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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 (3150 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	Microphthalmia, Low-set ears, Atresia of the external auditory canal, Cryptophthalmos, Low anteri...	OMIM:617666
Fraser Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Anophthalmia, Finger syndactyly, Abnormal pinn...	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 hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Syndactyly Type 1	Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger...	ORPHA:93402
Orbital Margin, Hypoplasia Of	Congenital extraocular muscle anomaly, Lower eyelid coloboma, Lacrimal duct atresia	OMIM:165600
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Syndactyly, Type Iii	4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4...	OMIM:186100
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ...	OMIM:617319
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Coats Disease	Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r...	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	Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Rhizomelia, Hypospadias, Anophthalmia, Microcornea, 2-3 toe syndactyly, Long eyel...	OMIM:615877
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e...	OMIM:601631
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Corneal opacity, Persistent pupillary membrane, Ptosis, Cataract, Aplasia/Hypoplasia of the iris	ORPHA:1067
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi...	OMIM:113100
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Crossed Polysyndactyly	Hypoplasia of penis, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydacty...	ORPHA:2935
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1891
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Optic atrophy, Iris cyst, Ptosis, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure	OMIM:620086
Bilateral Acute Depigmentation Of The Iris	Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe...	ORPHA:69736
Syndactyly Type 3	Finger syndactyly, Camptodactyly of finger, Short toe	ORPHA:93404
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Upper eyelid coloboma, Telecanthus, Low-set ears,...	OMIM:167730
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis, Developmental glaucoma, Aniridia, Telecanthus	OMIM:206750
Dermochondrocorneal Dystrophy	Abnormality of the hand, Corneal dystrophy, Large hands	ORPHA:79149
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu...	ORPHA:3246
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma	OMIM:616428
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Oculotrichoanal Syndrome	Microphthalmia, Upper eyelid coloboma, Anophthalmia, Cryptophthalmos, Abnormal hair pattern, Naso...	ORPHA:2717
Aniridia 1	Bilateral ptosis, Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic ...	OMIM:106210
Anterior Segment Dysgenesis 4	Iris hypopigmentation, Hypoplastic iris stroma	OMIM:137600
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa...	OMIM:174200
Norrie Disease	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit...	OMIM:310600
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short...	OMIM:112600
Polydactyly, Preaxial I	Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu...	OMIM:174400
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Syndactyly Type 5	Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge...	ORPHA:93406
Craniosynostosis, Philadelphia Type	Finger syndactyly, Long palpebral fissure	ORPHA:1527
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Polydactyly, Postaxial, Type A10	Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:618498
Brachydactyly Type A7	Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal...	ORPHA:93397
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Redundant neck skin, Clinodactyly of the 5th finger, Hydranencephaly, Single transver...	OMIM:236500
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar...	ORPHA:171673
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Wahab Syndrome	Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,...	OMIM:615170
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho...	ORPHA:2779
Edict Syndrome	Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris	OMIM:614303
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Finger synda...	ORPHA:246
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Short thumb, Chorioretinal coloboma	OMIM:274205
Gombo Syndrome	Microphthalmia, Radial deviation of finger, Clinodactyly, Brachydactyly	OMIM:233270
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Gms Syndrome	Rieger anomaly, Downslanted palpebral fissures, Epicanthus, Tricuspid regurgitation	ORPHA:2090
Bardet-Biedl Syndrome 18	Retinal dystrophy, Brachydactyly, Cataract, Rod-cone dystrophy, Stage 5 chronic kidney disease, R...	OMIM:615995
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Anophthalmia, Cryptophthalmos, Abnormality of the hair...	OMIM:248450
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands	OMIM:185900
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:71289
Gelatinous Drop-Like Corneal Dystrophy	Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi...	ORPHA:98957
Polydactyly, Postaxial, Type A9	Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:618219
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas...	OMIM:609432
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Telecanthus, Abnormal hair morphology, Hyperpigmented nevi, Optic nerve...	OMIM:607597
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hirsutism, Low-set ears, Long eyelashes, Hear...	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 shoulder morphology, Telecanthus, Short metacarpal, Abnormal pelvic girdle bone morpholo...	ORPHA:1422
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s...	ORPHA:157801
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndactyly, Ventriculo...	OMIM:615938
Isolated Aniridia	Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia	ORPHA:250923
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Bartsocas-Papas Syndrome	Popliteal pterygium, Renal hypoplasia/aplasia, Sparse or absent eyelashes, Finger syndactyly, Cor...	ORPHA:1234
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	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, Synophrys, Hypoplastic iris stroma, White eyelashes, White eyebrow	OMIM:193510
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Synophrys, Thick eyebrow, Epicanthus, Radiouln...	ORPHA:3268
Coloboma Of Macula-Brachydactyly Type B Syndrome	Renal agenesis, Broad thumb, Camptodactyly of finger, Chorioretinal coloboma, Short distal phalan...	ORPHA:1471
Bardet-Biedl Syndrome 14	Polydactyly, Renal insufficiency	OMIM:615991
Syndactyly-Polydactyly-Earlobe Syndrome	1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly...	OMIM:186350
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Downslanted palpebral fissures, Clinodactyly of the 5th finger, Epicanthus	ORPHA:238446
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Short Tarsus With Absence Of Lower Eyelashes	Hypoplasia of the lower eyelids, Absent lower eyelashes	OMIM:600269
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Intermediate Uveitis	Band keratopathy, Vasculitis, Cystoid macular edema, Vitreous snowballs, Optic neuritis, Vitreous...	ORPHA:279914
Atopic Keratoconjunctivitis	Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne...	ORPHA:163934
Cryptorchidism, Unilateral Or Bilateral	Renal agenesis	OMIM:219050
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e...	OMIM:610256
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Bardet-Biedl Syndrome 5	Polydactyly, Micropenis, Syndactyly, Brachydactyly	OMIM:615983
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Hyperte...	OMIM:609049
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Developmental cataract, Retinal atrophy, Posterior synechiae of the anterior chamber	OMIM:616722
Neovascular Glaucoma	Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal...	ORPHA:94058
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormal lung morphology, Upper limb phoco...	ORPHA:294975
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Short Syndrome	Abnormal anterior chamber morphology, Telecanthus, Corneal opacity, Megalocornea, Hypoplasia of t...	ORPHA:3163
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Bartsocas-Papas Syndrome 1	Ectropion, Microphthalmia, Small nail, Hypoplastic iliac wing, Microtia, Oligodactyly, Short meta...	OMIM:263650
Frontonasal Dysplasia 3	Microphthalmia, Upper eyelid coloboma, Low-set ears, Absent eyebrow, Sparse eyelashes, Posteriorl...	OMIM:613456
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Clinodactyly of the 5th finger, Absent eyelashes, Microtia, third degree,...	OMIM:200110
Woolly Hair	Cataract, Sparse lateral eyebrow, Abnormal pupil morphology, Abnormal retinal morphology	ORPHA:170
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia	OMIM:306950
Chromosome 2Q31.1 Duplication Syndrome	Triphalangeal thumb, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus	OMIM:613681
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:488232
Distal Deletion 6P	Abnormal anterior chamber morphology, Clinodactyly of the 5th finger, Talipes equinovarus, Cornea...	ORPHA:96125
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Glandular hypospadias, Postaxial hand polydactyly, Short 2nd toe, Short thumb, Short 5th finger	OMIM:176305
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Telecanthus, Rieger anomaly, Abnormally prominent line of Schwalbe, C...	OMIM:109120
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Hypopigmented skin patches, Protruding ear, Palmoplantar keratoderma, Triphalangeal thumb, Hyperp...	ORPHA:2251
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Agenesis of corpus callosum, Ventriculome...	OMIM:614120
Isolated Split Hand-Split Foot Malformation	Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Orbital cyst, Congenital hip dislocation, Eyelid coloboma, Alopecia	OMIM:164180
Aniridia And Absent Patella	Cataract, Aplasia/Hypoplasia of the patella, Aniridia	OMIM:106220
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Microphthalmia, Anophthalmia	OMIM:615524
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Hypospadias, Dandy-Walker malformation, Postaxial hand poly...	OMIM:614175
Weill-Marchesani Syndrome 4	Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Brachydactyly, Posterior sy...	OMIM:613195
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme...	ORPHA:83461
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Aniridia-Absent Patella Syndrome	Cataract, Aplasia/Hypoplasia of the patella, Ptosis, Aniridia	ORPHA:1069
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Microphthalmia, Syndactyly, Brachydactyly, Peters anomaly, Cl...	OMIM:610023
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ocular anterior segment dysgenesis, Band keratopathy, Hypoplasia of the iris, Anterior synechiae ...	OMIM:614195
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly, Hypospadias, Coloboma	ORPHA:141333
Acrofrontofacionasal Dysostosis	Aplasia/Hypoplasia of the eyebrow, Hypospadias, Abnormal epiphysis morphology, Micromelia, Broad ...	ORPHA:1784
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Unilateral renal agenesis, Aniridia, Telecanthus, Corneal opacity	ORPHA:1064
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
2Q24 Microdeletion Syndrome	Microphthalmia, Abnormality iris morphology, Bullet-shaped distal phalanx of the hallux, Camptoda...	ORPHA:1617
Megalocornea-Intellectual Disability Syndrome	Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ...	ORPHA:2479
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Hypoplasia of the iris, Short phalanx of finger, Brachydactyly, Opt...	OMIM:600092
Neuhauser Syndrome	Corneal arcus, Iris transillumination defect, Iridodonesis, Genu valgum, Retinal detachment, Mega...	OMIM:249310
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Abnormal pinna morphology, Split hand, Ectrodactyly, Finger aplasia, Hearing...	OMIM:183600
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Retin...	OMIM:221900
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha...	ORPHA:189
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
ERI1-related disease	Dislocated radial head, Oligodactyly, Abnormal heart morphology, Syndactyly, Sparse hair, Slender...	OMIM:608739
Frontofacionasal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Microphthalmia, Upper eyelid coloboma, Telecanthus, Absent inn...	ORPHA:1791
Deafness, X-Linked 7	Telecanthus, Stenosis of the external auditory canal, Unilateral microphthalmos, Hearing impairme...	OMIM:301018
Greig Cephalopolysyndactyly Syndrome	Craniosynostosis, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Fron...	ORPHA:380
Split-Foot Malformation With Mesoaxial Polydactyly	Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly	OMIM:616890
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Microtia, Absent eyelashes, Absent eyebrow, Hearing impairment, Atresia of the...	ORPHA:920
Corneal Dystrophy, Epithelial Basement Membrane	Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy	OMIM:121820
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	2-3 toe syndactyly, Low-set ears, Horizontal eyebrow, Ptosis, Posteriorly rotated ears, Epicanthu...	OMIM:619311
Fraser Syndrome 2	Microphthalmia, Low-set ears, Atresia of the external auditory canal, Cryptophthalmos, Low anteri...	OMIM:617666
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Adams-Oliver Syndrome 4	Microphthalmia, Toenail dysplasia, Absent middle phalanx of the 3rd toe, Aplasia of the distal ph...	OMIM:615297
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi...	ORPHA:93323
Jawad Syndrome	Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy...	OMIM:251255
Barber-Say Syndrome	Ectropion, Sparse or absent eyelashes, Telecanthus, Breast aplasia, Abnormal pinna morphology, Hy...	ORPHA:1231
Axenfeld-Rieger Syndrome, Type 3	Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ...	OMIM:602482
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Aplasia/Hypoplasia of the earlobes, Deviation of...	ORPHA:1104
Phacoanaphylactic Uveitis	Cystoid macular edema, Hyphema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseud...	ORPHA:209959
Aniridia 3	Cataract, Aniridia	OMIM:617142
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Hypoplasia of the corpus callosum, Death in childhood, Progressive microcephaly, Death in adolesc...	OMIM:616486
Bardet-Biedl Syndrome 10	Polydactyly, Renal insufficiency, Renal cyst	OMIM:615987
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Urinary incontinence, Sandal gap, Single transverse palmar cre...	OMIM:617927
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Microphthalmia, Corneal opacity, Abnormality of retinal pigmentat...	ORPHA:290
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Nasolacrimal duct obs...	OMIM:612109
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Pulmonary artery atresia	OMIM:606217
Hypotrichosis 1	Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S...	OMIM:605389
Xeroderma Pigmentosum, Complementation Group D	Ectropion, Microphthalmia, Corneal neovascularization, Entropion, Keratitis, Conjunctivitis, Cata...	OMIM:278730
D-Lactic Aciduria With Gout	Downslanted palpebral fissures, Aniridia, Elevated urine D-lactate level, Lacticaciduria	OMIM:245450
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
WAGR 11p13 deletion syndrome	Renal neoplasm, Aniridia	DECIPHER:35
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	1-4 finger syndactyly, Split hand, Sparse scalp hair, Camptodactyly, Sparse eyelashes, 3-4 toe sy...	OMIM:225280
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Corneal opacity, Posterior embryoto...	ORPHA:1473
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Fraser Syndrome 3	Low-set ears, Cryptophthalmos, Short toe, Simple ear, Cutaneous syndactyly	OMIM:617667
Nager Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Low-set, posteriorly rotated ears, Aplasia/Hypopla...	ORPHA:245
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Aminopterin/Methotrexate Embryofetopathy	Talipes, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the corpus...	ORPHA:1908
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx	OMIM:605967
Idiopathic Panuveitis	Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju...	ORPHA:280921
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Donnai-Barrow Syndrome	Retinal dystrophy, Retinal detachment, Hypoplasia of the iris, Short sternum, Downslanted palpebr...	OMIM:222448
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Macular Dystrophy, Corneal	Recurrent corneal erosions, Macular dystrophy, Corneal dystrophy, Punctate opacification of the c...	OMIM:217800
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Eyelid colob...	OMIM:613001
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Trisomy 13	Bilateral single transverse palmar creases, Optic atrophy, Microphthalmia, Anophthalmia, Abnormal...	ORPHA:3378
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Microphthalmia With Limb Anomalies	Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hy...	OMIM:206920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Hem...	OMIM:615937
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, Ablepharon, Cataract, Toe syndactyly	OMIM:616038
White Forelock With Malformations	White forelock, Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Pol...	OMIM:277740
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Aortic aneurysm	ORPHA:261102
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe...	ORPHA:93409
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Upslanted palpebral fissure, Unilateral renal agenesis	ORPHA:2512
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Hearing impairment, Abnormality of skin p...	ORPHA:42665
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Microphthalmia, Short long bone, Corneal opacity, Short metacarpal,...	ORPHA:85167
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplasia of the corpus callosum, Brachycephaly, Preaxial polydactyly, Unilateral renal agenesis...	OMIM:618142
Treacher Collins Syndrome 4	Downslanted palpebral fissures, Conductive hearing impairment, Preauricular hair displacement, Lo...	OMIM:618939
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Low-set ears, ...	OMIM:613885
Zechi-Ceide Syndrome	Short metatarsal, Sandal gap, Thick hair, Small nail, Abnormal earlobe morphology, Microtia, Abno...	ORPHA:217017
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Axenfeld-Rieger Syndrome	Abnormal anterior chamber morphology, Hypospadias, Telecanthus, Posterior embryotoxon, Aplasia/Hy...	ORPHA:782
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Trigonocephaly, Syndactyly, Umbilical hernia, Ventriculomegaly, Craniosynostosis, Hy...	OMIM:175700
Joubert Syndrome 15	Preaxial polydactyly, Nephronophthisis, Coloboma, Micropenis, Exencephaly	OMIM:614464
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones	OMIM:600384
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Lacrimal duct aplasia, T...	DECIPHER:46
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t...	OMIM:309630
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Pulmonary artery atresia, Double aortic arch, Tetralogy of Fallot, Aortopulmon...	OMIM:618780
Ventriculomegaly And Arthrogryposis	Hand clenching, Ulnar deviation of the wrist, Agenesis of corpus callosum, Cerebellar hypoplasia,...	OMIM:619501
Focal Dermal Hypoplasia	Microphthalmia, Renal hypoplasia/aplasia, Corneal opacity, Hypoplastic pelvis, Split foot, Upper ...	ORPHA:2092
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ...	OMIM:617642
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Absent distal phalanges, Low-set ears, 2...	OMIM:619339
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Hydrocephalus, Congenital, 3, With Brain Anomalies	Redundant neck skin, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly...	OMIM:617967
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Upper eyelid coloboma, Hearing impairment, Ptosis, Thick eyebrow,...	OMIM:619736
Distal Deletion 17Q	Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal hip bone morpholo...	ORPHA:1597
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Fraser Syndrome 1	Abnormal middle ear morphology, Upper eyelid coloboma, Small nail, Abnormal pinna morphology, Apl...	OMIM:219000
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, Single transverse palmar crease, Oligodactyly, Low-set e...	OMIM:201170
Terminal Osseous Dysplasia	Mesomelic arm shortening, Telecanthus, Abnormal hand bone ossification, Low-set ears, Camptodacty...	OMIM:300244
Distal Deletion 13Q	Abnormality of the hand, Anencephaly, Encephalocele, Abnormal metacarpal morphology, Aplasia/Hypo...	ORPHA:1590
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Iris coloboma, Prominent protruding coccyx, Hydranencephaly, Hyd...	ORPHA:2839
X-Linked Recessive Ocular Albinism	Astigmatism, Iris hypopigmentation, Hypoplasia of the fovea, Abnormal macular morphology, Abnorma...	ORPHA:54
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Limbal stem cell deficiency, Corneal neovascularization, Finger joint h...	OMIM:615225
Central Cloudy Dystrophy Of Francois	Corneal dystrophy, Central corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Bardet-Biedl Syndrome 9	Polydactyly, Astigmatism, Bone spicule pigmentation of the retina, Postaxial hand polydactyly, Po...	OMIM:615986
Albinism-Deafness Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Sensorineural hearing impairment, Piebal...	ORPHA:998
Uveal Melanoma	Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat...	ORPHA:39044
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Telecanthus, Sensorineural hearing impairment, ...	OMIM:619947
Gillespie Syndrome	Aniridia, Hypoplasia of the iris	OMIM:206700
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Waardenburg Syndrome, Type 2B	Premature graying of hair, Telecanthus, Sensorineural hearing impairment, Heterochromia iridis, W...	OMIM:600193
Microhydranencephaly	Hydranencephaly, Microcephaly, Prominent nasal bridge, Agenesis of corpus callosum, Cerebellar hy...	OMIM:605013
Congenital Microcoria	Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris...	ORPHA:566
Trisomy 12P	Clinodactyly of the 5th finger, Aplasia/Hypoplasia affecting the eye, Large hands, Thick eyebrow,...	ORPHA:1699
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short palpebral fissure, Recurrent otitis media, Hypoplastic thumbnail, Osseous finger syndactyly...	ORPHA:370010
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Microphthalmia, Oligodactyly, Low-set ears, Forearm undergrowth, Micromelia,...	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 kidney, Abnormality of the palmar creases, Retinal detachment, Nephrolithiasis...	ORPHA:521445
Axenfeld-Rieger Syndrome, Type 1	Polycoria, Aniridia, Hypospadias, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior em...	OMIM:180500
Odonto-Onycho Dysplasia-Alopecia Syndrome	Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai...	ORPHA:2722
Galloway-Mowat Syndrome 1	Optic atrophy, Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephro...	OMIM:251300
Duane Retraction Syndrome	Aniridia, Ectopic kidney, Hypoplastic iris stroma, Absent radius, Central heterochromia, Hypoplas...	ORPHA:233
Galactosialidosis	Corneal opacity, Cherry red spot of the macula	ORPHA:351
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Unilateral renal agenesis, Renal insufficiency	ORPHA:281090
Pallister-Hall Syndrome	Nail dysplasia, Microphthalmia, Microtia, Oligodactyly, Shortening of all distal phalanges of the...	OMIM:146510
Bazex-Dupré-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Abnormal finger morphology, Sparse...	ORPHA:113
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Hypoplasia of the radius, Stenosis of the external auditory canal, Finger...	OMIM:614900
Brachydactyly Type A4	Short middle phalanx of the 5th finger, Symphalangism affecting the phalanges of the hand, Short ...	ORPHA:93394
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Vitr...	ORPHA:263479
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Abnormal corneal endothelium morphology, Posterior subcapsular catar...	ORPHA:364055
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Weakness of the intrinsic hand muscles	OMIM:160565
Hypomelanosis Of Ito	Radial deviation of finger, Hand polydactyly, Syndactyly, Epicanthus, Cataract, Clinodactyly, Iri...	OMIM:300337
Sclerosteosis	Diaphyseal undertubulation, Finger syndactyly, Sensorineural hearing impairment, Ptosis, 2-3 fing...	ORPHA:3152
Arthrogryposis, Distal, Type 2B2	Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, U...	OMIM:618435
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Abnormality of the ear, Absent...	OMIM:172800
Laurence-Moon Syndrome	Bilateral single transverse palmar creases, Hypoplasia of penis, Finger syndactyly, Hand polydact...	ORPHA:2377
Pontocerebellar Hypoplasia, Type 12	Cerebral atrophy, Rocker bottom foot, Hypoplasia of the brainstem, Cerebral hypoplasia, Death in ...	OMIM:618266
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Microcephaly, Trigonocephaly, Overlapping toe, Penoscrotal transposition, Advanced e...	OMIM:619148
Nevus Comedonicus Syndrome	Preaxial polydactyly, Abnormal foot morphology, Spina bifida occulta, Finger syndactyly, Spina bi...	ORPHA:64754
Insulin-Like Growth Factor I, Resistance To	Short finger, Radial deviation of finger, Sandal gap, Highly arched eyebrow, Short foot, Synophry...	OMIM:270450
Meckel Syndrome, Type 4	Hypoplasia of the corpus callosum, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-...	OMIM:611134
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Glaucoma, Primary Closed-Angle	Increased cup-to-disc ratio, Anterior synechiae of the anterior chamber	OMIM:618880
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality...	ORPHA:521308
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Craniofacial Microsomia 2	Microtia, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Microtia, first de...	OMIM:620444
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Postaxial polydactyly, Attenuat...	OMIM:614500
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology	ORPHA:2730
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Hypertension, Short lower limbs, Leukocoria, Bowing of the legs, Telangiectasia	OMIM:219250
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty...	ORPHA:3258
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand poly...	ORPHA:2091
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short metacarpal, Short thumb, Chorioretinal coloboma, Epicanthus, Cataract	ORPHA:2489
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Morm Syndrome	Abnormality of the kidney, Retinal dystrophy, Retinal atrophy, Cataract, Micropenis	ORPHA:75858
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Tetralogy of Fallot, Omphalocele	OMIM:613630
Woolly Hair Nevus	Persistent pupillary membrane, Heterochromia iridis, Brachydactyly	ORPHA:79414
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Knee flexion contracture, Cerebellar vermis hypoplasia, Femoral retroversion, Unilateral wrist fl...	OMIM:616531
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Sparse or absent eyelashes, Finger syndactyly, Abnormal toenail morphology,...	ORPHA:1433
Richieri-Costa/Guion-Almeida Syndrome	Abnormal digit morphology, Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Palmoplantar ...	OMIM:268850
Albinism-Deafness Syndrome	Piebald skin depigmentation, Congenital sensorineural hearing impairment, Patchy hypo- and hyperp...	OMIM:300700
Ectodermal Dysplasia-Syndactyly Syndrome 1	Coarse hair, 2-3 toe cutaneous syndactyly, Small nail, Sparse scalp hair, Patchy alopecia, 4-5 to...	OMIM:613573
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Microphthalmia, Femoral bowing, Corneal opacity, Tibial bowing, Sho...	OMIM:608940
Hec Syndrome	Cardiomyopathy, Developmental cataract, Abnormal retinal vascular morphology, Arrhythmia, Abnorma...	ORPHA:2119
Hypotrichosis 10	Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	OMIM:614238
Autoinflammation With Arthritis And Dyskeratosis	Corneal neovascularization, Punctate keratitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis...	OMIM:617388
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent otitis media, Clinodactyly of the 5th finger, Oligodactyly, Low-set ears, Hypertension,...	OMIM:619758
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split hand, Hand monodactyly, Retinopathy, Split foot, Cataract	OMIM:183800
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Patent ductus arteriosus	ORPHA:99811
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Microphthalmia, Astigmatism, Sandal gap, 3-4 toe syndactyly, Broad hallux, Ectopia...	OMIM:618727
17Q21.31 Microduplication Syndrome	Short nose, Clinodactyly of the 5th finger, Sandal gap, Anteverted nares, Microcephaly, Toe synda...	ORPHA:217340
Wilson-Turner Syndrome	Microtia, Tapered finger, Thick eyebrow, Short foot, Small hand	ORPHA:3459
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Ventriculomegaly, Aplasia/Hypoplasia of t...	OMIM:612651
Ophthalmoplegia, Familial Static	Ptosis, Anisocoria	OMIM:165000
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Waardenburg Syndrome, Type 2E	Heterochromia iridis, Hypoplasia of the iris, Iris hypopigmentation, White eyelashes, White eyebr...	OMIM:611584
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Convex nasal ridge, Cone-shaped epiphyses of the phalanges of the hand, Narrow nasal bridge, Micr...	ORPHA:85172
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, White eyelashes, White eyebrow, Hypopigmentation of the fundus, Blue irides	OMIM:103500
Heyn-Sproul-Jackson Syndrome	Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx, Sparse hair, Epicanthus	OMIM:618724
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Oculocerebrocutaneous Syndrome	Finger syndactyly, Corneal opacity, Congenital hip dislocation, Aplasia/Hypoplasia of the distal ...	ORPHA:1647
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares, Abnormality of the ureter, Deviation of finger, Frontal bossing, Hy...	ORPHA:1450
Catel-Manzke Syndrome	Chronic otitis media, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Highly a...	ORPHA:1388
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Genu valgum, Talipes equinovarus, Hip dysplasia, Acetabular dysplasia, Coxa valga	OMIM:613618
Hypotrichosis Simplex	Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:55654
Aphalangy-Syndactyly-Microcephaly Syndrome	Hypoplastic fingernail, Abnormal metacarpal morphology, Absent toenail, Split foot, Aplasia/Hypop...	ORPHA:1113
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Broad distal phalanx of finger, Hydroureter, Unilateral renal agenesis, Anterior polar cataract, ...	OMIM:619194
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Corneal neovascularization, Hypoplasia of the lacrimal punctum, Limba...	ORPHA:2363
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly	OMIM:615984
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Hydranencephaly, Microcephaly, Short distal phalanx of finger, Underde...	OMIM:601355
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Sandal gap, Camptodactyly of toe, Downslanted palpebral fissures, Scler...	ORPHA:251038
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Hematuria, Chorioretinal coloboma, Cataract, Iris coloboma	OMIM:120433
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Short Syndrome	Astigmatism, Radial deviation of finger, Telecanthus, Slender long bone, Megalocornea, Enlarged e...	OMIM:269880
Camptodactyly Syndrome, Guadalajara Type 1	Cubitus valgus, Low-set, posteriorly rotated ears, Highly arched eyebrow, Attached earlobe, Micro...	ORPHA:1327
Mandibulofacial Dysostosis With Alopecia	Stenosis of the external auditory canal, Microtia, Alopecia, Low-set ears, Sparse eyelashes, Cond...	OMIM:616367
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hypoplasia of the corpus callosum, Preaxial polydactyly, Anencephaly, Hydrocephalus, Cerebellar v...	OMIM:616546
Even-Plus Syndrome	Highly arched eyebrow, Microtia, Patent foramen ovale, Synophrys, Epiphyseal dysplasia, Sparse ha...	OMIM:616854
Sweeney-Cox Syndrome	Upper eyelid coloboma, Small nail, Short clavicles, Microtia, Low-set ears, 2-5 toe syndactyly, B...	OMIM:617746
Winchester Syndrome	Osteolysis involving tarsal bones, Broad metacarpals, Corneal opacity, Carpal osteolysis	OMIM:277950
Meckel Syndrome, Type 2	Polydactyly, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Postaxial hand p...	OMIM:603194
Blue Cone Monochromatism	Corneal dystrophy, Abnormality of retinal pigmentation	ORPHA:16
Galactosemia Ii	Cataract, Galactosuria	OMIM:230200
Coxoauricular Syndrome	Hearing impairment, Microtia, Hip dislocation	OMIM:122780
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Chromosome 16Q12 Duplication Syndrome	Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria...	OMIM:619649
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Palmoplantar keratoderma, Brittle hair, Abnormal pinna morphology, Absent eyelash...	ORPHA:2890
Dubowitz Syndrome	Short palpebral fissure, Microphthalmia, Clinodactyly of the 5th finger, Hypospadias, Telecanthus...	OMIM:223370
Carpenter Syndrome	Polydactyly, Genu valgum, Turricephaly, Craniosynostosis, Finger syndactyly, Cloverleaf skull, Po...	ORPHA:65759
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, Choroid plexu...	OMIM:617866
Genitourinary And/Or Brain Malformation Syndrome	Secondary microcephaly, Dysplastic corpus callosum, Short nose, Hypospadias, Polymicrogyria, Urog...	OMIM:618820
Conductive Deafness-Malformed External Ear Syndrome	Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, Low-set ears, Stenosis of ...	ORPHA:3216
Coats Disease	Retinal telangiectasia, Exudative retinal detachment, Leukocoria	OMIM:300216
Acropectorovertebral Dysplasia	Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial deviation of the 2nd finger, B...	OMIM:102510
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,...	OMIM:615059
Waardenburg Syndrome, Type 1	Telecanthus, Heterochromia iridis, Hypoplastic iris stroma, Synophrys, Thick eyebrow, White eyela...	OMIM:193500
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Ectropion, Low-set ears, Congenital hip disloca...	OMIM:263750
Treacher Collins Syndrome 3	Downslanted palpebral fissures, Conductive hearing impairment, Microtia, Lower eyelid coloboma	OMIM:248390
Bardet-Biedl Syndrome 4	Polydactyly, Renal cyst, Syndactyly, Brachydactyly	OMIM:615982
Abruzzo-Erickson Syndrome	Hypospadias, Microcornea, Radioulnar synostosis, Short toe, Chorioretinal coloboma, Brachydactyly...	ORPHA:921
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Hypertension, Ectopia pupillae	ORPHA:1885
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Hyaloid vascular remnant and retrolental mass, Microcornea, Glial remnants anteri...	ORPHA:91495
Masa Syndrome	Pes cavus, Adducted thumb, Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Ventriculome...	OMIM:303350
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Humeroradial synostosis, Arachnodactyly, Occipital encephalocele, Oligodactyly	OMIM:614416
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Unilateral renal agenesis, Corneal opacity, Developmental cataract, Adducte...	OMIM:616603
1Q21.1 Microduplication Syndrome	Hypospadias, Hydrocephalus, Frontal bossing, Hip dysplasia, Talipes equinovarus, Hip dislocation	ORPHA:250994
Biemond Syndrome Ii	Hydrocephalus, Preaxial hand polydactyly, Iris coloboma	OMIM:210350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Abnormal eyelash morphology, Sparse scalp hair, Hearing impairment, Sparse body ha...	ORPHA:1008
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Microphthalmia, Tetralogy of Fallot	OMIM:300887
Traboulsi Syndrome	Short finger, Microphthalmia, Cubitus valgus, Spherophakia, Homocystinuria, Phakodonesis, Iris at...	OMIM:601552
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation, Frontal bossing, Dolichocephaly, Orbital craniosynostos...	ORPHA:1538
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Nephronophthisis 11	Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Anisocoria, Retinal degener...	OMIM:613550
Adams-Oliver Syndrome 3	Short 5th toe, Short palpebral fissure, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short p...	OMIM:614814
Intellectual Developmental Disorder, X-Linked 91	Short nose, Cubitus valgus, Short foot, Short 5th finger, Clinodactyly, Small hand	OMIM:300577
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Hypoplastic fingernail, Proximal placement of thumb, Clinodactyly of the 5...	OMIM:618619
Nanophthalmos 4	Microphthalmia	OMIM:615972
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Microcephaly, Cerebral cortical atrophy, Camptodactyly of finger, Holoprosenceph...	ORPHA:2570
Nanophthalmos	Microphthalmia	ORPHA:35612
Fraser Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Anophthalmia, Finger syndactyly, Abnormal pinn...	ORPHA:2052
Foveal Hypoplasia 2	Optic nerve misrouting, Microphthalmia, Astigmatism, Foveal hyperpigmentation, Axenfeld anomaly, ...	OMIM:609218
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Hartsfield Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Telecanthus, Split hand, Ptosis, Downslanted p...	ORPHA:2117
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Microtia, Hirsutism, Low-set ears, Synophrys, Clinodactyly	ORPHA:357175
Unilateral Ocular Duplication	Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Blepharophimosis, Iris coloboma	ORPHA:3374
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Abnormal hair quantity, Abnormal eyelid morphology, Euryblepharon, Distichiasi...	ORPHA:1997
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Proboscis Lateralis	Microphthalmia, Optic nerve hypoplasia, Corneal opacity, Abnormal eyebrow morphology, Ureteral ag...	ORPHA:141099
Scalp-Ear-Nipple Syndrome	Nail dysplasia, Palpebral edema, Small earlobe, Microtia, Underdeveloped tragus, Broad thumb, Spa...	OMIM:181270
Camptobrachydactyly	Urinary incontinence, Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndac...	OMIM:114150
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Genitopalatocardiac Syndrome	Double outlet right ventricle, Right aortic arch, Transposition of the great arteries	OMIM:231060
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me...	OMIM:260660
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Renal...	OMIM:611561
Potocki-Shaffer Syndrome	Brachycephaly, Short nose, Turricephaly, Single transverse palmar crease, Parietal foramina, 2-5 ...	OMIM:601224
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Macrotia, Syndactyly, Sparse hair, Palmoplantar keratoderma	OMIM:613576
Rubinstein-Taybi Syndrome 2	Short 5th toe, Short first metatarsal, Highly arched eyebrow, Hirsutism, Prominent fingertip pads...	OMIM:613684
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Interphalangeal joint contracture of finger, Thick eyebrow, Sparse hair, Preaxial hand polydactyl...	OMIM:606242
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr...	OMIM:180104
Neurofaciodigitorenal Syndrome	Triphalangeal thumb, Unilateral renal agenesis, Abnormal metacarpal morphology, Corneal dystrophy...	ORPHA:2673
Waardenburg Syndrome Type 2	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Telecanthus, Sen...	ORPHA:895
Pierpont Syndrome	Short finger, High anterior hairline, Microphthalmia, Deep palmar crease, Telecanthus, Prominent ...	ORPHA:487825
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Microphthalmia, Low-set ears, Talipes equinovarus	OMIM:616570
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Microtia, Broad thumb, Broad hallux phalanx, Atrial septal defect...	ORPHA:261295
Oculoauriculovertebral Spectrum With Radial Defects	Atrioventricular canal defect, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Abnormality ...	ORPHA:2549
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism, Upslanted palpebral fissure, Epicanthus	ORPHA:2528
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Microphthalmia, Short palpebral fissure, Telecanthus, 3-4 finger cu...	OMIM:257850
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Hematuria, Melena, Keratoconjunctivitis, Cataract, Opacification of t...	OMIM:158310
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Abnormal tragus morphology, Anophthalmia, Postaxial hand polyd...	ORPHA:66625
Johnson Neuroectodermal Syndrome	Protruding ear, Absent eyelashes, Microtia, Multiple cafe-au-lait spots, Absent eyebrow, Atresia ...	ORPHA:2316
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Bicuspid aortic valve, Atr...	ORPHA:1120
Braddock-Carey Syndrome 2	Microphthalmia, Hearing impairment, Atresia of the external auditory canal, Downslanted palpebral...	OMIM:619981
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Nail dystrophy, Triphalangeal thumb, Small nail, Sensorineural hearing impairment, Absent middle ...	OMIM:124480
Moebius Syndrome	Congenital fibrosis of extraocular muscles, Microphthalmia, Radial deviation of finger, Abnormali...	OMIM:157900
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A...	ORPHA:79113
Waardenburg Syndrome, Type 3	Premature graying of hair, Hypopigmented skin patches, Telecanthus, Blepharophimosis, Sensorineur...	OMIM:148820
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Res...	ORPHA:88630
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, Short nose, Hydrocephalus, Antev...	OMIM:618577
Cat-Eye Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Downslanted palpebral fissures, Hydronephrosis, Chorior...	ORPHA:195
Laurin-Sandrow Syndrome	Absent tibia, Fibular duplication, Absent radius, Tarsal synostosis, Abnormal metacarpal morpholo...	ORPHA:2378
Temtamy Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Telecanthus, Low-set ears, Short toe, Brachydacty...	ORPHA:1777
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Spindle-shaped finger, Genu valgum, Delayed ...	ORPHA:166024
Blepharocheilodontic Syndrome 2	Nail dysplasia, Euryblepharon, Distichiasis, Ectropion of lower eyelids, Lagophthalmos, Cutaneous...	OMIM:617681
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Hydrocephalus, Microtia, Myelomeningocele, Hearing impairment, Aplasia/Hypo...	ORPHA:1914
Ectodermal Dysplasia With Mental Retardation And Syndactyly	2-3 toe syndactyly, Dry skin, Long palpebral fissure, Sparse eyebrow, 3-4 finger syndactyly	OMIM:600906
Burn-Mckeown Syndrome	Short palpebral fissure, 2-3 toe syndactyly, Hearing impairment, Conductive hearing impairment, P...	OMIM:608572
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Microtia, Hirsutism, Low-set ears, Synophrys, Clinodactyly	OMIM:615162
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Proximal placement of thumb, Retinal dystrophy, Anophthalmia, Finger syndactyly, ...	ORPHA:139471
Arthrogryposis, Distal, Type 7	Hammertoe, Metatarsus adductus, Cutaneous syndactyly of toes, Talipes equinovarus, Hip dislocation	OMIM:158300
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Congenital palmoplantar hyperkeratosis, Autoamputation of digits, Talipes equinovarus	OMIM:620009
Warburg-Cinotti Syndrome	Corneal neovascularization, Osteolytic defects of the phalanges of the hand, Retinal dystrophy, L...	OMIM:618175
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Frontonasal Dysplasia 1	Joint contracture of the hand, Microphthalmia, Radial deviation of finger, Pectoral muscle hypopl...	OMIM:136760
Pierpont Syndrome	Short finger, High anterior hairline, Microphthalmia, Deep palmar crease, Telecanthus, Blepharoph...	OMIM:602342
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Microcephaly, Depressed nasal bridge, Hip dislocation, Short foot, Talipes equinovarus, Small hand	OMIM:300434
Brachydactyly, Type B2	Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:611377
Frontofacionasal Dysplasia	S-shaped palpebral fissures, Microphthalmia, Telecanthus, Microcornea, Ptosis, Ankyloblepharon, E...	OMIM:229400
Proximal Symphalangism	Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ...	ORPHA:3250
Arthrogryposis, Distal, Type 1B	Rocker bottom foot, Foot joint contracture, Camptodactyly, Talipes equinovarus, Joint contracture...	OMIM:614335
Acrocephalopolydactyly	Microtia, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Radial-Renal Syndrome	Ectopic kidney, Unilateral renal agenesis	OMIM:179280
Ectrodactyly-Polydactyly	Split foot, Split hand, Postaxial hand polydactyly	OMIM:225290
Neural Tube Defects, Susceptibility To	Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele	OMIM:182940
Deafness, Congenital, With Total Albinism	Hearing impairment, Albinism	OMIM:220900
Nephroblastoma	Nephroblastoma, Hypertension, Hematuria, Aniridia	ORPHA:654
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Microtia, Broad th...	ORPHA:1770
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cerebral atrophy, Brachycephaly, Short nose, Turricephaly, Hypospadias, Craniosynostosis, Abnorma...	ORPHA:171839
20P13 Microdeletion Syndrome	Polydactyly, Hypoplastic helices, Telecanthus, Small nail, Highly arched eyebrow, Finger syndacty...	ORPHA:313781
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Nail dysplasia, Cubitus valgus, Curly eyelashes, Facial hirsutism, Abnormal metatarsal morphology...	ORPHA:163654
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches, Abnormal thumb morphology, Abnormality of the wrist, Proximal placeme...	ORPHA:1825
Coloboma Of Macula With Type B Brachydactyly	Coloboma, Absent distal phalanges, Broad distal phalanx of the thumb, Bifid distal phalanx of the...	OMIM:120400
Desbuquois Syndrome	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho...	ORPHA:1425
17P13.3 Microduplication Syndrome	Hypoplasia of the corpus callosum, Short nose, Clinodactyly of the 5th finger, Wide nose, Hypopla...	ORPHA:217385
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Onychogryposis of toenails, Diffuse palmoplantar hyperkeratosis, Dystrophic to...	OMIM:617294
Trisomy 18	Bilateral single transverse palmar creases, Short nose, Cyclopia, Anencephaly, Abnormal hip bone ...	ORPHA:3380
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Microphthalmia, Syndromic 13	Microphthalmia, Microcornea, Ptosis, Chorioretinal coloboma, Iris coloboma	OMIM:300915
Neuralgic Amyotrophy	Short palpebral fissure, Redundant neck skin, Scapular winging, Upper limb amyotrophy, Syndactyly...	ORPHA:2901
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia, Hypospadias, Renal insufficiency, Nephroblastoma, Nephropathy	OMIM:194072
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Telecanthus, Alopecia, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, Large...	OMIM:203550
Anencephaly 2	Anophthalmia	OMIM:619452
Epiphyseal Dysplasia, Multiple, 4	Flat capital femoral epiphysis, Talipes equinovarus, Short metacarpal, Hypoplasia of the femoral ...	OMIM:226900
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Prominent ear helix, Synophrys, Long eyelashes, Thick eyebrow, Low anterior hairlin...	ORPHA:411986
Hypotrichosis 4	Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia	OMIM:146550
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Low-set, posteriorly...	ORPHA:1307
Immunodeficiency 10	Nephrotic syndrome, Recurrent urinary tract infections, Hypoplasia of the iris	OMIM:612783
Mosaic Trisomy 14	Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Microtia, Aplasia/...	ORPHA:1703
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Kid Syndrome	Corneal neovascularization, Delayed pubic bone ossification, Corneal erosion, Patellar hypoplasia...	ORPHA:477
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F...	ORPHA:3329
Otoonychoperoneal Syndrome	Popliteal pterygium, Abnormal diaphysis morphology, Abnormal antihelix morphology, Aplasia/Hypopl...	ORPHA:2793
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Acro-Renal-Ocular Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Sandal gap, Short humerus, Renal malrotation, Hypoplasi...	ORPHA:959
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh...	ORPHA:1354
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Moderate Multiminicore Disease With Hand Involvement	Distal upper limb muscle weakness, Recurrent patellar dislocation, Intrinsic hand muscle atrophy,...	ORPHA:178145
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Congenital Varicella Syndrome	Atypical scarring of skin, Microphthalmia	ORPHA:291
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Abnormal pupil morphology, Arrhythmia	ORPHA:2151
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Short palpebral fissure, Astigmatism, Unilateral renal agenesis, Vesicoureteral reflux, Retinal c...	OMIM:620654
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Abnormal nasopharynx ...	OMIM:607323
Gorlin-Chaudhry-Moss Syndrome	Abnormal metacarpal morphology, Upper eyelid coloboma, Abnormal eyelid morphology, Conductive hea...	ORPHA:2095
Aminopterin Syndrome Sine Aminopterin	Narrow palpebral fissure, Highly arched eyebrow, Low-set ears, Arachnodactyly, Rudimentary postax...	OMIM:600325
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormality of the pulmonary artery, Abnormal aortic morphology, Congenital diaphragmatic hernia,...	ORPHA:1166
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatr...	ORPHA:2703
Weaver Syndrome	Abnormal metaphysis morphology, Low-set, posteriorly rotated ears, Thin nail, Sandal gap, Finger ...	ORPHA:3447
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Downslanted palpebral fissures	OMIM:612913
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Chorioretinal coloboma, Iris coloboma	OMIM:601706
Toriello-Lacassie-Droste Syndrome	Epispadias, Short palpebral fissure, Hypospadias, Telecanthus, Abnormality of the bladder, Abnorm...	ORPHA:3339
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Abnormal vitreous humor morphology, Aniridia, Anophthalmia, Corneal dystrophy, Abnormal size of t...	ORPHA:1101
Wagro Syndrome	Aniridia, Hypertension, Corneal opacity, Ptosis, Downslanted palpebral fissures, Proteinuria, Cat...	OMIM:612469
8Q22.1 Microdeletion Syndrome	Sandal gap, Telecanthus, Abnormal antihelix morphology, Highly arched eyebrow, Abnormal pinna mor...	ORPHA:178303
Senior-Loken Syndrome	Nephronophthisis, Retinal dystrophy, Hypertension, Abnormality of retinal pigmentation, Chronic k...	ORPHA:3156
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux...	ORPHA:2438
Spastic Paraplegia 64, Autosomal Recessive	Microcephaly, Abnormal cerebral white matter morphology, Talipes equinovarus	OMIM:615683
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Trisomy 9P	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Downslanted palpebral...	ORPHA:236
Inverted Duplicated Chromosome 15 Syndrome	Clinodactyly of the 5th finger, Unilateral renal agenesis, 2-3 toe syndactyly, Synophrys, Downsla...	ORPHA:3306
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Linear Verrucous Nevus Syndrome	Abnormality of the kidney, Aplasia/Hypoplasia of the fovea, Short metacarpal, Retinopathy, Toe sy...	ORPHA:2611
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Microtia, Conductive hearing...	OMIM:248910
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Microphthalmia, Downslanted palpebral fissures, Syndactyly, Epicanthus, Large earlobe	OMIM:602501
Mmep Syndrome	Split foot, Microphthalmia, Ventricular septal defect, Triphalangeal thumb	ORPHA:3434
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida	ORPHA:2476
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Palpebral edema, Ptosis, Ectopia lentis, Abnormality of retinal pigmentation, Iris coloboma	ORPHA:1259
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ...	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 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, My...	ORPHA:93322
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Unilateral renal agenesis, Short metatarsal, Cone-shaped epiphyses of the phalange...	OMIM:101800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in childhood, Wide distal femoral metaphysis, Cardiomegaly, Delayed epiphyseal ossification...	OMIM:613320
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Microphthalmia, Astigmatism, Corneal neovascularization, Polycoria, Microcornea,...	OMIM:175780
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Microphthalmia, Hearing abnormality, Clinodactyly of the 5th finger, Apla...	ORPHA:1352
Alagille Syndrome	Hypoplasia of the ulna, Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Keratoconus, Co...	ORPHA:52
Acalvaria	Talipes, Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly, Calvarial sk...	ORPHA:945
Spastic Paraplegia 47, Autosomal Recessive	Hypoplasia of the corpus callosum, Genu recurvatum, Abnormal periventricular white matter morphol...	OMIM:614066
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C...	OMIM:613731
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Pes cavus, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upp...	OMIM:619216
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Broad finger, Abnormal pinna morphology, Overfolded helix, Short phalanx of finger, Thick eyebrow...	OMIM:614684
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication	Talipes equinovarus, Hip dysplasia	ORPHA:238578
Monosomy 5P	Low-set, posteriorly rotated ears, Finger syndactyly, Downslanted palpebral fissures, Epicanthus,...	ORPHA:281
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Cubitus valgus, Camptodactyly, Sparse lateral eyebrow, Macrotia, Long palpebral f...	OMIM:619694
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:1319
Oculocutaneous Albinism Type 6	Aplasia/Hypoplasia of the macula, Abnormal foveal morphology on macular OCT, Abnormal fundus morp...	ORPHA:370097
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla...	ORPHA:2878
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Pectoral muscle hypoplasia/aplasia, Sparse eye...	ORPHA:306542
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	High anterior hairline, Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, H...	OMIM:600987
Trisomy 1Q	Anophthalmia, Hydrocephalus, Abnormality of the outer ear, Low-set ears, Arachnodactyly, Camptoda...	ORPHA:261344
Craniodigital-Intellectual Disability Syndrome	Thick hair, Finger syndactyly, Long eyelashes, Abnormal hair pattern, Generalized hirsutism, Thic...	ORPHA:1514
Hydrolethalus	Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Micromelia, Agenesis of corpus callosum, ...	ORPHA:2189
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cyst...	OMIM:611040
Beaulieu-Boycott-Innes Syndrome	Short palpebral fissure, Unilateral renal agenesis, Recurrent urinary tract infections, Upslanted...	OMIM:613680
Schisis Association	Anencephaly, Encephalocele, Micromelia, Microcephaly, Spina bifida	ORPHA:63862
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Pericardial lymphangiectasia, Microtia, Camptodactyly, Hearing impairment, Syndactyly, Pulmonary ...	OMIM:616006
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Clinodactyly of the 5th finger, Telecanthus, Abnormal e...	ORPHA:2399
Neu-Laxova Syndrome 1	Rocker bottom foot, Microphthalmia, Radial deviation of finger, Pterygium, Finger syndactyly, Abs...	OMIM:256520
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Microtia, Microphthalmia, Symphalangism affecting the phalanges of the hand	ORPHA:2547
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Abnormal antihelix morphology, Microtia, Split hand, Micromelia, Brachydactyly...	ORPHA:2145
Pallister-Hall-Like Syndrome	Occipital encephalocele, Short nose, Hydrocephalus, Postaxial hand polydactyly, Death in infancy,...	OMIM:241800
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Abnormal size of the palpebral fissures, Microcornea, Iris hypopigmentation, Anterior synechiae o...	ORPHA:3214
Jacobsen Syndrome	Optic atrophy, Microphthalmia, Clinodactyly of the 5th finger, Hypospadias, Telecanthus, Nasolacr...	OMIM:147791
Hemifacial Atrophy, Progressive	Microtia, Patchy alopecia, Poliosis	OMIM:141300
Blepharocheilodontic Syndrome 1	Nail dysplasia, High anterior hairline, Small nail, Euryblepharon, Distichiasis, Ectropion of low...	OMIM:119580
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Talipes equinovarus, Hydrocephalus, Postaxial hand polydact...	OMIM:612284
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Retinal thinning, Genu valgum, Asteroid hyalosis, Epiphyseal dysplasia, Short phalanx of finger, ...	OMIM:132450
Pfeiffer Syndrome Type 1	Brachycephaly, Aqueductal stenosis, Short nose, Aplasia/Hypoplasia of the thumb, Short hallux, Fi...	ORPHA:93258
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Posterior uveitis, Anterior chamber cells, Retinal hemorrh...	ORPHA:79098
Charlie M Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Macrotia, Abn...	ORPHA:1406
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Triphalangeal thumb, Low-set, posteriorly rotated ears, Finger syndactyly, Microtia, Arachnodacty...	ORPHA:2994
Otopalatodigital Syndrome Type 2	Myelomeningocele, Flared iliac wing, Fibular aplasia, Tarsal synostosis, Abnormal metacarpal morp...	ORPHA:90652
Buratti-Harel Syndrome	Clinodactyly of the 5th finger, Small nail, Microtia, Low-set ears, Broad thumb, Recurrent pneumo...	OMIM:619314
Aase-Smith Syndrome	Abnormal hip bone morphology, Dandy-Walker malformation, Slender finger, Camptodactyly of finger,...	ORPHA:916
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia...	ORPHA:40366
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti	OMIM:601553
Stromme Syndrome	Stillbirth, Preaxial polydactyly, Short columella, Hydrocephalus, Optic nerve hypoplasia, Cerebel...	OMIM:243605
White Forelock With Malformations	Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Spina bifida occulta, Finger s...	ORPHA:2475
Prieto Syndrome	Cerebral atrophy, Radial deviation of finger, Talipes equinovarus, Prominent nose, Patellar dislo...	OMIM:309610
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Sandal gap, Small nail, Microtia, Low-set ears, Sparse eyebrow, Holoprosencephaly...	OMIM:612530
Alexander Disease	Microcoria	OMIM:203450
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ...	ORPHA:1106
Peho-Like Syndrome	Hypoplasia of the corpus callosum, Short nose, Lissencephaly, Progressive microcephaly, Polymicro...	OMIM:617507
Ectodermal Dysplasia 6, Hair/Nail Type	Thin toenail, Dystrophic toenail, Sparse hair, Alopecia	OMIM:614928
Momo Syndrome	Bilateral microphthalmos, Femoral bowing, Short sternum, Downslanted palpebral fissures, Underfol...	ORPHA:2563
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Microtia, Low-set ears, Short foot, Long eyelashes, Clinodactyly, Posteriorly rotated...	OMIM:618089
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Depressed nasal bridge, Talipes equinovarus	ORPHA:85288
Periventricular Nodular Heterotopia 7	Hypoplasia of the corpus callosum, Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger...	OMIM:617201
Bladder Exstrophy And Epispadias Complex	Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney	OMIM:600057
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
6Q16 Microdeletion Syndrome	Microtia, Low-set ears, Abnormal ear morphology, Thick eyebrow, Tapered finger	ORPHA:171829
Limb Body Wall Complex	Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha...	ORPHA:2369
Distal Xq28 Microduplication Syndrome	Absent antihelix, Microtia, Patent foramen ovale, Cafe-au-lait spot, Metatarsus adductus, Epistax...	ORPHA:293939
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease	OMIM:617661
Spastic Paraplegia 33, Autosomal Dominant	Talipes equinovarus, Ankle clonus	OMIM:610244
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Highly arched eyebrow, Absen...	OMIM:620662
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Retinal dystrophy, Microcornea, Remnants of the hyaloid vas...	ORPHA:231736
Microgastria-Limb Reduction Defect Syndrome	Abnormal lung lobation, Atrial septal defect, Microphthalmia, Abnormal metacarpal morphology, Ano...	ORPHA:2538
Cardiocranial Syndrome, Pfeiffer Type	Deep palmar crease, Low-set, posteriorly rotated ears, Low-set ears, Slender finger, Umbilical he...	ORPHA:2872
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Microphthalmia, Small nail, Brittle hair, A...	OMIM:234050
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Low-set, posteriorly rotated ears, Sandal gap, Micromelia, Arachnodactyly, Hypoplasi...	ORPHA:1035
Joubert Syndrome 40	Postaxial polydactyly, Almond-shaped palpebral fissure	OMIM:619582
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Low-set, posteriorly rotated ears, Spina bifida occulta, Microtia, Low posterior hai...	ORPHA:2983
Morquio Syndrome C	Corneal opacity	OMIM:252300
Sandestig-Stefanova Syndrome	Rocker bottom foot, Bilateral single transverse palmar creases, Microphthalmia, Highly arched eye...	OMIM:618804
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion	OMIM:610048
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Aplasia/Hypoplasia of the external ear, Highly arched eyebrow, Hyperextensibility of the finger j...	ORPHA:505237
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly, Telecanthus	OMIM:300484
Waardenburg Syndrome Type 3	Atelectasis, Abnormal finger morphology, Abnormality of the upper limb, White hair, Synostosis of...	ORPHA:896
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hydrocephalus, Frontal bossing...	ORPHA:1516
Limb-Mammary Syndrome	Nail dysplasia, Lacrimal duct atresia, Hypoplastic nipples, Split hand, Camptodactyly, Split foot...	OMIM:603543
Atelis Syndrome 1	Irregular hyperpigmentation, Microtia, Cafe-au-lait spot, Bronchiectasis, Atrial septal defect, V...	OMIM:620184
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Muscular dystrophy, Microphthalmia	OMIM:614830
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
6P22 Microdeletion Syndrome	Finger syndactyly, Low-set ears, Overfolded helix, Hearing impairment, Epicanthus, Clinodactyly	ORPHA:251046
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Cutis Laxa-Marfanoid Syndrome	Congenital diaphragmatic hernia, Flexion contracture	ORPHA:171719
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Abnormal hair morphology, Aplasia/...	ORPHA:3082
Coxoauricular Syndrome	Abnormal femur morphology, Microtia, Abnormal pelvic girdle bone morphology, Micromelia, Hearing ...	ORPHA:1508
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Microphthalmia, Aplastic/hypoplastic toenail, Absent toe, Abnormalit...	ORPHA:974
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Microtia, Low posterior hairline, Mitral...	OMIM:245600
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of th...	OMIM:101600
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Talipes, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Microcephaly,...	OMIM:225790
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma	ORPHA:2921
Warburg Micro Syndrome 1	Microphthalmia, Low-set ears, Macrotia, Ptosis, Overlapping toe, Facial hypertrichosis, Hypertric...	OMIM:600118
Ring Chromosome 12 Syndrome	Breast hypoplasia, Abnormal 5th finger morphology, Microtia, Hirsutism, Dystrophic toenail, Low-s...	ORPHA:1439
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Brachydactyly, Short 5th finger, Atrial septal defect, Aplasia/Hypoplasia of...	ORPHA:52056
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Slender long bone, Flared metaphysis, Brachydactyly, Micropenis	OMIM:602361
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transverse palmar crease...	OMIM:311900
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Microtia, Hirsutism, Synophrys, Umbilical hernia, Pulmonic stenosis, Hip dyspla...	OMIM:616977
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Bilateral ptosis, Corneal neovascularization, Tarsal sclerosis, Sclerosis of finge...	ORPHA:404454
Acrofrontofacionasal Dysostosis 2	Low-set ears, Broad thumb, Ptosis, Hand polydactyly, Downslanted palpebral fissures, Posteriorly ...	OMIM:239710
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Sensorineural hearing impairment...	ORPHA:3224
Nephronophthisis 15	Polydactyly, Nephronophthisis	OMIM:614845
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Bilateral talipes equinovarus, Hand clenching, Flexion contracture of finger, Flat occiput, Adduc...	ORPHA:319332
Proteus-Like Syndrome	Retinal detachment, Heterochromia iridis, Downslanted palpebral fissures, Cataract, Limbal dermoi...	ORPHA:2969
Adenylosuccinate Lyase Deficiency	Brachycephaly, Short nose, Anteverted nares, Hypointensity of cerebral white matter on MRI, Micro...	ORPHA:46
Spastic Paraplegia 45, Autosomal Recessive	Hypoplasia of the corpus callosum, Talipes equinovarus, Dysplastic corpus callosum	OMIM:613162
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Oculoauriculofrontonasal Syndrome	Conductive hearing impairment, Microtia, Limbal dermoid, Upper eyelid coloboma	ORPHA:398156
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Talipes equinovarus	ORPHA:85338
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Microphthalmia, Synophrys	ORPHA:261272
Alopecia-Intellectual Disability Syndrome	Split hand, Sparse scalp hair, Hearing impairment, Macrotia, Sparse body hair, Brachydactyly, Apl...	ORPHA:2850
Czeizel-Losonci Syndrome	Hypoplastic helices, Low-set, posteriorly rotated ears, Spina bifida occulta, Hitchhiker thumb, H...	ORPHA:2437
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ectopic kidney, Foot polydactyly, Short palm, Chorioretinal coloboma, Eyelid colo...	ORPHA:268249
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm	ORPHA:2140
Familial Dysautonomia	Optic atrophy, Abnormality of the kidney, Glomerulopathy, Corneal erosion, Orthostatic hypotensio...	ORPHA:1764
Li-Campeau Syndrome	Patellar hypoplasia, Single transverse palmar crease, Patent foramen ovale, Low-set ears, Thick e...	OMIM:619189
Ring Chromosome 10 Syndrome	Microphthalmia, Sandal gap, Abnormal antihelix morphology, Low-set ears, Downslanted palpebral fi...	ORPHA:1438
Acromicric Dysplasia	Short long bone, Short metacarpal, Short foot, Long eyelashes, Short palm, Short phalanx of finge...	OMIM:102370
Syndromic X-Linked Intellectual Disability 7	Sparse body hair, Tapered finger	ORPHA:85274
Microphthalmia, Syndromic 8	Split foot, Short palpebral fissure, Microphthalmia, Blepharophimosis	OMIM:601349
Curry-Jones Syndrome	Microphthalmia, Finger syndactyly, Foot polydactyly, Broad thumb, Abnormality of thumb phalanx, O...	ORPHA:1553
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Corneal opacity, Synostosis of carpal bones, Megalocornea, Micromelia,...	ORPHA:2741
Kagami-Ogata Syndrome	Microtia, Pulmonary arterial hypertension, Frontal hirsutism, Pulmonic stenosis, Long fingers, Li...	OMIM:608149
Jackson-Weiss Syndrome	Convex nasal ridge, Abnormal fibula morphology, Turricephaly, Short metatarsal, 2-3 toe syndactyl...	ORPHA:1540
Distal Duplication 18Q	Bilateral single transverse palmar creases, Short nose, Clinodactyly of the 5th finger, Hypoplasi...	ORPHA:1716
Late-Onset Retinal Degeneration	Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina...	ORPHA:67042
Joubert Syndrome 16	Polydactyly, Nephronophthisis, Encephalocele, Dandy-Walker malformation, Coloboma, Renal cyst	OMIM:614465
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Capitate-hamate fusion, Short nose, Genu valgum, Irregular epiphyses of ...	OMIM:614078
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis, Recurrent urinary tract infections, Nephrolithiasis, Fetal pyelectasis, Megacystis	OMIM:619365
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Highly arched eyebrow, Overlapping toe, Long toe, Patent foramen ovale, Posteriorly rotated ears,...	OMIM:618316
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ...	OMIM:136800
Eem Syndrome	Finger syndactyly, Sparse scalp hair, Ectrodactyly, Absent eyebrow, Sparse body hair, Abnormality...	ORPHA:1897
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Hypoplasia of the corpus callosum, Short nose, Talipes, Death in infancy, Microcephaly, Camptodac...	ORPHA:1495
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Weiss-Kruszka Syndrome	Dysplastic corpus callosum, Short nose, Clinodactyly of the 5th finger, Proximal placement of thu...	ORPHA:502430
Cataract 47	Cataract, Glycosuria, Microcornea	OMIM:612018
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Marfan Syndrome	Limited elbow extension, Congestive heart failure, Astigmatism, Aortic regurgitation, Hammertoe, ...	OMIM:154700
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Unilateral renal agenesis, Prominent fingertip pads, Renal hypoplasia, Hydronephr...	OMIM:618494
Stickler Syndrome, Type Iv	Astigmatism, Genu valgum, Flat capital femoral epiphysis, Chorioretinal degeneration, Hypoplastic...	OMIM:614134
Contractures-Developmental Delay-Pierre Robin Syndrome	Abnormal finger morphology, Microtia, Wrist flexion contracture, Metatarsus adductus, Arachnodact...	ORPHA:436003
Chopra-Amiel-Gordon Syndrome	Upslanted palpebral fissure, Unilateral renal agenesis, Almond-shaped palpebral fissure	OMIM:619504
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris	ORPHA:169090
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Clinodactyly of the 5th finger, Shoulder flexion contracture, Metacarpophalan...	OMIM:619110
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Microphthalmia, Hyperpigmentation of the skin, Microtia, Cafe-au-lait s...	OMIM:603467
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Short-Rib Thoracic Dysplasia 12	Short finger, Cystic renal dysplasia, Anencephaly, Hydrocephalus, Short long bone, Short palm, Br...	OMIM:269860
Meckel Syndrome, Type 1	Occipital encephalocele, Radial deviation of finger, Anencephaly, Microcephaly, Syndactyly, Ventr...	OMIM:249000
Congenital Hydrocephalus	Abnormal cortical gyration, Lissencephaly, Hydrocephalus, Small cerebral cortex, Frontal bossing,...	ORPHA:2185
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia	OMIM:614100
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Genu valgum, Delayed pubic bone ossification, Proximal placement of thumb, Talipes equinovarus, H...	OMIM:613330
Temple-Baraitser Syndrome	Adducted thumb, Pseudoepiphysis of the thumb, Proximal placement of thumb, Hypoplastic thumbnail,...	OMIM:611816
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Low-set ears, Broad thumb, Ptosis, Abnormal toenail morphology, Downslanted pa...	ORPHA:2211
Summitt Syndrome	Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,...	ORPHA:3210
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Upper limb amyotrophy, Talipes equinovarus	ORPHA:99940
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Alkuraya-Kucinskas Syndrome	Adducted thumb, Overlapping toe, Ventriculomegaly, Clinodactyly, Hydrocephalus, Dandy-Walker malf...	OMIM:617822
Congenital Herpes Simplex Virus Infection	Microcephaly, Hydranencephaly	ORPHA:293
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Microcephaly, Short middle phalanx of finger, Brachydactyly, Micropenis, Wide nasal ...	OMIM:612626
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Cer...	OMIM:604213
Kleeblattschaedel	Hydrocephalus, Cloverleaf skull, Elbow ankylosis, Craniosynostosis	OMIM:148800
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Highly arched eyebrow, Bilateral sensorine...	OMIM:605282
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Dandy-Walker malformation, Postaxial hand polydactyly, Dilated fourth ventricle, F...	OMIM:220220
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Rocker bottom foot, Unilateral renal agenesis, Sandal gap, Highly arched eyebrow, Single transver...	OMIM:619951
Developmental And Epileptic Encephalopathy 36	Cerebral atrophy, Hydrocephalus, Anteverted nares, Microcephaly, Small hand	OMIM:300884
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, ...	OMIM:613443
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract...	ORPHA:2714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Developmental cataract, Posterior synechiae of the anterior cha...	OMIM:613154
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Ectopic kidney, Unilateral renal agenesis	OMIM:601076
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Microtia, Neonatal death	OMIM:612138
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay...	ORPHA:1856
Momo Syndrome	Short sternum, Downslanted palpebral fissures, Underfolded helix, Large hands, Epicanthus, Hyperc...	OMIM:157980
Joubert Syndrome 20	Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly	OMIM:614970
Oculomaxillofacial Dysostosis	Sparse or absent eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Corneal opac...	ORPHA:1794
Trichothiodystrophy 9, Nonphotosensitive	Nail dystrophy, Tiger tail banding, Sparse eyebrow, Brachydactyly, Sparse hair	OMIM:619692
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Humero-Radial Synostosis	Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia ...	ORPHA:3265
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Bilateral microphthalmos, Right aortic arch with mirror image br...	OMIM:601186
Fanconi Anemia	Microphthalmia, Renal hypoplasia/aplasia, Abnormal femur morphology, Abnormal renal morphology, A...	ORPHA:84
Temtamy Syndrome	Convex nasal ridge, Iris coloboma, Short 2nd toe, Frontal bossing, Chorioretinal coloboma, Agenes...	OMIM:218340
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Prominent nose,...	OMIM:616171
Hypertelorism, Microtia, Facial Clefting Syndrome	2-3 toe syndactyly, Microtia, Atresia of the external auditory canal, Conductive hearing impairme...	OMIM:239800
Diabetic Embryopathy	Transposition of the great arteries, Low-set, posteriorly rotated ears, Hydrocephalus, Microtia, ...	ORPHA:1926
Blepharonasofacial Malformation Syndrome	Telecanthus, Finger syndactyly, Abnormal pinna morphology, Abnormal eyelash morphology, Low poste...	ORPHA:1252
Heterotaxy, Visceral, 4, Autosomal	Transposition of the great arteries, Right aortic arch, Pulmonary artery atresia, Total anomalous...	OMIM:613751
Emanuel Syndrome	Astigmatism, Unilateral renal agenesis, Recurrent urinary tract infections, Upslanted palpebral f...	OMIM:609029
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	Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio...	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	Radial deviation of finger, Absent thumb, Sparse lower eyelashes, Absent radius, Overlapping toe,...	OMIM:154400
Split-Foot Deformity With Mandibulofacial Dysostosis	Split foot, Toe syndactyly, Split hand	OMIM:183700
Multicentric Carpotarsal Osteolysis Syndrome	Wrist swelling, Metacarpal osteolysis, Carpal osteolysis, Hypertension, Corneal opacity, Ulnar de...	OMIM:166300
Arthrogryposis, Distal, Type 2E	Microcephaly, Talipes equinovarus, Foot joint contracture, Joint contracture of the hand	OMIM:121070
Nescav Syndrome	Microcephaly, Cerebral atrophy, Talipes equinovarus	OMIM:614255
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ...	OMIM:212550
Acromicric Dysplasia	Short nose, Abnormal femur morphology, Anteverted nares, Short metacarpal, Short palm, Fifth meta...	ORPHA:969
Limb-Mammary Syndrome	Nail dysplasia, Protruding ear, Clinodactyly of the 5th finger, Breast aplasia, Hypoplastic nippl...	ORPHA:69085
Joubert Syndrome 24	Polymicrogyria, Postaxial hand polydactyly, Postaxial foot polydactyly, Pachygyria, Cerebellar hy...	OMIM:616654
Arthrogryposis, Distal, Type 2B3	Camptodactyly, Ulnar deviation of the hand, Adducted thumb, Hallux valgus, Overlapping fingers, T...	OMIM:618436
Cockayne Syndrome B	Optic atrophy, Microphthalmia, Square pelvis bone, Renal insufficiency, Hypoplastic iliac wing, M...	OMIM:133540
Diaphragmatic Hernia 2	Congenital diaphragmatic hernia, Agenesis of the diaphragm	OMIM:222400
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Small hypothenar eminence, Small the...	OMIM:211960
Adams-Oliver Syndrome 2	Microphthalmia, Small nail, Single transverse palmar crease, Absent distal phalanges, Low-set ear...	OMIM:614219
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Brachydactyly-Preaxial Hallux Varus Syndrome	Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Frontal bossing, Brachydactyly...	ORPHA:1278
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Postaxial polydactyly, Downslanted palpebral fissures, Deviation of th...	OMIM:616362
Bresek Syndrome	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Postaxial hand polydactyly, Low-set ears, ...	ORPHA:85284
Meckel Syndrome, Type 9	Multicystic kidney dysplasia, Occipital encephalocele, Limb undergrowth, Talipes equinovarus	OMIM:614209
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypoplastic iliac wing, Microtia, Tibial bowing, Short distal phalanx of finger, Cone-shaped epip...	OMIM:210720
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short 4th metacarpal, Cubitus valgus, Hydrocephalus, Low posterior hairline, Mitral valve prolaps...	ORPHA:2183
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Posterior subcapsular cataract, Telecanthus, Microcornea, Chorioretinal degeneration	OMIM:615458
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Abnormality of the calcaneus, Depr...	ORPHA:163966
Jacobsen Syndrome	Ectropion, Aplasia/Hypoplasia of the eyebrow, Finger syndactyly, Microcornea, Aortic valve stenos...	ORPHA:2308
Takenouchi-Kosaki Syndrome	Optic atrophy, Proximal placement of thumb, Unilateral renal agenesis, Hypospadias, Highly arched...	OMIM:616737
Atelosteogenesis, Type Ii	Stillbirth, Sandal gap, Bifid humerus, Hitchhiker thumb, Short greater sciatic notch, Flat acetab...	OMIM:256050
Diprosopus	Abnormality of the nose, Anencephaly	ORPHA:1681
Scalp-Ear-Nipple Syndrome	Abnormality of the kidney, Palpebral edema, Ureteral duplication, Telecanthus, Recurrent urinary ...	ORPHA:2036
Desbuquois Dysplasia 1	Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Triangul...	OMIM:251450
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Peroneal muscle atrophy, Talipes equinovarus	OMIM:181400
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Short nose, Clinodactyly of the 5th finger, Abnormal metacarpal m...	ORPHA:2370
Nabais Sa-De Vries Syndrome, Type 2	Clinodactyly of the 5th finger, Microtia, Low-set ears, Sparse eyebrow, Posteriorly rotated ears,...	OMIM:618829
Vacterl/Vater Association	Occipital encephalocele, Anencephaly, Ectopic kidney, Hypoplasia of penis, Finger syndactyly, Hyp...	ORPHA:887
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos	OMIM:251750
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Prominent occiput, Femoral bowing, Bifid first metacarpal, Short metacarpal,...	OMIM:210710
Oligomeganephronia	Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn...	ORPHA:2260
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Premature ovarian insufficiency, Telecanthus, Highly arched eyebrow, Ptosis, Spar...	OMIM:110100
Facial Spasm	Anisocoria	OMIM:134300
Filippi Syndrome	Finger clinodactyly, Single transverse palmar crease, Ventricular septal defect, Frontal hirsutis...	OMIM:272440
Suleiman-El-Hattab Syndrome	Polydactyly, Recurrent respiratory infections, Highly arched eyebrow, Single transverse palmar cr...	OMIM:618950
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Arachnodactyly, Clinodactyly, Large fleshy ears, Syndactyly, Upslanted palpebral fi...	OMIM:619092
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Cortical dysplasia, Abnormal corpus callosum morphology, Microcephaly, Ventriculom...	OMIM:618709
Ehlers-Danlos Syndrome, Classic Type, 2	Recurrent sinusitis, Talipes equinovarus, Congenital hip dislocation	OMIM:130010
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Thin corpus callosum, Cerebral calcification, Corpus callosum atrophy, Microcephaly, Colpocephaly...	OMIM:620371
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp...	ORPHA:1808
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia, Agenesis of corpus callosum	OMIM:166990
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Low-set ears, Arachnodactyly, Sparse eyebrow, Short palm, Downslanted palpebra...	ORPHA:73246
Knobloch Syndrome 1	Iris transillumination defect, Duplicated collecting system, Telecanthus, Retinal detachment, Ban...	OMIM:267750
Tukel Syndrome	Carpal bone aplasia, Ptosis, Carpal synostosis, Syndactyly, Congenital fibrosis of extraocular mu...	OMIM:609428
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hypoplasia of the corpus callosum, Femur fracture, Adducted thumb, Spina bifida occulta, Cerebell...	OMIM:618291
Brachydactyly Type A1	Hypoplasia of the ulna, Cone-shaped epiphysis, Clinodactyly of the 5th finger, Distal symphalangi...	ORPHA:93388
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy...	ORPHA:33445
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Cystoid macular edema, C...	ORPHA:91500
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, Finger syndactyly, Abnormal eyelid morphology, Low-set ears, Sparse eyelash...	ORPHA:1787
Glutamine Deficiency, Congenital	Hypoplasia of the corpus callosum, Decreased CSF glutamine concentration, Subependymal cysts, Sho...	OMIM:610015
Griscelli Syndrome, Type 2	Death in childhood, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentatio...	OMIM:607624
Gordon Syndrome	Hearing impairment, Camptodactyly of finger, Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:376
Brachydactyly, Type B1	Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br...	OMIM:113000
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Vitreous hemorrhage, Macular edema, Macular exudate, Chor...	ORPHA:891
Fg Syndrome Type 1	Abnormal thumb morphology, Atrial septal defect, Clinodactyly of the 2nd finger, Finger syndactyl...	ORPHA:93932
2Q32Q33 Microdeletion Syndrome	Brachycephaly, Convex nasal ridge, Clinodactyly of the 5th finger, Anteverted nares, Microcephaly...	ORPHA:251019
Albinism, Oculocutaneous, Type Iv	Macular hypoplasia, Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Sagittal craniosynostosis	OMIM:123155
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Meckel Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Ureteral duplication, Anophthal...	ORPHA:564
Hemifacial Microsomia With Radial Defects	Triphalangeal thumb, Microtia, Atresia of the external auditory canal, Conductive hearing impairm...	OMIM:141400
Aplasia Cutis Congenita	Skin ulcer, Finger syndactyly, Toe syndactyly, Spinal dysraphism, Calvarial skull defect, Erythema	ORPHA:1114
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Craniofrontonasal Dysplasia	Hypoplasia of the corpus callosum, Brachycephaly, Plagiocephaly, Midline defect of the nose, Clin...	ORPHA:1520
Chromosome 8Q22.1 Duplication Syndrome	Narrow palpebral fissure, Short palpebral fissure, Cubitus valgus, Short metatarsal, Short metaca...	OMIM:151200
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Small nail, Microtia, Clinodactyly, Medial flaring of the eyebrow, Cafe-au-lait spot, Increased f...	OMIM:620494
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, E...	OMIM:616300
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal erosion, Corneal dystrophy, Corneal opacity, Opacification of the cornea...	OMIM:608470
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Congenital diaphragmatic hernia, Abnormality of the diaphragm, Omphalocele	OMIM:601163
Iniencephaly	Rocker bottom foot, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformat...	ORPHA:63259
Braddock Syndrome	Blepharophimosis, Unilateral renal agenesis, Epicanthus	ORPHA:52047
Cardiofaciocutaneous Syndrome 2	Low-set ears, Absent eyebrow, Curly hair, Posteriorly rotated ears, Sparse hair, Mitral valve pro...	OMIM:615278
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Camptodactyly, Renal cyst, Postaxial polydacty...	OMIM:614815
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Stage 5 chronic kidney disease, Short long bone, Brachydactyly	OMIM:613819
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Microcephaly, T...	OMIM:618506
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm	OMIM:613780
Pentalogy Of Cantrell	Abnormal tibia morphology, Anencephaly, Encephalocele, Talipes, Hydrocephalus, Hypospadias, Split...	ORPHA:1335
Mesoaxial Hexadactyly And Cardiac Malformation	Pulmonic stenosis, Hand polydactyly, Atrial septal defect, Ventricular septal defect, Abnormal 3r...	OMIM:249670
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Telecanthus, Fl...	OMIM:617102
Emanuel Syndrome	Astigmatism, Unilateral renal agenesis, Hooded eyelid, Upslanted palpebral fissure, Congenital hi...	ORPHA:96170
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Cutis Laxa, Autosomal Recessive, Type Iie	Convex nasal ridge, Copper beaten skull, Clinodactyly of the 5th finger, Deep palmar crease, Cuti...	OMIM:619451
Clark-Baraitser Syndrome	Brachycephaly, Short nose, Sandal gap, Low hanging columella, Anteverted nares, Microcephaly, Dol...	OMIM:617752
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pads, Broad thumb, Arachnodactyl...	OMIM:619721
Baraitser-Winter Syndrome 2	Microphthalmia, Telecanthus, Highly arched eyebrow, Abnormal pinna morphology, Hearing impairment...	OMIM:614583
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Genu valgum, Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Verheij Syndrome	Cerebral atrophy, Short nose, Optic nerve hypoplasia, Coloboma, Anteverted nares, Renal cyst, Mic...	OMIM:615583
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Central Y-shaped metac...	ORPHA:2754
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Retinal detachment, Pe...	ORPHA:464311
Williams-Beuren Region Duplication Syndrome	Horizontal eyebrow, Hydronephrosis, Unilateral renal agenesis, Long eyelashes	OMIM:609757
22Q11.2 Deletion Syndrome	Microphthalmia, Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis, Ara...	ORPHA:567
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Ectropion, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Lethal Acantholytic Erosive Disorder	Absent hair, Clinodactyly of the 5th finger, Absent eyelashes, 4-5 finger syndactyly, Abnormal pi...	ORPHA:158687
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Heteroch...	OMIM:613265
Anauxetic Dysplasia 2	Nail dysplasia, Cubitus valgus, Small nail, Hypoplasia of the femoral head, Coxa vara, Hypoplasti...	OMIM:617396
Prader-Willi Syndrome Due To Imprinting Mutation	Abnormal ulnar metaphysis morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Nar...	ORPHA:177910
Microphthalmia, Lenz Type	Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Clinodactyly of the 5th finge...	ORPHA:568
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Recurrent otitis media, Microtia, Hearing impairment, Abnormal palmar dermatoglyp...	ORPHA:2728
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Pes cavus, Upper limb amyotrophy, Talipes equinovarus	OMIM:617087
Bardet-Biedl Syndrome 16	Polydactyly, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst	OMIM:615993
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Protruding ear, Woolly hair, Sparse hair	OMIM:278200
Constricting Bands, Congenital	Hand polydactyly, Syndactyly, Eyelid coloboma, Bladder exstrophy, Talipes equinovarus	OMIM:217100
Focal Dermal Hypoplasia	Nail dysplasia, Nail dystrophy, Mixed hearing impairment, Microphthalmia, Aniridia, Ridged nail, ...	OMIM:305600
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	High anterior hairline, Microphthalmia, Joint contracture of the 5th finger, Single transverse pa...	OMIM:620098
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Megalencephaly, Genu valgum, Calcium oxalate nephrolithiasis, Hydrocephalus, Dolichocephaly, Thic...	OMIM:248000
Fanconi Anemia, Complementation Group S	Microphthalmia, Proximal placement of thumb, Blepharophimosis, Long eyelashes, Low anterior hairl...	OMIM:617883
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker...	OMIM:108721
Cockayne Syndrome Type 3	Microphthalmia, Retinal atrophy, Cardiomyopathy, Retinal hemorrhage, Cataract, Keratoconjunctivit...	ORPHA:90324
Congenital Disorder Of Glycosylation, Type Id	Cerebral atrophy, Clinodactyly of the 5th toe, Iris coloboma, Microcephaly, Long fingers, Depress...	OMIM:601110
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Macular dystrophy, Clinodactyly of the 5th finger, Ectopic kidney, Aort...	ORPHA:140952
Lissencephaly 8	Hypoplasia of the corpus callosum, Occipital encephalocele, Polymicrogyria, Type II lissencephaly...	OMIM:617255
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Cerebral atrophy, Single transverse palmar crease, Areflexia of lower limbs, ...	OMIM:611890
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Carpal bone hypoplasia, Cubitus valgus, Tapered phalanx of finger, Curly eyelashes, Small epiphys...	OMIM:611717
5Q14.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Short nose, Optic nerve hypoplasia, Frontal cortical atrophy, ...	ORPHA:228384
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Low-set ...	ORPHA:93267
19P13.3 Microduplication Syndrome	Hip subluxation, Microtia, Low-set ears, Pulmonary arterial hypertension, Long fingers, Posterior...	ORPHA:447980
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal	OMIM:112410
Acropectorovertebral Dysplasia	Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum...	ORPHA:957
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Enlarged kidney, Polycystic kid...	OMIM:613091
Odontochondrodysplasia	Abnormal metaphysis morphology, Short nose, Square pelvis bone, Delayed eruption of teeth, Bowing...	ORPHA:166272
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Melanocytic nevus, Ap...	ORPHA:1818
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Abnormal vitreous humor morphol...	ORPHA:649
Vacterl With Hydrocephalus	Hypoplasia of the radius, Aqueductal stenosis, Microphthalmia, Anophthalmia, Hydrocephalus, Micro...	ORPHA:3412
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Patent foram...	OMIM:618914
Miller-Dieker Syndrome	Hypoplasia of the corpus callosum, Short nose, Clinodactyly of the 5th finger, Anteverted nares, ...	ORPHA:531
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Microphthalmia, Anophthalmia	ORPHA:2470
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Arachnodactyly, Abnormality of retinal pigmentation, Cataract, L...	ORPHA:171844
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Intellectual Developmental Disorder, Autosomal Dominant 66	Transposition of the great arteries, Clinodactyly of the 5th finger, Low-set ears, Toe clinodacty...	OMIM:619910
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ...	ORPHA:794
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age...	ORPHA:411709
Femoral-Facial Syndrome	Abnormal fibula morphology, Short nose, Long penis, Polycystic kidney dysplasia, Hip dysplasia, A...	ORPHA:1988
Arthrogryposis, Distal, Type 1A	Rocker bottom foot, Single transverse palmar crease, Elbow flexion contracture, Ulnar deviation o...	OMIM:108120
Hereditary Pheochromocytoma-Paraganglioma	Congestive heart failure, Hematuria, Aniridia, Glomerular sclerosis, Hypertension associated with...	ORPHA:29072
Trichorhinophalangeal Syndrome, Type Iii	Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Protruding ear, Short me...	OMIM:190351
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Blepharoptosis, Myopia, And Ectopia Lentis	Congenital ptosis, Ectopia lentis	OMIM:110150
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Abnormal nasal morphol...	ORPHA:83473
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Large hands, Broad nasal tip	ORPHA:85287
Coach Syndrome 1	Nephronophthisis, Unilateral renal agenesis, Hypertension, Postaxial hand polydactyly, Portal hyp...	OMIM:216360
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrial septal defect, Atrioventricular canal defect, Triphalangea...	ORPHA:392
Short Stature, Microcephaly, And Endocrine Dysfunction	Ectopic kidney, Unilateral renal agenesis, Renal hypoplasia, Limb undergrowth, Cataract, Dilated ...	OMIM:616541
Treacher Collins Syndrome 1	Preauricular hair displacement, Bilateral microphthalmos, Upper eyelid coloboma, Microtia, Atresi...	OMIM:154500
Thymic-Renal-Anal-Lung Dysplasia	Renal agenesis, Ureteral agenesis, Ureteral dysgenesis	OMIM:274265
Congenital Disorder Of Glycosylation, Type Iih	Clinodactyly of the 3rd toe, Bilateral coxa valga, Clinodactyly of the 4th toe, Microcephaly, Dep...	OMIM:611182
Xk Aprosencephaly Syndrome	Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect, Microphthalmia	ORPHA:3469
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Abnormal metacarpal morphology, Curly eyelashes, Sandal gap, High...	ORPHA:3051
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Recurrent bronchopulmonary infections, Hypopigmentation of hair	ORPHA:90023
Pontocerebellar Hypoplasia, Type 11	Hypoplasia of the corpus callosum, Coloboma, Microcephaly, Hypoplasia of the pons, Agenesis of co...	OMIM:617695
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Rhizomelia, Hydrocephalus, Metaphyseal cupping, Hypoplasia of the calcaneus, Hypoplas...	OMIM:300863
Ivic Syndrome	Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H...	OMIM:147750
Fg Syndrome 3	Sensorineural hearing impairment, Death in infancy, Broad thumb, Broad hallux, Sparse hair, Front...	OMIM:300406
Acromelic Frontonasal Dysplasia	Brachycephaly, Patellar hypoplasia, Encephalocele, Meningocele, Choroid plexus cyst, Bifid nasal ...	ORPHA:1827
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Prominent occiput, Dislocated radial head, Femoral bo...	OMIM:311300
Erythema Of Acral Regions	Erythema, Talipes equinovarus	OMIM:227000
Intellectual Developmental Disorder, Autosomal Dominant 39	Cerebral atrophy, Thin corpus callosum, Wide nasal base, Hydrocephalus, Bilateral talipes equinov...	OMIM:616521
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Nail dysplasia, Breast hypoplasia, Rhizomelia, Short metatarsal, Small nail, Microtia, Low-set ea...	OMIM:614813
Beemer Lethal Malformation Syndrome	Hydrocephalus, Wide nasal bridge	OMIM:209970
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia, Multiple cafe-au-lait spots	OMIM:614082
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Hypertension, Posteriorly rotated ears, Hyperconvex nail...	OMIM:613870
Charcot-Marie-Tooth Disease, Type 4H	Pes cavus, Distal lower limb muscle weakness, Small hypothenar eminence, Small thenar eminence, T...	OMIM:609311
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ...	OMIM:613092
Oculoectodermal Syndrome	Astigmatism, Chorioretinal atrophy, Microcornea, Transient ischemic attack, Hypertrophic cardiomy...	OMIM:600268
Chromosome 6Q11-Q14 Deletion Syndrome	Pes cavus, Short nose, Single transverse palmar crease, Microcephaly, Broad nasal tip, Prominent ...	OMIM:613544
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Cerebral atrophy, Bilateral talipes equinovarus, Prominent nose, Finger clinodactyly, Patellar su...	ORPHA:2958
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Absent fingernail...	OMIM:609638
Holoprosencephaly 5	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Anteverted nares, Syntelenc...	OMIM:609637
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Plagiocephaly, Coloboma, Frontal bossing, Depressed nasal bridge, Bulbous nose, Cl...	OMIM:616789
Gómez-López-Hernández Syndrome	Brachycephaly, Turricephaly, Hydrocephalus, Anteverted nares, Cerebellar vermis hypoplasia	ORPHA:1532
Wound Botulism	Ptosis, Mydriasis, Urinary retention, Cardiac arrest	ORPHA:178475
Intellectual Developmental Disorder, Autosomal Recessive 61	Hypoplasia of the corpus callosum, Pes cavus, Secondary microcephaly, Prominent fingertip pads, L...	OMIM:617773
Coffin-Siris Syndrome 5	Sandal gap, Dystrophic toenail, Sparse scalp hair, Long eyelashes, Arachnodactyly, Low anterior h...	OMIM:616938
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Abnormal antihelix morphology,...	ORPHA:1005
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Cerebral atrophy, Brachycephaly, Short nose, Camptodactyly, Bilateral talipes equinovarus, Arachn...	OMIM:615539
Hydrolethalus Syndrome 1	Stillbirth, Midline defect of the nose, Abnormal cortical gyration, Anencephaly, Talipes equinova...	OMIM:236680
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Astigmatism, Clinodactyly of the 5th finger, Aortic regurgitation, Hypospadias, Unil...	ORPHA:464306
Orofaciodigital Syndrome Xvii	Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Renal hypoplasia, Partial duplicat...	OMIM:617926
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Abnormality of the palmar creases, Sensorineural hearing impairment, Patent foram...	OMIM:618652
Marfan Syndrome	Congestive heart failure, Limited elbow movement, Abnormal left ventricular function, Aortic regu...	ORPHA:558
Microphthalmia/Coloboma 9	Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Retinal detachment, Microco...	OMIM:615145
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Short clavicles, Microtia, Recurrent shoulder dislocation, Cardiomyopathy, Finger joint contractu...	OMIM:212112
Iatrogenic Botulism	Mydriasis, Urinary retention, Ptosis, Orthostatic hypotension	ORPHA:254509
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Catifa Syndrome	Microtia, Camptodactyly	OMIM:618761
Martsolf Syndrome 1	Microphthalmia, Slender ulna, Short metacarpal, Low posterior hairline, Broad femoral neck, Promi...	OMIM:212720
Acrootoocular Syndrome	Abnormal earlobe morphology, Sandal gap, Hyperpigmented nevi, Sensorineural hearing impairment, S...	ORPHA:2980
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo...	ORPHA:1515
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Sensorineural ...	ORPHA:2885
Camptodactyly Syndrome, Guadalajara Type 2	Short 5th toe, Patellar hypoplasia, Short 2nd toe, Microcephaly, Camptodactyly of finger, Short 3...	ORPHA:1326
Braddock-Carey Syndrome 1	Camptodactyly, Curly hair, Macrotia, Posteriorly rotated ears, Sparse hair, Ventricular septal de...	OMIM:619980
Meacham Syndrome	Transposition of the great arteries, Partial anomalous pulmonary venous return, Cardiac total ano...	OMIM:608978
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Weill-Marchesani Syndrome 3	Microspherophakia, Pulmonic stenosis, Aortic valve stenosis, Ectopia lentis, Shallow anterior cha...	OMIM:614819
Juberg-Hayward Syndrome	Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Hy...	ORPHA:2319
Microphthalmia, Syndromic 2	Microphthalmia, Sandal gap, Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve ste...	OMIM:300166
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati...	OMIM:620019
Pseudoachondroplasia	Short long bone, Flat acetabular roof, Hypoplastic pelvis, Metaphyseal irregularity, Shortening o...	ORPHA:750
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Wiedemann-Steiner Syndrome	Broad lateral eyebrow, Highly arched eyebrow, Generalized hypertrichosis, Low posterior hairline,...	OMIM:605130
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Death in childhood, Lissencephaly, Hydrocephalus, Dandy-Walker malformation, Type II lissencephal...	OMIM:613153
Congenital Fibrosis Of Extraocular Muscles	Congenital fibrosis of extraocular muscles, Optic nerve hypoplasia, Finger aplasia, Anisocoria, L...	ORPHA:45358
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Microtia, Abnormal pelvic girdle bone...	ORPHA:1788
Teebi-Shaltout Syndrome	Rocker bottom foot, Caudal appendage, Hypoplastic helices, Microphthalmia, Highly arched eyebrow,...	OMIM:272950
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Microtia, Low-set ears, Slender finger, Atresia of the external audi...	OMIM:610536
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Ascending aortic dissection, Descending aortic dissection, Coronary a...	OMIM:615436
Monosomy 18P	Microphthalmia, Abnormal antihelix morphology, Low posterior hairline, Macrotia, Ptosis, Brachyda...	ORPHA:1598
Microcephaly 6, Primary, Autosomal Recessive	Microtia	OMIM:608393
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Pes cavus, Distal lower limb muscle weakness, Knee flexion contracture, Scapular winging, Hip dys...	OMIM:615290
Hyperekplexia 4	Cerebral atrophy, Camptodactyly, Umbilical hernia, Adducted thumb, Talipes equinovarus	OMIM:618011
Edinburgh Malformation Syndrome	Short nose, Hydrocephalus, Anteverted nares, Choanal atresia, Slender finger, Frontal bossing, Lo...	ORPHA:1895
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Hypoplasia of the corpus callosum, Stillbirth, Patellar hypoplasia, Absent tibia, Bilateral talip...	OMIM:119800
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Lacrimal duct atresia, Iris coloboma	ORPHA:139450
2Q31.1 Microdeletion Syndrome	Microphthalmia, Sandal gap, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metac...	ORPHA:251014
Frontal Encephalocele	Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Dolichocephaly, Aplasia/Hypop...	ORPHA:1931
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of...	ORPHA:99050
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Microphthalmia, Death in childhood, Hearing impairment, Camptodactyly of fing...	OMIM:610756
Proximal 16P11.2 Microduplication Syndrome	Microtia, Sparse eyelashes, Arachnodactyly, Sparse eyebrow, Abnormality of the hairline	ORPHA:370079
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Clinodactyly of the 5th finger, Meningocele, Anteverted nares, Biparietal narrowing, ...	ORPHA:2031
Heterotaxy, Visceral, 6, Autosomal	Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Total anom...	OMIM:614779
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus, Brachycephaly, Lateral ventricle dilatation, Short corpus callosum	OMIM:619972
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Microphthalmia, Hypoplast...	OMIM:617925
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Broad eyebrow, Microtia, Synophrys, Horizontal eyebrow, Long eyelashes, Hearing impairment, Poste...	OMIM:620475
Xq27.3Q28 Duplication Syndrome	Sparse body hair, Short foot, Small hand	ORPHA:261483
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Aplasi...	ORPHA:3409
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Acrofacial Dysostosis, Cincinnati Type	Upper eyelid coloboma, Microtia, Femoral bowing, Ablepharon, Pterygium, Hearing impairment, Downs...	OMIM:616462
Cofs Syndrome	Microphthalmia, Sensorineural hearing impairment, Death in infancy, Camptodactyly of finger, Abno...	ORPHA:1466
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Secondary microcephaly, Hypoplasia of the corpus callosum, Hydrocephalus, Reduced cerebral white ...	OMIM:618174
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis, Anisocoria	ORPHA:289483
Juvenile Glaucoma	Abnormal anterior chamber morphology, Temporal optic disc pallor, Abnormality iris morphology, Re...	ORPHA:98977
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Talipes equinovarus, Hip dislo...	OMIM:616756
Oculofaciocardiodental Syndrome	Microphthalmia, Genu valgum, Cubitus valgus, Hammertoe, Clinodactyly of the 5th finger, Highly ar...	ORPHA:2712
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r...	OMIM:609945
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop...	ORPHA:950
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormality of the hand, Bilateral microphthalmos, Patent foramen ovale, Low-set ears, Camptodact...	ORPHA:369891
Arthrogryposis, Distal, Type 4	Equinovarus deformity, Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Single transve...	OMIM:609128
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Underdeveloped nasal alae, Elbow flexion contracture, Camptodactyly...	OMIM:277720
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microphthalmia, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, ...	OMIM:152950
Al-Raqad Syndrome	Sandal gap, Low-set ears, Hypopigmentation of the skin, Brachydactyly, Atrial septal defect	OMIM:616459
Carpenter Syndrome 1	Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu...	OMIM:201000
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Short iliac bones, Chronic tubulointerstitial nephritis, Rhizomelia, Broad long bone diaphyses, A...	OMIM:614376
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the...	ORPHA:2557
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus	ORPHA:1455
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Encephalocele, Hydrocephalus, Cloverleaf skull, Redundant skin, M...	ORPHA:93274
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Retinal detachment, Abnormality of the upper limb, Short lower limbs, Displace...	ORPHA:1556
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb muscle weakness, Elbow flexion contracture, Proximal lower limb amyotrophy, Hip...	OMIM:600175
Myhre Syndrome	Microphthalmia, Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Hy...	OMIM:139210
8Q21.11 Microdeletion Syndrome	Microphthalmia, Abnormal metacarpal morphology, Hypoplasia of penis, Finger syndactyly, Corneal o...	ORPHA:284160
Cornelia De Lange Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Highly arched eyebrow, S...	ORPHA:199
Developmental And Epileptic Encephalopathy 73	Hypoplasia of the corpus callosum, Short nose, Narrow nasal bridge, Microcephaly, Hip dysplasia	OMIM:618379
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,...	OMIM:613270
Meier-Gorlin Syndrome 8	Microtia, Low-set ears	OMIM:617564
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Telecanthus, Synophrys, Hearing impairment, ...	ORPHA:897
Exudative Vitreoretinopathy 6	Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret...	OMIM:616468
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Hirsutism, Unilateral microphthalmos, Unilateral ptosis, Simple ear	OMIM:619318
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Brachydactyly, Epicanthu...	OMIM:258860
Achondroplasia	Limited elbow extension, Narrow greater sciatic notch, Short proximal phalanx of finger, Rhizomel...	ORPHA:15
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Aplastic/hypoplastic toenai...	OMIM:186500
Non-Distal Duplication 10Q	Brachycephaly, Short nose, Microcephaly, Frontal bossing, Convex nasal ridge, Depressed nasal bridge	ORPHA:1695
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Hypospadias, Sandal gap, Synophrys, Postaxial polydactyly, Ptosis...	OMIM:615761
Gand Syndrome	Long fingers, Long toe, Sparse hair	OMIM:615074
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ...	OMIM:617641
Joubert Syndrome 22	Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, Rena...	OMIM:615665
Intestinal Botulism	Mydriasis, Ptosis	ORPHA:178481
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Nail dystrophy, Periorbital hyperpigmentation, Recurrent otitis media, Cone...	ORPHA:261323
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Nail dystrophy, Brittle hair, Abnormal pinna morphology, Postaxial hand polydactyly, Pulmonary ar...	ORPHA:75389
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Low-set ears, Low posterior hairline, Pulmonic stenosis, Aortic valve stenosis, Te...	OMIM:220210
14Q24.1Q24.3 Microdeletion Syndrome	Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus, Pulmonary art...	ORPHA:401935
Kury-Isidor Syndrome	Rocker bottom foot, Astigmatism, Proximal placement of thumb, Finger syndactyly, Ptosis, Downslan...	OMIM:619762
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Low-set ears, Single transverse palmar crease, Microtia, Thick eyebrow	OMIM:620535
Curry-Jones Syndrome	Megalencephaly, Unicoronal synostosis, Bicoronal synostosis, Polymicrogyria, Triphalangeal hallux...	OMIM:601707
Shashi-Pena Syndrome	Unilateral renal agenesis, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis, Epicanthus	OMIM:617190
Ciliary Dyskinesia, Primary, 37	Right aortic arch	OMIM:617577
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Pallister-Hall Syndrome	Nail dysplasia, Microphthalmia, Mesoaxial polydactyly, Microtia, Oligodactyly, Broad thumb, Umbil...	ORPHA:672
Ohdo Syndrome, X-Linked	High anterior hairline, Microphthalmia, Stenosis of the external auditory canal, Microtia, Low-se...	OMIM:300895
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Microcephaly, Short palm, Clinodactyly, Camptodactyly of finger, Prominent nasal bridge, Tapered ...	ORPHA:85279
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Bilateral microphthalmos, Death in childhood, Flexion contracture of toe, Fla...	OMIM:610758
Toxin-Mediated Infectious Botulism	Mydriasis, Ptosis	ORPHA:230800
Rubinstein-Taybi Syndrome	Clinodactyly of the 5th finger, Telecanthus, Highly arched eyebrow, Finger syndactyly, Low-set ea...	ORPHA:783
Acrocallosal Syndrome	Congenital diaphragmatic hernia, Inguinal hernia	ORPHA:36
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Turricephaly, Abnormal metacarpal morphology, Hydrocephalus, Choanal atresia, Fron...	ORPHA:93262
Distal Triplication 15Q	Hydrocephalus, Sensorineural hearing impairment, Abnormal helix morphology, Microtia, Low-set ear...	ORPHA:314588
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Increased CSF lactate, Talipes equinovarus	OMIM:613710
Intellectual Developmental Disorder, Autosomal Dominant 65	Clinodactyly of the 5th finger, Single transverse palmar crease, Low-set ears, Low posterior hair...	OMIM:619320
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Talipes equinovarus	OMIM:208100
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Recurrent otitis media, Clubbing of fingers, Single transverse palmar crease, 2-3 toe syndactyly,...	ORPHA:3304
Fanconi Anemia, Complementation Group J	Short thumb, Microphthalmia, Multiple cafe-au-lait spots	OMIM:609054
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Anteverted nares, Nephropathy, Bipari...	ORPHA:2318
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Hypospadias, Polycystic kidney dysplasia, Short long bone, Flat acetabular roof, Bow...	OMIM:614091
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Unilateral renal agenesis, Proximal tubulopathy, Postaxial polydactyly, Hyperechog...	OMIM:614576
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
1Q21.1 Microdeletion Syndrome	Clinodactyly of the 5th finger, Hydrocephalus, Vesicoureteral reflux, Broad thumb, Microcephaly, ...	ORPHA:250989
Cataract 17, Multiple Types	Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea	OMIM:611544
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Spotty hyperpigmen...	ORPHA:79133
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Depressed nasal ridge, Aplasia/Hypoplasia of the distal ...	ORPHA:1248
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Nail dystrophy, Dystrophic fingernails, Palmoplantar ...	ORPHA:3253
Mosaic Trisomy 1	Rocker bottom foot, Microphthalmia, Small nail, Broad 2nd toe, Abnormal pinna morphology, Arachno...	ORPHA:1692
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly, Renal cyst, Hypospadias	OMIM:605231
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of ...	ORPHA:93307
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Death in childhood, Recurrent respiratory infect...	OMIM:253300
Corpus Callosum, Partial Agenesis Of, X-Linked	Hypoplasia of the corpus callosum, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Dislocat...	OMIM:304100
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Recurrent urinary tract infect...	ORPHA:363444
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Short nose, Deviation of the thumb, Short hallux, Hydrocephalus, Finger synd...	ORPHA:93259
Pseudodiastrophic Dysplasia	Brachycephaly, Rhizomelia, Anteverted nares, Camptodactyly, Frontal bossing, Phalangeal dislocati...	OMIM:264180
Ermine Phenotype	Sensorineural hearing impairment, White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation...	OMIM:227010
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypospadias, Epicanthus, Hypoplastic ischia	OMIM:616910
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Short nose, Depressed nasal bridge	ORPHA:261120
16P12.1P12.3 Triplication Syndrome	Atrial septal defect, Abnormal tricuspid valve morphology, Tachycardia, 2-3 toe syndactyly, Promi...	ORPHA:485405
Squalene Synthase Deficiency	Slender long bone, Optic nerve hypoplasia, 2-3 toe syndactyly, Elbow flexion contracture, Abnorma...	OMIM:618156
Bardet-Biedl Syndrome 19	Y-shaped metacarpals, Postaxial polydactyly, Renal hypoplasia, Hydronephrosis, Mesoaxial hand pol...	OMIM:615996
Brachydactyly-Arterial Hypertension Syndrome	Short phalanx of finger, Short metacarpal, Brachydactyly	ORPHA:1276
Branchiootorenal Syndrome 1	Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst...	OMIM:113650
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Talipes equinovarus, Scarring alopecia of scalp, Abnormality of the nail, Sensori...	ORPHA:35173
Spastic Paraplegia 55, Autosomal Recessive	Hypoplasia of the corpus callosum, Talipes equinovarus	OMIM:615035
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Parietal foramina, Calcification of falx cerebri, Bifid nasal tip, Syndac...	OMIM:603671
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis	OMIM:618504
Neurooculorenal Syndrome	Unilateral renal agenesis, Short hallux, Highly arched eyebrow, Bilateral renal agenesis, Iris at...	OMIM:620305
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Microphthalmia, Unilateral renal agenesis, Ectopic kidney, Pelvic kidne...	OMIM:610832
Temtamy Preaxial Brachydactyly Syndrome	Radial deviation of finger, Clinodactyly of the 2nd finger, Abnormal optic disc morphology, Optic...	ORPHA:363417
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Tibial torsion, Highly arched eyebrow, Pelvic kidney, 2-3 toe syndactyly, Vesicoureteral reflux, ...	OMIM:618653
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Anteverted ...	OMIM:619859
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Cerebral calcification	ORPHA:99966
Craniotelencephalic Dysplasia	Craniosynostosis, Lissencephaly, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Frontal boss...	ORPHA:1528
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy, Iris atrophy	OMIM:620422
Recombinant Chromosome 8 Syndrome	Clinodactyly of the 5th finger, Low-set ears, Camptodactyly, Low posterior hairline, Hearing impa...	OMIM:179613
Charcot-Marie-Tooth Disease Type 1E	Hammertoe, Split hand, Anisocoria, Hand muscle weakness, Hand muscle atrophy, Hyporeflexia of upp...	ORPHA:90658
Chromosome 15Q14 Deletion Syndrome	Highly arched eyebrow, Recurrent viral upper respiratory tract infections, Low-set ears, Posterio...	OMIM:616898
Papillorenal Syndrome	Microphthalmia, Hypertension, Stage 5 chronic kidney disease, Renal malrotation, Lens luxation, C...	OMIM:120330
Goldberg-Shprintzen Megacolon Syndrome	Hypospadias, Finger syndactyly, Ptosis, Sparse eyebrow, Iris coloboma	ORPHA:66629
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Genu valgum, Rhizomelia, Wide nose, Deformed humeral heads, Short metacarpal, Coxa va...	ORPHA:2831
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Clinodactyly of the 5th finger, Highly arched eyebrow, Single transverse p...	ORPHA:329224
Ring Chromosome 13 Syndrome	Aplasia/hypoplasia involving bones of the hand, Anencephaly, Hypospadias, Aplasia/Hypoplasia of t...	ORPHA:96176
3C Syndrome	Short nose, Hypospadias, Abnormal hip bone morphology, Prominent occiput, Hydrocephalus, Dandy-Wa...	ORPHA:7
Isolated Anencephaly	Congenital diaphragmatic hernia, Omphalocele	ORPHA:563609
Trisomy 4P	Radial club hand, Hypospadias, Microcephaly, Camptodactyly of finger, Preaxial hand polydactyly, ...	ORPHA:1738
Meier-Gorlin Syndrome 7	Heart block, Breast aplasia, Dislocated radial head, Aplasia/Hypoplasia of the patella, 2-3 toe s...	OMIM:617063
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Recurrent otitis media, Thin nail, Absent eyelashes, Absent eyebrow, Cafe-au-lait...	OMIM:618625
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta, Facial palsy	OMIM:107550
Seckel Syndrome 7	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Microtia, Short m...	OMIM:614851
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Hypospadias, Unilateral renal agenesis, A...	OMIM:308205
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Thick nasal a...	ORPHA:163961
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Abnormal ilium morphology, Hydrocephalus, Cloverleaf skull, Redun...	ORPHA:2655
Eiken Syndrome	Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Abnormal acetabulum morpholo...	ORPHA:79106
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypoplasia of the fovea, Hypopigment...	OMIM:619165
Achondrogenesis Type 1B	Short nose, Anteverted nares, Micromelia, Frontal bossing, Umbilical hernia, Short foot, Talipes ...	ORPHA:93298
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Hypoplasia of the corpus callosum, Short nose, Elevated urinary aminoisobutyric acid, Thin corpus...	OMIM:614105
Macrophthalmia, Colobomatous, With Microcornea	Microcornea, Shallow anterior chamber, Flat cornea, Chorioretinal coloboma, Optic disc coloboma, ...	OMIM:602499
Pseudodiastrophic Dysplasia	Phalangeal dislocation, Elbow dislocation, Rhizomelia, Talipes equinovarus	ORPHA:85174
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Foot polydactyly, Frontal bossing, Preaxial hand polydactyly, Penile freckling, Depre...	ORPHA:210548
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Multiple carpal ossification centers, Highly arched e...	OMIM:143095
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Vascular ring, Skeletal muscle atrophy, Abnormally large globe, Knee flexion contracture	OMIM:603387
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Abnormal foot morphology, Microcephaly, Hypoplasia of the pons, B...	OMIM:607596
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Clinodactyly of the 5th finger, Single transverse palmar crease, Sensorineural hearing impairment...	OMIM:620075
Noonan Syndrome 13	Multiple lentigines, Highly arched eyebrow, Low posterior hairline, Mitral valve prolapse, Overla...	OMIM:619087
Craniofacial-Deafness-Hand Syndrome	Short nose, Abnormality of the wrist, Depressed nasal ridge, Camptodactyly of finger, Ulnar devia...	ORPHA:1529
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Microphthalmia, Calf muscle hypertrophy, Facial palsy, Flexion contracture, M...	OMIM:613155
Hidrotic Ectodermal Dysplasia, Halal Type	Nail dysplasia, Protruding ear, Absent eyelashes, Sparse scalp hair, Multiple cafe-au-lait spots,...	ORPHA:1809
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Aplasti...	OMIM:228900
Holoprosencephaly	Microphthalmia, Encephalocele, Anophthalmia, Highly arched eyebrow, Abnormal antihelix morphology...	ORPHA:2162
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Fliedner-Zweier Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis, Epicanthus	OMIM:620511
19Q13.11 Microdeletion Syndrome	Nail dysplasia, Clinodactyly of the 5th finger, Sparse or absent eyelashes, Recurrent respiratory...	ORPHA:217346
Al-Gazali-Bakalinova Syndrome	Hypoplasia of the corpus callosum, Polydactyly, Genu valgum, Epiphyseal dysplasia, Frontal bossin...	OMIM:607131
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c...	OMIM:217300
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:244200
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Death in childhood, Anteverted nares, Short long bone, Coarse metaphyseal trabeculari...	OMIM:618961
Joubert Syndrome 14	Microphthalmia, Encephalocele, Meningocele, Highly arched eyebrow, Hydrocephalus, Hypertension, L...	OMIM:614424
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Agenesis of co...	OMIM:619301
Atelosteogenesis, Type I	Clubbing, Tibial bowing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Renal hypoplasia, Brachydactyly	OMIM:600151
Aortic Aneurysm, Familial Thoracic 6	Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula...	OMIM:611788
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Diastrophic Dysplasia	Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Short long bone, Hip contractur...	OMIM:222600
Spastic Paraplegia 50, Autosomal Recessive	Hypoplasia of the corpus callosum, Adducted thumb, Microcephaly, Wide nasal ridge, Ventriculomega...	OMIM:612936
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bilateral ptosis, Microphthalmia, Broad distal phalanx of finger, Highly arched eyebrow, 2-3 toe ...	ORPHA:404440
Polysyndactyly With Cardiac Malformation	Stillbirth, Small nail, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, ...	OMIM:263630
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Short nose, Hypoplasia of penis, Microcephaly, Campto...	ORPHA:2083
Noonan Syndrome 11	Low-set ears, Bilateral sensorineural hearing impairment, Hypertrophic cardiomyopathy, Pulmonic s...	OMIM:618499
Cockayne Syndrome	Microphthalmia, Urinary incontinence, Hypertension, Retinal atrophy, Abnormal epiphysis morpholog...	ORPHA:191
Tetraploidy	Aplasia/Hypoplasia affecting the eye, Hypoplasia of the ear cartilage, Radial club hand, Aplasia/...	ORPHA:3305
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Tarsal synostosis, Hypopigmentation of hair, S...	ORPHA:53271
Noonan Syndrome 5	Atrial septal defect, Multiple lentigines, Cubitus valgus, Small nail, Low-set ears, Hypertrophic...	OMIM:611553
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Renal insufficiency, Hypertension, Nephrotic syndrome, Thickened glom...	OMIM:203780
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Hirsutism, Anteverted ears, Syndactyly, Sparse hair, Narrow palpebral fissure, Upslanted palpebra...	OMIM:618087
Weaver Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Limited knee extens...	OMIM:277590
Cohen Syndrome	Microphthalmia, Abnormal hip bone morphology, Sandal gap, Sensorineural hearing impairment, Arach...	ORPHA:193
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Coloboma, Type II lissencephaly, Ventriculomegaly	ORPHA:324416
Inhalational Botulism	Mydriasis, Urinary retention, Ptosis	ORPHA:254504
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Uncombable hair, Abnormality of retinal pigmentation, Brachydactyly, Spa...	ORPHA:1264
Spinocerebellar Ataxia, Autosomal Recessive 20	Wide nasal base, Delayed eruption of teeth, Anteverted nares, Camptodactyly, Bulbous nose, Cerebr...	OMIM:616354
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Single t...	OMIM:244300
Developmental And Epileptic Encephalopathy 91	Cerebral atrophy, Single transverse palmar crease, Prominent nasal tip, Reduced cerebral white ma...	OMIM:617711
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Albini...	OMIM:203200
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Hypoplasia of the corpus callosum, Brachycephaly, Microcephaly, Broad thumb, Down-sloping shoulde...	OMIM:617452
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Pseudocoarctation of the aorta, Patent ductus arteriosus	ORPHA:228190
Trichorhinophalangeal Syndrome Type 1	Leukonychia, Protruding ear, Clinodactyly of the 5th finger, Short metatarsal, Short metacarpal, ...	ORPHA:77258
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Mehmo Syndrome	Hypoplasia of penis, Microcephaly, Micropenis, Tapered finger, Talipes equinovarus	ORPHA:85282
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Astigmatism, Aortic regurgitation, Hypo...	ORPHA:268261
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Short nose, Depressed nasal bridge, Short columella	OMIM:155050
Baraitser-Winter Syndrome 1	Short nose, Lissencephaly, Anteverted nares, Microcephaly, Duplication of phalanx of hallux, Trig...	OMIM:243310
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dysplasia, Dry hair, Brittle hair, Low-set ears, Progressive hypotrichosis, Sparse eyelashes...	OMIM:225060
Pelvis-Shoulder Dysplasia	Microphthalmia, Clinodactyly of the 5th finger, Short clavicles, Hypoplastic acetabulae, Hypoplas...	OMIM:169550
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Microtia, Synophrys, Long eyelashes, Hearing impairment, Macrotia, Fine hair, Tapered finger	OMIM:620250
Joubert Syndrome 37	Microphthalmia, Low-set ears, Postaxial polydactyly, Ptosis, Posteriorly rotated ears, Sparse hair	OMIM:619185
Bardet-Biedl Syndrome 17	Polydactyly, Polyuria, Mesoaxial polydactyly, Postaxial hand polydactyly, Renal cyst, Short fourt...	OMIM:615994
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Cerebral calcification, Porencephal...	ORPHA:1393
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Joint contracture of the 5th finger, Brittle hair, Sensorineural hearing impairment, Arachnodacty...	ORPHA:1883
Glycine Encephalopathy With Normal Serum Glycine	Hypoplasia of the corpus callosum, Genu recurvatum, Anteverted nares, Elbow flexion contracture, ...	OMIM:617301
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,...	ORPHA:264200
Carpenter Syndrome 2	Broad thumb, Cutis laxa, Trigonocephaly, Umbilical hernia, Craniosynostosis, Anteverted nares, Ca...	OMIM:614976
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hypoplasia of the corpus callosum, Ankle flexion contracture, Craniosynostosis, Cerebellar vermis...	ORPHA:284417
Boomerang Dysplasia	Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd...	ORPHA:1263
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Purpura, Clinodactyly of the 5th finger, Ulnar bowing, Petechiae, Proximal radio-ulnar synostosis...	OMIM:605432
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities...	OMIM:619636
Joubert Syndrome 7	Genu valgum, Nephronophthisis, Postaxial hand polydactyly, Renal cyst, Postaxial polydactyly, Pto...	OMIM:611560
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair	OMIM:616760
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Cerebral atrophy, Knee flexion contracture, Anteverted nares, Elbow flexion contracture, Calcaneo...	OMIM:616266
Craniorachischisis	Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Short Stature And Facioauriculothoracic Malformations	Microtia, Low-set ears, Ventricular septal defect, Overfolded helix, Cupped ear	OMIM:609654
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Nail dystrophy, Mixed hearing impairment, Microphthalmia, Small nail, Microtia, Sparse hair, Clin...	OMIM:620186
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Death in infancy, Simplified gyral pattern, Agenesis of corpus callosum, Cerebella...	OMIM:619302
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Hydrocephalus, Optic nerve hypoplasia, Postaxial hand polydactyly, L...	OMIM:605627
Oliver-Mcfarlane Syndrome	Long eyebrows, Long eyelashes, Sparse hair, Central heterochromia, Pigmentary retinopathy, Alopecia	OMIM:275400
Aredyld	Abnormality of the ear, Generalized hypotrichosis	OMIM:207780
Rhizomelic Chondrodysplasia Punctata, Type 5	Pes cavus, Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Cox...	OMIM:616716
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Renal hy...	OMIM:212780
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, Short nose, 2-3 toe syndactyly, Increased CSF protein concentration, Long fingers,...	OMIM:218000
Chromosome 8Q21.11 Deletion Syndrome	Short palpebral fissure, Microphthalmia, Short metacarpal, Camptodactyly, Ptosis, Downslanted pal...	OMIM:614230
Morning Glory Disc Anomaly	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma	ORPHA:35737
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Microtia, Hip dislocation, Hirsutism...	OMIM:613458
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Atrial septal defect, Hydrocephalus, Hyperextensibility of the finger joints,...	ORPHA:163979
Helsmoortel-Van Der Aa Syndrome	Bilateral ptosis, Enlarged kidney, Sandal gap, Prominent fingertip pads, Short lower limbs, Ectro...	OMIM:615873
3P25.3 Microdeletion Syndrome	Microphthalmia, Proximal placement of thumb, Blepharophimosis, Sensorineural hearing impairment, ...	ORPHA:435638
Walker-Warburg Syndrome	Protruding ear, Microphthalmia, Anophthalmia, Hydrocephalus, Low-set ears, Posteriorly rotated ea...	ORPHA:899
Lissencephaly 5	Hypoplasia of the corpus callosum, Occipital encephalocele, Hydrocephalus, Cerebellar vermis hypo...	OMIM:615191
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	Rocker bottom foot, Absent phalangeal crease, Ulnar deviation of the hand or of fingers of the ha...	OMIM:601680
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Microphthalmia, Short first metatarsal, Ulnar bowing, Epiphyseal stipplin...	OMIM:619135
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Excessive wrinkled skin, Short greater sciatic notch, Hydrocephal...	ORPHA:1860
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Cone-shaped epiphysis, Hypospadias, Bilateral coxa valga, Sho...	ORPHA:439822
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Tapered distal phalanges of finger, Anteverted ...	ORPHA:371364
Freeman-Sheldon Syndrome	Underdeveloped nasal alae, Depressed nasal ridge, Camptodactyly of finger, Absent palmar crease, ...	ORPHA:2053
C Syndrome	Short nose, Radial deviation of finger, Dislocated radial head, Renal cortical cysts, Anteverted ...	OMIM:211750
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Short nose, Horseshoe kidney, Short hallux, Finger syndactyly, Vesicouretera...	ORPHA:93260
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Transposition of the great arteries, Abnormal helix m...	ORPHA:1913
Skin Creases, Congenital Symmetric Circumferential, 1	Short palpebral fissure, Microphthalmia, Blepharophimosis, Hypoplastic nipples, Low-set ears, Lon...	OMIM:156610
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebral atrophy, Short finger, Hypoplasia of the corpus callosum, Cone-shaped epiphysis, Hypospa...	OMIM:618659
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Anteverted nares, Hypospadias, Depressed nasal ridge	ORPHA:1355
Wolf-Hirschhorn Syndrome	Iris coloboma, Hypospadias, Short hallux, Highly arched eyebrow, Single transverse palmar crease,...	OMIM:194190
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Polymicrogyria, Finger syndactyly, Foot polydactyly, Frontal bossing, Hand polydac...	ORPHA:60040
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand, Micropenis	OMIM:245800
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Hydrocephalus, Abnormal cardiac ventricle morphology, Microt...	ORPHA:2306
Opitz-Kaveggia Syndrome	Radial deviation of finger, Hydrocephalus, Single transverse palmar crease, Sensorineural hearing...	OMIM:305450
Cardiofaciocutaneous Syndrome 4	Multiple lentigines, Alopecia of scalp, Ventricular septal hypertrophy, Abnormal aortic valve mor...	OMIM:615280
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Microtia, Clinodactyly, Patent foramen ovale, Pulmonary arter...	OMIM:190685
Skraban-Deardorff Syndrome	Right aortic arch	OMIM:617616
Microphthalmia/Coloboma 12	Microphthalmia, Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, ...	OMIM:120200
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Single transverse palmar crease, 2-3 toe syndactyly, Low-set ears, Pulmonary arte...	OMIM:616449
Parenti-Mignot Neurodevelopmental Syndrome	Microtia, Low-set ears, Synophrys, Posteriorly rotated ears, Cupped ear	OMIM:619873
Autosomal Recessive Spastic Paraplegia Type 66	Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Colpocephaly, Talipes equinovarus	ORPHA:401815
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Kbg Syndrome	Finger clinodactyly, Telecanthus, Single transverse palmar crease, Bilateral conductive hearing i...	ORPHA:2332
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, Short metacar...	OMIM:132400
Albinism, Oculocutaneous, Type V	Albinism, Hypoplasia of the fovea	OMIM:615312
Retinitis Pigmentosa With Or Without Skeletal Anomalies	High anterior hairline, Small nail, Low-set ears, Short metacarpal, Sparse eyelashes, Cafe-au-lai...	OMIM:250410
Isotretinoin Syndrome	Microtia, Abnormality of the outer ear, Spina bifida occulta, Hypoplastic toenails	ORPHA:2305
Lymphedema-Hypoparathyroidism Syndrome	Telecanthus, Renal insufficiency, Increased carrying angle, Ptosis, Brachydactyly, Cataract, Neph...	OMIM:247410
Orofaciodigital Syndrome Ii	Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus...	OMIM:252100
Joubert Syndrome 17	Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula...	OMIM:133780
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Anteverted nar...	ORPHA:93329
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Cubitus valgus, Metaphyseal striations, Sensorineural hearing impairment, Slender lo...	OMIM:608154
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Ankle flexion contracture, Elbow flexion contracture, Scapular winging, Internally ro...	OMIM:617468
Meier-Gorlin Syndrome 1	Microtia, Death in infancy, Hyperconvex nail, Genu varum, Coxa valga, Breast hypoplasia, Camptoda...	OMIM:224690
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Chromosome 6Q24-Q25 Deletion Syndrome	Atrial septal defect, Persistent fetal circulation, Medial flaring of the eyebrow, Sandal gap, Hy...	OMIM:612863
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, Abnormal epiphysis morphology, Abnorma...	ORPHA:3098
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Short long bone, Bowing of the long bones, Micromelia, Microcephaly, Neo...	OMIM:224410
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Periventricular white matter hyperintensities, Hydrocephalus, Elbow flexion contracture, Microcep...	OMIM:619470
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Moyamoya phenomenon, Premature coronary artery atherosclerosis, Right aortic arch, Stroke-like ep...	OMIM:300845
Smith-Kingsmore Syndrome	Hypoplasia of the corpus callosum, Deep plantar creases, Short proximal phalanx of finger, Megale...	OMIM:616638
Schilbach-Rott Syndrome	2-3 toe cutaneous syndactyly, Microtia, Posteriorly rotated ears, 3-4 finger cutaneous syndactyly...	OMIM:164220
Blepharophimosis-Impaired Intellectual Development Syndrome	Plagiocephaly, Thin corpus callosum, Clinodactyly of the 5th finger, Hypospadias, Wide nose, Narr...	OMIM:619293
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec...	ORPHA:439
Phaver Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the earlobes, Low-set ears, Pulmonary artery atresia, ...	ORPHA:2876
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Cholesteatoma, Single transverse palmar crease, Microtia, Short long bone, Low-set ea...	OMIM:611209
Noonan Syndrome 8	Hyperpigmentation of the skin, Low-set ears, Ventricular septal defect, Hypertrophic cardiomyopat...	OMIM:615355
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula	OMIM:619699
Stevenson-Carey Syndrome	Microphthalmia, Low-set ears, Camptodactyly, Downslanted palpebral fissures, Posteriorly rotated ...	OMIM:611961
Uruguay Faciocardiomusculoskeletal Syndrome	Pes cavus, Limited elbow movement, Wide nose, Dislocation of toes, Brachyturricephaly, Camptodact...	OMIM:300280
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Femoral bowing, Short long bone, Acetabular spurs, Postaxial polydactyly, S...	OMIM:615503
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the 5th finger, Highly arched eyebrow, Low-set ears, Narrow palm, Decreased ...	ORPHA:352490
Rahman Syndrome	Thin corpus callosum, Redundant skin, Camptodactyly, Ventriculomegaly, Talipes equinovarus	OMIM:617537
Intellectual Developmental Disorder, Autosomal Dominant 51	Long foot, Wide nasal base, Low hanging columella, Ventriculomegaly, Long toe, Wide nasal bridge,...	OMIM:617788
Brittle Cornea Syndrome 1	Keratoglobus, Keratoconus, Decreased corneal thickness, Congenital hip dislocation, Epicanthus, A...	OMIM:229200
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Talipes equinovarus, Knee flexion...	ORPHA:496689
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Sandal gap, Prominent fingertip pads, Microcephaly, Latera...	ORPHA:96148
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Microphthalmia, Death in childhood, Second metatarsal posteriorly placed, Sen...	OMIM:214150
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Atrial septal defect, Cupped ear	ORPHA:93946
Hypotrichosis-Intellectual Disability, Lopes Type	1-5 finger complete cutaneous syndactyly, Sparse hair	ORPHA:2266
Apert Syndrome	Limited elbow movement, Megalencephaly, Brachyturricephaly, Broad thumb, Syndactyly, Ventriculome...	OMIM:101200
Focal Facial Dermal Dysplasia Type Ii	Trichiasis, Small earlobe, Abnormal pinna morphology, Absent earlobe, Low-set ears, Generalized h...	ORPHA:398173
Acrocardiofacial Syndrome	Atrial septal defect, Abnormal metacarpal morphology, Finger syndactyly, Truncus arteriosus, Spli...	ORPHA:2008
Schizophrenia 1	Short proximal phalanx of the 4th toe, Ectopic kidney, Syndactyly	OMIM:181510
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hypoplasia of the corpus callosum, Plagiocephaly, Short nose, Cavum septum pellucidum, Cerebellar...	OMIM:619383
Aarskog-Scott Syndrome	Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse pa...	ORPHA:915
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Microphthalmia, Clinodactyly of the 5th finger, Generalized hypopi...	OMIM:617306
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Short long bone, Nephrocalcinosis, Brachydactyly	OMIM:615633
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Brachycephaly, Short nose, Abnormal femoral neck/head morphology, Hemiatrophy of upper limb, Ante...	ORPHA:163649
Faundes-Banka Syndrome	Long ear, Flexion contracture of toe, Broad eyebrow, Microtia, Low-set ears, Sparse scalp hair, H...	OMIM:619376
Hadziselimovic Syndrome	Ventricular hypertrophy, Low-set ears, Pulmonary artery atresia, Low anterior hairline, Posterior...	OMIM:612946
Menkes Disease	Death in childhood, Brittle hair, Metaphyseal spurs, Hypopigmentation of the skin, Metaphyseal wi...	OMIM:309400
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Telecanthus, Low-set ears, Hypogonadism, Fine hair, Upslanted palpebral fissure, ...	ORPHA:228390
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Camptodactyly, Pulmonic stenosis, Overlapping toe, Atrial septal defec...	OMIM:614262
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Intellectual Developmental Disorder, X-Linked 30	Short nose, Hydrocephalus, Anteverted nares, Prominent fingertip pads, Microcephaly, Prominent na...	OMIM:300558
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Hydrocephalus, Hearing impairment, Holoprosencephaly, Ventricular s...	ORPHA:77298
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Pes cavus, Distal lower limb...	ORPHA:99947
Foodborne Botulism	Mydriasis, Urinary retention, Ptosis, Arrhythmia	ORPHA:228371
Acrofrontofacionasal Dysostosis 1	S-shaped palpebral fissures, Mixed hearing impairment, Acetabular dysplasia, Microphthalmia, Smal...	OMIM:201180
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Long toe, Upper limb undergrowth, Recurrent urinary tract infections, ...	OMIM:614527
Myoectodermal Gonadal Dysgenesis Syndrome	Limited elbow extension, Hypoplasia of the lacrimal punctum, Unilateral renal agenesis, Highly ar...	OMIM:618419
Robinow Syndrome, Autosomal Recessive 1	Nail dysplasia, Radial deviation of finger, Mesomelic arm shortening, Small nail, Dislocated radi...	OMIM:268310
Meckel Syndrome 14	Pneumothorax, Occipital encephalocele, Microphthalmia, Postaxial hand polydactyly, Bowing of the ...	OMIM:619879
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Small nail, Stenosis of the external auditory canal, Camptodactyly, Atresia of the external audit...	OMIM:608257
Autosomal Dominant Omodysplasia	Short nose, Rhizomelia, Hypoplasia of penis, Short palm, Frontal bossing, Short humerus, Short 1s...	ORPHA:93328
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Broad eyebrow, Coronary artery fistula, Pat...	OMIM:619343
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Microcephaly...	ORPHA:457395
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Sparse bo...	ORPHA:177
Recon Progeroid Syndrome	Proximal placement of thumb, Hyperconvex thumb nails, Attached earlobe, Microtia, Hirsutism, Arac...	OMIM:620370
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Hypertension, Overlapping toe, Hip dislocation, 2-3 toe cutaneous sy...	OMIM:270400
Naxos Disease	Nail dystrophy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Abnormal h...	OMIM:601214
Microcephaly-Capillary Malformation Syndrome	Small nail, Patent foramen ovale, Low-set ears, Hearing impairment, Brachydactyly, Right ventricu...	OMIM:614261
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad distal phalanx of finger, Hypertension, Low-set ears, Patchy alopecia, Broad thumb, Hearing...	OMIM:617763
19P13.12 Microdeletion Syndrome	Deep palmar crease, Clinodactyly of the 5th finger, Sandal gap, Aortic regurgitation, Finger synd...	ORPHA:254346
Branchiootic Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf...	OMIM:602588
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, 2-3 toe syndactyly, Hearing impairment, Sparse hair, Umbilical hernia, Re...	ORPHA:284180
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Shoulder dislocation, Arachnodactyly, Frontal bossing, Umbilical hernia, Adducted ...	ORPHA:2181
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia	ORPHA:2143
Amyloidosis, Finnish Type	Orthostatic hypotension, Decreased heart rate variability, Cardiomyopathy, Optic neuropathy, Latt...	OMIM:105120
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Short nose, Clinodactyly of the 5th finger, Optic nerve hypoplasia, Vesicoureteral...	OMIM:618828
Ermine Phenotype	Astigmatism, Clinodactyly of the 5th finger, Iris hypopigmentation, Toe syndactyly, Ocular albinism	ORPHA:999
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Microtia, Low-set ears, Cafe-au-lait spot, Metaphyseal dysplasia, Posteriorly rotated ears, Clino...	OMIM:618336
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Microphthalmia	ORPHA:1915
Crane-Heise Syndrome	Hypoplasia of penis, Finger syndactyly, Anteverted nares, Toe syndactyly, Depressed nasal bridge,...	ORPHA:1512
Meckel Syndrome, Type 3	Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Multicystic kidney dysplasia	OMIM:607361
Lambert Syndrome	Hypospadias, Talipes equinovarus	OMIM:245550
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Adult Syndrome	Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Finger syndactyly, Nasolacrimal du...	ORPHA:978
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares	ORPHA:2015
Oculodentodigital Dysplasia	Atrial septal defect, Microphthalmia, Cubitus valgus, Joint contracture of the 5th finger, Slow-g...	OMIM:164200
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Microphthalmia, Sparse hair, Hypogonadism, Absent eyel...	OMIM:268400
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Pes cavus, Thin corpus callosum, Clinodactyly of the 5th finger, Cerebellar vermis hypoplasia, Si...	OMIM:617807
Bardet-Biedl Syndrome 2	Postaxial hand polydactyly, Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, ...	OMIM:615981
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation, Slender finger, Death in infancy, Talipes equinovarus	OMIM:147800
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Wide nose, Humeroradial synostosis,...	OMIM:610017
Heterotaxy, Visceral, 8, Autosomal	Congenitally corrected transposition of the great arteries with ventricular septal defect, Right ...	OMIM:617205
Neurodevelopmental Disorder With Spasticity And Poor Growth	Single transverse palmar crease, Microtia, Bilateral coxa valga, Hirsutism, Low-set ears, Patent ...	OMIM:618076
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Hypoplasia of the corpus callosum, Plagiocephaly, Microcephaly, Cerebral cortical atrophy, Abnorm...	OMIM:617481
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Abnormal antihelix morphology, Low-set ears, Low ...	ORPHA:85194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Death in childhood, Encephalocele, Hydrocephalus, Optic nerve hypoplasia, Microti...	OMIM:614643
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Short distal phal...	ORPHA:181
Aortic Aneurysm, Familial Thoracic 4	Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art...	OMIM:132900
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Foot oligodactyly, Syndactyly, ...	OMIM:616589
Ruvalcaba Syndrome	Limited elbow extension, Short metatarsal, Short metacarpal, Micromelia, Short palm, Short phalan...	OMIM:180870
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, Unilateral renal agenesis, Epiphyseal stippling,...	OMIM:308050
Diamond-Blackfan Anemia 21	Protruding ear, Genu valgum, Cubitus valgus, Aortic regurgitation, Sandal gap, Clinodactyly of th...	OMIM:620072
Infantile Sialic Acid Storage Disease	Cerebral atrophy, Death in childhood, Abnormal foot morphology, Hydrocephalus, Anteverted nares, ...	OMIM:269920
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Aplasia/Hypoplasia of the external ear, Split hand	ORPHA:168486
Short Stature With Microcephaly And Distinctive Facies	Hypoplasia of the corpus callosum, Proximal placement of thumb, Anteverted nares, Death in infanc...	OMIM:615789
Microtriplication 11Q24.1	Genu valgum, Clinodactyly of the 5th finger, Wide nose, Microcephaly, Metatarsus adductus, Short ...	ORPHA:289522
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Anteverted nares, Nep...	ORPHA:220497
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Plagiocephaly, Hydrocephalus, Type II lissencephaly, Camptodactyly of finger, Doli...	ORPHA:272
Hamamy Syndrome	Abnormal number of hair whorls, Atrial septal defect, Clinodactyly of the 5th finger, Short 2nd f...	OMIM:611174
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Redundant neck skin, Optic nerve hypoplasia, Microcephaly, Craniosynostosis, ...	OMIM:301056
Isolated Arrhinia	Microtia, Microphthalmia, Eyelid coloboma	ORPHA:1134
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Single transverse palmar crease, Anteverted nares, Camptodactyly, Frontal bossing, Br...	OMIM:613604
Truncus Arteriosus	Anomalous origin of the left common carotid artery from the brachiocephalic artery, Abnormal supe...	ORPHA:3384
Trichohepatoenteric Syndrome 1	Trichorrhexis nodosa, Large placenta, Aortic regurgitation, Brittle hair, Generalized hypopigment...	OMIM:222470
Miller Fisher Syndrome	Mydriasis, Ptosis, Anisocoria	ORPHA:98919
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker m...	OMIM:615287
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Microtia, Recurrent aspiration pneumonia, Prominent tragus, Patent fo...	ORPHA:280633
Lessel-Kreienkamp Syndrome	Hypoplastic helices, Clinodactyly of the 5th finger, Patent foramen ovale, Hearing impairment, Pu...	OMIM:619149
Chromosome 9P Deletion Syndrome	Narrow nail, Clinodactyly of the 5th toe, Perimembranous ventricular septal defect, Atrial septal...	OMIM:158170
Trichodysplasia-Xeroderma Syndrome	Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb...	ORPHA:3361
Schopf-Schulz-Passarge Syndrome	Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Poroma, Apocrine hidrocystoma, S...	OMIM:224750
Band Heterotopia	Plagiocephaly, Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation, Agenesis of corpus ca...	OMIM:600348
Charcot-Marie-Tooth Disease, Type 4B1	Talipes equinovarus	OMIM:601382
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Clinodactyly of the 5th finger, Sandal gap, Single transverse palmar crease...	OMIM:617061
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Clubbing of fingers, Hydrocephalus, Hypoplastic pubic bone, Miscarriage, Short lon...	ORPHA:1865
Chromosome 3Pter-P25 Deletion Syndrome	Brachycephaly, Low hanging columella, Anteverted nares, Microcephaly, Trigonocephaly, Postaxial p...	OMIM:613792
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia	OMIM:276821
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	High anterior hairline, Hypoplastic fingernail, Toenail dysplasia, Clinodactyly of the 5th finger...	ORPHA:1292
Baller-Gerold Syndrome	Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Optic nerve hypoplasia, Ol...	OMIM:218600
Basel-Vanagaite-Smirin-Yosef Syndrome	Overlapping fingers, Atrial septal defect, Microphthalmia, Finger syndactyly, Single transverse p...	ORPHA:464738
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Distal symphalangism...	OMIM:606895
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Sparse eyelashes, Conductive hearing impairment, Microtia, Atresia of the external auditory canal	OMIM:300946
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Giant melanosomes in melanocytes, Albinism, Adult onset sensorineural hearing impairment	OMIM:300650
Mosaic Variegated Aneuploidy Syndrome 2	Abnormal lung lobation, Rhizomelia, Clinodactyly of the 5th finger, Aortic regurgitation, Single ...	OMIM:614114
Joubert Syndrome	Encephalocele, Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Anteverted nares, Bip...	ORPHA:475
7Q11.23 Microduplication Syndrome	Astigmatism, Cubitus valgus, Hypospadias, Unilateral renal agenesis, Single transverse palmar cre...	ORPHA:96121
Skin Creases, Congenital Symmetric Circumferential, 2	Short palpebral fissure, Microphthalmia, Clinodactyly of the 5th finger, Blepharophimosis, Microt...	OMIM:616734
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Thick eyebrow, Unilateral renal agenesis	OMIM:608980
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Microphthalmia, Hydrocephalus, Microtia, Aplasia/Hypoplasia involving the...	ORPHA:3301
Progeroid Syndrome, Petty Type	Low-set, posteriorly rotated ears, Brittle hair, Abnormality of the nail, Abnormal hair morpholog...	ORPHA:2963
Acromesomelic Dysplasia 1	Limited elbow extension, Hypoplasia of the radius, Broad finger, Short nose, Short metatarsal, Co...	OMIM:602875
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
8Q12 Microduplication Syndrome	Highly arched eyebrow, Sensorineural hearing impairment, Atrial septal defect, Ventricular septal...	ORPHA:228399
Charcot-Marie-Tooth Disease, Type 4B2	Pes cavus, Hammertoe, Split hand, Ulnar claw, Talipes equinovarus	OMIM:604563
Joubert Syndrome 23	Dysplastic corpus callosum, Polydactyly, Coloboma	OMIM:616490
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Proximal tibial and fibular fusion, Hypertension, Femoral bowing, Short metac...	ORPHA:95699
Bone Dysplasia, Lethal Holmgren Type	Abnormality of the hand, Abnormal thumb morphology, Abnormal femur morphology, Rhizomelia, Abnorm...	ORPHA:1842
Ohdo Syndrome	Clinodactyly of the 5th finger, Stenosis of the external auditory canal, Microtia, Hearing impair...	OMIM:249620
Roussy-Lévy Syndrome	Pes cavus, Genu valgum, Urinary bladder sphincter dysfunction, Intrinsic hand muscle atrophy, Tal...	ORPHA:3115
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Pes cavus, Short nose, Primary microcephaly	OMIM:245570
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring	OMIM:602082
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Tetralogy of Fallot, Patent d...	ORPHA:2847
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Bilateral single transverse palmar creases, Brachycephaly, Hydrocephalus, Dandy-Walker malformati...	ORPHA:459061
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Atrial septal defect, Type E brachydactyly, Short metatarsal	OMIM:113301
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Madelung deformity, Ulnar bowing, Corneal opacity, Micromelia, Proteinuria, Aplasia/Hy...	ORPHA:1765
Heterotaxy, Visceral, 7, Autosomal	Transposition of the great arteries, Interrupted aortic arch, Right aortic arch, Pulmonary artery...	OMIM:616749
Loeys-Dietz Syndrome 6	Congenital diaphragmatic hernia, Arterial tortuosity, Vertebral artery aneurysm, Inguinal hernia,...	OMIM:619656
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Breast hypoplasia, Microtia, Low-set ears, Camptodactyly, Long eyelashes, Hea...	OMIM:601353
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Talipes equinovarus, Joint contracture of the hand	OMIM:611067
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Tibial bowing, Microcephaly, Prominent calcaneus, Broad thumb, Fron...	ORPHA:251028
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Palmoplantar hyperkeratosis, Orthostatic hypotension, Anisocoria	OMIM:231550
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Oligodactyly, Ectrodactyly	ORPHA:3016
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Low-set ears, Antecubital pterygium, Syndactyly, Melanocytic nevu...	OMIM:616489
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Short nose, Turricephaly, Polymicrogyria, Anteverted nares, Platyst...	OMIM:618774
Hennekam-Beemer Syndrome	Irregular hyperpigmentation, Clinodactyly of the 5th finger, Microtia, Hypotension, Hearing impai...	ORPHA:2135
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
Li-Ghorbani-Weisz-Hubshman Syndrome	Clinodactyly of the 5th finger, Low-set ears, Overlapping toe, Atrial septal defect, Ventricular ...	OMIM:618974
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Pseudocoarctation of the aorta, Patent ductus arteriosus	OMIM:604381
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Low-set, posteriorly rotated ears, Me...	ORPHA:3191
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Microtia, Patent foramen ovale, Low-set ears, Portal hypertension, Pulmonary arte...	OMIM:620005
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Alport Syndrome	Recurrent corneal erosions, Renal glomerular foam cells, Glomerular C3 deposition, Tubulointersti...	ORPHA:63
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Inguinal hernia	ORPHA:1135
Edinburgh Malformation Syndrome	Hydrocephalus, Death in infancy	OMIM:129850
Congenital Disorder Of Deglycosylation 2	Sandal gap, Highly arched eyebrow, Microtia, Bilateral talipes equinovarus, Broad thumb, Hearing ...	OMIM:619775
Microtia	Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog...	ORPHA:83463
Chromosome 17P13.1 Deletion Syndrome	Turricephaly, Proximal placement of thumb, Microcephaly, Arachnodactyly, Umbilical hernia, Hydroc...	OMIM:613776
Myopathic Ehlers-Danlos Syndrome	Ankle flexion contracture, Foot joint contracture, Congenital bilateral hip dislocation, Shoulder...	ORPHA:536516
Adams-Oliver Syndrome 1	Microphthalmia, Encephalocele, Small nail, Hypertension, Pulmonary arterial hypertension, Pulmoni...	OMIM:100300
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Microtia, Femoral bowing, Low-s...	OMIM:616723
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Equinovarus deformity, Short nose, Triphalangeal thumb, Dandy-Walker malforma...	ORPHA:3078
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Polymicrogyria, Cerebellar vermis hypoplasia, Anteverted nares, Bip...	ORPHA:220493
Schneckenbecken Dysplasia	Stillbirth, Short nose, Snail-like ilia, Short long bone, Flat acetabular roof, Dumbbell-shaped l...	OMIM:269250
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Charcot-Marie-Tooth Disease Type 4A	Pes cavus, Abnormal foot morphology, Hammertoe, Limited interphalangeal movement, Limited wrist m...	ORPHA:99948
Joubert Syndrome 2	Abnormal foot morphology, Nephronophthisis, Encephalocele, Renal insufficiency, Hydrocephalus, Ab...	OMIM:608091
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Brachycephaly, Short nose, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 t...	OMIM:614701
3-Hydroxyisobutyric Aciduria	Microtia	ORPHA:939
Slc35A2-Cdg	Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormality of the hand, Hip subluxation, Tr...	ORPHA:356961
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Ectropion, Corneal dystrophy, Sparse eyelashes, Blepharitis, Sparse eyebrow, Keratitis, Conjuncti...	OMIM:308800
Fried Syndrome	Hydrocephalus, Cerebral calcification, Thickened calvaria	ORPHA:85335
Fatty Acyl-Coa Reductase 1 Deficiency	Dandy-Walker malformation, Short nose, Depressed nasal bridge, Progressive microcephaly	ORPHA:438178
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Proximal placement of thumb, Unilateral renal agenesis, Hypospadias, Highly arched...	ORPHA:487796
Branchio-Oculo-Facial Syndrome	Nasolacrimal duct obstruction, Microcornea, Upslanted palpebral fissure, Renal agenesis, Ptosis, ...	ORPHA:1297
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Schuurs-Hoeijmakers Syndrome	Highly arched eyebrow, Patent foramen ovale, Low-set ears, Long eyelashes, Synophrys, Macrotia, L...	OMIM:615009
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Brachycephaly, Short nose, Adducted thumb, Hypospadias, Flared metaphysis, Anteverted nares, Micr...	OMIM:616897
Angioma Serpiginosum, X-Linked	Nail dystrophy, Fine hair, Sparse hair	OMIM:300652
Intellectual Developmental Disorder, Autosomal Dominant 1	Clinodactyly of the 5th finger, Sandal gap, Highly arched eyebrow, Microtia, Low-set ears, Low po...	OMIM:156200
Lacrimoauriculodentodigital Syndrome 3	Absent eyelashes, Microtia, Hearing impairment, Partial duplication of thumb phalanx, Short thumb...	OMIM:620193
Diencephalic Syndrome	Hydrocephalus, Large hands, Long penis	ORPHA:1672
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Ischemic stroke, Inguinal hernia, Aortic root aneurysm, Aortic t...	OMIM:208050
Hypotrichosis 7	Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly...	OMIM:604379
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Hydrocephalus, Halberd-shaped pel...	ORPHA:2635
Dermochondrocorneal Dystrophy	Abnormality of the hand, Corneal dystrophy, Subepithelial corneal opacities, Irregular tarsal oss...	OMIM:221800
Aicardi-Goutieres Syndrome 4	Cerebral atrophy, Convex nasal ridge, Death in childhood, Hydrocephalus, Progressive microcephaly...	OMIM:610333
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Hydrocephalus, Anteverted nares, Brachydactyly, Prominent nose, Bulbous nose, Wide na...	ORPHA:2180
Orofaciodigital Syndrome Xiv	Hypoplasia of the corpus callosum, Occipital encephalocele, Preaxial polydactyly, Epispadias, Cer...	OMIM:615948
Rhiny	Short nose, Anteverted nares	OMIM:180360
Tetrasomy 5P	Short nose, Redundant neck skin, Clinodactyly of the 5th finger, Short hallux, Hydrocephalus, Ant...	ORPHA:3309
Crouzon Syndrome	Brachycephaly, Convex nasal ridge, Turricephaly, Hydrocephalus, Choanal atresia, Multiple suture ...	ORPHA:207
Fibrochondrogenesis 2	Short nose, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Short long bone, Hypop...	OMIM:614524
Noonan Syndrome 6	Multiple lentigines, Sensorineural hearing impairment, Long eyebrows, Low-set ears, Low posterior...	OMIM:613224
Treacher Collins Syndrome 2	Microtia, Fusion of middle ear ossicles, Conductive hearing impairment, Downslanted palpebral fis...	OMIM:613717
Smith-Magenis Syndrome	Brachycephaly, Short nose, Pes planus, Clinodactyly of the 5th finger, Corticospinal tract hypopl...	ORPHA:819
Van Maldergem Syndrome 2	Short 4th metacarpal, High anterior hairline, Hip subluxation, Short clavicles, Sensorineural hea...	OMIM:615546
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Coffin-Siris Syndrome 7	Recurrent otitis media, Clinodactyly of the 5th finger, Hypoplastic fifth toenail, Patent foramen...	OMIM:618027
Elejalde Neuroectodermal Melanolysosomal Syndrome	Death in childhood, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentatio...	OMIM:256710
Rapp-Hodgkin Syndrome	Nail dystrophy, Decreased number of sweat glands, Small nail, Syndactyly, Sparse hair, Fine hair,...	OMIM:129400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Palpebral edema, Unilateral renal agenesis, Clinodactyly of the 2nd finger, Broad middle phalanx ...	ORPHA:221139
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Dysgyria, Type II lissencephaly, Abnormal cerebral white ...	ORPHA:352682
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle, Partial ab...	OMIM:220200
Oculodentodigital Dysplasia	Abnormal pinna morphology, Sparse hair, Umbilical hernia, Abnormality of the ear, Fine hair, Clin...	ORPHA:2710
Joint Laxity, Short Stature, And Myopia	Iris coloboma, Chorioretinal coloboma, Talipes equinovarus, Umbilical hernia	OMIM:617662
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Thumb contracture, Agenesis o...	OMIM:307000
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Downslanted palpebral fissures, Microphthalmia, Brachydactyly	OMIM:614526
Moynahan Syndrome	Sensorineural hearing impairment, Sparse hair, Alopecia	ORPHA:2574
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Focal Facial Dermal Dysplasia Type Iii	Hypopigmented skin patches, Highly arched eyebrow, Multiple cafe-au-lait spots, Distichiasis, Spa...	ORPHA:1807
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Rhizomelia, Epiphyseal stippling, Abnormal pinna morphology, Stippled calcificati...	OMIM:302960
Intermediate Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Scarring alopecia of scalp, Abnormality of skin pigmentation, Sparse body hair, A...	ORPHA:79402
Ring Chromosome 21 Syndrome	Multiple cafe-au-lait spots, Narrow palm, Abnormal heart morphology, Holoprosencephaly, Syndactyl...	ORPHA:1445
Monilethrix	Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo...	ORPHA:573
Fryns Syndrome	Congenital diaphragmatic hernia, Microphthalmia, Abnormal aortic arch morphology, Abnormal aortic...	ORPHA:2059
49,Xxxyy Syndrome	Bilateral talipes equinovarus, Abnormal cerebral white matter morphology, Abnormal plantar dermat...	ORPHA:261534
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Short nose, Megalencephaly, Turricephaly, Hydrocephalus, Microcephaly, Frontal bos...	OMIM:613603
Adnp Syndrome	Polydactyly, High anterior hairline, Sandal gap, Abnormality of the nail, Single transverse palma...	ORPHA:404448
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po...	OMIM:217085
17Q23.1Q23.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Chronic otitis media, Protruding ear, Atrial septal d...	ORPHA:261279
Noonan Syndrome 14	Limited elbow extension, Deep palmar crease, Cubitus valgus, Aortic regurgitation, Scapular wingi...	OMIM:619745
Garg-Mishra Progeroid Syndrome	Microphthalmia, Small nail, Slender long bone, Cafe-au-lait spot, Slender metacarpals, Sparse hai...	OMIM:620601
Cartilage-Hair Hypoplasia	Abnormal hip bone morphology, Tibial bowing, Cardiomyopathy, Mesomelia, Sparse hair, Abnormal epi...	ORPHA:175
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Thin corpus callosum, Microcephaly, Shortening of all distal phalanges of the fingers...	OMIM:615716
Grange Syndrome	Aortic regurgitation, Hypertension, Short palm, Syndactyly, Ventricular septal defect	ORPHA:79094
Distal Deletion 9P	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphol...	ORPHA:1642
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular leukomalacia, Pes cavus, Thin corpus callosum, Plagiocephaly, Hammertoe, Short no...	OMIM:619833
Meier-Gorlin Syndrome 3	Breast hypoplasia, Patellar hypoplasia, Talipes equinovarus, Slender long bone, Aplasia/Hypoplasi...	OMIM:613803
X-Linked Intellectual Disability, Van Esch Type	Microtia, Clinodactyly of the 5th finger	ORPHA:163976
Absent Eyebrows And Eyelashes With Mental Retardation	Microcephaly, Short nose, Convex nasal ridge, Encephalocele	OMIM:200130
Seckel Syndrome 2	Microphthalmia, Clinodactyly of the 5th finger, Few cafe-au-lait spots, Heart murmur	OMIM:606744
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex...	OMIM:614377
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Omphalocele, Vascular ring, Patent ductus arteriosus	OMIM:601927
Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome	Abnormal finger morphology, Bilateral talipes equinovarus	ORPHA:2560
Meier-Gorlin Syndrome 4	Breast hypoplasia, Emphysema, Slender long bone, Microtia, Low-set ears, Patellar aplasia	OMIM:613804
Adams-Oliver Syndrome 5	Patent foramen ovale, Dystrophic toenail, Pulmonary arterial hypertension, Right atrial enlargeme...	OMIM:616028
Contractural Arachnodactyly, Congenital	Wrist flexion contracture, Congenital finger flexion contractures, Limited knee extension, Arachn...	OMIM:121050
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Brachycephaly, Slender nose, Ulnar deviation of the hand or of fingers of the hand, Calcaneovalgu...	ORPHA:562528
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Macular degeneration, Choroidal neovascularization, Syndactyly	ORPHA:404451
Coffin-Siris Syndrome 3	Macroglossia, Central diaphragmatic hernia, Inguinal hernia, Umbilical hernia	OMIM:614608
Cockayne Syndrome Type 2	Hearing impairment, Macrotia, Hypermelanotic macule, Anophthalmia	ORPHA:90322
Microtia, Hearing Impairment, And Cleft Palate	Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Increased incisura l...	OMIM:612290
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Sensorineural hearing impairment, Microtia, Broad thumb, Umbilical h...	OMIM:107480
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Abnormal earlobe morphology, Mitral valve prolapse, Abnormality of the ear, Abnor...	ORPHA:2556
Herpes Simplex Virus Stromal Keratitis	Deep anterior chamber, Corneal stromal edema, Descemet Membrane Folds, Conjunctival hyperemia, He...	ORPHA:137599
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Ruvalcaba Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Hematuria, Abnormal vert...	ORPHA:3121
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Microtia, Short m...	ORPHA:319675
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Hirsutism, Low-set ears, Long eyelashes, Thick eyebrow, Low anterior hairline, Sparse hair, Poste...	OMIM:616819
Pseudotrisomy 13 Syndrome	Microphthalmia, Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, 2-3 toe syndactyly...	OMIM:264480
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Clinodactyly of the 5th finger, Vesicoureteral reflux, Nephrolithiasis, Hip dysplasi...	OMIM:617219
Congenital Myopathy 20	Short finger, Scapular winging, Ulnar deviation of the hand, Depressed nasal bridge, Toe joint co...	OMIM:620310
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Hearing impairment, Abnormality of retinal pigmentation, Cardiomegaly	ORPHA:858
Turnpenny-Fry Syndrome	Atrial septal defect, Tricuspid valve prolapse, Aortic regurgitation, Recurrent respiratory infec...	OMIM:618371
Incontinentia Pigmenti	Irregular hyperpigmentation, Microphthalmia, Broad nail, Cerebral ischemia, Umbilical hernia, Hea...	ORPHA:464
Kbg Syndrome	Long palpebral fissure, Radial deviation of finger, Clinodactyly of the 5th finger, Telecanthus, ...	OMIM:148050
Nievergelt Syndrome	Pes cavus, Genu valgum, Tarsal synostosis, Metatarsus adductus, Mesomelia, Radioulnar synostosis,...	OMIM:163400
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Hypoplastic fingernail, Hypoplastic thumbnail, Short distal phalanx of toe,...	OMIM:619356
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent otitis media, Abnormal earlobe morphology, Highly arched eyebrow, Sensorineural hearing...	ORPHA:500159
Temple Syndrome	Wide nose, Hydrocephalus, Anteverted nares, Frontal bossing, Clinodactyly, Short foot, Depressed ...	OMIM:616222
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Microphthalmia, Small nail, Brittle hair, Tiger tail bandin...	OMIM:601675
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis, Brachycephaly, Choanal atresia	OMIM:612247
Frontorhiny	Microphthalmia, Low-set, posteriorly rotated ears, Camptodactyly of finger, Ptosis, Brachydactyly...	ORPHA:391474
Achondrogenesis Type 1A	Short nose, Anteverted nares, Micromelia, Short palm, Frontal bossing, Umbilical hernia, Short foot	ORPHA:93299
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Infant Botulism	Mydriasis, Hypertension, Cardiac arrest, Hypotension, Ptosis, Keratoconjunctivitis sicca	ORPHA:178478
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Short metatarsal, Hypospadias, Anteverted nares, Short metacarpal, Short phalanx of f...	OMIM:614613
Intellectual Developmental Disorder, Autosomal Recessive 68	Periventricular leukomalacia, Hydrocephalus, Microcephaly, Pes planus, Wide nasal bridge	OMIM:618302
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Abnormal renal collecting system morphology, Hypospadias, Unilateral re...	ORPHA:468631
Hypertelorism-Microtia-Facial Clefting Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Thenar muscle atrophy, Mic...	ORPHA:2213
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Patent foramen ovale, Cafe-au-l...	OMIM:609053
Autosomal Dominant Cutis Laxa	Congestive heart failure, Aortic regurgitation, Unilateral renal agenesis, Corneal opacity, Ptosi...	ORPHA:90348
49,Xxxxy Syndrome	Hypoplasia of the corpus callosum, Brachycephaly, Clinodactyly of the 5th finger, Talipes equinov...	ORPHA:96264
Hypotrichosis 9	Hearing abnormality, Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Spa...	OMIM:614237
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio...	OMIM:619897
Ectodermal Dysplasia 4, Hair/Nail Type	Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ...	OMIM:602032
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Atrial septal defect, Clinodactyly of the 5th finger, Hydrocephalus, Broad to...	OMIM:612582
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Small earlobe, Microtia, Sensorineural hearing impair...	OMIM:216340
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Low-set ears, Foot oligodactyly, Holoprosencephaly, Short femur, Ventricu...	OMIM:601357
Bardet-Biedl Syndrome 12	Polydactyly, Cystic renal dysplasia, Hydroureter, Postaxial hand polydactyly, Hydronephrosis, Pos...	OMIM:615989
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic fingernail, Clinodactyly of the 5th finger, Triphalangeal thumb, Sensorineural hearin...	OMIM:220500
Pseudoprogeria Syndrome	Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Cranium bifidum occultum, Alopecia	ORPHA:2985
Saethre-Chotzen Syndrome	Clinodactyly of the 5th finger, Buphthalmos, Absent first metatarsal, Microtia, Low-set ears, Abn...	OMIM:101400
Aymé-Gripp Syndrome	Rocker bottom foot, Breast hypoplasia, Clinodactyly of the 5th finger, Hydrocephalus, Sensorineur...	ORPHA:1272
Monosomy 9P	Bilateral single transverse palmar creases, Microphthalmia, Thin nail, Proximal placement of thum...	ORPHA:261112
Rhombencephalosynapsis	Polydactyly, Short nose, Hydrocephalus, Finger syndactyly, Anteverted nares, Septo-optic dysplasi...	ORPHA:59315
Mosaic Trisomy 9	Rocker bottom foot, Abnormal lung lobation, Microphthalmia, Finger clinodactyly, Deep palmar crea...	ORPHA:99776
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Wide nasal base, Aplasia/Hypoplasia of the cerebellum, Camptodactyly, Hypoplasia of the pons, Fro...	ORPHA:397709
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Ab...	OMIM:274000
Wieacker-Wolff Syndrome, Female-Restricted	Rocker bottom foot, Brachycephaly, Urinary incontinence, Radial deviation of the hand, Anteverted...	OMIM:301041
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Abnormal...	ORPHA:3437
Spastic Paraplegia 52, Autosomal Recessive	Microcephaly, Prominent nose, Bulbous nose, Wide nasal bridge, Talipes equinovarus	OMIM:614067
Crisponi/Cold-Induced Sweating Syndrome 1	Limited elbow extension, Radial deviation of finger, Wide nose, Anteverted nares, Elbow flexion c...	OMIM:272430
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short nose, Hydrocephalus, Anteverted nares, Brachydactyly, Abnormality of the elbow	ORPHA:2701
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Synophrys, Ptosis, Cutaneous finger syndactyly, Thick eyebrow, Blepharophimosis	OMIM:210745
Lethal Congenital Contracture Syndrome 11	Elbow flexion contracture, Flexion contracture of finger, Camptodactyly, Bilateral talipes equino...	OMIM:617194
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia	OMIM:300978
Cardiofaciocutaneous Syndrome	Multiple lentigines, Sparse or absent eyelashes, Low posterior hairline, Pulmonic stenosis, Spars...	ORPHA:1340
Robinow Syndrome, Autosomal Recessive 2	Short nose, Sandal gap, Anteverted nares, Prominent fingertip pads, Camptodactyly, Broad thumb, F...	OMIM:618529
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Joint contracture of the hand, Short nose, Flexion contracture of toe, Spina ...	OMIM:193700
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Microtia, Conotruncal defect, Anotia	OMIM:243440
Palmoplantar Keratoderma And Woolly Hair	Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ...	OMIM:616099
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Brachycephaly, Lambdoidal craniosynostosis, Ulnar bowing, Hydrocephalus, Femo...	OMIM:207410
Periventricular Nodular Heterotopia 9	Clinodactyly of the 5th finger, Single transverse palmar crease, Microtia, Prominent fingertip pa...	OMIM:618918
Fanconi Anemia, Complementation Group L	Microphthalmia, Hydrocephalus, Microtia, Low-set ears, Bilateral talipes equinovarus, Cafe-au-lai...	OMIM:614083
Antley-Bixler Syndrome	Brachycephaly, Short nose, Turricephaly, Talipes, Anteverted nares, Femoral bowing, Choanal atres...	ORPHA:83
Crandall Syndrome	Brittle hair, Sensorineural hearing impairment, Sparse body hair, Aplasia/Hypoplasia of the eyebr...	ORPHA:202
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Highly arched eyebrow, Pulmonic stenosis, Bi...	OMIM:610759
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Astigmatism, Radial deviation of finger, Bone spicule pigmentation of ...	OMIM:209900
Peroxisome Biogenesis Disorder 7A (Zellweger)	Epiphyseal stippling, Polymicrogyria, Death in infancy, Flat occiput, Talipes equinovarus	OMIM:614872
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Arachnodactyly, Hand polydactyly, Tetralogy of Fallot, Atria...	ORPHA:261243
Timothy Syndrome	Pneumonia, Prolonged QT interval, Bradycardia, Bronchitis, Patent foramen ovale, Ventricular sept...	OMIM:601005
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Rodrigues Blindness	Protruding ear, Fine hair, Microphthalmia, Sparse hair	OMIM:268320
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Recurrent respiratory infections, Hearing impairment, Abnormality of skin pigment...	ORPHA:1806
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Short nose, Hypospadias, Hypercalciuria, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynos...	OMIM:614732
Thanatophoric Dysplasia, Type I	Temporal lobe dysplasia, Flared metaphysis, Hydrocephalus, Cloverleaf skull, Short greater sciati...	OMIM:187600
16P13.11 Microdeletion Syndrome	Short nose, Cyclopia, Anteverted nares, Microcephaly, Camptodactyly of finger, Holoprosencephaly,...	ORPHA:261236
Oliver Syndrome	Clinodactyly of the 5th finger, Hyperconvex fingernails, Small earlobe, Absent earlobe, Prominent...	ORPHA:2920
Chanarin-Dorfman Syndrome	Sensorineural hearing impairment, Microtia, Alopecia	OMIM:275630
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn...	OMIM:137920
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Microcephaly, Syndactyly, Pa...	OMIM:619091
Cutis Laxa, Autosomal Recessive, Type Ia	Congenital diaphragmatic hernia, Inguinal hernia, Ascending tubular aorta aneurysm, Umbilical her...	OMIM:219100
Refsum Disease	Nail dysplasia, Microphthalmia, Heart block, Hammertoe, Sensorineural hearing impairment, Cardiom...	ORPHA:773
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Radial deviation of finger, Abnormal pinna morphology, Wrist flexion contracture,...	OMIM:268300
Alg3-Cdg	Neural tube defect, Abnormal pinna morphology, Hypopigmentation of the skin, Cardiomyopathy, Hear...	ORPHA:79321
Pseudoachondroplasia	Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Genu...	OMIM:177170
Toriello-Carey Syndrome	Abnormal pinna morphology, Low-set ears, Cardiomyopathy, Hearing impairment, Pulmonic stenosis, S...	ORPHA:3338
Coronary Arterial Fistula	Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte...	ORPHA:2041
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect, Low anterior hairline	OMIM:608227
Lacrimoauriculodentodigital Syndrome 2	Abnormal thumb morphology, Microtia, Hearing impairment, Duplication of thumb phalanx, Cupped ear	OMIM:620192
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Focal T2 hypointense basal ganglia lesion, Increased CSF lactate, Talipes cavus equinovarus	ORPHA:139485
Multiple Benign Circumferential Skin Creases On Limbs	Irregular hyperpigmentation, Congestive heart failure, Microphthalmia, Low-set, posteriorly rotat...	ORPHA:2505
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Monosomy 13Q14	Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyl...	ORPHA:1587
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Nail dystrophy, Ventricular bigeminy, Myofiber disarray, Bicuspid aortic valve, Patent foramen ov...	OMIM:620519
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Epiphyseal stippling, Anosmia, Microcephaly, Short distal phalanx...	OMIM:302950
15Q24 Microdeletion Syndrome	Abnormal thumb morphology, Wide nasal base, Proximal placement of thumb, Hypospadias, Coloboma, M...	ORPHA:94065
Achondroplasia	Limited elbow extension, Narrow greater sciatic notch, Megalencephaly, Rhizomelia, Ulnar bowing, ...	OMIM:100800
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Brittle hair, Hyperpigmentation of the skin, Sparse eyebrow, Sparse ...	OMIM:104100
Gillessen-Kaesbach-Nishimura Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Omphalocele	OMIM:263210
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Short nose, Left unicoronal synostosis, Vesicoureteral reflux, Microcephaly, Short...	OMIM:614749
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Pigmentary retinopathy, Sparse hair, Alopecia	ORPHA:3363
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Small nail, Hypoplastic iliac wi...	ORPHA:96334
Larsen-Like Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Radial deviation of the 4th finger, Frontal bossin...	OMIM:608545
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Arthrogryposis Multiplex Congenita 5	Rocker bottom foot, Pes valgus, Limitation of knee mobility, Hammertoe, Premature skin wrinkling,...	OMIM:618947
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis, Highly arched eyebrow, Hyperextensibility of the finger joints, Postax...	OMIM:213980
Kabuki Syndrome 2	Recurrent otitis media, Atrioventricular canal defect, Highly arched eyebrow, Hirsutism, Prominen...	OMIM:300867
Ayme-Gripp Syndrome	Nail dystrophy, Broad eyebrow, Sensorineural hearing impairment, Microtia, Low-set ears, Sparse s...	OMIM:601088
Cystathioninuria	Cystathioninuria, Nephrolithiasis, Talipes equinovarus	ORPHA:212
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Secondary microcephaly, Death in childhood, Hydrocephalus, Dandy-Walker malformation, Anteverted ...	OMIM:612938
X Small Rings	Premature ovarian insufficiency, Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe ...	ORPHA:96201
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm	OMIM:617349
Chung-Jansen Syndrome	Short nose, Clinodactyly of the 5th finger, Anteverted nares, Hip dysplasia, Tapered finger	OMIM:617991
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Hypopigmented skin patches, Abnormal metaphysis morphology, Atrial septal defect, Clinodactyly of...	ORPHA:2637
Tetramelic Monodactyly	Split foot, Foot monodactyly, Split hand, Hand monodactyly	OMIM:187510
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Tetralogy of Fallot, Partial anom...	OMIM:617478
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Aplasia of the 1st metacarpa...	OMIM:142900
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Stenosis of the external au...	OMIM:606164
Lethal Osteosclerotic Bone Dysplasia	Microcephaly, Short nose, Anteverted nares, Depressed nasal ridge	ORPHA:1832
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Conductive hearing impairment, Sparse body hair, Sparse hair, Aplasi...	ORPHA:1006
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Nail dysplasia, Semilobar holoprosencephaly, Generalized hypopigmentation, Microtia, Hypoplastic ...	OMIM:129900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Low-set ears, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Pulm...	OMIM:617895
Treacher-Collins Syndrome	Microphthalmia, Hypoplasia of penis, Absent eyelashes, Blepharospasm, Downslanted palpebral fissu...	ORPHA:861
Aarskog-Scott Syndrome	Radial deviation of finger, Hyperextensibility of the finger joints, Short 5th finger, Single tra...	OMIM:305400
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Ptosi...	ORPHA:710
Schwartz-Jampel Syndrome, Type 1	Abnormal femoral epiphysis morphology, Flexion contracture of toe, Talipes equinovarus, Shoulder ...	OMIM:255800
Atelosteogenesis Type Ii	Wide nasal base, Sandal gap, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomel...	ORPHA:56304
Van Den Ende-Gupta Syndrome	Narrow foot, Dislocated radial head, Femoral bowing, Arachnodactyly, Slender metacarpals, Cranios...	OMIM:600920
Borjeson-Forssman-Lehmann Syndrome	Abnormal hip bone morphology, Camptodactyly of toe, Hearing impairment, Thick eyebrow, Short toe,...	ORPHA:127
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Periventricular white matter hyperintensities, Plagiocephaly, Long nose, Turricephaly, Clinodacty...	OMIM:620224
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Split hand, Talipes equinovarus	OMIM:607831
Opsismodysplasia	Abnormal metaphysis morphology, Short nose, Squared iliac bones, Hypoplastic pubic bone, Abnormal...	ORPHA:2746
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Turricephaly, Cone-shaped epiphyses of the phalanges of the hand, R...	OMIM:250220
Sponastrime Dysplasia	Short long bone, Congenital aphakia, Mesomelia, Metaphyseal irregularity, Flattened humeral epiph...	ORPHA:93357
Lujan-Fryns Syndrome	Low-set ears, Camptodactyly of finger, Arachnodactyly, Brachydactyly, Protruding ear, Atrial sept...	ORPHA:776
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the hand, Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nai...	ORPHA:2273
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers, Internal hemorrhage, Right ventricular hypertrophy, Left ven...	ORPHA:335
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Microtia, Synophrys, Thick eyebrow, Posteriorly rotated ears	OMIM:602562
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Deviation of the 5th toe, Sensorineural hearing impairment, Synophrys, Slender finger, Macrotia, ...	ORPHA:391408
Botulism	Mydriasis, Urinary retention, Arrhythmia	ORPHA:1267
Achondrogenesis, Type Ia	Stillbirth, Hypoplasia of the radius, Turricephaly, Short nose, Talipes equinovarus, Severe limb ...	OMIM:200600
Meier-Gorlin Syndrome 5	Slender long bone, Small earlobe, Microtia, Low-set ears, Hypoplasia of the capital femoral epiph...	OMIM:613805
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Narrow nasal ridge, Congenital hip dislocation, Cutis laxa, Frontal bossing, Umbil...	OMIM:219150
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal aortic arch morphology, Hypoplastic aortic arch, Interrupted aortic arch, Levotransposit...	ORPHA:860
Periventricular Nodular Heterotopia 1	Short finger, Cerebral hemorrhage, Syndactyly, Bicuspid aortic valve, Clinodactyly	OMIM:300049
Ritscher-Schinzel Syndrome 2	Clinodactyly of the 5th finger, Prominent fingertip pads, Low posterior hairline, Camptodactyly, ...	OMIM:300963
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger,...	OMIM:618870
Charge Syndrome	Polydactyly, Microphthalmia, Abnormal tibia morphology, Low-set, posteriorly rotated ears, Clinod...	ORPHA:138
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Cortical dysplasia, Polymicrogyria, Narrow nasal ridge, Underdeveloped nasal alae, Camptodactyly,...	OMIM:618343
Trichinellosis	Retinal hemorrhage, Anisocoria, Abnormal optic nerve morphology, Conjunctival hyperemia, Abnormal...	ORPHA:863
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Patent foramen ovale, Hypotension, Long fingers, Posteriorly rotated ears, ...	OMIM:615668
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Stillbirth, Radial club hand, Hydrocephalus, Renal hypoplasia, Absent thumb	OMIM:276950
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Pes cavus, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upp...	ORPHA:101097
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Microtia, Recurrent upper respiratory tract infections	OMIM:620137
Leukodystrophy, Hypomyelinating, 10	Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Short nose, Antevert...	OMIM:616420
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Dystrophic fingernails, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Hyperconvex fin...	ORPHA:1071
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Microtia	OMIM:168550
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Gastrointestinal hemorrhage, Highly arched eyebrow, Optic nerve hypoplasia, S...	ORPHA:508488
9Q21.13 Microdeletion Syndrome	Polydactyly, Long palpebral fissure, Ptosis, Hydronephrosis, Hip dysplasia	ORPHA:531151
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th toe, Medial flaring of the eyebrow, Clinodactyly of the 5th finger, Broad...	OMIM:620113
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Slow-growing hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine hair	OMIM:129490
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Clinodactyly of the 5th finger, Hypopigmentation of hair, Telecanthus, Finger syndactyl...	ORPHA:1974
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect	ORPHA:254351
Codas Syndrome	Short nose, Midline defect of the nose, Hydroureter, Delayed eruption of teeth, Anteverted nares,...	ORPHA:1458
Cri-Du-Chat Syndrome	Optic atrophy, Abnormality of the kidney, Hypospadias, Short metatarsal, Single transverse palmar...	OMIM:123450
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Craniosynostosis, Rhizomelia, ...	OMIM:166250
3Mc Syndrome 3	Preaxial polydactyly, Penoscrotal hypospadias, Horseshoe kidney, Highly arched eyebrow, Blepharop...	OMIM:248340
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Death in in...	OMIM:601559
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Camptodactyly of finger, Umbilical hernia	ORPHA:1488
Chromosome 19Q13.11 Deletion Syndrome, Distal	Nail dysplasia, Clinodactyly of the 5th finger, Low-set ears, Sparse eyelashes, Cutaneous finger ...	OMIM:613026
Cronkhite-Canada Syndrome	Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, A...	ORPHA:2930
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Hammertoe, Pes cavus, Ulnar claw, Talipes equinovarus	OMIM:608340
Spastic Paraplegia 86, Autosomal Recessive	Periventricular white matter hyperintensities, Thin corpus callosum, Talipes equinovalgus, Bilate...	OMIM:619735
Heterotaxy, Visceral, 12, Autosomal	Left superior vena cava draining to coronary sinus, Partial anomalous pulmonary venous return, Hy...	OMIM:619702
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Ventral hernia, Omphalocele...	OMIM:313850
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Abnormal aortic morphology,...	ORPHA:251071
Roberts Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Radial deviation of finger, Mesomelic...	ORPHA:3103
17Q24.2 Microdeletion Syndrome	Abnormality of the wrist, Cubitus valgus, Recurrent otitis media, Prolonged QT interval, Upper li...	ORPHA:529962
Al-Gazali Syndrome	Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Corneal opacity, ...	OMIM:609465
Intellectual Developmental Disorder, Autosomal Dominant 21	Single transverse palmar crease, Low-set ears, Long eyelashes, Posteriorly rotated ears, Atrial s...	OMIM:615502
Developmental And Epileptic Encephalopathy 80	Hypoplasia of the corpus callosum, Triphalangeal thumb, Polymicrogyria, Death in infancy, Increas...	OMIM:618580
Craniofacial Dyssynostosis With Short Stature	Hypoplasia of the corpus callosum, Brachycephaly, Hypospadias, Hydrocephalus, Brachyturricephaly,...	OMIM:218350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Persistent pupillary membrane, Cataract, Buphthalmos, Peters anomaly	OMIM:613150
Branchiooculofacial Syndrome	Premature graying of hair, Microphthalmia, Proximal placement of thumb, Sensorineural hearing imp...	OMIM:113620
Focal Facial Dermal Dysplasia 3, Setleis Type	Low anterior hairline, Absent lower eyelashes, Distichiasis, Sparse hair	OMIM:227260
Velocardiofacial Syndrome	Right aortic arch with mirror image branching, Inguinal hernia, Interrupted aortic arch, Pulmonar...	OMIM:192430
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Epidermolysis Bullosa, Junctional 1B, Severe	Nail dysplasia, Nail dystrophy, Syndactyly, Death in infancy	OMIM:226700
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Short nose, Clinodactyly of the 5th finger, Sandal gap, Frontal bos...	OMIM:618430
Marshall-Smith Syndrome	Highly arched eyebrow, Optic nerve hypoplasia, Prominent fingertip pads, Hypertension, Premature ...	OMIM:602535
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrog...	ORPHA:370959
Shukla-Vernon Syndrome	Long fingers, Tapered finger, Sparse hair	OMIM:301029
Achondrogenesis	Short nose, Anteverted nares, Micromelia, Frontal bossing, Umbilical hernia	ORPHA:932
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Low-set ears, Horizontal eyebrow, Epicanthus, Protruding ear, Overlapping toe, Na...	OMIM:618571
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Talipes equinovarus	OMIM:614399
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Hypoplasia of the corpus callosum, Plagiocephaly, Short nose, Hypospadias, Na...	ORPHA:363528
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Ectopic kidney, Hydrocephalus, Forearm undergrowth, Bowed forearm bones, Ab...	OMIM:602200
Mucolipidosis Ii Alpha/Beta	Short long bone, Hypopigmentation of the skin, Flat acetabular roof, Flared iliac wing, Sparse ha...	OMIM:252500
Collagenoma, Familial Cutaneous	Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Iris...	OMIM:115250
Noonan Syndrome 7	Cubitus valgus, Deep palmar crease, Low-set ears, Low posterior hairline, Curly hair, Pulmonic st...	OMIM:613706
Tyshchenko Syndrome	Thick hair, Low-set ears, Pulmonic stenosis, Posteriorly rotated ears, Low anterior hairline, Atr...	OMIM:615102
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Underdeveloped nasal alae, Frontal bossing, Broad nasal tip, Holoprosencepha...	ORPHA:250999
Igg4-Related Aortitis	Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort...	ORPHA:449400
Monilethrix	Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia	OMIM:158000
20Q13.33 Microdeletion Syndrome	Atrial septal defect, Low-set, posteriorly rotated ears, Talipes equinovarus, Highly arched eyebr...	ORPHA:261311
Apert Syndrome	Convex nasal ridge, Delayed eruption of teeth, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Fi...	ORPHA:87
Al Kaissi Syndrome	Deep palmar crease, Abnormal pinna morphology, Low-set ears, Synophrys, Posteriorly rotated ears,...	OMIM:617694
Alfadhel Syndrome	Microcephaly, Bulbous nose, Horseshoe kidney, Talipes equinovarus	OMIM:620655
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Long nose, Enlarged metaphyses, Short metac...	ORPHA:508533
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal fibula morphology, Short nose, Sandal gap, Hypoplasia of penis, Hydrocephalus, Dry skin,...	ORPHA:1812
Genitopatellar Syndrome	Atrial septal defect, Low-set ears, Sparse scalp hair, Hypoplastic ilia, Hypoplastic ischia, Hear...	ORPHA:85201
Abruzzo-Erickson Syndrome	Coloboma, Hypospadias, Radioulnar synostosis	OMIM:302905
Charcot-Marie-Tooth Disease Type 4G	Pes cavus, Abnormality of the hand, Distal lower limb muscle weakness, Distal upper limb muscle w...	ORPHA:99953
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Nephronophthisis, Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus,...	OMIM:615630
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Broad nasal tip, Enuresis	OMIM:613670
Carey-Fineman-Ziter Syndrome	Short nose, Aplasia of the pectoralis major muscle, Glandular hypospadias, Cerebral calcification...	ORPHA:1358
Williams Syndrome	Hypoplasia of penis, Hypertension, Corneal opacity, Cerebral ischemia, Pulmonic stenosis, Nephroc...	ORPHA:904
Perlman Syndrome	Bilateral single transverse palmar creases, Short nose, Hypoplasia of penis, Anteverted nares, Do...	ORPHA:2849
Trigonocephaly 1	Short nose, Long penis, Microcephaly, Trigonocephaly, Craniosynostosis, Wide nasal bridge	OMIM:190440
Charge Syndrome	Mixed hearing impairment, Microphthalmia, Sensorineural hearing impairment, Microtia, Absent tibi...	OMIM:214800
Branchioskeletogenital Syndrome	Mixed hearing impairment, Telecanthus, Highly arched eyebrow, Attached earlobe, Upper limb perome...	ORPHA:1299
Trisomy 20P	Brachycephaly, Plagiocephaly, Short nose, Abnormal foot morphology, Talipes, Hypospadias, Abnorma...	ORPHA:261318
Retinoblastoma	Retinoblastoma, Retinal calcification, Leukocoria, Vitreous hemorrhage, Vitritis	OMIM:180200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukonychia, Microphthalmia, Abnormal hair morphology, Chylothorax, Anophthalmia, Abnormal eyelas...	ORPHA:2526
Cerebrofacioarticular Syndrome	Caudal appendage, Microtia, Camptodactyly, Pulmonic stenosis, Conductive hearing impairment, Abno...	ORPHA:314679
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Talipes equinovarus	OMIM:132800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Microcephaly, Frontal bossing, Short toe, Wide nasal bridge, Talipes equinovarus	ORPHA:98791
Zaki Syndrome	Broad distal phalanx of finger, Patent foramen ovale, Sparse scalp hair, Hypoplasia of the phalan...	OMIM:619648
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ...	OMIM:300373
Ehlers-Danlos Syndrome, Classic-Like, 1	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ...	ORPHA:3255
Schöpf-Schulz-Passarge Syndrome	Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Palmoplantar keratoderma, ...	ORPHA:50944
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Aortic valve stenosis, Bicuspid aortic valve, Cardiomegaly, Sacral h...	ORPHA:363705
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Patent foramen ovale, Low-set ears, Adducted thumb, Atrial septal defect	ORPHA:89844
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Sparse hair	ORPHA:1174
Coffin-Siris Syndrome 6	Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Brachydactyly, Atrial sept...	OMIM:617808
2,4-Dienoyl-Coa Reductase Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Increased CSF lysine concentration, Death in...	OMIM:616034
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Low-set, posteriorly ...	ORPHA:1786
Dihydropyrimidinase Deficiency	Plagiocephaly, Uraciluria, Elevated urinary dihydrothymine level, Elevated urinary dihydrouracil ...	OMIM:222748
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Perimembranous ventricular septal defect, Radial deviation of finger, Sensorineural hearing impai...	OMIM:301040
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Epiphyseal stippling, Abnormal basal ganglia morphology, Neuronal loss in the cerebral cortex, Sh...	ORPHA:86822
Vater/Vacterl Association	Occipital encephalocele, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Ect...	OMIM:192350
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo...	ORPHA:166119
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Ventricular septal defect, Neonatal death, Death in infancy	OMIM:613730
Noonan Syndrome 10	Cubitus valgus, Hyperpigmentation of the skin, Low-set ears, Ventricular septal defect, Hypertrop...	OMIM:616564
Raine Syndrome	Brachycephaly, Plagiocephaly, Short nose, Hydroureter, Choanal atresia, Hydrocephalus, Cerebral c...	OMIM:259775
Non-Distal Duplication 13Q	Short nose, Postaxial hand polydactyly, Microcephaly, Arachnodactyly, Trigonocephaly	ORPHA:1702
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Aplasia/Hypop...	ORPHA:3320
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Saul-Wilson Syndrome	Convex nasal ridge, Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges ...	OMIM:618150
Wolf-Hirschhorn Syndrome	Chronic otitis media, High anterior hairline, Low-set, posteriorly rotated ears, Hypoplastic pubi...	ORPHA:280
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Adducted thum...	ORPHA:2182
Yunis-Varon Syndrome	Rocker bottom foot, Microphthalmia, Abnormal finger morphology, Abnormal pinna morphology, Cardio...	ORPHA:3472
Neuropathy, Congenital Hypomyelinating, 3	Hypoplasia of the corpus callosum, Abnormal foot morphology, 2-3 toe syndactyly, Bilateral talipe...	OMIM:618186
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Low-set ears, Absent nipple, Congenital hip dislocation, Ptosis, Downslanted palp...	OMIM:104350
Poland Syndrome	Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly	OMIM:173800
Temple Syndrome	Clinodactyly of the 5th finger, Hydrocephalus, Frontal bossing, Short foot, Small hand	ORPHA:254516
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se...	OMIM:617912
Stolerman Neurodevelopmental Syndrome	Hypermelanotic macule, Clinodactyly of the 5th finger, Telecanthus, Hypoplastic nipples, Cafe-au-...	OMIM:618505
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Hypoplastic iliac wing, Sensorineural hearing impairm...	OMIM:235510
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Upper limb asymmetry, Clinodactyly of the 5th finger	ORPHA:231140
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Sensorineural hearing impairment, Aortic valve s...	OMIM:601808
Cutis Laxa, Autosomal Recessive, Type Iib	Excessive wrinkled skin, Hydrocephalus, Narrow nasal ridge, Redundant skin, Bowing of the long bo...	OMIM:612940
Alagille Syndrome 2	Hematuria, Renal tubular acidosis, Hypertension, Renal cyst, Pulmonic stenosis, Posterior embryot...	OMIM:610205
Congenital Myopathy 24	Pes cavus, Scapular winging, Talipes equinovarus	OMIM:617336
Spondylocarpotarsal Synostosis Syndrome	Short metacarpal, Tarsal synostosis, Bowed humerus, Anteverted nares, Frontal bossing, Broad nasa...	OMIM:272460
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Congenital finger flexion contractures, Bilateral talipes equinovarus, Deviation of finger, Arach...	ORPHA:1154
Senior-Loken Syndrome 9	Polydactyly, Nephronophthisis, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tu...	OMIM:616629
Triploidy	Low-set, posteriorly rotated ears, Meningocele, Finger syndactyly, Hydrocephalus, Aplasia/Hypopla...	ORPHA:3376
Global Developmental Delay With Or Without Impaired Intellectual Development	Pulmonary sequestration, Atrial septal defect, Ventricular septal defect, Low-set ears	OMIM:618330
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Hypoplastic fingernail, Clinodactyly of the 5th finger, Low-set ears, Ectrodactyly, ...	ORPHA:397590
Phace Association	Microphthalmia, Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasia, Coarctation of aort...	OMIM:606519
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Broad eyebrow, Low-set, posteriorly rotated ears, Hearing impairment, Ptosis, Epi...	ORPHA:494344
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Renal insufficiency, Hydrocephalus, Cerebellar vermis hypoplasia, Anteve...	ORPHA:1454
Microphthalmia, Syndromic 1	Microphthalmia, Renal hypoplasia/aplasia, Radial deviation of finger, Prominent fingertip pads, A...	OMIM:309800
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of finger, Umbilical hernia, Anom...	ORPHA:2311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia, Muscular dystrophy	OMIM:615181
Partial Atrioventricular Septal Defect	Atrial flutter, Abnormal tricuspid valve morphology, Angina pectoris, Bacterial endocarditis, Syn...	ORPHA:1330
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Distal Deletion 12Q	Clinodactyly of the 5th finger, Small nail, Single transverse palmar crease, 2-3 toe syndactyly, ...	ORPHA:96149
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Microtia, Short femur, Frontal upsweep of hair, Ventricular septal defect	OMIM:617798
Robinow Syndrome, Autosomal Dominant 2	Partial duplication of the phalanx of hand, Short nose, Anteverted nares, Camptodactyly, Broad th...	OMIM:616331
Alg8-Cdg	Hypoplasia of the corpus callosum, Premature skin wrinkling, Camptodactyly, Cerebral cortical atr...	ORPHA:79325
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Thin corpus callosum, Camptodactyly, Reduced cerebral white matter volume, Microcephaly, Wide nas...	OMIM:617333
Intellectual Developmental Disorder, Autosomal Recessive 5	Thick eyebrow, 4-5 toe syndactyly, Sparse hair, Synophrys	OMIM:611091
Desbuquois Dysplasia 2	Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Short long bone, Fl...	OMIM:615777
Mend Syndrome	Microphthalmia, Hydrocephalus, 2-3 toe syndactyly, Abnormal auditory evoked potentials, Low-set e...	ORPHA:401973
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Breast aplasia, Aplasia/H...	ORPHA:570
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Spina bifida occulta, Highly arched eyebrow, Overfolded helix, Low-set ears, Low posterior hairli...	OMIM:617360
Chromosome 5P13 Duplication Syndrome	Single transverse palmar crease, Low-set ears, Low posterior hairline, Long fingers, Large hands,...	OMIM:613174
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Hypospadias, Dandy-Walker malformation, Anteverted nares, ...	OMIM:248700
Bohring-Opitz Syndrome	Atrial septal defect, Deep palmar crease, Thick hair, Dislocated radial head, Mesomelic/rhizomeli...	OMIM:605039
Fibrochondrogenesis 1	Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Short nose, Rhizomelia, Clinodactyl...	OMIM:228520
Chromosome 3Q29 Duplication Syndrome	Short nose, Multiple palmar creases, Microcephaly, Pes planus, Bulbous nose, Wide nasal bridge	OMIM:611936
Frank-Ter Haar Syndrome	Short long bone, Mitral valve prolapse, Patent foramen ovale, Camptodactyly, Cafe-au-lait spot, S...	OMIM:249420
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Telecanthus, Broad thumb, Camptodacty...	ORPHA:1236
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Hearing impairment, Sparse eyebrow, Low-set ears, Sparse hair	OMIM:619989
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm	OMIM:618238
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Narrow iliac wing, Microtia, Short palm, Posteriorly rotated ears...	OMIM:300712
Retinoblastoma	Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero...	ORPHA:790
Cardiac-Valvular Ehlers-Danlos Syndrome	Atrial septal defect, Pulmonary insufficiency, Genu valgum, Aortic regurgitation, Sandal gap, Abn...	ORPHA:230851
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Low posterior hairline, Spina bifida, Hearing impairment, Ventricul...	ORPHA:2345
Warburg Micro Syndrome 2	Secondary microcephaly, Hypoplasia of the corpus callosum, Global brain atrophy, Clinodactyly of ...	OMIM:614225
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Arachnodactyly, Protruding ear, Atrial septal defect, Ventricular septal defect, M...	OMIM:301039
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Cubitus valgus, Spina bifida occulta, Slender long bone, Genu recurvatum, Anteverted ...	ORPHA:1185
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Mydriasis, Diaphyseal dysplasia, Optic nerve compression, Optic neuropathy, Broad ...	OMIM:619727
Distal 22Q11.2 Microduplication Syndrome	Palpebral edema, Unilateral renal agenesis, Tricuspid regurgitation, Camptodactyly of toe, Campto...	ORPHA:261337
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Revesz Syndrome	Exudative retinopathy, Megalocornea, Leukocoria	OMIM:268130
Paternal Uniparental Disomy Of Chromosome 5	Abnormally large globe, Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short l...	ORPHA:96190
Kallmann Syndrome-Heart Disease Syndrome	Double outlet right ventricle, Anomalous origin of left coronary artery from the pulmonary artery...	ORPHA:2326
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic leg shortening, Redundant neck skin, Colpocephaly, Abnormal 5...	ORPHA:397715
Nablus Mask-Like Facial Syndrome	Sandal gap, Short hallux, Highly arched eyebrow, Single transverse palmar crease, Absent eyelashe...	OMIM:608156
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Flexion contracture of toe, Hypogonadotropic hypogonadism, Finger joint contracture	ORPHA:48431
Fg Syndrome 5	Short nose, Hypospadias, Anteverted nares, Trigonocephaly, Depressed nasal bridge	OMIM:300581
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Adducted thumb, Flexion contracture of finger, Talipes equinovarus, Bilateral talipes equinovarus	OMIM:618484
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy	OMIM:268100
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Subependymal cysts, Redundant neck skin, Brachyturricephaly, Renal cortical m...	OMIM:214100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Nail dystrophy, Facial hirsutism, Generalized hypopigmentation, Microtia, Hypoplastic nipples, Sp...	OMIM:604292
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Macrotia, Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolys...	ORPHA:371428
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Single transverse palmar crease, Micromelia, Thick eyebrow, Syndactyly, Broad hallux,...	OMIM:614800
Cantú Syndrome	Abnormal metaphysis morphology, Curly eyelashes, Short hallux, Finger syndactyly, Low posterior h...	ORPHA:1517
Noonan Syndrome 4	High anterior hairline, Cubitus valgus, Low-set ears, Hypertrophic cardiomyopathy, Curly hair, Pu...	OMIM:610733
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Ectropion, Microphthalmia, Brittle hair, Low-set ears, Tiger tail banding, ...	OMIM:616395
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Coarctation of aorta, Inguinal hernia	ORPHA:2409
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Slow-growing hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse hair, Palmoplant...	OMIM:618535
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal foot morpho...	OMIM:615599
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Corneal opacity, Nephrocalcinosis, Multiple renal cysts, Abnormal epiphysis morph...	ORPHA:534
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Death in childhood, Recurrent respiratory infections, Hirsutism, Clubbi...	OMIM:617303
Chromosome 10Q26 Deletion Syndrome	Limited elbow extension, 2-3 toe cutaneous syndactyly, Radial deviation of finger, Clinodactyly o...	OMIM:609625
Distal 22Q11.2 Microdeletion Syndrome	Abnormal earlobe morphology, Sandal gap, Highly arched eyebrow, Sensorineural hearing impairment,...	ORPHA:261330
Rhizomelic Limb Shortening With Dysmorphic Features	Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of the finger joints, Single trans...	OMIM:618821
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, Optic nerve hypoplasia, Low posterior hairline, Pulmonic stenosis, Sparse ...	OMIM:617506
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Omphalocele	ORPHA:95706
Nance-Horan Syndrome	Protruding ear, Microphthalmia, Short metacarpal	ORPHA:627
Jansen-De Vries Syndrome	Central diaphragmatic hernia	OMIM:617450
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Hypoplasia of the corpus callosum, Patellar hypoplasia, Anteverted nares, Coloboma, Vesicouretera...	ORPHA:464288
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Clinodactyly of the 5th finger, Spina bifida occulta, Microtia, Pulmonar...	OMIM:301030
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Long nose, Sandal gap, Camptodactyly, Arachnodactyly, Hip dysplasia, Pes planus, Wide nasal bridg...	OMIM:617146
Peho Syndrome	Short nose, Hydrocephalus, Anteverted nares, Porencephalic cyst, Biparietal narrowing, Cerebral c...	ORPHA:2836
Paganini-Miozzo Syndrome	Low-set ears, Microtia, Posteriorly rotated ears	OMIM:301025
Ellis Van Creveld Syndrome	Nail dysplasia, Short distal phalanx of finger, Abnormal hair morphology, Abnormality of the nail...	ORPHA:289
Lathosterolosis	Short nose, Talipes, Meningocele, Hypoplasia of penis, Cerebral calcification, Anteverted nares, ...	ORPHA:46059
Lambotte Syndrome	Microcephaly, Semilobar holoprosencephaly, Convex nasal ridge, Preaxial foot polydactyly	OMIM:245552
Faciodigitogenital Syndrome, Autosomal Recessive	Clinodactyly of the 5th finger, Microtia, Short foot, Camptodactyly, Metatarsus adductus, Hearing...	OMIM:227330
Burn-Mckeown Syndrome	Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge	ORPHA:1200
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Inferior cerebellar vermis h...	OMIM:615485
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Hypospadias, Microcephaly, Absent t...	ORPHA:96097
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Long hallux, Tapered finger, Short nose	OMIM:619854
Combined Oxidative Phosphorylation Deficiency 25	Cerebral atrophy, Short nose, Anteverted nares, Hypoplasia of the pons, Syndactyly, Ventriculomeg...	OMIM:616430
Van Maldergem Syndrome 1	Short 4th metacarpal, Short clavicles, Sensorineural hearing impairment, Microtia, Camptodactyly,...	OMIM:601390
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Pes cavus, Upper limb undergrowth, Short 3rd metacarpal, Front...	OMIM:169400
Miller-Dieker Lissencephaly Syndrome	Hypoplasia of the corpus callosum, Polydactyly, Short nose, Deep palmar crease, Clinodactyly of t...	OMIM:247200
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair	OMIM:234030
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent eyebrow, Spar...	OMIM:604536
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of femur, Unilateral renal agenesis, Metaphyseal chondromatosis of tib...	ORPHA:99646
3Q29 Microdeletion Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Low-set ears, Pulmonary arterial hypertension, Ab...	ORPHA:65286
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Recurrent lower respiratory tract infections, Broad thumb, Macrotia, Long hallux, Secundum atrial...	OMIM:620194
Coach Syndrome 2	Hydrocephalus, Cerebellar vermis hypoplasia, Coloboma, Chorioretinal coloboma, Agenesis of corpus...	OMIM:619111
Mullegama-Klein-Martinez Syndrome	Polydactyly, Absent stapes, High anterior hairline, Clinodactyly of the 5th finger, Curly eyelash...	OMIM:301022
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Lissencephaly, Hydrocephalus, Communicating hydrocephalus, Microcephaly, Frontal bossing, Colpoce...	OMIM:615219
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Highly arched eyebrow...	ORPHA:1001
Humeroradial Synostosis	Humeroradial synostosis, Small earlobe, Microtia	OMIM:236400
Meacham Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Anomalous pulmonary venous ...	ORPHA:3097
Cutis Laxa, Autosomal Recessive, Type Iia	Short nose, Excessive wrinkled skin, Dandy-Walker malformation, Polymicrogyria, Redundant skin, A...	OMIM:219200
Nail-Patella Syndrome	Patellar dislocation, Disproportionate prominence of the femoral medial condyle, Biceps aplasia, ...	OMIM:161200
Seckel Syndrome 9	Recurrent respiratory infections, Pulmonary artery hypoplasia, Hypertrichosis, Protruding ear, At...	OMIM:616777
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Sensorineura...	OMIM:602782
Nail-Patella Syndrome	Abnormal femur morphology, Dislocated radial head, Contracture of the distal interphalangeal join...	ORPHA:2614
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Death in childhood, Microspherophakia, Optic nerve hypoplasia, Low-set ...	OMIM:620609
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Broad thumb, Bicuspid aortic valve, Short 5th finger, Ove...	ORPHA:508498
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Hypoplasia of the corpus callosum, Short nose, Choanal atresia, Chorioretinal coloboma, Cerebella...	ORPHA:284169
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Redundant neck skin, Deep palmar crease, Proximal placement of thumb, Clinodactyly of the 5th fin...	OMIM:604314
Diamond-Blackfan Anemia 6	Triphalangeal thumb, Ventricular hypertrophy, Tetralogy of Fallot, Short thumb, Mitral valve prol...	OMIM:612561
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Atrial sept...	OMIM:607941
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Ptosis, Orthostatic hypotension, Anisocoria	OMIM:615510
Prune1-Related Neurological Syndrome	Cerebral atrophy, Plagiocephaly, Thin corpus callosum, Bilateral talipes equinovarus, Microcephaly	ORPHA:544469
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Equinovarus deformity, Encephalocele, Hydrocephalus, Short long bon...	OMIM:224400
Beare-Stevenson Cutis Gyrata Syndrome	Limited elbow extension, Redundant neck skin, Hypospadias, Craniosynostosis, Hydrocephalus, Clove...	OMIM:123790
Microcephaly 26, Primary, Autosomal Dominant	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Short nose, Extra-axial cerebrospi...	OMIM:619179
Peho Syndrome	Hypoplasia of the corpus callosum, Short nose, Progressive microcephaly, Polymicrogyria, Pachygyr...	OMIM:260565
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clinodactyly of the 5th finger, Hydroureter, Spina bifida occulta, Craniosynostosis, Wide nose, S...	OMIM:300707
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, Cerebellar vermis hypoplasia, Polymicrogyria, Tibial...	OMIM:277170
Charcot-Marie-Tooth Disease, Type 4B3	Distal lower limb muscle weakness, Urinary incontinence, Microcephaly, Syndactyly, Pes planus	OMIM:615284
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Right aortic arch, Truncus arteriosus, Abnormal inferior vena ...	ORPHA:980
Meier-Gorlin Syndrome 2	Breast hypoplasia, Slender long bone, Abnormal pinna morphology, Microtia, Camptodactyly, Patella...	OMIM:613800
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair, Protruding ear	OMIM:619691
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Short finger, 2-3 toe cutaneous syndactyly, Absent antihelix, Clinodactyly of the 5th finger, Sin...	OMIM:300998
Holoprosencephaly 7	Cranial asymmetry, Microcephaly, Hydrocephalus, Hypoplastic nasal septum, Depressed nasal tip, Fr...	OMIM:610828
Mosaic Trisomy 16	Large placenta, Single transverse palmar crease, Abnormal ear morphology, Profuse pigmented skin ...	ORPHA:1708
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Telecanthu...	ORPHA:364577
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Short metacarpal, Low posterior hairli...	OMIM:601358
Frontometaphyseal Dysplasia	Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Short metacarpal, Broa...	ORPHA:1826
Heart And Brain Malformation Syndrome	Microphthalmia, Attached earlobe, Low-set ears, Camptodactyly of finger, Hand clenching, Posterio...	OMIM:616920
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology...	OMIM:614931
Hypotrichosis And Recurrent Skin Vesicles	Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla...	OMIM:613102
Cockayne Syndrome Type 1	Hypermelanotic macule, Anophthalmia, Hypertension, Absent brainstem auditory responses, Hearing i...	ORPHA:90321
Tetrasomy 15Q26	Hydrocephalus, Low-set ears, Camptodactyly, Arachnodactyly, Atrial septal defect, Cupped ear	OMIM:614846
Tarp Syndrome	Rocker bottom foot, Low-set, posteriorly rotated ears, Finger syndactyly, Single transverse palma...	ORPHA:2886
Neurotrophic Keratopathy	Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr...	ORPHA:137596
Non-Acquired Isolated Growth Hormone Deficiency	Genu valgum, Sparse hair	ORPHA:631
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Optic nerve hypoplasia, Abnormal femoral head morpho...	ORPHA:536471
Warburg Micro Syndrome 3	Secondary microcephaly, Hypoplasia of the corpus callosum, Brachycephaly, Short nose, Clinodactyl...	OMIM:614222
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Talipe...	ORPHA:2879
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Low-set ears, Posteriorly rotated ears, Sparse hair, Simple ear, Protruding ear	OMIM:620001
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Single transverse palmar crease, Low-set ears, Low posterior hairline, Broad thumb, Sparse eyebro...	OMIM:619720
Cardiofaciocutaneous Syndrome 1	Multiple lentigines, Low posterior hairline, Pulmonic stenosis, Sparse hair, Deep palmar crease, ...	OMIM:115150
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Camptodactyly	ORPHA:412035
Spastic Paraplegia 51, Autosomal Recessive	Long nose, Microcephaly, Cerebral cortical atrophy, Ventriculomegaly, Bulbous nose, Wide nasal br...	OMIM:613744
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Hypoplasia of the corpus callosum, Short nose, Narrow nasal bridge, Metacarpophalangeal joint con...	ORPHA:544503
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Proteinuria, Stage 5 ...	ORPHA:650
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Recurrent respiratory infections, Pulmonic stenosis, Recurrent sinusitis,...	OMIM:618282
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Genu valgum, Abnormal metacarpal morphology, Hypoplasia ...	ORPHA:1295
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Meier-Gorlin Syndrome 6	Emphysema, Sandal gap, Stenosis of the external auditory canal, Microtia, Umbilical hernia, Condu...	OMIM:616835
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu valgum, Hydrocephalus, Dislocated radial head, Genu recurvatum, Anteverted nares, Brachyturr...	OMIM:182212
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Developmental Delay With Or Without Dysmorphic Facies And Autism	Microcephaly, Umbilical hernia, Ventriculomegaly, Narrow nose, 2-3 toe cutaneous syndactyly, Cere...	OMIM:618454
Fountain Syndrome	Abnormal metacarpal morphology, Spina bifida occulta, Sensorineural hearing impairment, Synophrys...	ORPHA:3219
Acquired Hypertrichosis Lanuginosa	Hypopigmentation of hair, Abnormal eyelid morphology, Abnormal eyebrow morphology, Generalized hi...	ORPHA:2221
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Coarctation of aorta, Congenital diaphragmatic hernia, Camptodactyly	OMIM:617602
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Hypospadias, Short middle phalanx of the 5th finger, Abnormality ...	OMIM:180860
Aredyld Syndrome	Low-set, posteriorly rotated ears, Abnormal tragus morphology, Abnormal pelvic girdle bone morpho...	ORPHA:1133
Pontocerebellar Hypoplasia, Type 8	Patent foramen ovale, Low-set ears, Synophrys, Long eyelashes, Thick eyebrow, Hypertrichosis, Pos...	OMIM:614961
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Microcephaly	ORPHA:26
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Hammertoe, Abnormal optic nerve morphology, Anisocoria, Hip dysplasia	ORPHA:99949
Jaberi-Elahi Syndrome	Brittle hair, Low-set ears, Sparse eyelashes, Sparse eyebrow, Hand clenching, Sparse hair, Protru...	OMIM:617988
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hypoplasia of the corpus callosum, Megalencephaly, Rhizomelia, Urinary incontinence, Hydrocephalu...	OMIM:616482
Congenital Disorder Of Glycosylation, Type Iq	Abnormality of skin pigmentation, Microphthalmia, Low-set ears, Hypertrichosis	OMIM:612379
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Upper eyelid entropion, Clinodactyly of the 5th finger, Unilateral renal agenesis, Optic nerve hy...	ORPHA:457284
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Multiple lentigines, Loose anagen hair, Deep palmar crease, Cubitus valgus, Aortic regurgitation,...	OMIM:607721
Alg12-Cdg	Proximal placement of thumb, Sandal gap, Progressive microcephaly, Redundant skin, Short long bon...	ORPHA:79324
20Q11.2 Microduplication Syndrome	Limited elbow extension, Deep palmar crease, Clinodactyly of the 5th finger, Low-set, posteriorly...	ORPHA:363659
Chromosome Xq13 Duplication Syndrome	Limited elbow extension, Clinodactyly of the 5th finger, Metatarsus adductus, Hip dysplasia, Hype...	OMIM:301069
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Death in infancy	OMIM:258320
Trisomy 17P	Talipes, Clinodactyly of the 5th finger, Wide nose, Hypoplasia of penis, Hydrocephalus, Polycysti...	ORPHA:261290
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Short metacarpal, Broad metatarsal, Shallow orbits, Pulmonic stenosis...	OMIM:608328
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis	OMIM:619227
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Cubitus valgus, Highly arched eyebrow, Chylothorax, Low-set ears, Low posterior hairline, Cafe-au...	OMIM:613563
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hypoplasia of the corpus callosum, Pes cavus, Brachycephaly, Abnormal cortical gyration, Small ha...	OMIM:300968
Baker-Gordon Syndrome	Short nose, Prominent nasal tip, Abnormal foot morphology	OMIM:618218
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Redundant neck skin, Proximal placement of thumb, Hypospadias, Anteverted nares, Micr...	OMIM:217980
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sensorineural hearing impairment, Hearing impairment, Macrotia, Sparse hair, Fine hair, Down-slop...	OMIM:616817
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Neuroocular Syndrome	Microphthalmia, Small nail, Highly arched eyebrow, Stellate iris, Prominent fingertip pads, Nasol...	OMIM:619539
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Low posterior hairli...	ORPHA:1323
Acrocallosal Syndrome	Prominent occiput, Bifid distal phalanx of the thumb, Umbilical hernia, Hypospadias, Postaxial ha...	OMIM:200990
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Delayed epiphyseal ossification, Cone-shaped epiphyses of the phalanges of the hand, ...	OMIM:618618
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Hearing impairment, Microtia, Low-set ears	OMIM:619056
19P13.13 Microdeletion Syndrome	Brachycephaly, Deep plantar creases, Short nose, Sandal gap, Optic nerve hypoplasia, Anteverted n...	ORPHA:357001
Foxp1 Syndrome	Short nose, Single transverse palmar crease, Prominent fingertip pads, Broad nasal tip, Prominent...	ORPHA:391372
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Advanced eruption of teeth, Progressive microcephaly, Cerebral cortical atrophy, Broa...	OMIM:617865
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia	OMIM:149000
Neurocardiofaciodigital Syndrome	Polydactyly, Vesicoureteral reflux, Sparse eyebrow, Sclerocornea, Syndactyly, Cataract, Narrow pa...	OMIM:619869
Heterotaxy, Visceral, 1, X-Linked	Short long bone, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Trans...	OMIM:306955
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Epistaxis, Hematochezia, ...	OMIM:203300
Microphthalmia, Syndromic 6	Polydactyly, Abnormality of the hand, Microphthalmia, Clinodactyly of the 5th finger, Anophthalmi...	OMIM:607932
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Rocker bottom foot, Multiple muscular ventricular septal defects, Sparse eyelashes, Pericardial e...	OMIM:620070
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Chronic otitis media, Abnormal hip bone morphology, S...	ORPHA:1507
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Bilateral ptosis, Dislocated radial head, Arachnodactyly, Syndactyly, Hip dis...	OMIM:265000
Cardioacrofacial Dysplasia 2	Nail dysplasia, Genu valgum, Clinodactyly of the 5th finger, Atrioventricular canal defect, Clubb...	OMIM:619143
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Unilateral renal agenesis, Short long bone, Bilateral talipes e...	OMIM:620454
Serkal Syndrome	Congenital diaphragmatic hernia	ORPHA:139466
Smith-Mccort Dysplasia 2	Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B...	OMIM:615222
Brittle Cornea Syndrome	Sensorineural hearing impairment, Abnormality of hair pigmentation, Camptodactyly, Pulmonic steno...	ORPHA:90354
Harel-Yoon Syndrome	Talipes equinovalgus, Frontal bossing, Short nose, Hip dysplasia	OMIM:617183
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Bilateral talipes equinovarus, Atresia of the external auditory canal, Mesomelia, Limb undergrowt...	OMIM:601356
Trichodental Dysplasia	Slow-growing hair, Fine hair, Sparse hair, Brittle hair	OMIM:601453
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Microtia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the lungs	ORPHA:1834
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Short nose, Frontal bossing, Thin calvarium	ORPHA:1129
Cat Eye Syndrome	Microphthalmia, Tricuspid atresia, Stenosis of the external auditory canal, Low-set ears, Total a...	OMIM:115470
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of lower limbs, Talipes equinovarus, Areflexia of upper limbs	OMIM:616155
Frontonasal Dysplasia 2	Short palpebral fissure, Microphthalmia, Telecanthus, Low-set ears, Sparse eyelashes, Sparse eyeb...	OMIM:613451
Pontocerebellar Hypoplasia, Type 10	Hypoplasia of the corpus callosum, Short nose, Low hanging columella, Progressive microcephaly, R...	OMIM:615803
Parkinson Disease 15, Autosomal Recessive Early-Onset	Talipes equinovarus	OMIM:260300
Desmosterolosis	Short nose, Rhizomelia, Hydrocephalus, Anteverted nares, Bilateral talipes equinovarus, Microceph...	OMIM:602398
Nance-Horan Syndrome	Broad finger, Macrotia, Microphthalmia, Short phalanx of finger	OMIM:302350
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Talipes equinovarus, Flared metaphysis, Bowing of the long bones, Hypoplastic ilia, Cutis laxa, F...	OMIM:615349
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Chronic otitis media, Clinodactyly of the 5th finger,...	ORPHA:96167
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
Spondyloepimetaphyseal Dysplasia, Krakow Type	Clinodactyly of the 5th finger, Rhizomelia, Knee flexion contracture, Delayed pubic bone ossifica...	OMIM:618162
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Dextrocardia, Microtia, Low-set ears, Atrial septal defect, Talipes equinovarus	OMIM:277380
Goldberg-Shprintzen Syndrome	Clinodactyly of the 5th finger, Aortic regurgitation, Highly arched eyebrow, Low-set ears, Synoph...	OMIM:609460
Lacrimoauriculodentodigital Syndrome 1	Recurrent corneal erosions, Hypoplasia of the lacrimal punctum, Limbal stem cell deficiency, Bila...	OMIM:149730
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Sandal gap, 2-3 toe syndactyly, Abnormal pinna morphology, Patent foramen ovale, Abnormal heart m...	ORPHA:477817
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Intellectual Developmental Disorder, Autosomal Dominant 73	Bilateral single transverse palmar creases, Limited elbow extension, Increased arm span, Recurren...	OMIM:620450
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear...	ORPHA:216694
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal foot morpho...	ORPHA:397951
16P11.2P12.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Long nose, Short nose, Proximal placement of thumb, A...	ORPHA:261211
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr...	OMIM:618719
Developmental And Epileptic Encephalopathy 66	Clinodactyly of the 5th finger, Dextrocardia, Synophrys, Atrial septal defect, Ventricular septal...	OMIM:618067
Autosomal Recessive Dopa-Responsive Dystonia	Talipes equinovarus, Pes cavus, Decreased CSF homovanillic acid concentration	ORPHA:101150
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly, Finger aplasia	OMIM:207770
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia, Inguinal hernia	ORPHA:2063
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Telecanthus, Het...	ORPHA:3440
Hallermann-Streiff Syndrome	Abnormality of the hand, Microphthalmia, Recurrent respiratory infections, Slender long bone, Hyp...	OMIM:234100
Toluene Embryopathy	Short nose, Biparietal narrowing, Microcephaly, Hydronephrosis, Tapered finger	ORPHA:1920
Giant Axonal Neuropathy	Pes cavus, Genu valgum, Abnormal hand morphology, Abnormality of the Achilles tendon, Talipes equ...	ORPHA:643
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse body hair, Sparse hair	ORPHA:1810
Cntnap2-Related Developmental And Epileptic Encephalopathy	Pes cavus, Periventricular leukomalacia, Preaxial polydactyly	ORPHA:163681
Chromosome 1P36 Deletion Syndrome, Distal	Sensorineural hearing impairment, Microtia, Abnormality of the hairline, Bicuspid aortic valve, S...	OMIM:607872
Glass Syndrome	Long nose, Anterior tibial bowing, Anteverted nares, Camptodactyly, Microcephaly, Arachnodactyly,...	OMIM:612313
Arthrogryposis, Distal, Type 3	Single transverse palmar crease, Ulnar deviation of the hand or of fingers of the hand, Congenita...	OMIM:114300
Penoscrotal Transposition	Penoscrotal transposition, Hypospadias, Abnormality of the ureter, Renal agenesis, Epicanthus, Re...	ORPHA:2842
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly, Short nose, Hydrocephalus, Delayed ossification of carpal bones, Cerebral cortical...	OMIM:239300
Ciliary Dyskinesia, Primary, 53	Persistent left superior vena cava, Right aortic arch	OMIM:620642
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Small nail, Abnormal pinna morphology, Hypoplastic nipples, Sparse hair, Arrhythmia	OMIM:273400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of skin pigmentation, Microphthalmia, Abnormality of retinal pigmentation	OMIM:251270
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Malan Syndrome	Hypoplasia of the corpus callosum, Short nose, Advanced eruption of teeth, Long fingers, Ventricu...	OMIM:614753
Congenital Disorder Of Glycosylation, Type Iia	Proximal placement of thumb, Slender long bone, Sensorineural hearing impairment, Hirsutism, Low-...	OMIM:212066
Marshall-Smith Syndrome	Short nose, Craniosynostosis, Slender long bone, Anteverted nares, Bowing of the long bones, Choa...	ORPHA:561
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Calf muscle hypertrophy, Talipes equinovarus	OMIM:616827
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b...	ORPHA:2788
Ellis-Van Creveld Syndrome	Epispadias, Genu valgum, Hypospadias, Talipes equinovarus, Delayed eruption of teeth, Dandy-Walke...	OMIM:225500
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Genu valgum, Abnormal metacarpal morphology, Hydrocephalus, Abnor...	ORPHA:53
Noonan Syndrome 2	Hypermelanotic macule, Prominent fingertip pads, Cardiomyopathy, Low posterior hairline, Pulmonic...	OMIM:605275
Myasthenic Syndrome, Congenital, 24, Presynaptic	Talipes equinovarus, Abnormal foot morphology, Camptodactyly, Knee flexion contracture	OMIM:618198
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Glycosylphosphatidylinositol Biosynthesis Defect 25	Coarse hair, Death in childhood, Sparse hair	OMIM:619985
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Short nose, Anteverted nares, Elbow flexion contracture, Porencephalic cyst, Bilateral talipes eq...	OMIM:612394
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Advanced eruption of teeth, Talipes equinovarus, Finger syndactyly, Hemiatrophy, M...	ORPHA:2215
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Congenital diaphragmatic hernia, Elbow flexion contracture	OMIM:618022
Lathosterolosis	2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Short nose, Talipes equinovarus, Ante...	OMIM:607330
Teebi Hypertelorism Syndrome 1	Short nose, Anteverted nares, Coronal craniosynostosis, Frontal bossing, Natal tooth, Broad palm,...	OMIM:145420
X-Linked Intellectual Disability, Cantagrel Type	Hypoplasia of the corpus callosum, Ventriculomegaly, Short nose, Cerebral cortical atrophy	ORPHA:85277
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Abnormal heart m...	ORPHA:185
Townes-Brocks Syndrome	Microphthalmia, Absent toe, Abnormal pinna morphology, Microtia, Broad thumb, Aplasia/Hypoplasia ...	ORPHA:857
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Genu valgum, Hypoplasia of the ovary, Generalized hypopigmentation, Optic nerve hypoplasia, Alope...	OMIM:619321
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Trisomy 10P	Abnormality of the nose, Abnormality of the hand, Short nose, Abnormal foot morphology, Ulnar dev...	ORPHA:171929
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Baller-Gerold Syndrome	Brachycephaly, Short nose, Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hy...	ORPHA:1225
Ichthyosis, Congenital, Autosomal Recessive 11	Curly eyelashes, Brittle hair, Abnormality of the nail, Curly hair, Sparse eyelashes, Sparse body...	OMIM:602400
Marshall Syndrome	Small distal femoral epiphysis, Small proximal tibial epiphyses, Short nose, Clinodactyly of the ...	OMIM:154780
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Hypoplasia of the corpus callosum, Pes cavus, Secondary microcephaly, Short nose, Diffuse cerebra...	ORPHA:289266
Fontaine Progeroid Syndrome	Microphthalmia, Small nail, Low posterior hairline, Death in infancy, Abnormal heart morphology, ...	OMIM:612289
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebral atrophy, Progressive microcephaly, Talipes equinovarus	OMIM:618917
Kleefstra Syndrome 1	Brachycephaly, Hypospadias, Single transverse palmar crease, Anteverted nares, Persistence of pri...	OMIM:610253
Cartilage-Hair Hypoplasia	Limited elbow extension, Metaphyseal cupping, Femoral bowing, Abnormal pelvic girdle bone morphol...	OMIM:250250
48,Xxxy Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Talipes equinovarus, Delayed eruption of teeth, Hy...	ORPHA:96263
Arthrogryposis, Distal, Type 5	Absent phalangeal crease, Recurrent patellar dislocation, Congenital finger flexion contractures,...	OMIM:108145
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cerebral atrophy, Pes cavus, Genu recurvatum, Split hand, Talipes equinovarus	OMIM:604168
Cranioectodermal Dysplasia 3	Nephronophthisis, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Dry skin, Postaxial polydactyly, Cu...	OMIM:614099
Familial Cutaneous Collagenoma	Congestive heart failure, Angina pectoris, Cardiomyopathy, Abnormality of skin pigmentation, Atri...	ORPHA:53296
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Arachnodactyly, Slender long bones with narrow diaphyses, Craniosynostosis, Adducted thumb, Hydro...	ORPHA:536467
X-Linked Intellectual Disability, Nascimento Type	Nail dystrophy, Low posterior hairline, Patchy hypo- and hyperpigmentation, Overlapping toe, Pate...	ORPHA:163956
Congenital Disorder Of Glycosylation, Type Il	Cerebral atrophy, Brachycephaly, Global brain atrophy, Short nose, Polycystic kidney dysplasia, M...	OMIM:608776
Leukocyte Adhesion Deficiency Type Ii	Recurrent otitis media, Broad eyebrow, Small earlobe, Microtia, Long eyelashes, Conductive hearin...	ORPHA:99843
White-Sutton Syndrome	Congenital diaphragmatic hernia, Optic nerve hypoplasia, Facial hypotonia, Patent ductus arteriosus	OMIM:616364
Autosomal Recessive Multiple Pterygium Syndrome	Popliteal pterygium, Axillary pterygium, Hearing abnormality, Multiple pterygia, Telecanthus, Pte...	ORPHA:2990
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Patent foramen o...	OMIM:613884
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Short long bone, Femoral bowing, Metaphyseal spurs, F...	OMIM:618188
Myoclonic-Astatic Epilepsy	Microphthalmia, Frontal balding, Syndactyly	ORPHA:1942
Lelis Syndrome	Nail dystrophy, Yellow nails, Sparse lateral eyebrow, Abnormal toenail morphology, Perioral hyper...	ORPHA:140936
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic stenosis, Contractu...	OMIM:618223
Joubert Syndrome 33	Syndactyly	OMIM:617767
Barber-Say Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Stenosis of the external auditory canal, Hyp...	OMIM:209885
Au-Kline Syndrome	Deep plantar creases, Bifid nasal tip, Lipomyelomeningocele, Craniosynostosis, Ventriculomegaly, ...	OMIM:616580
Kleefstra Syndrome	Brachycephaly, Short nose, Advanced eruption of teeth, Hypospadias, Delayed eruption of teeth, Hy...	ORPHA:261494
Dystonia, Dopa-Responsive	Pes cavus, Talipes equinovarus	OMIM:128230
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Atrial septal defect, Abnormality of the outer ear	ORPHA:466926
Monosomy 18Q	Hydrocephalus, Biparietal narrowing, Microcephaly, Arachnodactyly, Abnormal palmar dermatoglyphic...	ORPHA:1600
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Partial anomalous pulmonary venous return, Dextrocard...	OMIM:619657
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Nail dystrophy, Hyperpigmentation of the skin, Absent eyelashes, 2-3 toe syndactyly, Patchy alope...	OMIM:106260
Desmosterolosis	Abnormality of the nose, Short nose, Abnormal cortical gyration, Talipes, Lissencephaly, Hydrocep...	ORPHA:35107
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Distal lower limb muscle weakness, Talipes equinovarus	ORPHA:466794
Dermoodontodysplasia	Toenail dysplasia, Trichodysplasia, Sparse scalp hair, Sparse body hair, Melanocytic nevus, Finge...	ORPHA:1660
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Renal hypoplasia, Urethral obstruction, Talipes equinovarus	OMIM:601389
Congenital Disorder Of Glycosylation, Type Iu	Secondary microcephaly, Short nose, Cerebral white matter atrophy, Death in infancy, Cerebellar h...	OMIM:615042
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Microcephaly, Short nose, Brachycephaly, Slender nose	OMIM:615419
Wieacker-Wolff Syndrome	Cerebral atrophy, Proximal placement of thumb, Anteverted nares, Camptodactyly, Microcephaly, Pal...	OMIM:314580
Leopard Syndrome 1	Limited elbow movement, Cubitus valgus, Hypospadias, Unilateral renal agenesis, Scapular winging,...	OMIM:151100
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Reduced cereb...	OMIM:620156
Witkop Syndrome	Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ...	OMIM:189500
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart morphology, Hypopigmentatio...	ORPHA:70472
Arthrogryposis, Distal, Type 5D	Limited elbow movement, Anteverted nares, Elbow flexion contracture, Calcaneovalgus deformity, Ca...	OMIM:615065
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Re...	ORPHA:2237
Tetrasomy 18P	Microcephaly, Short nose, Large hands	ORPHA:3307
Diaphanospondylodysostosis	Short nose, Enlarged kidney, Hammertoe, Talipes equinovarus, Polymicrogyria, Depressed nasal ridg...	OMIM:608022
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Proximal placement of thumb, Hydrocephalus, Hand polydactyly, Neonatal death, Sh...	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	Hypoplasia of the ulna, Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Dislocated r...	OMIM:602471
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Alopecia of scalp, Unilateral microphthalmos, Sparse eyelashes, Cafe-au-lait spot, Sparse eyebrow...	OMIM:618874
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypoplasia of the corpus callosum, Abnormal cortical gyration, Hypospadias, Trigonocephaly, Front...	OMIM:177980
Ruijs-Aalfs Syndrome	Premature graying of hair, Single transverse palmar crease, Elbow flexion contracture, Clinodacty...	OMIM:616200
D-Bifunctional Protein Deficiency	Hypoplasia of the corpus callosum, Cerebral dysmyelination, Hammertoe, Polymicrogyria, Cortical d...	OMIM:261515
Autosomal Recessive Spastic Paraplegia Type 59	Talipes equinovarus	ORPHA:401795
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Plagiocephaly, Short nose, Progressive microcephaly, Optic nerve hypoplasia, Retinal coloboma, Di...	OMIM:300749
Cree Mental Retardation Syndrome	Rocker bottom foot, Low-set ears, Cutaneous finger syndactyly, Downslanted palpebral fissures, Pt...	OMIM:606851
Ear-Patella-Short Stature Syndrome	Clinodactyly of the 5th finger, Slender long bone, Breast aplasia, Microtia, third degree, Low-se...	ORPHA:2554
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Atrial septal defect, Ventricular sep...	OMIM:615279
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Absent hair, Nail dystrophy, Trichorrhexis nodosa, Ridged nail, Meningocele, Abnormality of the n...	ORPHA:1010
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Patent ductus arteriosus	OMIM:613309
Microform Holoprosencephaly	Short nose, Cyclopia, Hypoplasia of penis, Narrow nasal bridge, Anteverted nares, Choanal atresia...	ORPHA:280200
Mandibuloacral Dysplasia	Hypoplastic fingernail, Abnormally large globe, Short clavicles, Osteolytic defects of the distal...	ORPHA:2457
Microtia With Meatal Atresia And Conductive Deafness	Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear	OMIM:251800
Hawkinsinuria	Fine hair, Sparse hair	ORPHA:2118
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebral atrophy, Brachycephaly, Hypoplasia of the ulna, Lambdoidal craniosynostosis, Hydroureter...	OMIM:615398
Neurocutaneous Melanocytosis	Meningocele, Death in infancy, Abnormality of retinal pigmentation, Generalized hirsutism, Melano...	ORPHA:2481
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Iris coloboma, Palmar pits, Hydrocephalus, Calcification of fa...	OMIM:109400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyelashes, Pleural effusion, Sparse scalp hair, Absent eyebrow, Sparse body hair, Plantar ...	ORPHA:69735
Microtia-Anotia	Microtia, Holoprosencephaly, Anotia	OMIM:600674
Holoprosencephaly 9	Microphthalmia, Alobar holoprosencephaly, Hydrocephalus, Optic nerve hypoplasia, Anophthalmia, Un...	OMIM:610829
Peroxisome Biogenesis Disorder 2A (Zellweger)	Death in childhood, Cubitus valgus, Turricephaly, Single transverse palmar crease, Polycystic kid...	OMIM:214110
46,Xx Sex Reversal 5	Aplasia of the left hemidiaphragm	OMIM:618901
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ...	ORPHA:1686
Campomelic Dysplasia	Fibular hypoplasia, Tibial bowing, Femoral bowing, Bowing of the long bones, Short long bone, Hyp...	ORPHA:140
Scapuloperoneal Spinal Muscular Atrophy	Peroneal muscle weakness, Scapular winging, Metatarsus adductus, Peroneal muscle atrophy, Scapula...	OMIM:181405
Intellectual Developmental Disorder, Autosomal Recessive 65	Contracture of the proximal interphalangeal joint of the 4th finger, Abnormal pinna morphology, S...	OMIM:618109
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Synophrys, Postaxial polydactyly, Epicanthus, Proximal renal tubular acidosis, Upslanted palpebra...	OMIM:615824
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Hypoplasia of the corpus callosum, Low hanging columella, Renal cyst, Microcephaly, Frontal bossi...	OMIM:617260
Serotonin Syndrome	Mydriasis, Acute kidney injury, Hypertension, Hypotension, Tachycardia	ORPHA:43116
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short nose, Clinodactyly of the 5th finger, Sandal gap, Spina bifida occulta, Anteverted nares, S...	OMIM:617877
Adult Syndrome	Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Split hand, Sparse scalp hair, Absent ...	OMIM:103285
Orofaciodigital Syndrome I	Polydactyly, Radial deviation of finger, Hydrocephalus, Hypertension, Short 2nd toe, Low-set ears...	OMIM:311200
Encephalopathy Due To Sulfite Oxidase Deficiency	Microcephaly, Short nose, Aminoaciduria	ORPHA:833
Frontoocular Syndrome	Low-set ears, Atrial septal defect, Posteriorly rotated ears, Pulmonic stenosis	OMIM:605321
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Sensorineural hearing impairment, Cardiac arrest, Paroxysmal atrial tac...	ORPHA:49827
Koolen-De Vries Syndrome	Abnormality of hair texture, Prominent fingertip pads, Anteverted ears, Slender finger, Narrow pa...	OMIM:610443
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Single transverse palmar crease, Sensorineural hearing impairment, Branchial c...	ORPHA:435938
Witteveen-Kolk Syndrome	Microphthalmia, Radial deviation of finger, Proximal placement of thumb, Shallow orbits, Arachnod...	OMIM:613406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Progressive microcephaly, Type II lissencephaly, Agyria, Coloboma, Microcephaly, A...	OMIM:615249
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short humerus, Sparse hair, Bicuspid aortic valve, Short distal phala...	OMIM:218330
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cyclopia, Absent nares, Talipes, Hypospadias, Encephalocele, Hypoplasia of penis, Hydrocephalus, ...	ORPHA:2166
Barth Syndrome	Congestive heart failure, Increased left ventricular end-diastolic volume, Recurrent bronchitis, ...	OMIM:302060
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Long nose, Short nose, Delayed eruption of teeth, Low hanging columella, Anteverted nares, Underd...	OMIM:615866
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hydrocephalus, Lateral ventricular asymmetry, Hyperextensibility of the finger joints, Narrow nas...	OMIM:616914
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Microtia, Neonatal death	OMIM:619817
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted...	OMIM:618447
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb...	OMIM:184705
Mosaic Variegated Aneuploidy Syndrome 1	Brachycephaly, Short nose, Hypospadias, Multicystic kidney dysplasia, Wide nose, Hydrocephalus, D...	OMIM:257300
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Horseshoe kidney, Ectopic kidney	ORPHA:3109
15Q Overgrowth Syndrome	Turricephaly, Clinodactyly of the 5th finger, Craniosynostosis, Hydrocephalus, Dandy-Walker malfo...	ORPHA:314585
Craniofacial Microsomia 1	Occipital encephalocele, Microphthalmia, Genu valgum, Anophthalmia, Hydrocephalus, Sensorineural ...	OMIM:164210
Oculoskeletodental Syndrome	Hypercalciuria, Elbow flexion contracture, Renal agenesis, Mucopolysacchariduria, Developmental c...	OMIM:618440
Eec Syndrome	Renal hypoplasia/aplasia, Entropion, Corneal erosion, Hypospadias, Proximal placement of thumb, A...	ORPHA:1896
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short nose, Genu valgum, Flared metaphysis, Hydrocephalus, Delayed epiphyseal ossification, Under...	OMIM:616007
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Umbilical hernia	OMIM:273390
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair, Short foot, Small hand	OMIM:300869
Lamellar Ichthyosis	Chronic otitis media, Abnormality of the nail, Abnormal helix morphology, Sparse hair, Aplasia/Hy...	ORPHA:313
Orofaciodigital Syndrome Type 4	Abnormality of the ear, Bilateral lung agenesis, Finger syndactyly, Microtia, third degree, Posta...	ORPHA:2753
Campomelic Dysplasia	Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Tibial bowing, Short long bone, C...	OMIM:114290
You-Hoover-Fong Syndrome	Coarctation of aorta, Vascular ring, Double aortic arch	OMIM:616954
Sotos Syndrome	High anterior hairline, Genu valgum, Muscular ventricular septal defect, Small nail, Low-set ears...	OMIM:117550
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Transposition of the great arteries, Inguinal hernia, Interrupte...	OMIM:600001
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Overriding aorta, Microphthalmia	OMIM:309801
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Highly arched eyebrow, Iris atrophy, Hyphema, Pulmonic sten...	ORPHA:261552
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Postaxial hand polydactyly	ORPHA:1389
Renpenning Syndrome 1	Situs inversus totalis, Atrial septal defect, Death in childhood, Clinodactyly of the 5th finger,...	OMIM:309500
Perrault Syndrome 1	Pes cavus, Talipes equinovarus	OMIM:233400
Hurler Syndrome	Diaphyseal undertubulation, Cranial hyperostosis, Hydrocephalus, Short clavicles, Anteverted nare...	OMIM:607014
Menke-Hennekam Syndrome 1	Protruding ear, Clinodactyly of the 5th finger, Sandal gap, Absent earlobe, Hip dysplasia, Low-se...	OMIM:618332
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short finger, Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5...	OMIM:608670
Mesomelia-Synostoses Syndrome	Carpometacarpal synostosis, Short metatarsal, Telecanthus, Metacarpal synostosis, Distal femoral ...	OMIM:600383
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cubitus valgus, Talipes calcaneovarus, Microcephaly, Large hands, Prominent nasal bridge, Brachyd...	OMIM:300534
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Congestive heart failure, Emphysema, Absent eyelashes, Ventricular hyp...	ORPHA:363618
Monosomy 13Q34	Abnormal earlobe morphology, Postaxial hand polydactyly, Horizontal eyebrow, Pulmonic stenosis, C...	ORPHA:96168
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Sparse hair, Pulmonary fibrosis, Fine hair, Alopecia	ORPHA:1839
Fryns Syndrome	Rocker bottom foot, Stillbirth, Microphthalmia, Proximal placement of thumb, Facial hirsutism, Sm...	OMIM:229850
Central Core Disease	Pes planus, Talipes equinovarus, Congenital hip dislocation	ORPHA:597
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Elbow flexion contracture, Low-set ear...	OMIM:178110
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Thin corpus callosum, Broad 2nd toe, Umbilical hernia, Clinodactyly, Long foot, Camptodactyly, Fr...	OMIM:280000
De Barsy Syndrome	Brachycephaly, Excessive wrinkled skin, Delayed eruption of teeth, Cerebellar vermis hypoplasia, ...	ORPHA:2962
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Abnormal number of hair whorls, Bicuspid aortic valve, Radial deviation of finger, Sandal gap, Lo...	OMIM:618164
9Q33.3Q34.11 Microdeletion Syndrome	Brachycephaly, Plagiocephaly, Fixed elbow flexion, Patellar hypoplasia, Wide nose, Single transve...	ORPHA:495818
Localized Junctional Epidermolysis Bullosa	Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Sparse pu...	ORPHA:251393
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Mucopolysaccharidosis, Type Ivb	Thin corpus callosum, Cervical myelopathy, Genu valgum, Keratan sulfate excretion in urine, Bilat...	OMIM:253010
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Telangiectasia ...	ORPHA:100
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Alobar holoprosencephaly, Optic nerve hypoplasia, Microtia, Patent f...	OMIM:301043
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Mydriasis, Bidirectional shunt, Anuria, Fetal megacystis, Ren...	OMIM:619351
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Abnormal pinna morphology, Sparse b...	ORPHA:3068
Chops Syndrome	Thick hair, Patent foramen ovale, Anomalous pulmonary venous return, Synophrys, Long eyelashes, C...	OMIM:616368
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Tetralogy of Fallot	ORPHA:1780
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Type II lissencephaly, Lateral ventricle dilatation, Primary microcephaly...	ORPHA:300570
Intellectual Developmental Disorder, Autosomal Dominant 72	Low-set ears, Spina bifida, Uplifted earlobe, Posteriorly rotated ears, Broad palm	OMIM:620439
Multiple Sulfatase Deficiency	Cerebral atrophy, Hydrocephalus, Anteverted nares, Increased CSF protein concentration, Abnormal ...	OMIM:272200
Cloacal Exstrophy	Abnormal fibula morphology, Abnormal tibia morphology, Ectopic kidney, Hydroureter, Absent foot, ...	ORPHA:93929
Mogs-Cdg	Pulmonary edema, Sensorineural hearing impairment, Hirsutism, Absent brainstem auditory responses...	ORPHA:79330
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short nose, Redundant neck skin, Excessive wrinkled skin, Lissencephaly, Dandy-Walker malformatio...	ORPHA:357074
Genitopalatocardiac Syndrome	Hypospadias, Hydrocephalus, Postaxial hand polydactyly, Microcephaly, Brachydactyly, Multicystic ...	ORPHA:2075
Plaa-Associated Neurodevelopmental Disorder	Hypoplasia of the corpus callosum, Rocker bottom foot, Short nose, Abnormal cortical gyration, Hy...	ORPHA:521426
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Thin corpus callosum, Talipes equinovarus, Single transverse palm...	OMIM:619743
Oculocutaneous Albinism Type 1	Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash...	ORPHA:352731
Fanconi Anemia, Complementation Group E	Microphthalmia, Absent radius, Hyperpigmentation of the skin, Cafe-au-lait spot, Hearing impairme...	OMIM:600901
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Inter...	ORPHA:90308
Zttk Syndrome	Optic atrophy, Polyuria, Unilateral renal agenesis, Aortic regurgitation, Broad eyebrow, Short fo...	OMIM:617140
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Nail dystrophy, Abnormality of the nail, Arachnodactyly, Abnormal fin...	ORPHA:678
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Optic nerve hypoplasia, Tiger tail banding, Sparse eyebrow, Spar...	OMIM:300953
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Ankle flexion contract...	OMIM:617802
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor, Syndactyly	OMIM:615631
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Telecanthus, Finger syndactyly, Adactyly, Split hand, Abnormal fin...	ORPHA:989
Hermansky-Pudlak Syndrome 4	Epistaxis, Hypoplasia of the fovea, Pulmonary fibrosis, Albinism, Ocular albinism	OMIM:614073
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Ureteral stenosis, Abnormal nasopharynx morphology, Short distal phalanx of finger...	OMIM:269150
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Short nose, Death in childhood, Low insertion of columella, Anteverted nares, Unde...	OMIM:619005
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia, Meningocele	ORPHA:1759
Isolated Congenital Alacrima	Corneal erosion, Lacrimal gland hypoplasia, Distichiasis, Ptosis, Keratitis, Conjunctivitis, Lacr...	ORPHA:91416
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Short nose, Turricephaly, Cerebellar vermis hypoplasia, Anteverted nares, Agenesis...	OMIM:601853
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Secondary microcephaly, Abnormality of the hand, Short nose, Urinary incontinence, Clinodactyly o...	ORPHA:476126
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Brachycephaly, Plagiocephaly, Hy...	ORPHA:500055
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Triphalangeal thumb, Abnormality of the upper limb, Microtia,...	ORPHA:124
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Wide nose, Progressive microcephal...	OMIM:607143
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Hypoplasia of the corpus callosum, Broad thumb, Short palm, Abnormal cerebral white matter morpho...	OMIM:614501
Bathing Suit Ichthyosis	Nail dystrophy, Autoamputation of digits, Sparse hair, Palmoplantar hyperkeratosis, Alopecia	ORPHA:100976
Indomethacin Embryofetopathy	Atrial septal defect, Ventricular septal defect, Cardiomyopathy	ORPHA:1909
Holoprosencephaly 14	Aqueductal stenosis, Subependymal cysts, Cyclopia, Proboscis, Alobar holoprosencephaly, Hydroceph...	OMIM:619895
Developmental And Epileptic Encephalopathy 75	Hypoplasia of the corpus callosum, Secondary microcephaly, Short nose, Frontal cortical atrophy, ...	OMIM:618437
Methylmalonic Acidemia With Homocystinuria Type Cblf	Methylmalonic aciduria, Unilateral renal agenesis	ORPHA:79284
Mucolipidosis Type Ii	Sensorineural hearing impairment, Cardiomyopathy, Abnormal mitral valve morphology, Umbilical her...	ORPHA:576
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Hyperpigmentation of the skin, Trichoepithelioma, Sparse hair, Pili torti, ...	OMIM:301845
Gaucher Disease, Perinatal Lethal	Microtia, Low-set ears, Neonatal death, Pulmonary hypoplasia, Cardiomegaly	OMIM:608013
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Cerebral atrophy, Turricephaly, Death in infancy, Arachnodactyly, Scaphocephaly, Talipes equinovarus	OMIM:619036
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Highly arched eyebrow, Hypoplasia of the ant...	ORPHA:221120
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Ventriculomeg...	OMIM:134780
Degcags Syndrome	Premature graying of hair, Microphthalmia, Sensorineural hearing impairment, Hypopigmentation of ...	OMIM:619488
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Talipes equinovarus	OMIM:619465
Orofaciodigital Syndrome Type 1	Cone-shaped epiphysis, Tarsal synostosis, Dandy-Walker malformation, Postaxial hand polydactyly, ...	ORPHA:2750
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ...	OMIM:271640
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation, Arachnodactyly, Dolichocephaly, Slender toe	OMIM:310400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Inguinal hernia, Anophthalmia	ORPHA:2250
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Limited elbow extension, Short nose, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Met...	OMIM:271510
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Cutis laxa, Syndactyly, Ventriculomegaly, Hypospadias, Elbow flexion contracture, C...	OMIM:151050
Primary Pulmonary Hypoplasia	Pneumothorax, Dextrocardia, Patellar hypoplasia, Low-set ears, Secundum atrial septal defect, Pul...	ORPHA:2257
Alazami Syndrome	Atrial septal defect, Sparse eyebrow, Low-set ears, Slender long bone	ORPHA:319671
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Hydrocephalus, Microcephaly, Abnormal cerebral white matter morphology...	ORPHA:2169
Robinow Syndrome, Autosomal Dominant 3	Patent foramen ovale, Low-set ears, Pulmonary artery atresia, Camptodactyly, Long eyelashes, Broa...	OMIM:616894
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Talipes, Scapular winging, Congenital finger flexion contractures,...	OMIM:620351
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v...	OMIM:620203
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Lacrimal...	OMIM:613266
Trisomy 8P	Clinodactyly of the 5th toe, Clinodactyly of the 2nd finger, Microcephaly, Nephrocalcinosis, Over...	ORPHA:264450
Smooth Muscle Dysfunction Syndrome	Mydriasis, Hypertension, Retinal infarction, Pulmonary arterial hypertension	OMIM:613834
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Neonatal death, White eyelashes, White e...	OMIM:600501
Aorta Coarctation	Hypoplastic aortic arch, Coarctation of the descending aortic arch, Coronary artery atheroscleros...	ORPHA:1457
Spinocerebellar Ataxia, Autosomal Recessive 21	Talipes equinovarus	OMIM:616719
Olmsted Syndrome 1	Nail dysplasia, Nail dystrophy, Autoamputation of digits, Sparse hair, Subungual hyperkeratosis, ...	OMIM:614594
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Flared metaphysis, Mesomelic/rhizomelic limb shortening, Low-set ear...	ORPHA:2347
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni...	OMIM:304120
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Proximal placement of thumb, Highly arched eyebrow, 2-3 toe syndactyly, Hypertrophic cardiomyopat...	OMIM:619121
Mandibuloacral Dysplasia With Type B Lipodystrophy	Brittle hair, Death in early adulthood, Short clavicles, Osteolytic defects of the distal phalang...	OMIM:608612
Spondyloocular Syndrome	Femur fracture, Atrial septal defect, Sensorineural hearing impairment, Low-set ears, Low posteri...	OMIM:605822
Cerebellar-Facial-Dental Syndrome	Slender long bone, Single transverse palmar crease, Low-set ears, Sparse eyebrow, Sparse hair, Mi...	ORPHA:444072
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sensorineural hearing impairment, Neoplasm of the lung, Abnormal fingernail morphology, Sparse ha...	ORPHA:659
Trisomy X	Atrial septal defect, Ventricular septal defect, Clinodactyly of the 5th finger, Hip dysplasia	ORPHA:3375
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Microtia, Low-set...	OMIM:236670
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Widely spaced toes, T...	ORPHA:404443
Tatton-Brown-Rahman Syndrome	Optic nerve hypoplasia, Tricuspid regurgitation, Horizontal eyebrow, Thick eyebrow, Umbilical her...	OMIM:615879
Galloway-Mowat Syndrome	Aqueductal stenosis, Camptodactyly of finger, Macrotia, Hypoplasia of the ear cartilage, Adducted...	ORPHA:2065
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Optic nerve hypoplasia, Camptodactyly, Frontal bossing, Depressed n...	OMIM:620029
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Single transverse palmar crease, Hypopigmentation of the skin, Cafe-au-...	OMIM:618541
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia, Flexion contracture	OMIM:614833
Fanconi Anemia, Complementation Group A	Microphthalmia, Absent radius, Cafe-au-lait spot, Abnormality of skin pigmentation, Hearing impai...	OMIM:227650
Charcot-Marie-Tooth Disease, Type 4C	Pes cavus, Hammertoe, Talipes equinovarus	OMIM:601596
Mitochondrial Myopathy And Sideroblastic Anemia	Microcephaly, Short nose	ORPHA:2598
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Semilobar holoprosencephaly, Hitchhiker thumb, Sensorineural hearing impairment, Microtia, Low-se...	OMIM:618500
Lenz-Majewski Hyperostotic Dwarfism	Abnormal metaphysis morphology, Cranial hyperostosis, Epispadias, Abnormal metacarpal morphology,...	ORPHA:2658
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Hypoplasia of the corpus callosum, Rocker bottom foot, Short nose, Abnormal cortical gyration, Pr...	OMIM:617527
Opsismodysplasia	Short nose, Rhizomelia, Renal phosphate wasting, Metaphyseal cupping, Hypoplastic pubic bone, Ant...	OMIM:258480
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Parietal foramina, Hypoplastic iliac wing...	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 phalanx of the 5th toe, Pulmonary artery atresia, Sparse scalp hair, Long eyelashes, Hearin...	OMIM:614609
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Turricephaly, Palmoplantar cutis gyrata, Hydrocephalus, Cloverleaf skull, Anteverted nares, Choan...	ORPHA:1555
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Scarring, Pulmonary artery aneurysm, Arterial tortuosity, Inguin...	OMIM:614437
Nasu-Hakola Disease	Hydrocephalus, Cerebral calcification, Cerebral cortical atrophy, Abnormal epiphysis morphology, ...	ORPHA:2770
Kapur-Toriello Syndrome	Microphthalmia, Low-set ears, Atresia of the external auditory canal, Posteriorly rotated ears, T...	ORPHA:2328
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Inguinal hernia, Umbilical hernia	OMIM:618651
Developmental And Epileptic Encephalopathy 89	Cerebral atrophy, Hypoplasia of the corpus callosum, Death in childhood, Anteverted nares, Neonat...	OMIM:619124
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, Talipes equinovarus, Hyperextensibility of the finger joints, Single transverse pa...	OMIM:309583
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Patent foramen ovale, Short long bone, Short palm, Brachydactyly, Arrhythmia, Atria...	OMIM:619184
Intellectual Developmental Disorder, Autosomal Dominant 70	Hypoplasia of the corpus callosum, Low hanging columella, Hydrocephalus, Optic nerve hypoplasia, ...	OMIM:620157
Chime Syndrome	Pulmonary valve atresia, Transposition of the great arteries, Aplasia/Hypoplasia of the phalanges...	ORPHA:3474
L1 Syndrome	Hydrocephalus, Aqueductal stenosis, Adducted thumb	ORPHA:275543
Dubowitz Syndrome	Clinodactyly of the 5th finger, Hypospadias, Spina bifida occulta, Delayed eruption of teeth, Hyd...	ORPHA:235
Incontinentia Pigmenti	Nail dysplasia, Breast hypoplasia, Nail dystrophy, Microphthalmia, Ridged nail, Breast aplasia, O...	OMIM:308300
Micro Syndrome	Short nose, Hypoplasia of penis, Cerebellar vermis hypoplasia, Anteverted nares, Retinal coloboma...	ORPHA:2510
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Talipes equinovarus, Palmoplantar cutis gyrata, Dislocated radial head, Flared metaphysis, Genu r...	OMIM:130070
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Limb undergrowth, Depressed nasal ridge, Communicating hydrocephalus	ORPHA:1861
Premature Aging Syndrome, Penttinen Type	Convex nasal ridge, Short nose, Delayed eruption of teeth, Slender long bone, Tibial bowing, Oste...	OMIM:601812
Orofaciodigital Syndrome X	Fibular aplasia, Finger aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Depresse...	OMIM:165590
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Recurrent lower respiratory tract infections, Hirsutism, Limb undergrowth, Buphthalmos, Atrial se...	OMIM:618005
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Nail dysplasia, Premature graying of hair, Nail dystrophy, Genu valgum, Retinal telangiectasia, M...	OMIM:612199
Kleefstra Syndrome Due To 9Q34 Microdeletion	Brachycephaly, Short nose, Hypoplasia of penis, Anteverted nares, Subcortical cerebral atrophy, V...	ORPHA:96147
Fanconi Anemia, Complementation Group C	Microphthalmia, Hyperpigmentation of the skin, Hypergonadotropic hypogonadism, Hearing impairment...	OMIM:227645
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Atrial septal defect, Microtia, Left-to-right shunt, Left ventricular hypertrophy	OMIM:620510
Costello Syndrome	Limited elbow movement, Pulmonic stenosis, Sparse hair, Mitral valve prolapse, Concave nail, Deep...	OMIM:218040
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb...	ORPHA:3186
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Clinodactyly of the 5th finger, Tapered distal phalanges of finger, Co...	OMIM:620545
Pontocerebellar Hypoplasia, Type 7	Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Progressive microcephaly, Sin...	OMIM:614969
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Inguinal hernia, Aortic root aneurysm, Omphalocele, Umbilical he...	ORPHA:2745
Congenital Disorder Of Glycosylation, Type 2V	Periventricular leukomalacia, Low hanging columella, Underdeveloped nasal alae, Bulbous nose, Wid...	OMIM:619493
Myopathy, Centronuclear, 2	Pes cavus, Scapular winging, Talipes equinovarus	OMIM:255200
C Syndrome	Bilateral single transverse palmar creases, Short nose, Talipes, Clinodactyly of the 5th finger, ...	ORPHA:1308
Mosaic Variegated Aneuploidy Syndrome	Abnormal lung lobation, Microphthalmia, Clinodactyly of the 5th finger, Low-set, posteriorly rota...	ORPHA:1052
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Nail dystrophy, Brittle hair, Protruding ear, Atrial septal defect, Dry hair, Cupped ear	ORPHA:93947
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Clinodactyly of the 5th finger, Broad eyebrow, Small nail, Sensorineural hearing ...	OMIM:616975
Microphthalmia, Syndromic 3	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Patent ductus arteriosus	OMIM:206900
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Death in infancy, Broad thumb, Umbilical hernia, Hypos...	ORPHA:373
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Pulmonic stenosis, Atrial septal defect, Absent thumb	OMIM:619239
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Prominent fingertip pads, Curly hair, Arachnodactyly, Mitral valve prolapse, Atrial septal defect	OMIM:300986
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Talipes equinovarus	OMIM:209770
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Chronic otitis media, Thickened ears, Protruding ear, Prominent protruding coccyx, Toenail dyspla...	OMIM:300966
Senior-Loken Syndrome 8	Polydactyly, Global glomerulosclerosis, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:616307
Congenital Disorder Of Glycosylation, Type Ih	Talipes equinovarus, Neonatal death, Camptodactyly, Death in infancy	OMIM:608104
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Vesicoureteral reflux, Urogenital sinus anomaly, Abnormality of...	ORPHA:2970
Congenital Tracheomalacia	Partial anomalous pulmonary venous return, Right aortic arch, Double aortic arch, Tetralogy of Fa...	ORPHA:95430
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Talipes equinovarus, Absent Achilles reflex, Plantar flexion contracture	OMIM:620011
Fanconi Anemia, Complementation Group D2	Microphthalmia, Hydrocephalus, Low-set ears, Cafe-au-lait spot, Abnormality of skin pigmentation,...	OMIM:227646
Microcephaly 30, Primary, Autosomal Recessive	Cafe-au-lait spot, Uplifted earlobe, Secundum atrial septal defect, Clinodactyly of the 5th finger	OMIM:620183
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Hypospadias	ORPHA:544254
Atelis Syndrome 2	Short palpebral fissure, Microphthalmia, Single transverse palmar crease, Low-set ears, Epicanthu...	OMIM:620185
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale	OMIM:611363
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Molybdenum Cofactor Deficiency, Complementation Group B	Cerebral atrophy, Hypoplasia of the corpus callosum, Short nose, Thin corpus callosum, Xanthinuri...	OMIM:252160
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Hypomandibular Faciocranial Dysostosis	Brachycephaly, Short nose, Anteverted nares, Death in infancy, Trigonocephaly, Choanal stenosis, ...	ORPHA:1790
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Abnormality of the nail, Finger syndactyly, Split hand, Generalized hirsutis...	ORPHA:1300
Otodental Dysplasia	Anteverted nares, Coloboma, Delayed eruption of teeth	OMIM:166750
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microphthalmia, Reduced systolic function	OMIM:618805
Giant Axonal Neuropathy 1, Autosomal Recessive	Pes cavus, Areflexia of lower limbs, Lateral ventricle dilatation, Hyporeflexia of lower limbs, P...	OMIM:256850
Bloom Syndrome	Clinodactyly of the 5th finger, Hypopigmentation of the skin, Bronchiectasis, Cafe-au-lait spot, ...	OMIM:210900
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Semilobar holoprosencephaly, Partial anomalous pulmonary venous return, Highly arched eyebrow, Hi...	OMIM:301044
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Microtia, Foot polydactyly, 2-4 toe syndactyly, Telangiectasia of the skin	ORPHA:276280
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Low-set ears, Short palm, Posteriorly rotated ears, Short foot, Small hand	OMIM:241410
Prader-Willi Syndrome Due To Translocation	Short nose, Underdeveloped nasolabial fold, Clinodactyly of the 5th finger, Narrow nasal bridge, ...	ORPHA:177907
7Q31 Microdeletion Syndrome	Childhood onset sensorineural hearing impairment, Clinodactyly of the 2nd finger, Recurrent respi...	ORPHA:251061
Kaufman Oculocerebrofacial Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, Abnormal pinna morphology, Low-s...	OMIM:244450
Sifrim-Hitz-Weiss Syndrome	Short clavicles, Flat acetabular roof, Low-set ears, Hearing impairment, Tetralogy of Fallot, Sho...	OMIM:617159
Gorlin Syndrome	Brachycephaly, Palmar pits, Hydrocephalus, Cerebral calcification, Calcification of falx cerebri,...	ORPHA:377
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Hypoplasia of the corpus callosum, Bilateral camptodactyly, Microcephaly, Long hallux, Umbilical ...	OMIM:619234
Hurler Syndrome	Abnormal diaphysis morphology, Hydrocephalus, Anteverted nares, Abnormal epiphysis morphology, De...	ORPHA:93473
Mirage Syndrome	Rocker bottom foot, Radial club hand, Hypospadias, Hydrocephalus, Petechiae, Microphallus, Overla...	OMIM:617053
Bruck Syndrome 1	Ankle flexion contracture, Elbow flexion contracture, Coxa vara, Protrusio acetabuli, Hip contrac...	OMIM:259450
Bent Bone Dysplasia Syndrome 2	Ulnar bowing, Bowed humerus, Hypoplastic acetabulae, Hypoplastic iliac wing, Femoral bowing, Decr...	OMIM:620076
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Scarring alopecia of scalp, Sparse scalp hair, Portal hypertension, Sparse eyelashes, Sparse body...	ORPHA:59303
Frontometaphyseal Dysplasia 2	Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphology, Short metaca...	OMIM:617137
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Tarsal synostosis, Absent phalangeal crease	OMIM:618469
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cerebral atrophy, Hydrocephalus, Cranial asymmetry, Microcephaly, Prominent nose, Wide nasal brid...	OMIM:614886
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Nail dystrophy, Sparse hair, Palmoplantar hyperkeratosis, Alopecia	OMIM:242300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Calf muscle hypertrophy, Peroneal muscle weakness, Scapular muscle atrophy, Talipes equinovarus	OMIM:611588
Laryngeal Abductor Paralysis	Microcephaly, Talipes equinovarus	OMIM:150260
Auriculocondylar Syndrome 2B	Question mark ear, Darwin tubercle of helix, Sparse hair, Synophrys	OMIM:620458
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
1P36 Deletion Syndrome	Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Abnormal cardiac septum morpho...	ORPHA:1606
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hyperintensity of cerebral white matter on MRI, Diaphyseal sclerosis, Hydrocephalus, Cerebral cal...	OMIM:618476
Cocaine Intoxication	Mydriasis, Ischemic stroke, Acute kidney injury, Prolonged QT interval, Hematuria, Supraventricul...	ORPHA:90068
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Unilateral microphthalmos	OMIM:615085
Hypotrichosis 12	Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin...	OMIM:615885
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Genu valgum, Limb undergrowth	OMIM:619142
Neonatal Marfan Syndrome	Iridodonesis, Increased arm span, Megalocornea, Tricuspid regurgitation, Arachnodactyly, Ectopia ...	ORPHA:284979
Koolen-De Vries Syndrome	Bicuspid aortic valve, Hypopigmentation of hair, Abnormal cardiac septum morphology, Abnormality ...	ORPHA:96169
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebral atrophy, Decreased CSF copper concentration, Glandular hypospadias, Increased CSF lactat...	OMIM:620306
Congenital Disorder Of Glycosylation, Type Iie	Cerebral atrophy, Hypoplasia of the corpus callosum, Short nose, Excessive wrinkled skin, Wide no...	OMIM:608779
Multiple Sulfatase Deficiency	Hydrocephalus, Anteverted nares, Broad thumb, Mucopolysacchariduria, Microcephaly, Broad hallux p...	ORPHA:585
Brain Malformations With Or Without Urinary Tract Defects	Hypoplasia of the corpus callosum, Short nose, Anteverted nares, Vesicoureteral reflux, Renal hyp...	OMIM:613735
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Pulmon...	OMIM:261540
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Telecanthus, Sparse lateral eyebrow, Ptosis, Downslanted palpebral fissures	ORPHA:314655
Coffin-Siris Syndrome	Small nail, Hypoplastic fifth toenail, Hirsutism, Ventricular septal defect, Sparse scalp hair, A...	ORPHA:1465
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Finger synda...	ORPHA:958
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Congenital diaphragmatic hernia, Inguinal hernia	OMIM:614294
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Brachycephaly, Aqueductal stenosis, Plagiocephaly, Thin corpus callosum, Clinodactyly of the 5th ...	OMIM:619512
Dermotrichic Syndrome	Frontal bossing, Short nose, Aminoaciduria, Depressed nasal bridge	ORPHA:99688
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Craniofrontonasal Syndrome	Breast hypoplasia, Axillary pterygium, Clinodactyly of the 5th finger, Ridged nail, Telecanthus, ...	OMIM:304110
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Highly arched eyebrow, Finger syndactyly, Abnormal helix morpholo...	ORPHA:1519
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Bulbous nose, Wide nasal bridge, Globus pallidus calcification	OMIM:620292
Smith-Lemli-Opitz Syndrome	Renal hypoplasia/aplasia, Proximal placement of thumb, Hypoplasia of penis, Mesomelia, Hip disloc...	ORPHA:818
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Atrial septal defect, Recurrent lower respiratory tract infections	OMIM:617744
3Mc Syndrome 1	Caudal appendage, Clinodactyly of the 5th finger, Spina bifida occulta, Single interphalangeal cr...	OMIM:257920
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Genu valgum, Diaphyseal sclero...	OMIM:259710
Hajdu-Cheney Syndrome	Skin ulcer, Hypospadias, Partial absence of toe, Prominent occiput, Hydrocephalus, Wide nose, Ant...	ORPHA:955
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Calcification of falx cerebri, Short long bone, S...	OMIM:271665
Megalencephaly	Atrial septal defect, Genu valgum	ORPHA:2477
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe...	ORPHA:1112
Larsen Syndrome	Broad distal phalanx of finger, Finger syndactyly, Broad thumb, Conductive hearing impairment, Sh...	ORPHA:503
Larsen Syndrome	Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Spina bifida occulta, T...	OMIM:150250
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Short nose, 3-Methylglutaconic aciduria, Optic nerve hypoplasia, Hip dysplasia, Positional foot d...	ORPHA:496790
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Genu valgum, Hydrocephalus, Large iliac wing, Dermatan sulfate excr...	OMIM:253220
Fetal Hydantoin Syndrome	Short nose, Triphalangeal thumb, Depressed nasal ridge, Microcephaly, Short distal phalanx of finger	ORPHA:1912
Hallermann-Streiff Syndrome	Congestive heart failure, Microphthalmia, Clinodactyly of the 5th finger, Abnormality of hair tex...	ORPHA:2108
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Sensorineural hearing impairment, Cardiomyopathy, Arrhythmia, Atrial sept...	OMIM:249270
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Microlissencephaly-Micromelia Syndrome	Secondary microcephaly, Bilateral single transverse palmar creases, Adducted thumb, Short nose, M...	ORPHA:50810
Carney Complex, Type 1	Congestive heart failure, Multiple lentigines, Red hair, Hirsutism, Cardiac myxoma, Profuse pigme...	OMIM:160980
Ring Chromosome 7 Syndrome	Brachycephaly, Plagiocephaly, Short nose, Genu valgum, Clinodactyly of the 5th finger, Hypospadia...	ORPHA:1449
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Abnormal pinna morphology, Absent tragus, Lacrimal duct atresia, Synophrys, Atres...	OMIM:603457
Andersen Cardiodysrhythmic Periodic Paralysis	Clinodactyly of the 5th toe, Short palpebral fissure, Clinodactyly of the 5th finger, Short metat...	OMIM:170390
Vitreoretinochoroidopathy	Retinal arteriolar occlusion, Microphthalmia, Retinal arteriolar constriction	OMIM:193220
Mend Syndrome	Polydactyly, Redundant neck skin, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, L...	OMIM:300960
Autosomal Recessive Centronuclear Myopathy	Pes cavus, Scapular winging, Long fingers, Hip contracture, Talipes equinovarus	ORPHA:169186
Carey-Fineman-Ziter Syndrome 1	Plagiocephaly, Pectoralis hypoplasia, Anteverted nares, Microcephaly, Broad nasal tip, Depressed ...	OMIM:254940
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortic root aneurysm, Optic nerve hypoplasia, Aortopulmonary window, Aplasia of the left hemidiap...	OMIM:620025
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia...	OMIM:174000
Ataxia-Telangiectasia-Like Disorder 2	Congenital diaphragmatic hernia, Joint contracture	OMIM:615919
Alg9-Cdg	Narrow greater sciatic notch, Short long bone, Low posterior hairline, Abnormal heart morphology,...	ORPHA:79328
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Hermansky-Pudlak Syndrome 11	Iris transillumination defect, Epistaxis, Hypoplasia of the fovea, Melanocytic nevus, Albinism, F...	OMIM:619172
Monosomy 9Q22.3	Polydactyly, Short nose, Palmar pits, Delayed eruption of teeth, Hydrocephalus, Calcification of ...	ORPHA:77301
Aicardi-Goutières Syndrome	Developmental glaucoma, Hypertrophic cardiomyopathy, Ptosis, Raynaud phenomenon, Eyelid coloboma,...	ORPHA:51
Right Atrial Isomerism	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia...	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	Plagiocephaly, Short nose, Cavum septum pellucidum, Abnormal corpus callosum morphology, Congenit...	ORPHA:457279
Digeorge Syndrome	Short palpebral fissure, Unilateral renal agenesis, Posterior embryotoxon, Hydronephrosis, Sclero...	OMIM:188400
Alexander Disease Type I	Hydrocephalus, Abnormal cerebral white matter morphology, Rosenthal fibers, Focal T2 hyperintense...	ORPHA:363717
White-Sutton Syndrome	Congenital diaphragmatic hernia, Ventral hernia, Inguinal hernia, Facial hypotonia	ORPHA:468678
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Highly arched eyebrow, Sensorineural hearing impairment, Prominent fingertip pads...	OMIM:612474
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hypoplasia of the corpus callosum, Lambdoidal craniosynostosis, Branchial anomaly, Optic nerve hy...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hypoplasia of the corpus callosum, Lambdoidal craniosynostosis, Branchial anomaly, Optic nerve hy...	ORPHA:453504
Mucopolysaccharidosis, Type Ii	Pes cavus, Delayed eruption of teeth, Hydrocephalus, Split hand, Dermatan sulfate excretion in ur...	OMIM:309900
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias, Absent radius	OMIM:312190
Joubert Syndrome 3	Highly arched eyebrow, Atrial septal defect, Low-set ears, Pigmentary retinopathy	OMIM:608629
Rabson-Mendenhall Syndrome	Premature graying of hair, Polydactyly, Thick hair, Hirsutism, Cardiomyopathy, Macrotia, Low ante...	ORPHA:769
Schimke Immunoosseous Dysplasia	Lateral displacement of the femoral head, Focal segmental glomerulosclerosis, Nephrotic syndrome,...	OMIM:242900
Poland Syndrome	Aplasia of the pectoralis major muscle, Low posterior hairline, Cone-shaped epiphysis, Finger sym...	ORPHA:2911
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia	ORPHA:261197
Cranioectodermal Dysplasia 2	Polydactyly, Rhizomelia, Patent foramen ovale, Hypertension, Postaxial hand polydactyly, Low-set ...	OMIM:613610
Kagami-Ogata Syndrome	Frontal hirsutism, Microtia, Large placenta, Coxa valga	ORPHA:254519
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Postaxial polydactyly, Ventriculomegaly, Renal insufficiency, Renal corticomedulla...	OMIM:219730
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Broad palm, Abnormality of the ear, Pigmentary retinopathy, Sparse hair	OMIM:268020
Grange Syndrome	Renal artery stenosis, Renovascular hypertension, Syndactyly, Brachydactyly, Finger clinodactyly	OMIM:602531
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Upslanted palpebral fissure, Internally rotated shoulders, Medial flaring of the eyebrow, Pelvic ...	OMIM:619503
Mucopolysaccharidosis, Type Vi	Metaphyseal irregularity, Cervical myelopathy, Genu valgum, Delayed eruption of teeth, Hydrocepha...	OMIM:253200
Noonan Syndrome	Atrial septal defect, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Abnormal...	ORPHA:648
Bickerstaff Brainstem Encephalitis	Mydriasis, Ptosis, Anisocoria	ORPHA:79138
B4Galt1-Cdg	Redundant neck skin, Hydrocephalus, Dandy-Walker malformation, Cerebellar hypoplasia, Wide nasal ...	ORPHA:79332
Autosomal Dominant Robinow Syndrome	Coxa valga, Hip dislocation, Micromelia, Hearing impairment, Short palm, Downslanted palpebral fi...	ORPHA:3107
Trichothiodystrophy	Numerous pigmented freckles, Alopecia of scalp, Dystrophic fingernails, Protruding ear, Bilateral...	ORPHA:33364
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Optic disc hypoplasia, Epiphyseal stippling of toe phalanges, Epiphysea...	ORPHA:79345
Codas Syndrome	Genu valgum, Atrioventricular canal defect, Proximal placement of thumb, Sensorineural hearing im...	OMIM:600373
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Mixed hearing impairment, Highly arched eyebrow, Sensorineural hearing impairment, Abnormal heart...	ORPHA:444077
Pagod Syndrome	Congenital diaphragmatic hernia, Abnormal aortic morphology, Omphalocele, Pulmonary artery hypopl...	ORPHA:991
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Pes cavus, Intrinsic hand muscle atrophy, Talipes equinovarus, Knee flexion contracture	OMIM:615490
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Atelosteogenesis Type I	Abnormal fibula morphology, Rhizomelia, Short long bone, Limb undergrowth, Multiple renal cysts, ...	ORPHA:1190
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Overriding aorta, Arteriovenous malformation, Abnormal aortic arch morphology	ORPHA:1110
Melanosis, Neurocutaneous	Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma, Death in infancy	OMIM:249400
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal thumb morphology, Short nose, Dandy-Walker malformation, Anteverted nares, Ureteral sten...	ORPHA:2719
Multiple System Atrophy 1, Susceptibility To	Urinary incontinence, Orthostatic hypotension, Iris atrophy, Urinary urgency, Ptosis	OMIM:146500
Hypotrichosis 13	Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology	OMIM:615896
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Long foot, Enlarged kidney, Spina bifida occulta, Tibial bowing, Abnor...	ORPHA:500095
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microphthalmia, Radial dysplasia, Absent thumb	OMIM:617244
Agnathia-Otocephaly Complex	Situs inversus totalis, Synotia, Low-set ears, Conductive hearing impairment, Secundum atrial sep...	OMIM:202650
Superficial Siderosis	Functional abnormality of the bladder, Subarachnoid hemorrhage, Internal hemorrhage, Anisocoria	ORPHA:247245
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small nail, Sensorineural hearing impairment, Death in adolescence, Death in infancy, Heart murmu...	OMIM:614866
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Hypoplasia of penis, Anteverted nares, Depressed nasal ridge, Dea...	ORPHA:847
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Brittle hair, Uncombable hair, Woolly hair, Sparse hair	OMIM:614602
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b...	OMIM:211350
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ...	OMIM:610921
Down Syndrome	Bilateral single transverse palmar creases, Atrioventricular canal defect, Clinodactyly of the 5t...	ORPHA:870
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Thick hair, Cone-shaped epiphyses of the phalanges of the hand, Finger synda...	ORPHA:2751
Khan-Khan-Katsanis Syndrome	Short nose, Ureteral duplication, Cerebellar vermis hypoplasia, Vesicoureteral reflux, Renal cyst...	OMIM:618460
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Optic nerve hypoplasia, Microtia, Hirsutism, Synophrys, Hearing impairment, Secundum atrial septa...	OMIM:620455
Galloway-Mowat Syndrome 3	Microphthalmia, Low-set ears, Camptodactyly, Arachnodactyly, Downslanted palpebral fissures, Epic...	OMIM:617729
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Low-set ears, Death in infancy, Hearing impairment, Right ventricular hyper...	OMIM:208085
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Cervical myelopathy, Limitation of knee mobility, Delayed pubic bone ossi...	OMIM:183900
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Short nose, Abnormal epiphysis morphology	ORPHA:90653
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio...	OMIM:620135
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Anophthalmia, Sensorineural hearing impairment, Pulmonary...	OMIM:615636
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Cerebral calcification, Dandy-Walker malformation, Cerebellar...	OMIM:304340
Basal Cell Nevus Syndrome 2	Palmar pits, Hydrocephalus, Calcification of falx cerebri, Frontal bossing, Plantar pits	OMIM:620343
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Low-set ears, Pulmonic stenosis, Umbilical hernia, Atri...	OMIM:618205
Musculocontractural Ehlers-Danlos Syndrome	Short nose, Horseshoe kidney, Craniosynostosis, Redundant skin, Nephrolithiasis, Slender finger, ...	ORPHA:2953
Macs Syndrome	Single transverse palmar crease, Umbilical hernia, Sparse eyebrow, Brachydactyly, Sparse hair, Br...	OMIM:613075
Prune Belly Syndrome	Hydroureter, Congenital hip dislocation, Hydronephrosis, Congenital posterior urethral valve, Tal...	OMIM:100100
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Sparse scalp hair, Severe sensorineural hearing impairment, Hip dislocation	ORPHA:2003
Mowat-Wilson Syndrome	Abnormality of the kidney, Microphthalmia, Hypospadias, Broad eyebrow, Microcornea, Pulmonic sten...	OMIM:235730
Marshall Syndrome	Brachycephaly, Short nose, Genu valgum, Cerebral calcification, Anteverted nares, Frontal bossing...	ORPHA:560
Bruck Syndrome 2	Femoral bowing, Elbow flexion contracture, Hydroxyprolinuria, Knee flexion contracture, Talipes e...	OMIM:609220
Optic Atrophy 11	Optic nerve hypoplasia, Bilateral talipes equinovarus, Microcephaly, Cerebellar hypoplasia, Ventr...	OMIM:617302
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71526
Arboleda-Tham Syndrome	Chronic otitis media, Sandal gap, Highly arched eyebrow, Small earlobe, Underdeveloped tragus, Pu...	OMIM:616268
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Generalized hypopigmentation, Multiple cafe-au-lait spots, Ptosis, Abnormality...	ORPHA:1969
Auriculocondylar Syndrome	Aplasia/Hypoplasia of the external ear, Low-set, posteriorly rotated ears, Abnormal pinna morphol...	ORPHA:137888
Aortic Aneurysm, Familial Thoracic 10	Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,...	OMIM:617168
Obesity And Hypopigmentation	Red hair	OMIM:620195
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Gabriele-De Vries Syndrome	Sandal gap, Hallux valgus, Patent foramen ovale, Low-set ears, Sparse eyebrow, Long fingers, Post...	OMIM:617557
Mucopolysaccharidosis Type 1	Abnormal metaphysis morphology, Abnormal hip bone morphology, Hydrocephalus, Split hand, Thick na...	ORPHA:579
Pontocerebellar Hypoplasia, Type 2E	Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Short nose, Wide nos...	OMIM:615851
Melnick-Needles Syndrome	Limited elbow extension, Stillbirth, Genu valgum, Osteolytic defects of the phalanges of the hand...	OMIM:309350
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short finger, Clinodactyly of the 5th finger, Abnormality of the palmar creases, Single transvers...	OMIM:619522
Robinow Syndrome	Nail dysplasia, Mixed hearing impairment, Mesomelic arm shortening, Small nail, Pulmonic stenosis...	ORPHA:97360
Orofaciodigital Syndrome V	Sandal gap, Postaxial hand polydactyly, Postaxial polydactyly, Downslanted palpebral fissures, Un...	OMIM:174300
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebral atrophy, Hypoplasia of the corpus callosum, Long nose, Short nose, Slender long bone, Hy...	OMIM:618590
Developmental And Epileptic Encephalopathy 18	Highly arched eyebrow, Atrial septal defect, Aortic regurgitation	OMIM:615476
Chromosome 14Q11-Q22 Deletion Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Hip subluxation, Thin corpus callosum, Short no...	OMIM:613457
Ctcf-Related Neurodevelopmental Disorder	Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sandal gap, Joint contracture ...	ORPHA:363611
Warburg Micro Syndrome 4	Ptosis, Microphthalmia, Hirsutism, Low anterior hairline	OMIM:615663
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Turricephaly, Crumpled long bones, Delayed eruption of teeth, Bow...	ORPHA:2050
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Single transverse palmar crease, Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
Intellectual Developmental Disorder, X-Linked 98	Secondary microcephaly, Long nose, Short nose, Urinary incontinence, Clinodactyly of the 5th fing...	OMIM:300912
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Mckusick-Kaufman Syndrome	Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Glandular hypospadias, Post...	ORPHA:2473
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
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	Rocker bottom foot, Stillbirth, Short umbilical cord, Small placenta, Talipes equinovarus, Cavum ...	OMIM:208150
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Hypoplasia of the ...	ORPHA:79431
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Broad distal phalanx...	ORPHA:2636
Macrocephaly/Autism Syndrome	Short nose, Biparietal narrowing, Cutis laxa, Frontal bossing, Penile freckling, Depressed nasal ...	OMIM:605309
Dyskeratosis Congenita	Premature graying of hair, Hypopigmented skin patches, Hypermelanotic macule, Nail dystrophy, Apl...	ORPHA:1775
1Q44 Microdeletion Syndrome	Hydrocephalus, Vesicoureteral reflux, Biparietal narrowing, Microcephaly, Frontal bossing, Agenes...	ORPHA:238769
Floating-Harbor Syndrome	Mesocardia, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Generaliz...	OMIM:136140
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Cerebe...	OMIM:263520
Scarf Syndrome	Low-set, posteriorly rotated ears, Hypoplastic nipples, Low posterior hairline, Short sternum, Sp...	ORPHA:3134
Congenital Myopathy 11	Atrial septal defect, Patent foramen ovale	OMIM:619967
Monosomy 22	Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Finger syndactyly, Single tran...	ORPHA:96123
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Ischemic stroke, Unilateral renal agenesis, Slender long bone, Broad lateral eyebr...	ORPHA:500150
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Chilton-Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Sensorineural hearing impairment, Septo-optic dysplasia, Epistaxis, Sparse...	OMIM:619841
Trichohepatoneurodevelopmental Syndrome	Cerebral atrophy, Brachycephaly, Plagiocephaly, Thin corpus callosum, Fibular bowing, Clinodactyl...	OMIM:618268
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Cerebral atrophy, Hypoplasia of the corpus callosum, Brachycephaly, Short nose, Hypospadias, Cran...	OMIM:309590
Fanconi Anemia, Complementation Group B	Hypoplasia of the corpus callosum, Hydrocephalus, Death in infancy, Bilateral radial aplasia, Abs...	OMIM:300514
Hereditary Acrokeratotic Poikiloderma	Abnormal renal tubule morphology, Ectropion, Abnormal preputium morphology, Abnormal hip bone mor...	ORPHA:2907
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Low-set ears, Broad thumb, Arachnodactyly, Atrial septal...	OMIM:309520
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Highly arched eyebrow, Congestive heart failure, Atrial septal defect	ORPHA:500533
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, 2-4 toe syndactyly, Syndact...	OMIM:150230
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran...	ORPHA:1880
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Absent eyebrow, Sparse e...	OMIM:614941
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Recurrent respiratory infections, Elevated bronchoalveolar lavage fluid lymphocyte p...	OMIM:610978
Cutis Laxa, Autosomal Recessive, Type Ic	Vascular dilatation, Inguinal hernia, Morgagni diaphragmatic hernia, Right ventricular hypertroph...	OMIM:613177
Hypoplastic Left Heart Syndrome	Hypoplastic aortic arch, Patent ductus arteriosus	ORPHA:2248
Pituitary Apoplexy	Mydriasis, Hypertension, Ptosis, Hypotension	ORPHA:95613
Scarf Syndrome	Hypoplastic nipples, Low-set ears, Low posterior hairline, Short sternum, Low anterior hairline, ...	OMIM:312830
Lateral Meningocele Syndrome	Meningocele, Sensorineural hearing impairment, Low-set ears, Abnormality of the middle ear ossicl...	ORPHA:2789
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614432
Coffin-Lowry Syndrome	Short nose, Wide nose, Bifid sternum, Hyperextensibility of the finger joints, Single transverse ...	OMIM:303600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Patent ductus arteriosus	OMIM:614080
Transaldolase Deficiency	Patent foramen ovale, Low-set ears, Synophrys, Atrial septal defect, Ventricular septal defect, T...	OMIM:606003
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Short nose, Redundant neck skin, Cubitus valgus, Short metatarsal, Anteverted nare...	OMIM:617157
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Microphthalmia, Transposition of the great arteries, Encephalocele, Hydroce...	OMIM:253800
Sabinas Brittle Hair Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair	OMIM:211390
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Recurrent otitis media, Transposition of the great arteries, Recurrent lo...	OMIM:620570
Peters Plus Syndrome	Clinodactyly of the 5th finger, Rhizomelia, Low-set, posteriorly rotated ears, Spina bifida occul...	ORPHA:709
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Buphthalmos, Microphthalmia, Muscular dystrophy	OMIM:616538
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Low hanging columella, Dislocated radial head, Dandy-Walker malf...	OMIM:619297
Mandibuloacral Dysplasia Progeroid Syndrome	Nail dystrophy, Genu valgum, Deep palmar crease, Osteolytic defects of the phalanges of the hand,...	OMIM:619127
Crouzon Syndrome	Brachycephaly, Deviated nasal septum, Lambdoidal craniosynostosis, Hydrocephalus, Coronal cranios...	OMIM:123500
Cog1-Cdg	Rhizomelia, Low-set, posteriorly rotated ears, Microtia, Short long bone, Flat acetabular roof, A...	ORPHA:263508
Cutis Laxa, Autosomal Recessive, Type Iiib	Prominent ear helix, Elbow flexion contracture, Posteriorly rotated ears, Sparse hair, Fine hair,...	OMIM:614438
Loeys-Dietz Syndrome 5	Brachycephaly, Increased arm span, Flexion contracture of toe, Bilateral coxa valga, Scapular win...	OMIM:615582
9q subtelomeric deletion syndrome	Microcephaly, Short nose, Anteverted nares	DECIPHER:52
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Clubbing, Pulmonary arterial hypertension, Death in infa...	OMIM:265120
Tetrasomy 12P	Frontal bossing, Short nose, Anteverted nares, Delayed eruption of teeth	ORPHA:884
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Interrupted aortic arch, Pu...	ORPHA:2255
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Talipes equinovarus	OMIM:151800
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Bladder diverticulum, Pes planus, Hallux valgus, Talipes...	OMIM:617821
Rothmund-Thomson Syndrome Type 1	Nail dysplasia, Abnormal ulnar metaphysis morphology, Finger symphalangism, Sparse or absent eyel...	ORPHA:221008
15Q11.2 Microdeletion Syndrome	Abnormal pinna morphology, Total anomalous pulmonary venous return, Abnormal heart morphology, Te...	ORPHA:261183
Olmsted Syndrome 2	Woolly hair, Sparse hair, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Alopecia univers...	OMIM:619208
Prader-Willi Syndrome	Acromicria, Genu valgum, Radial deviation of finger, Generalized hypopigmentation, Infertility, S...	OMIM:176270
Myopathy, Myofibrillar, 7	Pes cavus, Urinary incontinence, Shoulder flexion contracture, Enuresis nocturna, Elbow flexion c...	OMIM:617114
Mast Cell Sarcoma	Hypoplasia of the ear cartilage	ORPHA:66661
Congenital Myopathy 22B, Severe Fetal	Short nose, Talipes, Tapered toe, Slender long bone, Shoulder flexion contracture, Elbow flexion ...	OMIM:620369
Rett Syndrome, Congenital Variant	Hypoplasia of the corpus callosum, Progressive microcephaly, Depressed nasal bridge, Simplified g...	OMIM:613454
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sensorineural hearing impairment, Fragile nails, Sparse hair, Palmoplantar keratoderma, Alopecia	OMIM:242150
Cole-Carpenter Syndrome 2	Turricephaly, Lambdoidal craniosynostosis, Hydrocephalus, Narrow iliac wing, Coronal craniosynost...	OMIM:616294
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal finger morphology, Coloboma, Cranial asymmetry, Hemimegalencephaly, Hyperphosphaturia, A...	OMIM:163200
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Nail dystrophy, Ridged nail, Budd-Chiari syndrome, Reticular hyperpigm...	OMIM:127550
Wildervanck Syndrome	Congenital sensorineural hearing impairment, Low posterior hairline, Meningocele	ORPHA:3456
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Hip subluxation, Flared metaphysis, Optic disc pallor	OMIM:259720
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent fingertip pads, Hypopigmentation of the skin, Cardiomyopathy, Pulmonic stenosis, Arachn...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent fingertip pads, Hypopigmentation of the skin, Cardiomyopathy, Pulmonic stenosis, Arachn...	ORPHA:363958
Robinow Syndrome, Autosomal Dominant 1	Radial deviation of finger, Dislocated radial head, Short long bone, Broad thumb, Mesomelia, Umbi...	OMIM:180700
Arachnoid Cyst	Mydriasis, Urinary incontinence, Urinary bladder sphincter dysfunction, Ptosis, Subarachnoid hemo...	ORPHA:2356
Interatrial Communication	Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip	OMIM:137550
Diamond-Blackfan Anemia 7	Recurrent otitis media, Triphalangeal thumb, Hearing impairment, Atresia of the external auditory...	OMIM:612562
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Deep palmar crease, Thick hair, Recurrent respiratory infections, Hydro...	ORPHA:505248
Histiocytoid Cardiomyopathy	Pulmonary edema, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Microp...	ORPHA:137675
Cardiomyopathy, Dilated, 2J	Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced...	OMIM:620635
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Corneal crystals, Renal Fanconi ...	ORPHA:411629
Lateral Meningocele Syndrome	Meningocele, Hydrocephalus, Low-set ears, Abnormality of the middle ear ossicles, Conductive hear...	OMIM:130720
Coffin-Siris Syndrome 12	Small nail, Highly arched eyebrow, Sensorineural hearing impairment, Broad thumb, Noncommunicatin...	OMIM:619325
Pterygium Colli, Isolated	Short nose	OMIM:177990
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, Frontal bossing, Cortically dense lo...	OMIM:269500
Ogden Syndrome	Left atrial enlargement, Sandal gap, Premature ventricular contraction, Umbilical hernia, Bicuspi...	OMIM:300855
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Hydrocephalus, Cerebral calcification, Dandy-Walker malformation, Cer...	OMIM:617281
Rothmund-Thomson Syndrome	Nail dysplasia, Palmar hyperkeratosis, Hypoplasia of the ulna, Metaphyseal striations, Small nail...	ORPHA:2909
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent sinusitis, Nail dystrophy, Recurrent otitis media, Sparse hair	ORPHA:98813
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Enlarged kidney, Talipes equinovarus, Femoral bowing, Cystic renal dysplasia	OMIM:615415
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Pulmonary arterial hypertension, Atrial septal defect, Ventricular se...	ORPHA:2519
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Aspiration pneumonia, Sparse hair	OMIM:618253
3-Methylglutaconic Aciduria, Type V	Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Atrial septal defe...	OMIM:610198
Distal Deletion 15Q	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Coarctation of aorta, Double ou...	ORPHA:1596
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Shprintzen-Goldberg Syndrome	Abnormal metaphysis morphology, Genu valgum, Craniosynostosis, Anteverted nares, Bowing of the lo...	ORPHA:2462
Congenital Syphilis	Palmoplantar scaling skin, Large placenta, Purpura, Hydrocephalus, Petechiae, Tibial bowing, CSF ...	ORPHA:499009
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Atrial septal defect, Incomplete partition of the cochlea type II, Sensorineural hearing impairme...	OMIM:617660
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Right aortic arch, Increased axial length of the globe	ORPHA:513456
Hermansky-Pudlak Syndrome 2	Recurrent otitis media, Generalized hypopigmentation, Low-set ears, Recurrent pneumonia, Posterio...	OMIM:608233
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Urinary incontinence, Talipes equinovarus	OMIM:604320
Genitopatellar Syndrome	Thin corpus callosum, Hypoplastic ischia, Microcephaly, Colpocephaly, Patellar dislocation, Short...	OMIM:606170
Vici Syndrome	Atrial septal defect, Congestive heart failure, Hypopigmentation of hair, Recurrent respiratory i...	OMIM:242840
Molybdenum Cofactor Deficiency, Complementation Group A	Cerebral atrophy, Hypoplasia of the corpus callosum, Short nose, Xanthinuria, Decreased urinary s...	OMIM:252150
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Pulmonic stenosis, Sparse hair, Palmoplantar kerato...	OMIM:615508
Intellectual Developmental Disorder, Autosomal Dominant 68	Joint contracture of the 5th finger, 2-3 toe syndactyly, Absent earlobe, Narrow palm, Broad hallu...	OMIM:619934
Hartsfield Syndrome	Semilobar holoprosencephaly, Hypospadias, Wide nose, Alobar holoprosencephaly, Hypoplasia of the ...	OMIM:615465
Prolidase Deficiency	Short nose, Skin ulcer, Petechiae, Hyperimidodipeptiduria, Depressed nasal bridge, Concave nasal ...	OMIM:170100
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Periungual erythema, Nailfold capillary tortuosity, Raynaud phenomenon, Sparse ha...	OMIM:615934
Charcot-Marie-Tooth Disease, Type 4D	Pes cavus, Claw hand deformity, Hammertoe, Talipes cavus equinovarus	OMIM:601455
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Flared metaphysis, Hydrocephalus, Coxa vara, Frontal bossing, Craniosynostosis	OMIM:259700
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Familial Multiple Lipomatosis	Hypoplasia of the corpus callosum, Premature eruption of permanent teeth, Cerebral calcification,...	ORPHA:199276
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Meningocele	ORPHA:588
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Short finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Sensorineural hear...	ORPHA:459070
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Hypoplasia of the corpus callosum, Short nose, Dandy-Walker malformation, Microcephaly, Shortenin...	OMIM:614207
Wiedemann-Steiner Syndrome	Abnormality of the hand, Short nose, Rhizomelia, Clinodactyly of the 5th finger, Dilatation of re...	ORPHA:319182
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Polymicrogyria, Syndactyly, Umbilical hernia, Aminoaciduria, Depressed nasal bridge, Ketonuria	OMIM:614520
Rothmund-Thomson Syndrome Type 2	Nail dysplasia, Abnormal ulnar metaphysis morphology, Finger symphalangism, Aplasia/hypoplasia in...	ORPHA:221016
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Umbilical hernia, Inguinal hernia, Interrupted inferior vena cav...	OMIM:618846
8P11.2 Deletion Syndrome	Hypoplasia of penis, Anosmia, Microcephaly, Depressed nasal bridge, Talipes equinovarus, Iris col...	ORPHA:251066
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Secondary microcephaly, Brachycephaly, Proximal placement of thumb, Progressive microcephaly, Uln...	OMIM:616263
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Gastrointestinal hemorrhage, Melena, Clubbing of fingers, Broad phalanx...	ORPHA:79076
Coffin-Siris Syndrome 1	Sandal gap, Dislocated radial head, Abnormal pinna morphology, Prominent fingertip pads, Prominen...	OMIM:135900
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Cutis Laxa, Autosomal Recessive, Type Iid	Pneumothorax, Atrial septal defect, Congestive heart failure, Right bundle branch block, Low-set ...	OMIM:617403
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Proteinuria, Micropenis, P...	OMIM:619471
Wiedemann-Rautenstrauch Syndrome	Narrow nasal ridge, Short humerus, Long toe, Clinodactyly, Genu varum, Narrow nose, Long foot, Hy...	OMIM:264090
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent upper respiratory tract infections, Talipes equinovarus, Persistence of primary teeth	OMIM:619752
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Anteverted nares, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract infections	OMIM:614069
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Low-set ears, Sparse lateral eyebrow, Posteriorly rotated ears, Sparse hai...	OMIM:618644
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epiphyseal stippling, Ecchymosis, Epistaxis, Short distal phalanx of finger	OMIM:277450
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of corpus callosum	OMIM:207950
Agel Amyloidosis	Nail dystrophy, Cardiomyopathy, Hearing impairment, Arrhythmia, Respiratory tract infection, Spar...	ORPHA:85448
Catel-Manzke Syndrome	Genu valgum, Clinodactyly of the 5th finger, Low insertion of columella, Single transverse palmar...	OMIM:616145
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Highly arched eyebrow, Microtia, Pulmonary arterial hypertension, Hearing impairment, Recurrent r...	ORPHA:2282
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Patent foramen ovale, Aspiration pneumonia, Tricuspid regu...	OMIM:619167
Eisenmenger Syndrome	Vertigo, Clubbing, Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart m...	ORPHA:97214
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Short nose, Hypospadias, Hypoplasia of penis, Delayed eruption of te...	ORPHA:2315
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormality of the humeroulnar joint, Sparse body hair	ORPHA:2234
Omodysplasia 1	Limited elbow extension, Short nose, Fibular hypoplasia, Limited knee flexion/extension, Rhizomel...	OMIM:258315
Joubert Syndrome 39	Postaxial polydactyly, Polycystic kidney dysplasia, Joint contracture of the 5th finger	OMIM:619562
Scorpion Envenomation	Myocarditis, Mydriasis, Congestive heart failure, Acute kidney injury, Prominent U wave, Hyperten...	ORPHA:466677
Intellectual Developmental Disorder, X-Linked 112	Right aortic arch	OMIM:301111
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Ventricular septal defect, Low-set, posteriorly rotated ears, Brachydactyly	ORPHA:457193
Bone Marrow Failure Syndrome 3	Nail dystrophy, Small nail, Congenital hip dislocation, Hearing impairment, Metaphyseal dysplasia...	OMIM:617052
Caudal Regression Syndrome	Ureteral duplication, Ectopic kidney, Abnormal iliac wing morphology, Vesicoureteral reflux, Abno...	ORPHA:3027
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Hypoplasia of the fovea, Albinism, Blue ir...	OMIM:203100
Townes-Brocks Syndrome 2	Microtia, Overfolded helix, Spina bifida occulta, Cupped ear	OMIM:617466
Adenylosuccinase Deficiency	Cerebral atrophy, Elevated urinary succinylaminoimidazole carboxamide riboside level, Brachycepha...	OMIM:103050
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Microphthalmia	OMIM:273395
Schwartz-Jampel Syndrome	Flexion contracture of toe, Wrist flexion contracture, Death in infancy, Microcephaly, Umbilical ...	ORPHA:800
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis	OMIM:620024
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Pes cavus, Decreased CSF homovanillic acid concentrat...	ORPHA:98808
Mckusick-Kaufman Syndrome	Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Postaxial hand polydactyly, Cong...	OMIM:236700
Lethal Congenital Contracture Syndrome 10	Convex nasal ridge, Short long bone, Femoral bowing, Adducted thumb, Overlapping fingers, Talipes...	OMIM:617022
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Abnormal long bone morphology, Renal phosphate wasting, Proxima...	ORPHA:411634
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricula...	OMIM:300952
Bruck Syndrome	Bowing of the long bones, Talipes equinovarus	ORPHA:2771
Ullrich Congenital Muscular Dystrophy 1A	Increased laxity of ankles, Increased laxity of fingers, Talipes equinovarus, Hip dislocation	OMIM:254090
Laing Early-Onset Distal Myopathy	Abnormal calf musculature morphology, Talipes cavus equinovarus, Toe extensor amyotrophy	ORPHA:59135
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Prolonged PR interval, Atrial fibrillation, Pulmonary artery atresia, Secundum atrial septal defe...	OMIM:108900
Potocki-Lupski Syndrome	Hearing impairment, Atrial septal defect, Patent foramen ovale	OMIM:610883
Alpha-Mannosidosis, Infantile Form	Talipes valgus, Cranial hyperostosis, Brachycephaly, Genu valgum, Subcortical cerebral atrophy, B...	ORPHA:309282
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Death in childhood, Talipes equinovarus, Abnormality of the epiph...	OMIM:618641
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary dysplasia, Misalignment of ...	OMIM:265380
Intellectual Developmental Disorder, Autosomal Recessive 72	Low-set ears, Macrotia, Secundum atrial septal defect, Posteriorly rotated ears	OMIM:618665
Griscelli Syndrome Type 2	Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:79477
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Flared iliac wing, Tr...	OMIM:312870
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Retinal calcification, Vitreoretinopathy, Tibial bowing, Iris atrophy, Exudative ...	OMIM:259770
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Overlapping toe, Ventriculomegaly, Aplasia/Hypoplasia of the cerebellum, Abnorma...	ORPHA:480880
Congenital Sialidosis Type 2	Hydrocephalus, Polydactyly, Petechiae, Umbilical hernia	ORPHA:93400
Facial Paresis, Hereditary Congenital, 3	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:614744
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology, Cerebral calcification	ORPHA:73256
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Elbow flexion contracture, Inguinal hernia, Hiatus hernia	OMIM:122470
Denys-Drash Syndrome	Congenital diaphragmatic hernia, Posterolateral diaphragmatic hernia	OMIM:194080
Syndromic Diarrhea	Trichorrhexis nodosa, Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Generalized h...	ORPHA:84064
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Breast hypoplasia, Alopecia of scalp, Triphalangeal thumb, Decreased palmar creases, Hearing impa...	ORPHA:2232
Geleophysic Dysplasia 1	Short nose, Cone-shaped epiphysis, Anteverted nares, Short long bone, Wrist flexion contracture, ...	OMIM:231050
Hajdu-Cheney Syndrome	Genu valgum, Fibular bowing, Osteolytic defects of the phalanges of the hand, Hypospadias, Wide n...	OMIM:102500
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hearing impairment, Microphthalmia, Death in childhood	OMIM:301108
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Syncope, Transi...	ORPHA:99104
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly, Congenital hip dislocation	OMIM:616355
Lymphedema-Distichiasis Syndrome	Microphthalmia, Yellow nails, Chylothorax, Distichiasis, Tetralogy of Fallot, Arrhythmia, Ventric...	OMIM:153400
Acrocephalopolydactylous Dysplasia	Short nose, Enlarged kidney, Postaxial hand polydactyly, Micromelia, Craniosynostosis, Cystic ren...	OMIM:200995
Kabuki Syndrome	Short columella, Hypospadias, Small hand, Hydrocephalus, Hypoplasia of penis, Short 5th finger, C...	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	Limited elbow extension, Genu valgum, Broad long bone diaphyses, Broad metacarpals, Bifid nose, D...	OMIM:301066
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Low-set ears, Macrotia, Recurrent respiratory infecti...	OMIM:617050
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Short nose, Progressive microcephaly, Cerebral white matter atrophy, Abnormal periventricular whi...	ORPHA:329178
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Nephronophthisis 18	Hydrocephalus, Stage 5 chronic kidney disease, Nephronophthisis, Tubulointerstitial nephritis	OMIM:615862
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Ectropion, Finger syndactyly, Phimosis, Corneal opacity, Conjunctivitis, Ca...	ORPHA:2908
Primary Ciliary Dyskinesia	Hydrocephalus, Clubbing, Nasal congestion, Chronic rhinitis, Nasal polyposis, Ventriculomegaly	ORPHA:244
Chondrodysplasia Punctata, Autosomal Dominant	Epiphyseal stippling, Frontal bossing, Hip contracture, Knee flexion contracture, Hypoplasia of t...	OMIM:118650
Gapo Syndrome	Plagiocephaly, Short nose, Tubulointerstitial fibrosis, Anteverted nares, Eruption failure, Redun...	OMIM:230740
Transaldolase Deficiency	Atrial septal defect, Biventricular hypertrophy, Telangiectasia	ORPHA:101028
Alternating Hemiplegia Of Childhood	Mydriasis, Cardiomyopathy, Cardiac conduction abnormality, Thin eyebrow, Arrhythmia, Abnormal T-wave	ORPHA:2131
Faciocardiomelic Syndrome	Polydactyly, Telecanthus, Slender long bone, Hypoplastic pelvis, Ptosis, Short eyelashes	OMIM:612731
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Low posterior hairline, Pulmonic stenosis, Macrotia, Secundum atrial septa...	OMIM:615802
Cerebrofaciothoracic Dysplasia	Brachycephaly, Hypoplasia of the corpus callosum, Short nose, Wide nose, Cerebellar vermis hypopl...	ORPHA:1394
Phace Syndrome	Abnormal carotid artery morphology, Microphthalmia, Aortic root aneurysm, Optic nerve hypoplasia,...	ORPHA:42775
Glycogen Storage Disease Iv	Tubulointerstitial fibrosis, Talipes equinovarus	OMIM:232500
Schinzel-Giedion Syndrome	Tibial bowing, Umbilical hernia, Short distal phalanx of finger, Ventriculomegaly, Overlapping to...	ORPHA:798
Rabin-Pappas Syndrome	Hypoplasia of the corpus callosum, Low hanging columella, Hydrocephalus, Optic nerve hypoplasia, ...	OMIM:620155
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopat...	ORPHA:79430
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Short nose, 2-3 toe syndactyly, Prominent nasal tip, Brachyturricephaly, Bilateral...	ORPHA:522077
Renal And Mullerian Duct Hypoplasia	Short nose, Anteriorly displaced urethral meatus, Frontal bossing, Renal hypoplasia, Horseshoe ki...	OMIM:266810
Cardiac-Urogenital Syndrome	Mesocardia, Patent urachus, Partial anomalous pulmonary venous return, Dextrocardia, Scimitar ano...	OMIM:618280
Linear Nevus Sebaceus Syndrome	Irregular hyperpigmentation, Microphthalmia, Telecanthus, Melanocytic nevus, Alopecia	ORPHA:2612
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia, Abnormal pinna morphology, Low-set ears, Death in infancy, Secundum atria...	OMIM:609069
Loeys-Dietz Syndrome 4	Cutis laxa, Arachnodactyly, Protrusio acetabuli, Dolichocephaly, Pes planus, Striae distensae, Ta...	OMIM:614816
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Plagiocephaly, Craniosynostosis, Wide nose, Midline nasal groove, Asymmetry of the nares, Broad n...	ORPHA:1521
Japanese Encephalitis	Distal lower limb muscle weakness, Distal upper limb muscle weakness, Genu recurvatum, CSF lympho...	ORPHA:79139
Krabbe Disease	Hydrocephalus, Diffuse cerebral atrophy, Increased CSF protein concentration	OMIM:245200
Kabuki Syndrome 1	Recurrent otitis media, Highly arched eyebrow, Hydrocephalus, Hirsutism, Prominent fingertip pads...	OMIM:147920
Aortic Valve Disease 3	Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect	OMIM:618496
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Long foot, Megalencephaly, Communicating hydrocephalus, Cerebral cortical atrophy, Arachnodactyly...	OMIM:617011
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Prolonged QT interval, Tachycardia, Patent foramen ovale, Pericardial effus...	ORPHA:26793
Phakomatosis Pigmentokeratotica	Patchy alopecia, Spina bifida, Hemiatrophy, Raynaud phenomenon, Melanocytic nevus, Arrhythmia	ORPHA:2874
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale, Shoulder girdle muscle weakness	OMIM:615156
Maternal Uniparental Disomy Of Chromosome 2	Clinodactyly of the 5th finger, Hypospadias, Miscarriage, Abnormality of the ankle, Chordee, Prea...	ORPHA:96179
Bardet-Biedl Syndrome	Hypoplasia of penis, Hypertension, Cardiomyopathy, Multiple renal cysts, Syndactyly, Astigmatism,...	ORPHA:110
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Otodental Syndrome	Abnormal dental enamel morphology, Microphthalmia, Lens coloboma	ORPHA:2791
Restrictive Dermopathy 1	Rocker bottom foot, Short umbilical cord, Atrial septal defect, Stillbirth, Short clavicles, Abse...	OMIM:275210
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Alopecia	OMIM:616353
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	High anterior hairline, Clinodactyly of the 5th finger, Patent foramen ovale, Sparse scalp hair, ...	ORPHA:477993
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Recurrent otitis media, Muscular ventricular septal defect, Patent foramen ova...	OMIM:157800
Tenorio Syndrome	Wide nose, Cavum septum pellucidum, Hydrocephalus, Anteverted nares, Enuresis, Cerebral cortical ...	OMIM:616260
Blomstrand Lethal Chondrodysplasia	Short nose, Rhizomelia, Flared metaphysis, Metaphyseal cupping, Anteverted nares, Short metacarpa...	ORPHA:50945
Odontoonychodermal Dysplasia	Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Dystrophic toenail, Sparse scalp ...	OMIM:257980
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Arterial Tortuosity Syndrome	Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Redundant skin, Coxa vara, Arachn...	ORPHA:3342
Neuromuscular Oculoauditory Syndrome	Calf muscle hypertrophy, Wrist flexion contracture, Multiple renal cysts, Agenesis of corpus call...	OMIM:618733
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Chalazion, Pulmonary arterial hypertension, Slender finger, Hearing impairment, Long fingers, Sec...	OMIM:613355
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	Anteverted nares, Hip dysplasia, Camptodactyly, Concave nasal ridge, Cutis laxa, Hand clenching, ...	OMIM:617402
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Low-set ears, Long eyelashes, Short p...	OMIM:614756
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Neurogenic bladder, Dermal sinus tract, Myelomeningocel...	OMIM:600145
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Brachycephaly, Short nose, Posterior plagiocephaly, Sandal gap, Cerebellar vermis hypoplasia, Opt...	OMIM:620330
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Wrinkly Skin Syndrome	Deep plantar creases, Neonatal wrinkled skin of hands and feet, Deep palmar crease, Delayed erupt...	OMIM:278250
Atypical Werner Syndrome	Premature graying of hair, Rocker bottom foot, Hypertension, White forelock, Aortic valve stenosi...	ORPHA:79474
Houge-Janssens Syndrome 3	Single transverse palmar crease, Atrial septal defect, Muscular ventricular septal defect, Umbili...	OMIM:618354
Cole-Carpenter Syndrome 1	Hydrocephalus, Communicating hydrocephalus, Coronal craniosynostosis, Frontal bossing, Orbital cr...	OMIM:112240
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Infertility, Hypopigmentation of the skin, Almond-shaped palpebral fiss...	ORPHA:398079
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the eyebrow, Hypospadias, Telecanthus, Keratoconus, Abnormal eyelash morpho...	ORPHA:286
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent foramen ovale, Pulmonary hypoplasia	OMIM:616867
Poikiloderma With Neutropenia	Short nose, Underdeveloped nasal alae, Frontal bossing, Recurrent sinusitis, Plantar hyperkeratos...	OMIM:604173
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG	OMIM:178650
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension	OMIM:614475
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Brachycephaly, Short nose, Adducted thumb, Nephrotic syndrome, Arachnodactyly, Hydronephrosis, Ec...	OMIM:601776
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Epistaxis, Hypoplasia of the fovea, Albinism, Ocular albinism	OMIM:614074
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Thin corpus callosum, Knee flexion contracture, Polymicrogyria, Bilateral talipes equinovarus, Hy...	OMIM:619708
Mosaic Monosomy X	Prolonged QT interval, Hyperconvex fingernails, Abnormal pinna morphology, Hypertension, Low post...	ORPHA:99228
Monosomy X	Prolonged QT interval, Hyperconvex fingernails, Abnormal pinna morphology, Hypertension, Low post...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Hyperconvex fingernails, Abnormal pinna morphology, Hypertension, Low post...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Hyperconvex fingernails, Abnormal pinna morphology, Hypertension, Low post...	ORPHA:99413
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Microcephaly, Ventriculomegaly, Hypospadias, Hydrocephalus, Tapered distal phalanges of finger, A...	OMIM:619475
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Microcephaly, Agenesis of corpus callosum, Bulbous nose, Depressed nasal bridge	ORPHA:261144
Immunodeficiency 110 With Lymphoproliferation	Recurrent lower respiratory tract infections, Patent foramen ovale, Recurrent sinusitis, Recurren...	OMIM:614868
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the pons, Abnormality of the anterior c...	OMIM:617542
Cockayne Syndrome A	Normal pressure hydrocephalus, Square pelvis bone, Hypoplastic iliac wing, Sensorineural hearing ...	OMIM:216400
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Prominent occiput, Abnormal ...	ORPHA:79500
Hypotrichosis 14	Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair	OMIM:618275
Loeys-Dietz Syndrome 2	Hydrocephalus, Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arachnodactyly, Pro...	OMIM:610168
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
46,Xy Sex Reversal 4	Sensorineural hearing impairment, Microtia, Recurrent otitis media	OMIM:154230
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pallor	ORPHA:163596
Noonan Syndrome 1	Radial deviation of finger, Cubitus valgus, Chylothorax, Sensorineural hearing impairment, Low-se...	OMIM:163950
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Aortic regurgitation, Abnormality iris morphology, Hypertension, Transient ische...	ORPHA:91387
Bohring-Opitz Syndrome	Hypoplasia of the corpus callosum, Fixed elbow flexion, Dandy-Walker malformation, Metacarpophala...	ORPHA:97297
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Hermansky-Pudlak Syndrome 8	Iris transillumination defect, Silver-gray hair, Generalized hypopigmentation, Epistaxis, Hypopla...	OMIM:614077
Epidermolysis Bullosa Simplex With Pyloric Atresia	Nail dystrophy, Microtia, Scarring alopecia of scalp	ORPHA:158684
Craniofacial-Deafness-Hand Syndrome	Short nose, Narrow naris, Ulnar deviation of the hand, Depressed nasal bridge	OMIM:122880
Bilateral Polymicrogyria	Aplasia/Hypoplasia of the cerebral white matter, Aplasia/Hypoplasia of the brainstem, Perisylvian...	ORPHA:268940
Neurofibromatosis-Noonan Syndrome	Inguinal freckling, Cubitus valgus, Low-set ears, Multiple cafe-au-lait spots, Low posterior hair...	OMIM:601321
Viss Syndrome	Pulmonary artery aneurysm, Iliac artery aneurysm, Epidural hemorrhage, Abnormal branching pattern...	OMIM:619472
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Sensorineural hearing impairment, Microtia, Synophrys, Hearing impairment, Aplasia of the inner ear	ORPHA:90024
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Hip subluxation, Congenital bilateral hip dislocation, Elbow flexion contracture, Trigonocephaly,...	ORPHA:1900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Hypoplasia of the corpus callosum, Plagiocephaly, Talipes, Branchial anomaly, Coloboma, Vesicoure...	ORPHA:453499
Neurodegeneration With Brain Iron Accumulation 2A	Cerebral atrophy, Frontal bossing, Short nose	OMIM:256600
47,Xyy Syndrome	Hydrocephalus, Finger clinodactyly, Micropenis, Hypospadias	ORPHA:8
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Sensorineural hearing impairment, Hypogonadism, Freckling, Pigmentary retinopathy	OMIM:610651
Craniolenticulosutural Dysplasia	Hyperpigmentation of the skin, Brittle hair, Abnormality of skin pigmentation, High iliac wing, S...	ORPHA:50814
Ulnar-Mammary Syndrome	Aplasia of the 4th metacarpal, Short humerus, Sparse axillary hair, Absent radius, Aplasia of the...	OMIM:181450
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes, Delayed eruption of teet...	OMIM:300990
Neu-Laxova Syndrome	Abnormal hair morphology, Abnormal eyelash morphology, Micromelia, Spina bifida, Macrotia, Large ...	ORPHA:2671
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyelashes, Sparse eyebrow, Periorbital hyperpigmentation, Sparse hair	OMIM:224900
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Hermansky-Pudlak Syndrome 6	Iris transillumination defect, Hypopigmentation of the skin, Recurrent upper respiratory tract in...	OMIM:614075
Classic Phenylketonuria	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Spontaneous, recurrent epistaxis, Hypopigmentation of...	OMIM:214500
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Ventricular septal defect, Low-set ears	ORPHA:261190
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Recurrent respiratory infections, Hypopigmentation of the skin, Hip dys...	ORPHA:398069
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Radial deviation of finger, Genu valgum, Hypospadias, Anteverted nares, Vesicoureteral reflux, Ta...	OMIM:309580
Choanal Atresia	Polydactyly, Craniosynostosis, Nasal congestion	ORPHA:137914
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Left-to-right shunt, Broad thumb, Syndactyly, Polydactyly, Aorti...	OMIM:619534
Menkes Disease	Abnormal metaphysis morphology, Gastrointestinal hemorrhage, Tarsal synostosis, Hypopigmentation ...	ORPHA:565
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric...	ORPHA:555874
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Excessive wrinkled skin, In...	OMIM:225400
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul...	OMIM:224700
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Inguinal freckling, Genu valgum, Abnormal tibia morphology, Hydrocephalus, Patent foramen ovale, ...	ORPHA:363700
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Anteverted nares, Frontal bossing, Depressed nasal bridge, Concave nasal ridge	OMIM:613038
Okamoto Syndrome	Polydactyly, Abnormal left ventricle morphology, Abnormally large globe, Abnormal helix morpholog...	ORPHA:2729
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl...	ORPHA:56305
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hydrocephalus, Cerebral calcification, ...	ORPHA:228308
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Thick hair, Portal hypertension, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia	OMIM:607626
Plasminogen Deficiency, Type I	Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Nephritis, Cerebellar hypoplasia, Vent...	OMIM:217090
Marden-Walker Syndrome	Epispadias, Talipes, Hypospadias, Hydroureter, Hydrocephalus, Microcephaly, Arachnodactyly, Campt...	ORPHA:2461
Noonan Syndrome 3	Tricuspid valve prolapse, Patent foramen ovale, Low-set ears, Hypertrophic cardiomyopathy, Pulmon...	OMIM:609942
Atrial Septal Defect 1	Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu...	OMIM:108800
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect	OMIM:619881
Ifap Syndrome 2	Nail dystrophy, Atrichia, Sparse hair	OMIM:619016
Hennekam Syndrome	Finger syndactyly, Chylothorax, Abnormal pinna morphology, Low-set ears, Camptodactyly of finger,...	ORPHA:2136
Hydrocephaly-Low Insertion Umbilicus Syndrome	Long nose, Wide nose, Communicating hydrocephalus	ORPHA:2184
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hydrocephalus, Cerebral calcification, Cerebellar vermis hypop...	ORPHA:157
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Polycystic kidney dysplasia, Elbow flexion cont...	OMIM:200980
Aicardi Syndrome	Microphthalmia, Sparse lateral eyebrow, Abnormality of skin pigmentation, Abnormality of retinal ...	ORPHA:50
Pallister-Killian Syndrome	Hypopigmentation of the skin, Aortic valve stenosis, Sparse hair, Umbilical hernia, Hip dislocati...	OMIM:601803
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe...	OMIM:620066
Intellectual Developmental Disorder, X-Linked 21	Short nose	OMIM:300143
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Arachnodactyly, Aplasia/Hypoplasia of the cerebellum, Abnormal hip bone morphology	ORPHA:2720
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Short thumb, Radioulna...	ORPHA:2307
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent lower respiratory tract infections, Recurrent respiratory infections, Single transverse...	OMIM:612541
22Q11.2 Duplication Syndrome	Interrupted aortic arch, Transposition of the great arteries, Tetralogy of Fallot	ORPHA:1727
Legius Syndrome	Polydactyly, Xanthelasma, Clinodactyly of the 5th finger, Nephrolithiasis, Male urethral meatus s...	ORPHA:137605
Proteus Syndrome	Irregular hyperpigmentation, Macrodactyly, Bronchogenic cyst, Abnormal finger morphology, Upper l...	ORPHA:744
Subependymal Nodular Heterotopia	Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele	ORPHA:101030
Culler-Jones Syndrome	Postaxial polydactyly, Micropenis	OMIM:615849
Renal Hypodysplasia/Aplasia 1	Proteinuria, Talipes equinovarus	OMIM:191830
Autosomal Recessive Spastic Paraplegia Type 55	Hypoplasia of the corpus callosum, Tibialis muscle weakness, Focal white matter lesions, Talipes ...	ORPHA:320375
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Highly arched eyebrow, Sensorineural he...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Highly arched eyebrow, Sensorineural he...	ORPHA:353277
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Horseshoe kidney, Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydac...	OMIM:617088
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Sensorineural heari...	ORPHA:209905
Lethal Congenital Contracture Syndrome 9	Short umbilical cord, Anteverted nares, Wrist flexion contracture, Ulnar deviation of the hand, D...	OMIM:616503
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phal...	ORPHA:90154
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Microcephaly	ORPHA:398189
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Wide nasal bridge, Hypospadias, Umbilical hernia	OMIM:601499
Osteogenesis Imperfecta	Abnormal femur morphology, Abnormal hip bone morphology, Prominent occiput, Dislocated radial hea...	ORPHA:666
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Bradycardia, Abnorm...	ORPHA:79404
Developmental And Epileptic Encephalopathy 90	Atrial septal defect	OMIM:301058
Formiminoglutamic Aciduria	Atrial septal defect	ORPHA:51208
Cadds	Ventriculomegaly, Short nose, Abnormal cerebral white matter morphology	ORPHA:369942
Proximal Spinal Muscular Atrophy	Distal upper limb muscle weakness, Bradycardia, Elbow flexion contracture, Triceps weakness, Recu...	ORPHA:70
Griscelli Syndrome	Hydrocephalus, Pedal edema, Encephalocele	ORPHA:381
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Death in infancy	OMIM:600559
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Wide nose, Hypoplasia of penis, Abnormal pelvis bone ossification...	ORPHA:93271
Restrictive Dermopathy	Short umbilical cord, Large placenta, Transposition of the great arteries, Small placenta, Sparse...	ORPHA:1662
H Syndrome	Enlarged kidney, Recurrent pharyngitis, Hydrocephalus, Camptodactyly, Chronic rhinitis, Pes planu...	ORPHA:168569
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Dend Syndrome	Short nose, Anteverted nares, Clinodactyly of the 4th finger	ORPHA:79134
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Telecanthus, Sen...	ORPHA:163746
Glutaryl-Coa Dehydrogenase Deficiency	Abnormal putamen morphology, Glutaric aciduria, Subependymal nodules, Abnormal basal ganglia morp...	ORPHA:25
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Broad eyebrow, Highly arched eyebrow, Sensorineural hearing impairment, Sacral hypertrichosis, At...	ORPHA:457351
Kyphoscoliotic Ehlers-Danlos Syndrome	Abnormality of the hand, Abnormal foot morphology, Abnormal nasal bridge morphology, Shoulder dis...	ORPHA:536545
Wiedemann-Rautenstrauch Syndrome	Pulmonic stenosis, Congenital malformation of the left heart, Short humerus, Aplasia/Hypoplasia o...	ORPHA:3455
Meckel Syndrome, Type 7	Situs inversus totalis, Portal hypertension, Aortic valve stenosis, Right ventricular hypertrophy...	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	Umbilical hernia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Atrial septa...	OMIM:619769
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Secundum atrial septal defect, Pu...	OMIM:616866
Hemangioblastoma	Hydrocephalus, Neurogenic bladder	ORPHA:252054
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Profound sensorineural hearing impairment, Microtia, first degree, Anteverted ears, Aplasia of th...	OMIM:610706
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Atrioventricular canal defect, Clinodactyly of the 5t...	ORPHA:3047
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Beemer-Ertbruggen Syndrome	Bulbous nose, Wide nasal bridge, Communicating hydrocephalus	ORPHA:1237
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Prominent occiput, Polycystic kidney dysplasia, Short ...	ORPHA:3404
Lhermitte-Duclos Disease	Hydrocephalus, Polymicrogyria, Hand polydactyly	ORPHA:65285
Parkinsonian-Pyramidal Syndrome	Lewy bodies, Neurogenic bladder, Substantia nigra gliosis, Talipes equinovarus	ORPHA:171695
Cornelia De Lange Syndrome 6	Hypoplasia of the corpus callosum, Short nose, Clinodactyly of the 5th finger, Anteverted nares, ...	OMIM:620568
Cerebral Visual Impairment	Ischemic stroke, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Abnormal cerebral white mat...	ORPHA:447788
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Abnormal lung lobation, Slender long bone, Upper limb undergrowth, Restrictive cardiomyopathy, Lo...	ORPHA:369837
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Periorbital hyperpigmentation, Brittle hair, Absent eyelashes, Hypoplastic nipples, Absent nipple...	OMIM:305100
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent hair, Absent nipple, Sparse hair, Brittle hair	OMIM:614940
Tetrasomy 9P	Bilateral single transverse palmar creases, Convex nasal ridge, Clinodactyly of the 5th finger, H...	ORPHA:3310
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Infertility, Hypopigmentation of the skin, Almond-shaped palpebral fiss...	ORPHA:98754
Oeis Complex	Epispadias, Hydroureter, Vesicovaginal fistula, Hydrocephalus, Pelvic kidney, Myelomeningocele, C...	OMIM:258040
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Low anterior hairline	OMIM:619909
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Nail dysplasia, Clinodactyly of the 5th finger, Cerebral hemorrhage, Sparse hair, Overlapping toe...	OMIM:616682
Loeys-Dietz Syndrome 1	Hydrocephalus, Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, Arachnodactyly, ...	OMIM:609192
Deeah Syndrome	Short nose, Death in childhood, Prominent nasal tip, Extra-axial cerebrospinal fluid accumulation...	OMIM:619004
Bannayan-Riley-Ruvalcaba Syndrome	Short nose, Wide nose, Anteverted nares, Broad thumb, Frontal bossing, Dolichocephaly	ORPHA:109
Wrinkly Skin Syndrome	Deep palmar crease, Multiple palmar creases, Low-set ears, Atrial septal dilatation, Congenital h...	ORPHA:2834
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Atrioventricular canal defect, Pulmonary arterial hypertension, Aortic v...	ORPHA:210122
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Broad distal phalanx of finger, Abnormal proximal phalanx morphology of the hand, Recu...	ORPHA:353281
Bdv Syndrome	Macrotia, Atrial septal defect	OMIM:619326
Combined Oxidative Phosphorylation Deficiency 9	Patent foramen ovale, Death in childhood, Hypertrophic cardiomyopathy	OMIM:614582
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Pulmonary arterial hypertension	OMIM:614857
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Infertility, Hypopigmentation of the skin, Almond-shaped palpebral fiss...	ORPHA:98793
Alzahrani-Kuwahara Syndrome	Hyperpigmentation of the skin, Patent foramen ovale, Low-set ears, Coronary sinus enlargement, He...	OMIM:619268
Synaptic Congenital Myasthenic Syndromes	Scapular winging, Hand muscle weakness, Abnormality of the knee, Limited wrist extension, Talipes...	ORPHA:98915
Mucopolysaccharidosis Type 3	Genu valgum, Adenoiditis, Craniofacial hyperostosis, Hydrocephalus, Hip dysplasia, Thick nasal al...	ORPHA:581
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect, Pulmonary fibrosis	OMIM:611926
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Infertility, Hypopigmentation of the skin, Almond-shaped palpebral fiss...	ORPHA:177904
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Infertility, Hypopigmentation of the skin, Almond-shaped palpebral fiss...	ORPHA:177901
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Rhabdomyosarcoma, Leiomyosarcoma, Inguinal hernia, Diastasis rec...	ORPHA:116
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Atrial septal defect, Fine hair, Sparse hair, Brittle hair	OMIM:618891
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Vesicoureteral reflux, Bifid ureter, Calvarial skull defe...	ORPHA:1571
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Atrioventricular canal defect, Low-set ears, Spina bifida, Posteriorly rotated ears, Thickened he...	OMIM:619480
Prader-Willi Syndrome	Hypopigmentation of hair, Hypertension, Hypopigmentation of the skin, Hip dysplasia, Recurrent re...	ORPHA:739
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect	OMIM:611087
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene...	ORPHA:3322
Phosphoribosylpyrophosphate Synthetase Superactivity	Death in childhood, Sensorineural hearing impairment, Low-set ears, 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	Clinodactyly of the 5th finger, Abnormal heart morphology, Syndactyly, Brachydactyly, Abnormality...	ORPHA:96182
Intellectual Developmental Disorder, Autosomal Dominant 38	Microcephaly, Cerebral atrophy, Depressed nasal bridge, Talipes equinovarus	OMIM:616393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Polymicrogyria, Type II lissencephaly, Coloboma, Microcephaly, Pallor, Short nasal...	OMIM:253280
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Anteverted nares, Short nose, Depressed nasal bridge	OMIM:242860
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Delayed eruption of teeth, Hydrocephalus, Bowing of the long bone...	ORPHA:667
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr...	ORPHA:542306
Craniolenticulosutural Dysplasia	Brittle hair, Narrow iliac wing, High iliac wing, Sparse hair, Forehead hyperpigmentation, Coarse...	OMIM:607812
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Aicardi Syndrome	Microphthalmia, Proximal placement of thumb, Spina bifida, Sparse lateral eyebrow, Recurrent pneu...	OMIM:304050
Aica-Ribosiduria Due To Atic Deficiency	Secundum atrial septal defect, Low-set ears	OMIM:608688
Diamond-Blackfan Anemia 1	Hypoplasia of the radius, Congestive heart failure, Triphalangeal thumb, Spina bifida occulta, Hy...	OMIM:105650
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Neurogenic bladder, Spina bifida occulta, Myelomeningocele	OMIM:613686
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, S...	ORPHA:261537
Osteootohepatoenteric Syndrome	Hydrocephalus, Proteinuria, Hip dysplasia, Avascular necrosis of the capital femoral epiphysis, G...	OMIM:619377
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Sparse body hair, Congenital sensorineural hearing impairment, Camptodactyly	ORPHA:432
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis, Aprosencephaly, Talipes equinovarus	OMIM:601374
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Long foot, Megalencephaly, Communicating hydrocephalus, Cerebral cortical atrophy, Arachnodactyly...	ORPHA:457359
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d...	ORPHA:99094
Transketolase Deficiency	Patent foramen ovale, Hearing impairment, Abnormal heart morphology, Atrial septal defect, Ventri...	ORPHA:488618
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Erythema, Talipes equinovarus	OMIM:614653
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Cerebral atrophy, Polydactyly, 3-Methylglutaconic aciduria, Abnormal basal ganglia MRI signal int...	ORPHA:17
Popliteal Pterygium Syndrome	Talipes equinovarus, Cutaneous finger syndactyly, Spina bifida occulta	OMIM:119500
Semilobar Holoprosencephaly	Cyclopia, Neural tube defect, Proboscis, Single naris, Hydrocephalus, Depressed nasal ridge, Micr...	ORPHA:220386
Alobar Holoprosencephaly	Cyclopia, Neural tube defect, Proboscis, Single naris, Hydrocephalus, Depressed nasal ridge, Micr...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Cyclopia, Neural tube defect, Proboscis, Single naris, Hydrocephalus, Depressed nasal ridge, Micr...	ORPHA:93926
Lobar Holoprosencephaly	Cyclopia, Neural tube defect, Proboscis, Single naris, Hydrocephalus, Depressed nasal ridge, Micr...	ORPHA:93924
Woodhouse-Sakati Syndrome	Abnormal T-wave, Sensorineural hearing impairment, Hearing impairment, Sparse hair, Protruding ea...	OMIM:241080
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Pleural effusion, Cerebral hemorrhage, Bradycardia	OMIM:617397
Coccidioidomycosis	Abnormal long bone morphology, Abnormal metacarpal morphology, Hydrocephalus, CSF lymphocytic ple...	ORPHA:228123
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cutis laxa, Bladder diverticulum, Umbilical hernia, Pes planus, Talipes equinovarus	OMIM:614557
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Sparse axillary hair	OMIM:608615
White-Kernohan Syndrome	Dysplastic corpus callosum, Short nose, Hydroureter, Anteverted nares, Underdeveloped nasal alae,...	OMIM:619426
Pseudo-Torch Syndrome 1	Patent foramen ovale, Low-set ears, Umbilical hernia	OMIM:251290
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Death in childhood, Hydrocephalus, Death in infancy, Lateral ventricle dilatation	OMIM:612301
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Combined Immunodeficiency-Enteropathy Spectrum	Nail dystrophy, Alopecia of scalp, Absent eyebrow, Congenital pulmonary airway malformation, Spar...	ORPHA:436252
Dextrocardia	Hydrocephalus, Abnormality of the ureter, Abnormal foot morphology, Congenital hip dislocation	ORPHA:1666
Glutaric Acidemia I	Hydrocephalus, Glutaric aciduria, Lateral ventricle dilatation, Ketonuria	OMIM:231670
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Enuresis, Absent Achilles r...	ORPHA:268810
Lymphatic Malformation 13	Unilateral deafness, Patent foramen ovale, Pulmonary arterial hypertension, Neonatal death, Atria...	OMIM:620244
Dural Sinus Malformation	Hydrocephalus, Cerebral edema, Myelopathy, Hypoplasia of the frontal lobes	ORPHA:97339
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Atrial reentry tachycar...	OMIM:270100
Chédiak-Higashi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Pleural effusion, Large clumps of pigment...	ORPHA:167
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Hydrocephalus, Cystath...	OMIM:277400
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Increased CSF lactate, Ischemic stroke, Hyperglycorrhachia	ORPHA:90065
Hereditary Cryohydrocytosis With Reduced Stomatin	Intracerebral periventricular calcifications, Cerebral white matter hypoplasia, Microcephaly, Com...	ORPHA:168577
Tooth Agenesis, Selective, 4	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Sparse body hair, Short eyelashes,...	OMIM:150400
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hearing impairment, Atrial septal defect, Patent foramen ovale	OMIM:620327
Wolcott-Rallison Syndrome	Double outlet right ventricle, Atrial septal defect, Metaphyseal dysplasia	ORPHA:1667
Neonatal Lupus Erythematosus	Hydrocephalus, Basal ganglia calcification, Abnormal cerebral white matter morphology	ORPHA:398124
Williams-Beuren Syndrome	Premature graying of hair, Small nail, Sensorineural hearing impairment, Hypertension, Pulmonic s...	OMIM:194050
Lymphatic Malformation 6	Chylothorax, Abnormal pinna morphology, Pleural effusion, Hearing impairment, Atrial septal defec...	OMIM:616843
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98794
Neurofibromatosis, Type I	Inguinal freckling, Aqueductal stenosis, Genu valgum, Hydrocephalus, Hypertension, Multiple cafe-...	OMIM:162200
Thauvin-Robinet-Faivre Syndrome	Long foot, Coloboma, Renal cyst, Retinal coloboma, Long hallux, Large hands, Bifid ureter, Pes pl...	OMIM:617107
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect, Arterial rupture	OMIM:619115
Congenital Myopathy 13	Microcephaly, Ventriculomegaly, Brachycephaly, Bilateral talipes equinovarus	OMIM:255995
Plague	Hematemesis, Mydriasis, Abnormality of the elbow, Hypotension, Conjunctival hyperemia, Arrhythmia...	ORPHA:707
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertension, Low-set ears, Sparse scalp hair, Pleural effusion, Spontan...	OMIM:606721
Aspartylglucosaminuria	Chronic otitis media, Microtia, Abnormal morphology of ulna, Umbilical hernia, Recurrent respirat...	ORPHA:93
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Small nail, Elbow flexion contracture, Death in infancy, Hearing impairment, Abnormality of skin ...	OMIM:300868
Hypermethioninemia Due To Adenosine Kinase Deficiency	Pulmonic stenosis, Sensorineural hearing impairment, Secundum atrial septal defect	OMIM:614300
Sotos Syndrome	Ureteral duplication, Congenital posterior urethral valve, Umbilical hernia, Craniosynostosis, Ve...	ORPHA:821
Gabriele-De Vries Syndrome	Breast hypoplasia, Frontal upsweep of hair, Sandal gap, Patent foramen ovale, Sydney crease, Low-...	ORPHA:506358
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Syndactyly, Adduc...	ORPHA:2152
Ramos-Arroyo Syndrome	Atrial septal defect, High anterior hairline, Bilateral sensorineural hearing impairment, Sparse ...	ORPHA:1051
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L...	OMIM:615474
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Atrial septal defect, Clinodactyly of the 5th finger, Abnormal left ventricle morphology, Abnorma...	ORPHA:466791
Stüve-Wiedemann Syndrome	Abnormal metaphysis morphology, Genu valgum, Elbow flexion contracture, Bowing of the long bones,...	ORPHA:3206
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Calcaneal epiphyseal stippling, Elbow flexion contracture, Low-se...	OMIM:117650
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hypoplasia of the corpus callosum, Pes cavus, Brachycephaly, Skin ulcer, Hydrocephalus, Spontaneo...	ORPHA:2072
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Renal tubular acidosis, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Pes...	OMIM:619575
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Pleural effusion, Pericardial effusion, Atrial septal defect	OMIM:617300
Icf Syndrome	Umbilical hernia, Depressed nasal bridge, Communicating hydrocephalus	ORPHA:2268
Geleophysic Dysplasia 2	Short palm, Cone-shaped epiphysis, Short foot, Short nose	OMIM:614185
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria, Hydrocephalus, Abnormal periventricular white matter morphology, Microcephaly, Ab...	ORPHA:395
Ciliary Dyskinesia, Primary, 43	Chronic rhinitis, Noncommunicating hydrocephalus, Recurrent upper respiratory tract infections	OMIM:618699
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Penile Agenesis	Short nose, Hydroureter, Bilateral talipes equinovarus, Absent penis, Hydronephrosis, Depressed n...	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	Hydrocephalus, Cerebral calcification, Cerebral cortical atrophy, Iris coloboma	ORPHA:3205
Alagille Syndrome 1	Hypoplasia of the ulna, Low-set ears, Macrotia, Tetralogy of Fallot, Short distal phalanx of fing...	OMIM:118450
Floating-Harbor Syndrome	Mesocardia, Dislocated radial head, Short clavicles, Low-set ears, Short metacarpal, Cochlear mal...	ORPHA:2044
Aortic Valve Disease 2	Aortic regurgitation, Patent foramen ovale, Pulmonic stenosis, Aortic valve stenosis, Bicuspid ao...	OMIM:614823
Kenny-Caffey Syndrome, Type 2	Thickened cortex of long bones, Microphthalmia, Abnormality of the medullary cavity of the long b...	OMIM:127000
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Periventricular white matter hyperintensities, Cerebral atrophy, Macular coloboma, Hemolytic-urem...	ORPHA:79282
Alexander Disease	Aqueductal stenosis, Megalencephaly, Hydrocephalus, Cerebral calcification, Frontal bossing, Agen...	ORPHA:58
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Oxoglutaric Aciduria	Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration	ORPHA:31
Sirenomelia	Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida	ORPHA:3169
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Portal hypertension, Aortic valve stenosis, Neonatal death, Pulmonary hyp...	OMIM:208540
Classical Ehlers-Danlos Syndrome	Abnormal foot morphology, Dislocated radial head, Shoulder dislocation, Phalangeal dislocation, E...	ORPHA:287
Singleton-Merten Syndrome 1	Pes cavus, Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened me...	OMIM:182250
Isolated Cleft Lip	Talipes equinovarus, Umbilical hernia	ORPHA:199302
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Anosmia, Chronic rhinitis, Communicating hydrocephalus	OMIM:244400
Encephalocraniocutaneous Lipomatosis	Interrupted aortic arch, Abnormal aortic morphology, Coarctation of aorta, Lipodystrophy, Multipl...	ORPHA:2396
Amish Lethal Microcephaly	Death in infancy, Spina bifida	ORPHA:99742
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Synostosis of the proximal...	OMIM:300967
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Congenital Fiber-Type Disproportion Myopathy	Pes cavus, Ankle flexion contracture, Talipes equinovarus, Elbow flexion contracture, Congenital ...	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, Fine hair, Intraalveolar phospholipid accumulation, Sparse hair	OMIM:222700
Hypomandibular Faciocranial Dysostosis	Atrial septal defect	OMIM:241310
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Dry skin, Microcephaly	ORPHA:220295
Craniopharyngioma	Hydrocephalus, Cerebral calcification, Abnormal frontal bone morphology, Abnormal nasal bone morp...	ORPHA:54595
Hawkinsinuria	Sparse hair	OMIM:140350
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Flared metaphysis, Coarse metaphyseal trabecularization, Hip dysplasia, Thickened cortex of long ...	OMIM:620558
Stickler Syndrome	Short nose, Advanced eruption of teeth, Genu valgum, Abnormal diaphysis morphology, Anteverted na...	ORPHA:828
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Death in childhood, Clinodactyly of the 5th finger,...	OMIM:243800
Liver Disease, Severe Congenital	Left atrial enlargement, Pulmonary edema, Nail dystrophy, Recurrent otitis media, Pneumonia, Pate...	OMIM:619991
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Loeys-Dietz Syndrome 3	Pneumothorax, Aortic regurgitation, Atrial fibrillation, Ventricular hypertrophy, Camptodactyly, ...	OMIM:613795
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Optic nerve hypoplasia, Septo-optic dysplasia, Abnormal digit morphology, Depressed ...	ORPHA:95494
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent respiratory infections, Aplasia of the sweat glands, Sparse scalp hair, Sparse hair	OMIM:612132
Abetalipoproteinemia	Pes cavus, Distal lower limb muscle weakness, Talipes equinovarus	ORPHA:14
Ectodermal Dysplasia-Skin Fragility Syndrome	Nail dystrophy, Recurrent pneumonia, Sparse hair, Palmoplantar keratoderma, Alopecia universalis	ORPHA:158668
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Hardikar Syndrome	Hematemesis, Mild hearing impairment, Partial anomalous pulmonary venous return, Vertigo, Patent ...	OMIM:301068
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Leprosy	Loss of eyelashes, Autoamputation of digits, Absent eyebrow, Sparse body hair, Epistaxis, Alopecia	ORPHA:548
Familial Bicuspid Aortic Valve	Thoracic aorta calcification, Coarctation of aorta, Aortic arch aneurysm, Ascending aortic dissec...	ORPHA:402075
Ehlers-Danlos Syndrome, Vascular Type	Dermal translucency, Osteolytic defects of the phalanges of the hand, Metacarpophalangeal joint h...	OMIM:130050
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Native American Myopathy	Talipes equinovarus, Camptodactyly	ORPHA:168572
Alstrom Syndrome	Polydactyly, Hyperostosis frontalis interna, Nephritis, Pes planus, Renal insufficiency, Tubuloin...	OMIM:203800
Ectodermal Dysplasia And Immunodeficiency 1	Aplasia of the eccrine sweat glands, Sparse hair	OMIM:300291
Primrose Syndrome	Superiorly displaced ears, Dystrophic fingernails, Genu valgum, Narrow iliac wing, Sparse scalp h...	OMIM:259050
Intellectual Developmental Disorder, Autosomal Dominant 54	Thin nail, Sparse hair	OMIM:617799
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Atrioventricular canal defect, Hypertension, Pleural effusion, Pulmonary ar...	OMIM:619573
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	High anterior hairline, Patent foramen ovale, Aspiration pneumonia, Pulmonic stenosis, Abnormal h...	ORPHA:438213
Full Nf2-Related Schwannomatosis	Hydrocephalus, Myelopathy, Remnants of the hyaloid vascular system	ORPHA:637
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cerebral atrophy, Nephrocalcinosis, Aminoaciduria, Communicating hydrocephalus	OMIM:616084
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Microphthalmia, Genu valgum, Camptodactyly of finger, Finger swelling, Hip disloc...	OMIM:309000
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Cortical thickening of long bone diaphyses, Thin long bone diaphyses, S...	ORPHA:93325
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Hydrocephalus, Vesicour...	ORPHA:322
Combined Oxidative Phosphorylation Deficiency 3	Death in childhood, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Death in infanc...	OMIM:610505
Gaucher Disease, Type Iiic	Hydrocephalus, Pes cavus	OMIM:231005
Steinert Myotonic Dystrophy	Shoulder girdle muscle weakness, Cerebral cortical atrophy, Abnormal cerebral white matter morpho...	ORPHA:273
Neurofibromatosis Type 1	Genu valgum, Abnormal hip bone morphology, Slender long bone, Hydrocephalus, Chorioretinal colobo...	ORPHA:636
Cystinosis, Nephropathic	Genu valgum, Hypopigmentation of hair, Hypopigmentation of the skin, Metaphyseal widening, Retina...	OMIM:219800
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear	ORPHA:314647
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Neurogenic bladder, Epistaxis	ORPHA:137667
Medulloblastoma	Hydrocephalus	ORPHA:616
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Plagiocephaly, Hip contracture, Narrow iliac wing	ORPHA:3042
Mucopolysaccharidosis Type 2	Wide nose, Communicating hydrocephalus, Umbilical hernia, Hip dysplasia, Wide nasal bridge, Recur...	ORPHA:580
Arima Syndrome	Hypertension, Occipital meningocele, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:243910
Holoprosencephaly 1	Microphthalmia, Single ventricle, Ethmocephaly, Alobar holoprosencephaly	OMIM:236100
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Anomalous origin of right pulmonary artery from ...	OMIM:610338
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Ascendi...	ORPHA:141127
Cryptococcosis	Hydrocephalus, Cerebral cortical atrophy, Cerebral edema	ORPHA:1546
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Enlarged kidney	OMIM:261740
Lymphangioleiomyomatosis	Hematuria, Hydrocephalus, Multiple renal cysts, Abnormal urinary color, Renal angiomyolipoma	ORPHA:538
Feingold Syndrome Type 1	Interrupted aortic arch, Patent ductus arteriosus	ORPHA:391641
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Diphallia	Atrial septal defect, Abnormal heart morphology, Absent thumb, Abnormal pubic bone morphology	ORPHA:227
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Congestive heart failure, Patent foramen ovale, Pulmonary arterial hypertension, Renovascular hyp...	ORPHA:391487
Tuberous Sclerosis Complex	Subependymal nodules, Cortical dysplasia, Polycystic kidney dysplasia, Renal cyst, Cortical tuber...	ORPHA:805
Meningioma	Hydrocephalus, Urinary incontinence, Abnormality of the sense of smell	ORPHA:2495
Holoprosencephaly 2	Semilobar holoprosencephaly, Microphthalmia, Alobar holoprosencephaly, Holoprosencephaly, Single ...	OMIM:157170
Gaucher Disease	Hematuria, Hydrocephalus, Death in infancy, Proteinuria, Ventriculomegaly	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	Sensorineural hearing impairment, Patent foramen ovale, Tetralogy of Fallot, Ventricular septal d...	OMIM:618748
1P21.3 Microdeletion Syndrome	Short nose, Broad nasal tip	ORPHA:293948
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse body hair, Sparse pubic hair, Sparse axillary hair	ORPHA:90796
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Hypertension, Thick eyebrow	OMIM:300896
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Hypothyroidism, Congenital, Nongoitrous, 5	Patent foramen ovale, Mitral regurgitation	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

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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

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