617281
Rothmund-Thomson Syndrome	Sparse eyebrow, Aplasia/Hypoplasia of the radius, Hypopigmentation of the skin, Short thumb, Smal...	ORPHA:2909
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent otitis media, Sparse hair, Nail dystrophy, Recurrent sinusitis	ORPHA:98813
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def...	OMIM:610198
Renal-Hepatic-Pancreatic Dysplasia 2	Femoral bowing, Talipes equinovarus, Stillbirth, Enlarged kidney, Cystic renal dysplasia	OMIM:615415
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal d...	ORPHA:2519
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Bronchiectasis, Aspiration pneumonia	OMIM:618253
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Distal Deletion 15Q	Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ...	ORPHA:1596
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Elbow dislocation, Umbilical hernia, Camptodactyly of finger, Frontal bossing, ...	ORPHA:2462
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, Sensorineural ...	OMIM:617660
Congenital Syphilis	Large placenta, Palmoplantar scaling skin, Petechiae, Tibial bowing, Purpura, Hydrocephalus, Conc...	ORPHA:499009
Hermansky-Pudlak Syndrome 2	Low-set ears, Recurrent pneumonia, Fair hair, Ocular albinism, Recurrent otitis media, Acetabular...	OMIM:608233
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Increased axial length of the globe, Right aortic arch	ORPHA:513456
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Urinary incontinence, Talipes equinovarus, Camptodactyly of finger	OMIM:604320
Genitopatellar Syndrome	Multicystic kidney dysplasia, Patellar aplasia, Hip contracture, Agenesis of corpus callosum, Tal...	OMIM:606170
Vici Syndrome	Low-set ears, Dilated cardiomyopathy, Hypopigmentation of the skin, Cardiomyopathy, Congestive he...	OMIM:242840
Molybdenum Cofactor Deficiency, Type A	Decreased urinary urate, Increased urinary taurine, Ventriculomegaly, Cerebral atrophy, Increased...	OMIM:252150
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Palmoplantar keratoderma, Multiple muscular ventricular septal defects, Recurrent respiratory inf...	OMIM:615508
Sting-Associated Vasculopathy, Infantile-Onset	Sparse hair, Nail dystrophy, Telangiectasia, Nailfold capillary tortuosity, Raynaud phenomenon, R...	OMIM:615934
Intellectual Developmental Disorder, Autosomal Dominant 68	Broad hallux, Joint contracture of the 5th finger, Narrow palm, 2-3 toe syndactyly, Absent earlob...	OMIM:619934
Hartsfield Syndrome	Hypoplasia of the frontal bone, Semilobar holoprosencephaly, Alobar holoprosencephaly, Ectrodacty...	OMIM:615465
Prolidase Deficiency	Depressed nasal bridge, Skin ulcer, Petechiae, Hyperimidodipeptiduria, Concave nasal ridge, Short...	OMIM:170100
Charcot-Marie-Tooth Disease, Type 4D	Talipes cavus equinovarus, Pes cavus, Claw hand deformity, Hammertoe	OMIM:601455
Osteopetrosis, Autosomal Recessive 1	Flared metaphysis, Femur fracture, Hydrocephalus, Coxa vara, Craniosynostosis, Frontal bossing	OMIM:259700
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus, Aplasia/Hypoplasia of the cerebellum	ORPHA:588
Familial Multiple Lipomatosis	Ventriculomegaly, Cerebral calcification, Premature eruption of permanent teeth, Hypoplasia of th...	ORPHA:199276
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Broad nasal tip, Hypoplasia of the corpus callosum, Microcephaly, Short nose, ...	OMIM:614207
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Low-set ears, Toe syndactyly, Short finger, Dilatation of the ventricular cavity, Single transver...	ORPHA:459070
Wiedemann-Steiner Syndrome	Abnormal corpus callosum morphology, Wide nasal bridge, Rhizomelia, Clinodactyly, Microcephaly, T...	ORPHA:319182
Rothmund-Thomson Syndrome Type 2	Sparse hair, Hypopigmentation of the skin, Patellar hypoplasia, Alopecia totalis, Metaphyseal scl...	ORPHA:221016
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Depressed nasal bridge, Ketonuria, Umbilical hernia, Polymicrogyria, Syndactyly	OMIM:614520
Diets-Jongmans Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Interrupted inferior vena cava with azygous con...	OMIM:618846
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Secondary microcephaly, Ulnar deviation of the 2nd finger, Talipes equinovarus, Ulnar deviation o...	OMIM:616263
8P11.2 Deletion Syndrome	Anosmia, Depressed nasal bridge, Microcephaly, Talipes equinovarus, Hypoplasia of penis, Iris col...	ORPHA:251066
Coffin-Siris Syndrome 1	Low-set ears, Facial hypertrichosis, Dry hair, Sparse scalp hair, Hearing impairment, Hypoplastic...	OMIM:135900
Cutis Laxa, Autosomal Recessive, Type Iid	Low-set ears, Hypoplastic right heart, Congestive heart failure, Hypertrophic cardiomyopathy, Pro...	OMIM:617403
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Broad t...	ORPHA:79076
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid regurgitation, Muscular ventricular septal defect, Hypopla...	OMIM:212093
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Clinodactyly, Dry skin, Agenesis of corpus callosum, Talipes equinovarus, Large hand...	OMIM:264090
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Talipes equinovarus, Persistence of primary teeth, Recurrent upper respiratory tract infections	OMIM:619752
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Proteinuria, 2-3 toe syndactyly, Postaxial polydactyly, Postaxial hand...	OMIM:619471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose	OMIM:614069
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short distal phalanx of finger, Epistaxis, Epiphyseal stippling, Ecchymosis, Short nose	OMIM:277450
Osteogenesis Imperfecta, Type Xx	Low-set ears, Highly arched eyebrow, Crumpled ear, Sparse lateral eyebrow, Sparse hair, Posterior...	OMIM:618644
Agel Amyloidosis	Hearing impairment, Cardiomyopathy, Respiratory tract infection, Nail dystrophy, Orthostatic hypo...	ORPHA:85448
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida	OMIM:207950
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Narrow naris, Ulnar deviation of th...	OMIM:616145
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Highly arched eyebrow, Hearing impairment, Pulmonary arterial hypertension, Recurrent respiratory...	ORPHA:2282
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular noncompac...	OMIM:619167
Eisenmenger Syndrome	Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Clubbing, Bact...	ORPHA:97214
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Underdeveloped nasal alae, Death in infancy, Hydronephrosis, Microceph...	ORPHA:2315
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormality of the humeroulnar joint, Sparse body hair	ORPHA:2234
Omodysplasia 1	Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Short tibia, Limited knee flexion/extensio...	OMIM:258315
Joubert Syndrome 39	Postaxial polydactyly, Polycystic kidney dysplasia, Joint contracture of the 5th finger	OMIM:619562
Intellectual Developmental Disorder, X-Linked 112	Right aortic arch	OMIM:301111
Scorpion Envenomation	Mydriasis, Cardiogenic shock, Prominent U wave, Acute kidney injury, Glycosuria, Congestive heart...	ORPHA:466677
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Low-set, posteriorly rotated ears, Atrial septal defect, Brachydactyly, Ventricular septal defect	ORPHA:457193
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Cupped ear, Small nail, Hearing impairment, Nail dystrophy, Hypomelan...	OMIM:617052
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Abnormality of the ureter, Renal insufficiency, Vesicoure...	ORPHA:3027
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Hypoplasia of the fovea, Absent skin pigmentation, Blue irides, Albi...	OMIM:203100
Adenylosuccinase Deficiency	Cerebral atrophy, Elevated urinary succinylaminoimidazole carboxamide riboside level, Anteverted ...	OMIM:103050
Townes-Brocks Syndrome 2	Spina bifida occulta, Overfolded helix, Cupped ear, Microtia	OMIM:617466
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Microphthalmia	OMIM:273395
Schwartz-Jampel Syndrome	Elbow dislocation, Abnormality of the ureter, Genu valgum, Hip contracture, Bowing of the long bo...	ORPHA:800
Autosomal Dominant Dopa-Responsive Dystonia	Abnormal substantia nigra morphology, Pes cavus, Talipes equinovarus, Paresis of extensor muscles...	ORPHA:98808
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Hydroureter, Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydro...	OMIM:236700
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis	OMIM:620024
Lethal Congenital Contracture Syndrome 10	Overlapping fingers, Femoral bowing, Talipes equinovarus, Adducted thumb, Short long bone, Convex...	OMIM:617022
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Abnormal cornea morphology, Corne...	ORPHA:411634
Bruck Syndrome	Bowing of the long bones, Talipes equinovarus	ORPHA:2771
Ullrich Congenital Muscular Dystrophy 1A	Talipes equinovarus, Increased laxity of fingers, Hip dislocation, Increased laxity of ankles	OMIM:254090
Linear Skin Defects With Multiple Congenital Anomalies 3	Hyperpigmented streaks, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycar...	OMIM:300952
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Laing Early-Onset Distal Myopathy	Talipes cavus equinovarus, Abnormal calf musculature morphology, Toe extensor amyotrophy	ORPHA:59135
Potocki-Lupski Syndrome	Atrial septal defect, Hearing impairment, Patent foramen ovale	OMIM:610883
Infantile Liver Failure Syndrome 3	Talipes equinovarus, Abnormal acetabulum morphology, Death in childhood, Abnormality of the epiph...	OMIM:618641
Alpha-Mannosidosis, Infantile Form	Cerebral cortical atrophy, Depressed nasal bridge, Oligosacchariduria, Cranial hyperostosis, Umbi...	ORPHA:309282
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Low-set ears, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal def...	OMIM:265380
Intellectual Developmental Disorder, Autosomal Recessive 72	Low-set ears, Secundum atrial septal defect, Posteriorly rotated ears, Macrotia	OMIM:618665
Griscelli Syndrome Type 2	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair	ORPHA:79477
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Broad foot, Agenesis of corpus callosum, Talipes equinovarus, 2-3 finger syndactyly,...	OMIM:312870
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Flared nostrils, Small hand, Overlapping toe, Hypoplasia of the corpus callosum,...	ORPHA:480880
Congenital Sialidosis Type 2	Polydactyly, Petechiae, Hydrocephalus, Umbilical hernia	ORPHA:93400
Osteoporosis-Pseudoglioma Syndrome	Cataract, Vitreoretinopathy, Tibial bowing, Iris atrophy, Absent anterior chamber of the eye, Exu...	OMIM:259770
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:614744
Syndromic Diarrhea	Aortic regurgitation, Peripheral pulmonary artery stenosis, Trichorrhexis nodosa, Abnormal heart ...	ORPHA:84064
Central Neurocytoma	Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Cornelia De Lange Syndrome 1	Elbow flexion contracture, Inguinal hernia, Hiatus hernia, Congenital diaphragmatic hernia	OMIM:122470
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia	OMIM:194080
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Alopecia, Small hypothenar eminence, Sparse pubic hair, Sparse eyebrow, Hearing impairment, Abnor...	ORPHA:2232
Geleophysic Dysplasia 1	Wide nasal bridge, Joint contracture of the hand, Cone-shaped epiphysis, Short metacarpals with r...	OMIM:231050
Hajdu-Cheney Syndrome	Iris coloboma, Foot acroosteolysis, Umbilical hernia, Anteverted nares, Genu valgum, Fibular bowi...	OMIM:102500
Houge-Janssens Syndrome 1	Congenital hip dislocation, Ventriculomegaly, Hydrocephalus	OMIM:616355
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation...	ORPHA:99104
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hearing impairment, Death in childhood, Microphthalmia	OMIM:301108
Acrocephalopolydactylous Dysplasia	Micromelia, Oxycephaly, Short nose, Postaxial hand polydactyly, Craniosynostosis, Enlarged kidney...	OMIM:200995
Lymphedema-Distichiasis Syndrome	Yellow nails, Chylothorax, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Distichias...	OMIM:153400
Kabuki Syndrome	Short 5th finger, Cerebral cortical atrophy, Small hand, Ventriculomegaly, Short middle phalanx o...	ORPHA:2322
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Depressed nasal bridge, Umbilical hernia, Genu valgum, Limited elbow extension, Broad long bone d...	OMIM:301066
Hermansky-Pudlak Syndrome 10	Low-set ears, Ocular albinism, Albinism, Abnormal pulmonary interstitial morphology, Recurrent re...	OMIM:617050
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Trigonocephaly, Abnormal periventricular white matter morphology, Cerebellar hypoplasia, Cerebral...	ORPHA:329178
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Neopl...	ORPHA:2908
Nephronophthisis 18	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Hydrocephalus	OMIM:615862
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Primary Ciliary Dyskinesia	Nasal polyposis, Ventriculomegaly, Nasal congestion, Chronic rhinitis, Hydrocephalus, Clubbing	ORPHA:244
Chondrodysplasia Punctata, Autosomal Dominant	Epiphyseal stippling, Hip contracture, Knee flexion contracture, Talipes equinovarus, Hypoplasia ...	OMIM:118650
Gapo Syndrome	Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Eruption failure, Umbilical hernia, Ante...	OMIM:230740
Transaldolase Deficiency	Telangiectasia, Biventricular hypertrophy, Atrial septal defect	ORPHA:101028
Faciocardiomelic Syndrome	Slender long bone, Telecanthus, Hypoplastic pelvis, Polydactyly, Ptosis, Short eyelashes	OMIM:612731
Alternating Hemiplegia Of Childhood	Mydriasis, Cardiomyopathy, Abnormal T-wave, Thin eyebrow, Cardiac conduction abnormality, Arrhythmia	ORPHA:2131
Cerebrofaciothoracic Dysplasia	Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Ventriculomegaly, Hypoplasia of the corp...	ORPHA:1394
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Prominent antihelix, Secundum atrial septal defect, Low anterior hairline,...	OMIM:615802
Glycogen Storage Disease Iv	Talipes equinovarus, Tubulointerstitial fibrosis	OMIM:232500
Schinzel-Giedion Syndrome	Abnormality of the ureter, Overlapping toe, Overlapping fingers, Hypoplasia of the corpus callosu...	ORPHA:798
Rabin-Pappas Syndrome	Wide nasal bridge, Broad nasal tip, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Ce...	OMIM:620155
Phace Syndrome	Aortic root aneurysm, Tetralogy of Fallot, Abnormal cerebral artery morphology, Coarctation of ao...	ORPHA:42775
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Epistaxis, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Card...	ORPHA:79430
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Brachyturricephaly, Equinus calcaneus, 2-3 toe syndactyly, Prominent nasal tip, Pes valgus, Bilat...	ORPHA:522077
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Frontal bossing, Short ...	OMIM:266810
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Linear Nevus Sebaceus Syndrome	Alopecia, Irregular hyperpigmentation, Telecanthus, Melanocytic nevus, Microphthalmia	ORPHA:2612
Pancreatic And Cerebellar Agenesis	Low-set ears, Secundum atrial septal defect, Overlapping fingers, Death in infancy, Abnormal pinn...	OMIM:609069
Loeys-Dietz Syndrome 4	Striae distensae, Arachnodactyly, Talipes equinovarus, Pes planus, Cutis laxa, Dolichocephaly, Pr...	OMIM:614816
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Plagiocephaly, Broad nasal tip, Wide nose,...	ORPHA:1521
Japanese Encephalitis	Genu recurvatum, Increased CSF protein concentration, Distal upper limb muscle weakness, Abnormal...	ORPHA:79139
Krabbe Disease	Diffuse cerebral atrophy, Increased CSF protein concentration, Hydrocephalus	OMIM:245200
Kabuki Syndrome 1	Short 5th finger, Congenital hip dislocation, Sparse eyebrow, Highly arched eyebrow, Prominent ey...	OMIM:147920
Aortic Valve Disease 3	Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect	OMIM:618496
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebral cortical atrophy, Ventriculomegaly, Long foot, Prominent nasal bridge, Arachnodactyly, P...	OMIM:617011
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular sept...	ORPHA:26793
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale, Shoulder girdle muscle weakness	OMIM:615156
Phakomatosis Pigmentokeratotica	Hemiatrophy, Melanocytic nevus, Patchy alopecia, Arrhythmia, Raynaud phenomenon, Spina bifida	ORPHA:2874
Maternal Uniparental Disomy Of Chromosome 2	Abnormality of the ankle, Preaxial hand polydactyly, Renal insufficiency, Chordee, Pes planus, Cl...	ORPHA:96179
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Finger syndactyly, Cone/cone-ro...	ORPHA:110
Restrictive Dermopathy 1	Low-set ears, Sparse eyebrow, Rocker bottom foot, Short nail, Stillbirth, Overtubulated long bone...	OMIM:275210
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation	OMIM:616353
Otodental Syndrome	Abnormal dental enamel morphology, Lens coloboma, Microphthalmia	ORPHA:2791
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, High anterior hairline, Short thumb, Supernumerary nipple, Hypertrichosis, Hypopl...	ORPHA:477993
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Diamond-Blackfan Anemia 8	Wide nasal bridge, Short nose	OMIM:612563
Cardiospondylocarpofacial Syndrome	Low-set ears, Cone-shaped epiphysis, Conductive hearing impairment, Carpal synostosis, Recurrent ...	OMIM:157800
Tenorio Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Anteverted nares, Hydrocephalus, Cavum septum pelluc...	OMIM:616260
Blomstrand Lethal Chondrodysplasia	Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Natal tooth, Abnormal epiphysis morphology, F...	ORPHA:50945
Odontoonychodermal Dysplasia	Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai...	OMIM:257980
Arterial Tortuosity Syndrome	Rocker bottom foot, Short nose, Avascular necrosis of the capital femoral epiphysis, Redundant sk...	ORPHA:3342
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Slender finger, Secundum atrial septal defect, Hearing impairment, Tibial torsion, Talipes equino...	OMIM:613355
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Knee flexion contracture, Agenesis of corpus call...	OMIM:618733
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Nephrocalcinosis, Broad nasal tip, Broad columella, Narrow naris, Overlapping toe...	OMIM:617402
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	2-3 toe cutaneous syndactyly, Low-set ears, 2-4 toe cutaneous syndactyly, Short ear, Long eyelash...	OMIM:614756
Sacral Defect With Anterior Meningocele	Urinary retention, Myelomeningocele, Myeloschisis, Neurogenic bladder, Hydrocephalus, Bilateral t...	OMIM:600145
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Cerebellar vermis hypoplasia, Posterior plagiocephaly, Broad nasal tip, Wide na...	OMIM:620330
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Wrinkly Skin Syndrome	Wide nasal bridge, Congenital hip dislocation, Delayed eruption of teeth, Slender long bone, Umbi...	OMIM:278250
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Premature graying of hair, Abnormal hair morph...	ORPHA:79474
Cole-Carpenter Syndrome 1	Coronal craniosynostosis, Orbital craniosynostosis, Hydrocephalus, Communicating hydrocephalus, F...	OMIM:112240
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Atrial septal defect, Single transverse palmar crease, Umbili...	OMIM:618354
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Keratoconus, Hypospadias, Transient ischemic attack, Abnormal pupil m...	ORPHA:286
Sim1-Related Prader-Willi-Like Syndrome	Small hand, Hypopigmentation of the skin, Hypogonadism, Almond-shaped palpebral fissure, Primary ...	ORPHA:398079
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent foramen ovale, Pulmonary hypoplasia	OMIM:616867
Poikiloderma With Neutropenia	Depressed nasal bridge, Palmoplantar keratoderma, Underdeveloped nasal alae, Recurrent sinusitis,...	OMIM:604173
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG	OMIM:178650
Atrial Septal Defect 9	Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect	OMIM:614475
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Ventriculomegaly, Umbilical hernia, Short columella, Ecchymosis, Hydronephrosis, Talipes equinova...	OMIM:601776
Hermansky-Pudlak Syndrome 5	Epistaxis, Albinism, Ocular albinism, Hypoplasia of the fovea, Iris transillumination defect	OMIM:614074
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Hypoplasia of the pons, Polymicrogyria, Overlapping fingers, Knee flexion contracture, Cerebellar...	OMIM:619708
Mosaic Monosomy X	Low-set ears, Hearing impairment, Recurrent otitis media, Genu valgum, Low posterior hairline, Bi...	ORPHA:99228
Monosomy X	Low-set ears, Hearing impairment, Recurrent otitis media, Genu valgum, Low posterior hairline, Bi...	ORPHA:99226
Turner Syndrome	Low-set ears, Hearing impairment, Recurrent otitis media, Genu valgum, Low posterior hairline, Bi...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Hearing impairment, Recurrent otitis media, Genu valgum, Low posterior hairline, Bi...	ORPHA:99413
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Agenesis of corpus callosum, Microcephaly, Short nose	ORPHA:261144
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Chorioretinal coloboma, Genu valgum, Hematuria, Talipes equinovarus, Iris coloboma, Hypospadias, ...	OMIM:619475
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Secundum atrial septal defect,...	OMIM:614868
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Abnormality of the anterior commissure, Hypoplasia of the pons, Agenesis of corpus...	OMIM:617542
Cockayne Syndrome A	Pigmentary retinopathy, Dry hair, Square pelvis bone, Retinal pigment epithelial mottling, Abnorm...	OMIM:216400
Doors Syndrome	Wide nasal base, Equinovarus deformity, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnor...	ORPHA:79500
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Loeys-Dietz Syndrome 2	Dermal translucency, Joint contracture of the hand, Umbilical hernia, Striae distensae, Absent di...	OMIM:610168
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
46,Xy Sex Reversal 4	Recurrent otitis media, Microtia, Sensorineural hearing impairment	OMIM:154230
Noonan Syndrome 1	Low-set ears, Chylothorax, Clinodactyly, Radial deviation of finger, Hearing impairment, Hypertro...	OMIM:163950
Hb Bart'S Hydrops Fetalis	Pallor, Hydrocephalus	ORPHA:163596
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Abnormality iris morphology, Transient ischemic attack, Ischemic stroke, Ar...	ORPHA:91387
Bohring-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Urinary retention, Trigonocephaly, A...	ORPHA:97297
Hermansky-Pudlak Syndrome 8	Silver-gray hair, Epistaxis, Ocular albinism, Hypoplasia of the fovea, Iris transillumination def...	OMIM:614077
Epidermolysis Bullosa Simplex With Pyloric Atresia	Scarring alopecia of scalp, Nail dystrophy, Microtia	ORPHA:158684
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Ulnar deviation of the hand, Short nose, Narrow naris	OMIM:122880
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Bilateral Polymicrogyria	Aplasia/Hypoplasia of the cerebral white matter, Ventriculomegaly, Aplasia/Hypoplasia of the brai...	ORPHA:268940
Neurofibromatosis-Noonan Syndrome	Low-set ears, Inguinal freckling, Secundum atrial septal defect, Low posterior hairline, Cubitus ...	OMIM:601321
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Hearing impairment, Aplasia of the inner ear, Sensorineural hearing impairment, Synophrys, Microtia	ORPHA:90024
Viss Syndrome	Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tortuosity, Dila...	OMIM:619472
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Umbilical hernia, Elbow flexion contracture, Trigonocephaly, Talipes equinovarus, Congenital bila...	ORPHA:1900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Wide nasal bridge, Plagiocephaly, Underdeveloped nasal alae, Vesicoureteral reflux, Branchial ano...	ORPHA:453499
Neurodegeneration With Brain Iron Accumulation 2A	Frontal bossing, Cerebral atrophy, Short nose	OMIM:256600
Craniolenticulosutural Dysplasia	High iliac wing, Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Br...	ORPHA:50814
47,Xyy Syndrome	Micropenis, Hypospadias, Hydrocephalus, Finger clinodactyly	ORPHA:8
Xeroderma Pigmentosum, Complementation Group B	Pigmentary retinopathy, Hypogonadism, Sensorineural hearing impairment, Freckling, Microphthalmia	OMIM:610651
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Arrhythmia, Absent radius, Short ...	OMIM:181450
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Depressed nasal bridge, Nephrocalcinosis, Broad distal phalanx of finger, Delayed eruption of tee...	OMIM:300990
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital hyperpigmentation, Sparse eyebrow, Sparse hair, Sparse eyelashes	OMIM:224900
Neu-Laxova Syndrome	Micromelia, Abnormal hair morphology, Spina bifida, Large hands, Abnormal eyelash morphology, Mac...	ORPHA:2671
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Hermansky-Pudlak Syndrome 6	Epistaxis, Recurrent upper respiratory tract infections, Hypopigmentation of the skin, Hearing im...	OMIM:614075
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Spontaneo...	OMIM:214500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Red-brown urine, Ventriculomegaly, Polymicrogyria, Intracerebral pe...	ORPHA:228308
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Low-set ears, Atrial septal defect, Ventricular septal defect	ORPHA:261190
Biliary, Renal, Neurologic, And Skeletal Syndrome	Low-set ears, Unbalanced atrioventricular canal defect, Broad thumb, Hearing impairment, Ventricu...	OMIM:619534
Magel2-Related Prader-Willi-Like Syndrome	Small hand, Hypopigmentation of the skin, Atrial septal defect, Hip dysplasia, Recurrent respirat...	ORPHA:398069
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Wide nasal bridge, Slender finger, Renal hypoplasia, Depressed nasal bridge, Clinodactyly, Radial...	OMIM:309580
Choanal Atresia	Craniosynostosis, Nasal congestion, Polydactyly	ORPHA:137914
Menkes Disease	Gastrointestinal hemorrhage, Umbilical hernia, Intracranial hemorrhage, Bowing of the long bones,...	ORPHA:565
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Congenital hip dislocation,...	OMIM:225400
Ebstein Anomaly	Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept...	OMIM:224700
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Inguinal freckling, Hypertrophic cardiomyopathy, Abnormal tibia morphology, Abnormal heart morpho...	ORPHA:363700
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Frontal bossing, Short nose	OMIM:613038
Okamoto Syndrome	Aortic valve stenosis, Low-set ears, Facial hypertrichosis, Abnormal helix morphology, Abnormally...	ORPHA:2729
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b...	ORPHA:56305
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Portal hypertension, Sparse eyelashes, Thick hair, Sparse hair	OMIM:607626
Plasminogen Deficiency, Type I	Nephritis, Recurrent upper respiratory tract infections, Ventriculomegaly, Nephrolithiasis, Cereb...	OMIM:217090
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Red-brown urine, Polymicrogyria, Cerebral calcification, Abnormal b...	ORPHA:157
Noonan Syndrome 3	Low-set ears, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Pate...	OMIM:609942
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Camptodactyly of finger, Ab...	ORPHA:2461
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra...	OMIM:108800
Ifap Syndrome 2	Atrichia, Sparse hair, Nail dystrophy	OMIM:619016
Hennekam Syndrome	Low-set ears, Chylothorax, Finger syndactyly, Conductive hearing impairment, Camptodactyly of fin...	ORPHA:2136
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect	OMIM:619881
Hydrocephaly-Low Insertion Umbilicus Syndrome	Long nose, Communicating hydrocephalus, Wide nose	ORPHA:2184
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Pallister-Killian Syndrome	Aortic valve stenosis, Hyperpigmented streaks, Small hand, Postaxial foot polydactyly, Sparse sca...	OMIM:601803
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Renal agenesis, Rudimentary fibula, Aplasia of the bladder,...	OMIM:200980
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Aicardi Syndrome	Small hand, Sparse lateral eyebrow, Abnormality of retinal pigmentation, Protruding ear, Abnormal...	ORPHA:50
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormal hip bone morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus	ORPHA:2720
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar...	ORPHA:2307
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Cor triatriatum, Recurrent upper respiratory tract infections, Broad thumb, Secundum atrial septa...	OMIM:612541
Proteus Syndrome	Low-set ears, Pulmonary cyst, Finger syndactyly, Exostosis of the external auditory canal, Genera...	ORPHA:744
22Q11.2 Duplication Syndrome	Tetralogy of Fallot, Interrupted aortic arch, Transposition of the great arteries	ORPHA:1727
Legius Syndrome	Male urethral meatus stenosis, Xanthelasma, Polydactyly, Nephrolithiasis, Clinodactyly of the 5th...	ORPHA:137605
Intellectual Developmental Disorder, X-Linked 21	Short nose	OMIM:300143
Culler-Jones Syndrome	Micropenis, Postaxial polydactyly	OMIM:615849
Subependymal Nodular Heterotopia	Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele	ORPHA:101030
Renal Hypodysplasia/Aplasia 1	Proteinuria, Talipes equinovarus	OMIM:191830
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Low-set ears, Broad thumb, Sensorineural hearing impairment, Ventricular s...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Low-set ears, Broad thumb, Sensorineural hearing impairment, Ventricular s...	ORPHA:353277
Autosomal Recessive Spastic Paraplegia Type 55	Talipes equinovarus, Tibialis muscle weakness, Hypoplasia of the corpus callosum, Focal white mat...	ORPHA:320375
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Downslanted palpebral fissures, Horseshoe kidney, Postaxial polydactyly, E...	OMIM:617088
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Multicystic kidney dysplasia, Dilated cardiomyopathy, Abnormal cor...	ORPHA:79404
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Patent foramen ovale, Sensorineural hearing impairment, Ventricular septal d...	ORPHA:209905
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Short distal phalanx of finger, Acroosteolysis of distal phalanges...	ORPHA:90154
Lethal Congenital Contracture Syndrome 9	Depressed nasal bridge, Joint contracture of the hand, Anteverted nares, Short umbilical cord, Ta...	OMIM:616503
Focal Facial Dermal Dysplasia Type Iv	Microcephaly, Hydrocephalus	ORPHA:398189
Osteogenesis Imperfecta	Abnormal tibia morphology, Genu valgum, Bowing of the long bones, Diaphyseal undertubulation, Dis...	ORPHA:666
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Hypospadias, Hydrocephalus, Umbilical hernia	OMIM:601499
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Formiminoglutamic Aciduria	Atrial septal defect	ORPHA:51208
Developmental And Epileptic Encephalopathy 90	Atrial septal defect	OMIM:301058
Cadds	Ventriculomegaly, Abnormal cerebral white matter morphology, Short nose	ORPHA:369942
Proximal Spinal Muscular Atrophy	Distal upper limb muscle weakness, Elbow flexion contracture, Triceps weakness, Recurrent infecti...	ORPHA:70
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Death in infancy	OMIM:600559
Griscelli Syndrome	Hydrocephalus, Encephalocele, Pedal edema	ORPHA:381
Restrictive Dermopathy	Low-set ears, Sparse eyebrow, Short nail, Camptodactyly of finger, Small placenta, Large placenta...	ORPHA:1662
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Depressed nasal bridge, Renal hypoplasia, Ventriculomegaly, Abnormal pelvis bone ossification, Mi...	ORPHA:93271
H Syndrome	Chronic rhinitis, Hallux valgus, Camptodactyly, Hydrocephalus, Pes planus, Recurrent pharyngitis,...	ORPHA:168569
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Dend Syndrome	Anteverted nares, Clinodactyly of the 4th finger, Short nose	ORPHA:79134
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology,...	ORPHA:163746
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria, Ventriculomegaly, T2 hypointense basal ganglia, Open o...	ORPHA:25
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Sensorineural hearing impairment, Broad eyebrow, Atrial septal defect, Sac...	ORPHA:457351
Kyphoscoliotic Ehlers-Danlos Syndrome	Congenital hip dislocation, Umbilical hernia, Knee dislocation, Abnormal foot morphology, Arachno...	ORPHA:536545
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Recurrent otitis media, Absent earlobe, Sparse hair, Hypoplastic ilia, Hearing abno...	ORPHA:3455
Meckel Syndrome, Type 7	Aortic valve stenosis, Postaxial foot polydactyly, Portal hypertension, Situs inversus totalis, A...	OMIM:267010
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	2-3 toe cutaneous syndactyly, Secundum atrial septal defect	OMIM:620242
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Recurrent pneumonia, Umbilical hernia, Ventricular ...	OMIM:619769
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Congestive heart failure, Patent foramen ovale, Pu...	OMIM:616866
Hemangioblastoma	Neurogenic bladder, Hydrocephalus	ORPHA:252054
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Low-set ears, Camptodactyly of finger, Atrioventricular canal defect, Bilateral single transverse...	ORPHA:3047
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Short nose	ORPHA:2835
Beemer-Ertbruggen Syndrome	Wide nasal bridge, Bulbous nose, Communicating hydrocephalus	ORPHA:1237
Lhermitte-Duclos Disease	Hand polydactyly, Hydrocephalus, Polymicrogyria	ORPHA:65285
Ulbright-Hodes Syndrome	Abnormal penis morphology, Depressed nasal bridge, Renal hypoplasia, Abnormal forearm bone morpho...	ORPHA:3404
Parkinsonian-Pyramidal Syndrome	Talipes equinovarus, Neurogenic bladder, Lewy bodies, Substantia nigra gliosis	ORPHA:171695
Cornelia De Lange Syndrome 6	Short 1st metacarpal, Short nose, Anteverted nares, Hypoplasia of the corpus callosum, Down-slopi...	OMIM:620568
Cerebral Visual Impairment	Focal cortical dysplasia, Ischemic stroke, Microcephaly, Abnormal cerebral white matter morpholog...	ORPHA:447788
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Restrictive cardiomyopathy, Slender long bone, Hearing impairment, Upper limb under...	ORPHA:369837
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Absen...	OMIM:305100
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Absent nipple, Brittle hair, Absent hair	OMIM:614940
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Umbilical hernia, Polymicrogyria, Horseshoe kidney, Bulbous nos...	ORPHA:3310
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Almond-shaped palpebral fissure,...	ORPHA:98754
Oeis Complex	Congenital hip dislocation, Hydroureter, Myelomeningocele, Hydronephrosis, Talipes equinovarus, H...	OMIM:258040
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Ventricular septal defect, Nail dysplasia, Cerebral hemorrhage, Clinodactyly of ...	OMIM:616682
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect, Low anterior hairline	OMIM:619909
Loeys-Dietz Syndrome 1	Dermal translucency, Striae distensae, Arachnodactyly, Talipes equinovarus, Postaxial polydactyly...	OMIM:609192
Deeah Syndrome	Extra-axial cerebrospinal fluid accumulation, Overlapping fingers, Death in childhood, Death in i...	OMIM:619004
Bannayan-Riley-Ruvalcaba Syndrome	Broad thumb, Anteverted nares, Dolichocephaly, Frontal bossing, Short nose, Wide nose	ORPHA:109
Wrinkly Skin Syndrome	Low-set ears, Congenital hip dislocation, Atrial septal dilatation, Umbilical hernia, Multiple pa...	ORPHA:2834
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:210122
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Pneumonia, Broad distal phalanx of finger, Broad thumb, Conductive hearing...	ORPHA:353281
Bdv Syndrome	Atrial septal defect, Macrotia	OMIM:619326
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Death in childhood, Patent foramen ovale	OMIM:614582
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Atrial septal defect	OMIM:614857
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Almond-shaped palpebral fissure,...	ORPHA:98793
Alzahrani-Kuwahara Syndrome	Low-set ears, Coronary sinus enlargement, Hearing impairment, Patent foramen ovale, Ventricular s...	OMIM:619268
Synaptic Congenital Myasthenic Syndromes	Hand muscle weakness, Talipes equinovarus, Limited wrist extension, Scapular winging, Abnormality...	ORPHA:98915
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Ventriculomegaly, Umbilical hernia, Thick nasal alae, Heparan sulfate ...	ORPHA:581
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Almond-shaped palpebral fissure,...	ORPHA:177904
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Pulmonary fibrosis, Secundum atrial septal defect	OMIM:611926
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411511
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Almond-shaped palpebral fissure,...	ORPHA:177901
Beckwith-Wiedemann Syndrome	Umbilical hernia, Diastasis recti, Inguinal hernia, Congenital diaphragmatic hernia, Leiomyosarco...	ORPHA:116
Knobloch Syndrome	Depressed nasal bridge, Occipital encephalocele, Bifid ureter, Calvarial skull defect, Vesicouret...	ORPHA:1571
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Atrial septal defect, Fine hair, Brittle hair	OMIM:618891
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Low-set ears, Cupped ear, Atrioventricular canal defect, Spina bifida, Thickened helices, Posteri...	OMIM:619480
Prader-Willi Syndrome	Small hand, Hypopigmentation of the skin, Hip dysplasia, Recurrent respiratory infections, Short ...	ORPHA:739
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect	OMIM:611087
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Phosphoribosylpyrophosphate Synthetase Superactivity	Low-set ears, Hearing impairment, Death in childhood, Sensorineural hearing impairment, Sparse hair	OMIM:300661
Hermansky-Pudlak Syndrome 7	Albinism, Epistaxis, Ocular albinism	OMIM:614076
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Abnormality of the outer ear, Clinodactyly, Abnormal heart morphology, Syndactyly, Brachydactyly,...	ORPHA:96182
Intellectual Developmental Disorder, Autosomal Dominant 38	Depressed nasal bridge, Microcephaly, Talipes equinovarus, Cerebral atrophy	OMIM:616393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Polymicrogyria, Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosu...	OMIM:253280
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:242860
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Delayed eruption of teeth, Pallor, Chronic rhinitis, Bowing of the...	ORPHA:667
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Craniolenticulosutural Dysplasia	Forehead hyperpigmentation, High iliac wing, Coarse hair, Narrow iliac wing, Brittle hair, Sparse...	OMIM:607812
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Aicardi Syndrome	Recurrent pneumonia, Sparse lateral eyebrow, Spina bifida, Microphthalmia, Proximal placement of ...	OMIM:304050
Aica-Ribosiduria Due To Atic Deficiency	Low-set ears, Secundum atrial septal defect	OMIM:608688
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Absent thumb, Short thumb, Congestive heart failure, Partial duplication of thu...	OMIM:105650
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Multicystic kidney dysplasia, Long hallux, Genu valgum, Axenfeld anomaly, ...	ORPHA:261537
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Neurogenic bladder, Hydrocephalus	OMIM:613686
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Grade II vesicoureteral reflux, Proteinuria,...	OMIM:619377
Normosmic Congenital Hypogonadotropic Hypogonadism	Camptodactyly, Breast hypoplasia, Congenital sensorineural hearing impairment, Sparse body hair	ORPHA:432
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Talipes equinovarus, Craniosynostosis	OMIM:601374
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Diffuse white matter abnormalities, Cerebral cortical atrophy, Ventriculomegaly, Long foot, Promi...	ORPHA:457359
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce...	ORPHA:99094
Transketolase Deficiency	Hearing impairment, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, A...	ORPHA:488618
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Talipes equinovarus, Erythema	OMIM:614653
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Leukoencephalopathy, Methylmalonic aciduria, Cerebral atrophy, Increased CSF lactate, 3-Methylglu...	ORPHA:17
Popliteal Pterygium Syndrome	Spina bifida occulta, Cutaneous finger syndactyly, Talipes equinovarus	OMIM:119500
Semilobar Holoprosencephaly	Depressed nasal ridge, Single naris, Proboscis, Agenesis of corpus callosum, Microcephaly, Hydroc...	ORPHA:220386
Alobar Holoprosencephaly	Depressed nasal ridge, Single naris, Proboscis, Agenesis of corpus callosum, Microcephaly, Hydroc...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depressed nasal ridge, Single naris, Proboscis, Agenesis of corpus callosum, Microcephaly, Hydroc...	ORPHA:93926
Lobar Holoprosencephaly	Depressed nasal ridge, Single naris, Proboscis, Agenesis of corpus callosum, Microcephaly, Hydroc...	ORPHA:93924
Woodhouse-Sakati Syndrome	Alopecia, Hearing impairment, Fine hair, Abnormal T-wave, Sensorineural hearing impairment, Protr...	OMIM:241080
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Pleural effusion, Bradycardia	OMIM:617397
Coccidioidomycosis	Increased CSF protein concentration, Hypoglycorrhachia, Renal insufficiency, Abnormal long bone m...	ORPHA:228123
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Umbilical hernia, Bladder diverticulum, Talipes equinovarus, Pes planus, Cutis laxa	OMIM:614557
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Oligodontia-Colorectal Cancer Syndrome	Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair	OMIM:608615
Pseudo-Torch Syndrome 1	Low-set ears, Patent foramen ovale, Umbilical hernia	OMIM:251290
White-Kernohan Syndrome	Depressed nasal bridge, Hydroureter, Underdeveloped nasal alae, Horseshoe kidney, Anteverted nare...	OMIM:619426
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Osteopetrosis, Autosomal Recessive 7	Lateral ventricle dilatation, Death in childhood, Death in infancy, Femur fracture, Hydrocephalus	OMIM:612301
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Combined Immunodeficiency-Enteropathy Spectrum	Congenital pulmonary airway malformation, Alopecia of scalp, Nail dystrophy, Ventricular septal d...	ORPHA:436252
Dextrocardia	Abnormality of the ureter, Congenital hip dislocation, Hydrocephalus, Abnormal foot morphology	ORPHA:1666
Glutaric Acidemia I	Glutaric aciduria, Lateral ventricle dilatation, Ketonuria, Hydrocephalus	OMIM:231670
Isolated Posterior Meningocele	Enuresis, Absent Achilles reflex, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital men...	ORPHA:268810
Dural Sinus Malformation	Cerebral edema, Myelopathy, Hydrocephalus, Hypoplasia of the frontal lobes	ORPHA:97339
Lymphatic Malformation 13	Mitral regurgitation, Patent foramen ovale, Neonatal death, Pulmonary arterial hypertension, Atri...	OMIM:620244
Chédiak-Higashi Syndrome	Iris hypopigmentation, Epistaxis, Hypopigmentation of the skin, Spotty hyperpigmentation, Large c...	ORPHA:167
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec...	OMIM:270100
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Intracerebral periventricular calcifications, Microcephaly, Cerebral white mat...	ORPHA:168577
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Cerebral cortical atrophy, Homocystinuria, Acute kidney injury, Methylmalonic acidur...	OMIM:277400
Acquired Aneurysmal Subarachnoid Hemorrhage	Increased CSF lactate, Ischemic stroke, Hydrocephalus, Hyperglycorrhachia	ORPHA:90065
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dystrophic fingernails, ...	OMIM:150400
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Atrial septal defect, Hearing impairment, Patent foramen ovale	OMIM:620327
Wolcott-Rallison Syndrome	Double outlet right ventricle, Atrial septal defect, Metaphyseal dysplasia	ORPHA:1667
Neonatal Lupus Erythematosus	Basal ganglia calcification, Abnormal cerebral white matter morphology, Hydrocephalus	ORPHA:398124
Williams-Beuren Syndrome	Small nail, Premature graying of hair, Recurrent otitis media, Mitral regurgitation, Mitral valve...	OMIM:194050
Lymphatic Malformation 6	Chylothorax, Hearing impairment, Cupped ear, Pleural effusion, Atrial septal defect, Abnormal pin...	OMIM:616843
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98794
Neurofibromatosis, Type I	Inguinal freckling, Tibial pseudarthrosis, Genu valgum, Multiple cafe-au-lait spots, Hydrocephalu...	OMIM:162200
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Arterial rupture, Atrial septal defect	OMIM:619115
Thauvin-Robinet-Faivre Syndrome	Retinal coloboma, Long foot, Long hallux, Bifid ureter, Renal cyst, Coloboma, Pes planus, Large h...	OMIM:617107
Congenital Myopathy 13	Bilateral talipes equinovarus, Microcephaly, Brachycephaly, Ventriculomegaly	OMIM:255995
Plague	Hypotension, Mydriasis, Conjunctival hyperemia, Arrhythmia, Hematemesis, Tachycardia, Abnormality...	ORPHA:707
Aspartylglucosaminuria	Umbilical hernia, Abnormal morphology of ulna, Recurrent respiratory infections, Chronic otitis m...	ORPHA:93
Lipodystrophy, Familial Partial, Type 7	Low-set ears, Spontaneous pneumothorax, Pigmentary retinopathy, Pleural effusion, Pulmonary arter...	OMIM:606721
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Small nail, Hearing impairment, Elbow flexion contracture, Hip contracture, Death in infancy, Atr...	OMIM:300868
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Pulmonic stenosis, Sensorineural hearing impairment	OMIM:614300
Mowat-Wilson Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Genu valgum, Axenfeld anomaly, Chordee, Abno...	ORPHA:2152
Sotos Syndrome	Aplasia/Hypoplasia of the corpus callosum, Hip contracture, Talipes equinovarus, Pes planus, Larg...	ORPHA:821
Gabriele-De Vries Syndrome	Low-set ears, Sparse eyebrow, Ebstein anomaly of the tricuspid valve, Sandal gap, Breast hypoplas...	ORPHA:506358
Ramos-Arroyo Syndrome	Bilateral sensorineural hearing impairment, High anterior hairline, Atrial septal defect, Sparse ...	ORPHA:1051
Stüve-Wiedemann Syndrome	Absent patellar reflexes, Micromelia, Camptodactyly of finger, Elbow flexion contracture, Genu va...	ORPHA:3206
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula...	OMIM:615474
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Synostosis involving the 1st metacarpal, Tricuspid regurgitation, Supernumerary nipple, Abnormal ...	ORPHA:466791
Cerebrocostomandibular Syndrome	Low-set ears, Congenital hip dislocation, Conductive hearing impairment, Elbow flexion contractur...	OMIM:117650
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ventriculomegaly, Skin ulcer, Pes cavus, Hypoplasia of the corpus callosum, Spontaneous, recurren...	ORPHA:2072
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Depressed nasal bridge, Dilated third ventricle, Lateral ventricle dilatation, Renal tubular acid...	OMIM:619575
Icf Syndrome	Depressed nasal bridge, Communicating hydrocephalus, Umbilical hernia	ORPHA:2268
Lymphatic Malformation 7	Chylothorax, Pleural effusion, Pulmonary edema, Atrial septal defect, Pericardial effusion	OMIM:617300
Geleophysic Dysplasia 2	Short foot, Cone-shaped epiphysis, Short palm, Short nose	OMIM:614185
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis	OMIM:618699
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria, Ventriculomegaly, Abnormal periventricular white matter morphology, Microcephaly,...	ORPHA:395
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Penile Agenesis	Depressed nasal bridge, Hydroureter, Bilateral renal hypoplasia, Unilateral renal hypoplasia, Hyd...	ORPHA:49
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Sturge-Weber Syndrome	Cerebral cortical atrophy, Cerebral calcification, Iris coloboma, Hydrocephalus	ORPHA:3205
Alagille Syndrome 1	Low-set ears, Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Pigmentary re...	OMIM:118450
Floating-Harbor Syndrome	Low-set ears, Conductive hearing impairment, Clinodactyly, Short thumb, Tetralogy of Fallot, Avas...	ORPHA:2044
Aortic Valve Disease 2	Aortic valve stenosis, Aortic regurgitation, Mitral regurgitation, Patent foramen ovale, Bicuspid...	OMIM:614823
Kenny-Caffey Syndrome, Type 2	Thickened cortex of long bones, Abnormality of the medullary cavity of the long bones, Microphtha...	OMIM:127000
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Leukoencephalopathy, Ketonuria, Methylmalonic aciduria, Cerebral atrophy, Renal insufficiency, Pe...	ORPHA:79282
Alexander Disease	Cerebral calcification, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Frontal ...	ORPHA:58
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Hydrocephalus	ORPHA:31
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Situs inversus totalis, Portal hypertension, Neonatal death, Atrial septal...	OMIM:208540
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Sirenomelia	Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida	ORPHA:3169
Classical Ehlers-Danlos Syndrome	Umbilical hernia, Abnormal foot morphology, Striae distensae, Ecchymosis, Bladder diverticulum, T...	ORPHA:287
Singleton-Merten Syndrome 1	Shallow acetabular fossae, Expanded metatarsals with widened medullary cavities, Eruption failure...	OMIM:182250
Isolated Cleft Lip	Talipes equinovarus, Umbilical hernia	ORPHA:199302
Ciliary Dyskinesia, Primary, 1	Anosmia, Communicating hydrocephalus, Nasal polyposis, Chronic rhinitis	OMIM:244400
Encephalocraniocutaneous Lipomatosis	Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta, Lipodystrophy, Multipl...	ORPHA:2396
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp...	OMIM:300967
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Amish Lethal Microcephaly	Spina bifida, Death in infancy	ORPHA:99742
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Ankle flexion contracture, Shoulder girdle muscle weakness, Elbow fle...	ORPHA:2020
Whipple Disease	Hydrocephalus, Pedal edema	ORPHA:3452
Peroxisome Biogenesis Disorder 4B	Ureterocele, Single transverse palmar crease, Short nose	OMIM:614863
Lysinuric Protein Intolerance	Pulmonary hemorrhage, Sparse hair, Intraalveolar phospholipid accumulation, Fine hair	OMIM:222700
Hypomandibular Faciocranial Dysostosis	Atrial septal defect	OMIM:241310
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Microcephaly, Hydrocephalus, Dry skin	ORPHA:220295
Craniopharyngioma	Abnormal nasal bone morphology, Cerebral calcification, Abnormal frontal bone morphology, Hydroce...	ORPHA:54595
Hawkinsinuria	Sparse hair	OMIM:140350
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Ventricular septal defect, Thickened cor...	OMIM:620558
Stickler Syndrome	Depressed nasal ridge, Depressed nasal bridge, Abnormal epiphysis morphology, Proximal femoral ep...	ORPHA:828
Johanson-Blizzard Syndrome	Dilated cardiomyopathy, Fair hair, Frontal upsweep of hair, Portal hypertension, Single transvers...	OMIM:243800
Liver Disease, Severe Congenital	Pneumonia, Dry hair, Umbilical hernia, Recurrent otitis media, Dilatation of the ventricular cavi...	OMIM:619991
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Combined Pituitary Hormone Deficiencies, Genetic Forms	Depressed nasal ridge, Absent septum pellucidum, Agenesis of corpus callosum, Polydactyly, Abnorm...	ORPHA:95494
Loeys-Dietz Syndrome 3	Aortic regurgitation, Ventricular hypertrophy, Spontaneous pneumothorax, Umbilical hernia, Protru...	OMIM:613795
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Recurrent respiratory infections, Sparse hair, Sparse scalp hair	OMIM:612132
Abetalipoproteinemia	Distal lower limb muscle weakness, Talipes equinovarus, Pes cavus	ORPHA:14
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Recurrent pneumonia, Palmoplantar keratoderma, Nail dystrophy, Sparse hair	ORPHA:158668
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Hardikar Syndrome	Pigmentary retinopathy, Umbilical hernia, Mild hearing impairment, Vertigo, Portal hypertension, ...	OMIM:301068
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Familial Bicuspid Aortic Valve	Thoracic aorta calcification, Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissec...	ORPHA:402075
Leprosy	Epistaxis, Alopecia, Sparse body hair, Autoamputation of digits, Loss of eyelashes, Absent eyebrow	ORPHA:548
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Dermal translucency, Cystocele, Metacarpophalangeal joint hyperextensibility...	OMIM:130050
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Native American Myopathy	Camptodactyly, Talipes equinovarus	ORPHA:168572
Alstrom Syndrome	Nephritis, Renal insufficiency, Polydactyly, Pes planus, Tubulointerstitial nephritis, Hyperostos...	OMIM:203800
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Primrose Syndrome	Short distal phalanx of finger, Hearing impairment, Sparse body hair, Macrotia, Genu valgum, Hip ...	OMIM:259050
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Thin nail	OMIM:617799
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent...	OMIM:619573
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	High anterior hairline, Aspiration pneumonia, Abnormal heart morphology, Patent foramen ovale, Ve...	ORPHA:438213
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Remnants of the hyaloid vascular system	ORPHA:637
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Communicating hydrocephalus, Nephrocalcinosis, Cerebral atrophy	OMIM:616084
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Wrist swelling, Camptodactyly of finger, Genu val...	OMIM:309000
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Horseshoe kidney, Abnormality of the ureter, Cystoce...	ORPHA:322
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Thin long bone diaphyses, Bilateral microphthalmos, S...	ORPHA:93325
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Death in childhood, Death in infa...	OMIM:610505
Gaucher Disease, Type Iiic	Pes cavus, Hydrocephalus	OMIM:231005
Steinert Myotonic Dystrophy	Cerebral cortical atrophy, Shoulder girdle muscle weakness, Talipes equinovarus, Mild fetal ventr...	ORPHA:273
Neurofibromatosis Type 1	Slender long bone, Chorioretinal coloboma, Abnormal hip bone morphology, Genu valgum, Hydrocephal...	ORPHA:636
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Genu v...	OMIM:219800
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear	ORPHA:314647
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Neurogenic bladder, Hydrocephalus	ORPHA:137667
Medulloblastoma	Hydrocephalus	ORPHA:616
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Narrow iliac wing, Hydrocephalus, Hip contracture	ORPHA:3042
Mucopolysaccharidosis Type 2	Wide nasal bridge, Recurrent upper respiratory tract infections, Umbilical hernia, Hip dysplasia,...	ORPHA:580
Arima Syndrome	Postaxial foot polydactyly, Hypertension, Occipital meningocele, Postaxial hand polydactyly	OMIM:243910
Holoprosencephaly 1	Alobar holoprosencephaly, Single ventricle, Ethmocephaly, Microphthalmia	OMIM:236100
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent foramen ovale, Anomalous origin of right pulmonary artery from ...	OMIM:610338
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Preductal coarctation of the aort...	ORPHA:141127
Cryptococcosis	Hydrocephalus, Cerebral edema, Cerebral cortical atrophy	ORPHA:1546
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Enlarged kidney	OMIM:261740
Lymphangioleiomyomatosis	Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Hydrocephalus	ORPHA:538
Feingold Syndrome Type 1	Interrupted aortic arch, Patent ductus arteriosus	ORPHA:391641
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Diphallia	Abnormal heart morphology, Abnormal pubic bone morphology, Absent thumb, Atrial septal defect	ORPHA:227
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Congestive heart failure, Patent foramen ovale, Pul...	ORPHA:391487
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Renal angiomyolipoma...	ORPHA:805
Meningioma	Urinary incontinence, Hydrocephalus, Abnormality of the sense of smell	ORPHA:2495
Holoprosencephaly 2	Alobar holoprosencephaly, Semilobar holoprosencephaly, Single ventricle, Microphthalmia, Holopros...	OMIM:157170
Gaucher Disease	Ventriculomegaly, Death in infancy, Hematuria, Proteinuria, Hydrocephalus	ORPHA:355
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis	ORPHA:722
Feingold Syndrome 1	Interrupted aortic arch, Patent ductus arteriosus	OMIM:164280
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Sen...	OMIM:618748
1P21.3 Microdeletion Syndrome	Broad nasal tip, Short nose	ORPHA:293948
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse axillary hair, Sparse pubic hair, Sparse body hair	ORPHA:90796
Congenital Disorder Of Glycosylation, Type Iim	Thick eyebrow, Hypertension, Atrial septal defect	OMIM:300896
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Hypothyroidism, Congenital, Nongoitrous, 5	Mitral regurgitation, Patent foramen ovale	OMIM:225250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Frem2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Frem2.

No publications found that use IMPC mice or data for Frem2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Frem2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Frem2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us