Not currently registered for phenotyping at IMPC

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

Gene Summary


IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Fign 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
Matching phenotypes Source
Cleft palate OMIM:119550
Torus Palatinus And Torus Mandibularis
Torus palatinus OMIM:189700
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Cleft Soft Palate
Cleft soft palate OMIM:119570
Uvula, Bifid
Bifid uvula OMIM:192100
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Optic... ORPHA:363417
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Abnormal lacrimal duct morphology, Abnormal pinna morphology, Absent thumb, H... ORPHA:2363
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Bilateral conductive hearing impairment, Symphalangis... OMIM:186500
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Kid Syndrome
Keratitis, Sparse hair, Sparse eyebrow, Acne inversa, Knee pain, Punctate keratitis, Severe senso... ORPHA:477
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the radius, 2-3 finger syndactyly, Absent lacrimal punctum, Radial deviation of the... OMIM:149730
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Hypoplasia of the semicircular canal, Dilated vestibule of the ... OMIM:611584
Microphthalmia With Limb Anomalies
Hydrocephalus, True anophthalmia, Abnormality of the upper limb, Optic atrophy, Hypoplasia of the... ORPHA:1106
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Optic atrophy, Synophrys, Cl... OMIM:605282
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Nail-Patella Syndrome
Microcornea, Glenoid fossa hypoplasia, Hypoplastic radial head, Biceps aplasia, Keratoconus, Cata... OMIM:161200
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Cataract 11, Multiple Types
Hypertonia, Chorea, Microphthalmia OMIM:610623
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Hydrocephalus, Downslanted palpebral fissures, Cataract, Bowing of the... ORPHA:90652
Cofs Syndrome
Sensorineural hearing impairment, Joint stiffness, Hypertonia, Abnormality of retinal pigmentatio... ORPHA:1466
Cockayne Syndrome Type 2
Intrauterine growth retardation, Ataxia, Hypoplasia of the primary teeth, Conjunctivitis, Flexion... ORPHA:90322
Oculoauricular Syndrome
Morning glory anomaly, Microcornea, Cataract, Iris cyst, Microphthalmia, Microphakia, Retinal det... OMIM:612109
Pierpont Syndrome
Prominent fingertip pads, Microcornea, Microphthalmia, Hypertonia, Decreased body weight, Deep pl... OMIM:602342
Sheldon-Hall Syndrome
Joint stiffness, Protruding ear, Adducted thumb, Abnormal hip bone morphology, Micrognathia, Shor... ORPHA:1147
Crouzon Syndrome
Conductive hearing impairment, Hydrocephalus, Cerebellar hypoplasia, Optic atrophy, Iris coloboma... ORPHA:207
Warburg Micro Syndrome 1
Low-set ears, Failure to thrive, Overlapping toe, Hypertrichosis, Joint hypermobility, Microphtha... OMIM:600118
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Failure to thrive, Microphthalmia, Small for gestatio... ORPHA:1617
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Disproportionate short-trunk short stature, Catar... ORPHA:485
Xeroderma Pigmentosum, Complementation Group D
Sensorineural hearing impairment, Keratitis, Ataxia, Ectropion, Microphthalmia, Telangiectasia, C... OMIM:278730
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Abnormality of femur morphology, Microtia, Micrognathia, Abnormality of the parathy... ORPHA:3429
Spondylo-Ocular Syndrome
Abnormal antihelix morphology, Abnormal eyebrow morphology, Short stature, Retinal detachment, Jo... ORPHA:85194
Distal Limb Deficiencies-Micrognathia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Microretrognathia, Abnormal morp... ORPHA:1307
Zika Virus Disease
Intrauterine growth retardation, Absent foveal reflex, Lens subluxation, Skin rash, Retinal pigme... ORPHA:448237
Noonan Syndrome
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Aplasia of the semicircular can... ORPHA:648
Gómez-López-Hernández Syndrome
Ataxia, Hydrocephalus, Corneal opacity, Abnormal cerebellum morphology, Short stature, Telecanthu... ORPHA:1532
Muenke Syndrome
Sensorineural hearing impairment, Carpal synostosis, Hydrocephalus, Malar flattening, Coronal cra... ORPHA:53271
Pierpont Syndrome
Prominent fingertip pads, Microcornea, Microphthalmia, Deep palmar crease, Pes planus, Joint laxi... ORPHA:487825
Humero-Radial Synostosis
Aplasia/Hypoplasia affecting the eye, Elbow ankylosis, Abnormality of the wrist, Iris coloboma, M... ORPHA:3265
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Multiple joint contractures, Retinal degeneration, Macular degeneration, Craniosynostosis, Osteop... ORPHA:33364
Cockayne Syndrome Type 1
Ataxia, Optic atrophy, Tremor, Difficulty walking, Uveitis, Cataract, Foot joint contracture, Man... ORPHA:90321
Proximal Symphalangism
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly ... ORPHA:3250
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Brachydactyly, Enamel hypoplas... OMIM:263540
Brachydactyly, Type B2
Sensorineural hearing impairment, Carpal synostosis, Short distal phalanx of finger, Aplasia/Hypo... OMIM:611377
Mucolipidosis Type Iii
Joint stiffness, Corneal opacity, Large iliac wing, Abnormal hip bone morphology, Reduced bone mi... ORPHA:577
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Microphthalmia OMIM:615771
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Delayed eruption of... OMIM:305620
Tarsal-Carpal Coalition Syndrome
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... OMIM:186570
Cleft Palate, Isolated
Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Harel-Yoon Syndrome
Ataxia, Inability to walk, Corneal opacity, Upslanted palpebral fissure, Micrognathia, Talipes eq... OMIM:617183
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Congenital hip dislocation, Chorea, Athetosis, Optic atrophy, Optic disc pallo... ORPHA:404454
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Corneal opacity, Clinodactyly of the 5th finger, Reduced bone mi... ORPHA:2370
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Dysmetria, Short stature, Intention tremor, Micrognathia, Camptodactyly of finger, Abnorm... ORPHA:48431
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Microphthalmia, Micrognathia, Arthrogryposis multiplex congenita, Rocker bot... OMIM:616570
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Macular hypoplasia, Opacification... ORPHA:2334
Bartsocas-Papas Syndrome 2
Corneal opacity, Wide anterior fontanel, Microphthalmia, Ankyloblepharon, 2-5 finger cutaneous sy... OMIM:619339
Charge Syndrome
Aplasia of the semicircular canal, Down-sloping shoulders, Downslanted palpebral fissures, Hypopl... OMIM:214800
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Severe short-limb dwarfism, Bilateral single transverse palmar creases, Brachyda... ORPHA:968
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Retrognathia, Short stature, Microcornea, Progressive spasticity, Ep... ORPHA:2528
Multiple Epiphyseal Dysplasia Type 4
Abnormal pinna morphology, Accelerated skeletal maturation, Short metacarpal, Arthralgia of the h... ORPHA:93307
Nanophthalmos 4
Microphthalmia OMIM:615972
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Micromelia, Abnormality of the ankles, Abnormality of the humeru... ORPHA:2496
Distal Monosomy 10Q
Ataxia, Prominent fingertip pads, Craniosynostosis, Tapered finger, Downslanted palpebral fissure... ORPHA:96148
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Clinodactyly of the 5th finger, Abnormality of cartilage of external ear, Sparse... ORPHA:2399
Frontonasal Dysplasia 1
Conductive hearing impairment, Coloboma, Microphthalmia, Joint contracture of the hand, Brachydac... OMIM:136760
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Short stature, Aplasia/Hypoplasia of t... ORPHA:2639
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Craniosynostosis, Short stature, Low-set, ... OMIM:178110
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Genu recurvatum, Pes planus, Narrow palpebral fissure, Cataract, Joint laxity, Bilateral micropht... OMIM:608763
Otodental Syndrome
Periodontitis, Taurodontia, Microphthalmia, Otitis media with effusion, Retinal coloboma, Abnorma... ORPHA:2791
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankles, Telecanthu... ORPHA:2010
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Micrognathia, Retinopathy, Macular atrophy, Microcornea, Optic atrophy, Optic disc... OMIM:616171
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Abnormal lacrimal duct morphology, Female infertility, Streak ovary, Hypergonadotropic hypogonadi... ORPHA:572333
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Retrognathia, Micrognathia, P... ORPHA:2756
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Oral synechia, Cleft palate, Everted lower lip vermilion ORPHA:2016
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... OMIM:112910
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Metaphyseal dysplasia, Lens subluxation, Short stature, Retinal detachment, Ir... OMIM:157151
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, 2-3 toe syndactyly, Joint contracture of the 4th finger, Retrognath... OMIM:618914
Orofaciodigital Syndrome Type 1
Ataxia, Sparse hair, Alopecia, Cone-shaped epiphysis, Coarse hair, Downslanted palpebral fissures... ORPHA:2750
Hearing impairment, Corneal opacity, Cherry red spot of the macula ORPHA:351
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Genu varum, Telecanthus, ... ORPHA:1777
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Ectropion, Thick eyebrow, Microtia, Micrognathia, Long palpebral fiss... OMIM:602562
22Q11.2 Deletion Syndrome
Cholelithiasis, Hydrocephalus, Overfolded helix, Carious teeth, Downslanted palpebral fissures, O... ORPHA:567
Erythrokeratodermia Variabilis
Protruding ear, Corneal opacity, Generalized hirsutism, Skin rash, Alopecia, Short stature, Brach... ORPHA:317
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Dysplasia Epiphysealis Hemimelica
Recurrent fractures, Joint stiffness, Abnormality of femur morphology, Abnormal femoral neck morp... ORPHA:1822
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Spondylocarpotarsal Synostosis Syndrome
Disproportionate short-trunk short stature, Cataract, Block vertebrae, Delayed skeletal maturatio... OMIM:272460
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Short stature, Micrognathia, Wide capital... OMIM:147891
Avascular necrosis, Dental malocclusion, Corneal opacity, Abnormal helix morphology, Chronic otit... ORPHA:61
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Upslanted palpebral fissure, Micrognathia, Long palpebral fissure, Down-sloping s... OMIM:619694
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Thin upper... OMIM:226440
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Abnormal pinna morphology, Hydrocephalus, Elbow ankylosis, Cranios... ORPHA:95699
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hydrocephalus, Ovarian neoplasm,... ORPHA:87
Muckle-Wells Syndrome
Short stature, Maculopapular exanthema, Polyarticular arthritis, Recurrent aphthous stomatitis, C... OMIM:191900
Dermatoosteolysis, Kirghizian Type
Keratitis, Abnormality of the hand, Osteoarthritis, Brachydactyly, Abnormality of the wrist, Oste... ORPHA:1657
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Aplasia/Hypoplasia of the mid... OMIM:185800
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Arachnodactyly, Retinal detac... ORPHA:171844
Winchester Syndrome
Broad metacarpals, Corneal opacity, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolys... OMIM:277950
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Intrauterine growth retardation, Failure to thrive in infancy, Hypertonia, De... OMIM:610758
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Corneal opacity, Upslanted palpebral fissure, Micrognathia, Optic nerve hypoplasia, Optic atrophy... ORPHA:496790
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Corneal neovascularization, Polyarticular arthritis, Palmoplantar hyperkeratos... OMIM:617388
Cerebrooculofacioskeletal Syndrome 1
Abnormality of the ear, Delayed eruption of teeth, Carious teeth, Cataract, Rocker bottom foot, M... OMIM:214150
Joubert Syndrome 14
Ataxia, Hydrocephalus, Malar flattening, Postaxial polydactyly, Encephalocele, Morning glory anom... OMIM:614424
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Brachydactyly, Syndactyly, Coloboma, Peters anomaly, Iris coloboma, Clinodactyly, ... OMIM:610023
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... ORPHA:2098
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Abnormality of the humeru... ORPHA:1836
20P13 Microdeletion Syndrome
Abnormal pinna morphology, Decreased body weight, Wide anterior fontanel, Retinopathy, Brachydact... ORPHA:313781
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Corneal opacity, Retinal detachment, Posterior embryotoxon, Opt... ORPHA:1473
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Short toe, Decreased body weight, Short stature, Retrognathia, Eczema, Epicanthus, Hearing impair... OMIM:612947
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Microphthalmia, Sparse eyebrow, Cupped ear, Absent lacrimal punct... OMIM:167730
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Inability to walk, Ulnar deviation of the hand, Wrist pain, Metatarsal osteolysi... OMIM:166300
Muckle-Wells Syndrome
Skin rash, Short stature, Pes cavus, Camptodactyly of finger, Vasculitis, Arthritis, Optic atroph... ORPHA:575
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Ataxia, Corneal opacity, Progressive cerebellar ataxia, Corneal dystrophy, Upper motor neuron dys... ORPHA:3177
Autism Spectrum Disorder Due To Auts2 Deficiency
Decreased palmar creases, Eczema, Narrow palm, Spasticity, Hypertonia, Short palpebral fissure, R... ORPHA:352490
De Sanctis-Cacchione Syndrome
Sensorineural hearing impairment, Keratitis, Ataxia, Ectropion, Hypertonia, Severe short stature,... OMIM:278800
Pseudohypoparathyroidism Type 1A
Band keratopathy, Laryngeal dystonia, Hypergonadotropic hypogonadism, Delayed eruption of teeth, ... ORPHA:79443
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Decreased response to growth hormone stimulation test, Increased bone miner... ORPHA:94089
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Arthritis, Pneumonia, Failure to thrive secon... OMIM:601457
Norrie Disease
Abnormal helix morphology, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Erectile dysfunct... ORPHA:649
Chromosome 3Pter-P25 Deletion Syndrome
Overfolded helix, Tapered finger, Spasticity, Intrauterine growth retardation, Postaxial polydact... OMIM:613792
Microphthalmia With Limb Anomalies
Downslanted palpebral fissures, Single transverse palmar crease, Sandal gap, Microphthalmia, Tali... OMIM:206920
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Loss of ambulation, Abnormal femoral neck/head morphology, Microphthalmia, Exuda... ORPHA:2788
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity, Microphthalmia OMIM:278780
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Protruding ear, Corneal opacity, Upslanted palpebral fissure, Myopic astigmatism, Retinal detachm... OMIM:152950
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyl... ORPHA:2741
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Blepharitis, Conductive hearing impairment, 2-3 toe syndactyly, Lacrimal duct atresia, Ankyloblep... OMIM:106260
Mend Syndrome
Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Microretrognathia, Cryptorchidism, Hypertonia... OMIM:300960
Warburg-Cinotti Syndrome
Conductive hearing impairment, Joint swelling, Flexion contracture of finger, Ankle flexion contr... OMIM:618175
Gombo Syndrome
Microphthalmia OMIM:233270
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Telangiectasia of the skin, Hydrocephalus, Osteopenia, Congenital hip dislocation, Tapered finger... OMIM:616007
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyelash... OMIM:234050
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Short 1st metacarpal, Primary amenorrhea, Hypoplasia of the ulna,... OMIM:609441
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... ORPHA:98807
Short Syndrome
Sensorineural hearing impairment, Short palm, Corneal opacity, Abnormal pupil morphology, Sparse ... ORPHA:3163
Moebius Syndrome
Abnormal pinna morphology, Microphthalmia, Hand clenching, Talipes equinovarus, Poor coordination... OMIM:157900
Dextrocardia With Unusual Facies And Microphthalmia
Choreoathetosis, Anophthalmia, Macrotia, Microphthalmia OMIM:221950
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Jackson-Weiss Syndrome
2-3 toe syndactyly, Malar flattening, Craniosynostosis, Broad hallux, Broad metatarsal, Hallux va... OMIM:123150
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Talipes equinovalgus, Downslanted palpebral fissures, Rocker bottom foot, Intra... OMIM:301056
Poikiloderma With Neutropenia
Sparse eyebrow, Carious teeth, Sparse lateral eyebrow, Blepharitis, Joint stiffness, Retrognathia... OMIM:604173
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Congenital Rubella Syndrome
Sensorineural hearing impairment, Corneal opacity, Abnormality of retinal pigmentation, Skin rash... ORPHA:290
Gm1 Gangliosidosis
Ataxia, Optic atrophy, Tremor, Abnormal epiphysis morphology, Spasticity, Unsteady gait, Abnormal... ORPHA:354
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Fused cervical vertebrae, Tar... OMIM:618469
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Upslanted palpebral fissure, Retrognathi... OMIM:619092
Rubinstein-Taybi Syndrome
Carious teeth, Downslanted palpebral fissures, Failure to thrive in infancy, Clinodactyly of the ... ORPHA:783
Cat-Eye Syndrome
Intrauterine growth retardation, Short stature, Downslanted palpebral fissures, Iris coloboma, Mi... ORPHA:195
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Dental malocclusion, Low-set ears, Microretrognathia, Cupped ear, Mixed hearing impairment, Down-... OMIM:615560
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Genu valgum, Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Fryns Microphthalmia Syndrome
Abnormality of the ear, Macrotia, Anophthalmia, Microphthalmia OMIM:600776
Autosomal Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear m... ORPHA:33110
Adams-Oliver Syndrome 2
Protruding ear, Low anterior hairline, Micrognathia, Cerebellar hypoplasia, Single transverse pal... OMIM:614219
X-Linked Agammaglobulinemia
Sensorineural hearing impairment, Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Alopeci... ORPHA:47
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Angulated antihelix, Microphthalmia, Small for gestational age, ... OMIM:618804
Orofaciodigital Syndrome Vi
Conductive hearing impairment, Failure to thrive, Mesoaxial hand polydactyly, Postaxial polydacty... OMIM:277170
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Sialidosis Type 2
Ataxia, Corneal opacity, Flexion contracture, Short stature, Abnormal macular morphology, Osteopo... ORPHA:87876
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... ORPHA:70476
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Sparse hair, Small for gestational age, Micrognathia, Camptodactyly of finger, Ca... OMIM:610756
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Microcornea, Radioulnar synostosis, Hammertoe, Genu valgum, Cataract, ... ORPHA:2712
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Delayed eruption of teeth, Microcornea, Downs... OMIM:257850
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Micrognathia, Broad eyebrow, Hip dysplasia, Low-set, posteriorly... ORPHA:494344
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Blepharitis, Folliculitis, Sparse eyebrow, Sparse eyelashes, Alopecia, Carious teeth, ... OMIM:612843
Martsolf Syndrome 1
Finger joint hypermobility, Broad fingertip, Downslanted palpebral fissures, Hypoplasia of the ma... OMIM:212720
Warburg Micro Syndrome 3
Hypertrichosis, Clinodactyly of the 5th finger, Shallow anterior chamber, Low anterior hairline, ... OMIM:614222
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Overlapping toe, Abnormal pinna morphology, Poor eye contact, Talipes equinovar... OMIM:617807
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Corneal opacity, Upslanted palpebral fissure, Aplasia/Hypop... ORPHA:1794
48,Xxyy Syndrome
Ataxia, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Carious teeth, Radioulnar syno... ORPHA:10
Carpenter Syndrome 1
Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, Microcornea, O... OMIM:201000
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Hydrocephalus, Facial hirsutism, Microcornea, Absent proximal finger f... ORPHA:2839
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... OMIM:301940
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... OMIM:612961
Crouzon Syndrome
Keratitis, Conductive hearing impairment, Coronal craniosynostosis, Shallow orbits, Atresia of th... OMIM:123500
Cohen Syndrome
Tapered finger, Narrow palm, Downslanted palpebral fissures, Optic atrophy, Genu valgum, Long eye... ORPHA:193
Baraitser-Winter Syndrome 1
Sensorineural hearing impairment, Low-set ears, Failure to thrive, Aortic valve stenosis, Short s... OMIM:243310
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Gait imbalance, Ataxia, Sparse hair, Osteopenia, Eczema, Downslanted palpebral fissures, Tremor, ... OMIM:300966
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Hydrocephalus, Absent radius, Preaxial hand polydactyly,... ORPHA:2378
Bardet-Biedl Syndrome 5
Macular dystrophy, Rod-cone dystrophy, Syndactyly, Brachydactyly, Polydactyly, Hypogonadism, Obesity OMIM:615983
Multiple Epiphyseal Dysplasia, Beighton Type
Retinal thinning, Arthralgia of the hip, Genu valgum, Pedal edema, Cataract, Knee pain, Double-la... ORPHA:166011
Dermatitis, Atopic
Recurrent skin infections, Eczema, Atopic dermatitis, Allergic rhinitis, Keratoconus, Cataract, C... OMIM:603165
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Corneal opacity, Hydrocephalus, Aplasia/Hypoplasia of the distal ... ORPHA:1647
Sponastrime Dysplasia
Hypoplasia of the nasal bone, Genu valgum, Rhizomelia, Cataract, Small epiphyses, Hip subluxation... ORPHA:93357
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Congenital Sialidosis Type 2
Telangiectasia, Ataxia, Corneal opacity, Hydrocephalus, Dysmetria, Cherry red spot of the macula,... ORPHA:93400
Nievergelt Syndrome
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... OMIM:163400
Fontaine Progeroid Syndrome
Absent nipple, Hydrocephalus, Hypertrichosis, Craniosynostosis, Coarse hair, Downslanted palpebra... OMIM:612289
Trisomy 13
Abnormal antihelix morphology, Abnormal helix morphology, Optic atrophy, Cataract, Microphthalmia... ORPHA:3378
Fatco Syndrome
Absent hand, Short stature, Abnormality of tibia morphology, Abnormality of fibula morphology, Ta... ORPHA:2492
Cousin Syndrome
Hydrocephalus, Facial hirsutism, Microtia, first degree, Microcornea, Rhizomelia, Absent proximal... OMIM:260660
Arboleda-Tham Syndrome
Gait imbalance, Craniosynostosis, Sparse medial eyebrow, Underdeveloped tragus, Hammertoe, Optic ... OMIM:616268
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Corneal opacity, Microcornea, Microphthalmia ORPHA:2432
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ataxia, Athetosis, Cataract, Spasticity, Choroideremia, Abnormal pyramidal sign, Spastic tetraple... ORPHA:2719
Arthrogryposis, Distal, Type 1A
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Calcaneovalgus d... OMIM:108120
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Wide anterior fontanel, Absent eyebrow, Malar flattening, Coronal craniosynostosis, Micrognathia,... ORPHA:85199
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Abnormal eyelid morphology, Impaired vibration sensation in the lower li... ORPHA:251282
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Short stature, Low-... ORPHA:2725
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal femoral neck/head morphology, Abnormal bone ossification, Wide anterior fontanel, Slende... ORPHA:163649
Igg4-Related Ophthalmic Disease
Keratitis, Pancreatitis, Abnormal morphology of bony orbit of skull, Enlarged lacrimal glands, Ab... ORPHA:449563
Hypocomplementemic Urticarial Vasculitis
Sensorineural hearing impairment, Ataxia, Joint dislocation, Hemiplegia/hemiparesis, Skin rash, C... ORPHA:36412
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Aplasia/Hypoplasia of the cere... ORPHA:231169
Orofaciodigital Syndrome X
Hand oligodactyly, Retrognathia, Telecanthus, Coalescence of tarsal bones, Fibular aplasia, Preax... OMIM:165590
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Attenuation of retinal blood vessels, Polydactyly, Bone spicule pigmentation ... OMIM:615990
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... ORPHA:957
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Protruding ear, Thick eyebrow, Postnatal growth retardation, Micrognathia, Spastic diplegia, Chro... ORPHA:480907
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
De Barsy Syndrome
Progressive cerebellar ataxia, Sparse hair, Osteopenia, Congenital hip dislocation, Delayed erupt... ORPHA:2962
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism, Polydactyly, Retinopathy OMIM:615988
Pseudohypoparathyroidism Type 1C
Laryngeal dystonia, Hypergonadotropic hypogonadism, Delayed eruption of teeth, Short 3rd metacarp... ORPHA:79444
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... OMIM:610017
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Gorham-Stout Disease
Bone pain, Mandibular pain, Abnormality of femur morphology, Abnormality of finger, Osteomyelitis... ORPHA:73
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Upper limb phocomelia, Small for gestational age, Syndactyly, Polyd... ORPHA:294975
Chromosome 16Q22 Deletion Syndrome
Sensorineural hearing impairment, Low-set ears, Failure to thrive, Growth delay, Wide anterior fo... OMIM:614541
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Overlapping toe, Protruding ear, Inability to walk, Microretrognathia, Short stature, Retinal col... OMIM:618571
8Q21.11 Microdeletion Syndrome
Low-set ears, Corneal opacity, Finger syndactyly, Micrognathia, Camptodactyly of finger, Eczema, ... ORPHA:284160
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent pneumonia, Conjunctivitis, Recurrent otitis media OMIM:612692
Pendred Syndrome
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... ORPHA:705
Jacobsen Syndrome
Hydrocephalus, Microcornea, Optic atrophy, Spasticity, Microphthalmia, Intrauterine growth retard... OMIM:147791
Christianson Syndrome
Motor stereotypy, Thick eyebrow, Adducted thumb, Cachexia, Truncal ataxia, Aplasia/Hypoplasia of ... ORPHA:85278
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Conjunctivitis, Recurrent otitis media OMIM:613493
Joubert Syndrome 10
Hirsutism, Rod-cone dystrophy, Postaxial polydactyly, Downslanted palpebral fissures, Epicanthus,... OMIM:300804
Bardet-Biedl Syndrome 12
Obesity, Polydactyly, Rod-cone dystrophy, Hypogonadism OMIM:615989
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ataxia, Horizontal eyebrow, Mandibular prognathia, Overfriendliness, Spastic paraparesis, Abnorma... ORPHA:369891
Usmani-Riazuddin Syndrome, Autosomal Recessive
Epicanthus, Joint laxity, Spasticity, Low-set ears, Posteriorly rotated ears, Conjunctival hyperemia OMIM:619548
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Intellectual Developmental Disorder, Autosomal Dominant 23
Low anterior hairline, Upslanted palpebral fissure, Postaxial polydactyly, Micrognathia, Broad di... OMIM:615761
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Ptosis ORPHA:2064
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, C1-C2 subluxation, Thin metacarpal cortices, Hypoplasia of... OMIM:259600
Episodic Ataxia Type 4
Ataxia, Frequent falls, Vertigo, Abnormal head movements, Incoordination ORPHA:79136
Cri-Du-Chat Syndrome
Abnormal pinna morphology, Downslanted palpebral fissures, Single transverse palmar crease, Diffi... OMIM:123450
Cockayne Syndrome
Corneal ulceration, Ataxia, Inability to walk, Band keratopathy, Retinal degeneration, Limb hyper... ORPHA:191
Incontinentia Pigmenti
Keratitis, Telangiectasia of the skin, Alopecia, Delayed eruption of teeth, Abnormal hand morphol... ORPHA:464
Microphthalmia, Syndromic 13
Abnormal pinna morphology, Short stature, Microcornea, Coloboma, Microphthalmia, Anteverted ears,... OMIM:300915
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Multiple Synostoses Syndrome 4
Otosclerosis, Overlapping toe, Brachydactyly, Pes planus, Tarsal synostosis, Broad foot OMIM:617898
Talonavicular Coalition
Clinodactyly of the 5th finger, Abnormality of the ankles, Short hallux, Coalescence of tarsal bo... OMIM:186750
3P25.3 Microdeletion Syndrome
Ataxia, 2-3 finger syndactyly, Tapered finger, Downslanted palpebral fissures, Broad hallux, Micr... ORPHA:435638
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Zellweger Syndrome
Sensorineural hearing impairment, Failure to thrive, Corneal opacity, Wide anterior fontanel, Ups... ORPHA:912
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Delayed skeletal maturation, Carpal synostosis, Congenital sensorineural h... OMIM:157800
Mucopolysaccharidosis Type 1
Hydrocephalus, Optic atrophy, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Join... ORPHA:579
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Skin Creases, Congenital Symmetric Circumferential, 2
Low-set ears, Short palpebral fissure, Upslanted palpebral fissure, Microtia, Micrognathia, Short... OMIM:616734
Palmoplantar Carcinoma, Multiple Self-Healing
Finger joint hypermobility, Corneal neovascularization, Limbal stem cell deficiency, Nail dystrop... OMIM:615225
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia With Brain And Digit Anomalies
Sensorineural hearing impairment, Finger syndactyly, Anophthalmia, Microcornea, Inferior cerebell... ORPHA:139471
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Long philtrum, Bifid uvula OMIM:615942
Immunodeficiency, Common Variable, 1
Recurrent sinusitis, Recurrent pneumonia, Pneumonia, Recurrent otitis media, Bronchiectasis, Conj... OMIM:607594
Waardenburg Syndrome, Type 4C
Sensorineural hearing impairment, Premature graying of hair, Blue irides, Lacrimal gland hypoplas... OMIM:613266
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Familial Cold Urticaria
Sensorineural hearing impairment, Conjunctivitis, Dysesthesia, Arthritis ORPHA:47045
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Flexion contracture, Difficulty walking, Cataract, Spasticity OMIM:617393
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Immunodeficiency, Common Variable, 2
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis, Conjunctivitis OMIM:240500
Laurence-Moon Syndrome
Sensorineural hearing impairment, Ataxia, Short stature, Brachydactyly, Low-set, posteriorly rota... ORPHA:2377
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Polydactyly, Retinal dystrophy, Hypogonadism, Obesity OMIM:615987
Clouston Syndrome
Blepharitis, Sparse eyebrow, Sparse eyelashes, Alopecia, Abnormality of the hand, Brittle hair, S... OMIM:129500
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Lim... ORPHA:3269
Synostoses, Tarsal, Carpal, And Digital
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Rad... OMIM:186400
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Malar flattening, Postaxial polydactyly, Rod-cone dystrophy, Polydactyly, Cli... OMIM:615984
Refsum Disease
Sensorineural hearing impairment, Ataxia, Abnormality of retinal pigmentation, Hemiplegia/hemipar... ORPHA:773
Stickler Syndrome Type 2
Sensorineural hearing impairment, Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abn... ORPHA:90654
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Rhizomelia, Abnormal epiphysis morphology, Cataract, Bowing of the long bones, Micr... ORPHA:93267
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Genu recurvatum, Generalized joint laxity, Short stature, Babinski sign, Spasti... ORPHA:280763
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Retinal thinning, Rhizomelia, Abnormal epiphysis morphology, Bowing of the long... ORPHA:85167
Mucoepithelial Dysplasia, Hereditary
Melena, Alopecia, Corneal neovascularization, Coarse hair, Keratoconjunctivitis, Opacification of... OMIM:158310
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Protruding ear, Talipes equinovarus, Postnatal growth retardation, Adducted thum... OMIM:616603
Acrootoocular Syndrome
Decreased palmar creases, Cutaneous syndactyly, Delayed eruption of teeth, Pseudopapilledema, Dow... ORPHA:2980
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Mucolipidosis Iv
Corneal opacity, Retinal degeneration, Babinski sign, Opacification of the corneal stroma, Optic ... OMIM:252650
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Clinodactyly of the 5th finger, Small for gestational age, T... OMIM:609425
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse eyebrow, Tapered finger, Long eyelashes, Delayed skeletal maturation, Overfriendliness, Sh... OMIM:619293
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Lacrimal duct atresia, Camptodactyly of finger, Ulnar deviation... ORPHA:1529
Nance-Horan Syndrome
Protruding ear, Supernumerary tooth, Retinal detachment, Microcornea, Cataract, Microphthalmia, M... ORPHA:627
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Sialidosis Type 1
Sensorineural hearing impairment, Ataxia, Corneal opacity, Cherry red spot of the macula, Short s... ORPHA:812
Suleiman-El-Hattab Syndrome
Low-set ears, Protruding ear, Failure to thrive, Thick eyebrow, Microretrognathia, Hirsutism, Ove... OMIM:618950
Lowry-Maclean Syndrome
Hydrocephalus, Craniosynostosis, Osteopenia, Megalocornea, Downslanted palpebral fissures, Single... ORPHA:2409
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Motor stereotypy, Ataxia, Protruding ear, Short stature, Abnorm... ORPHA:2479
Walker-Warburg Syndrome
Hydrocephalus, Abnormal cerebellar vermis morphology, Microcornea, Retinal dystrophy, Optic atrop... ORPHA:899
Trichothiodystrophy 1, Photosensitive
Sparse hair, Microcornea, Cataract, Microphthalmia, Erythroderma, Hypogonadism, Flexion contractu... OMIM:601675
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Ataxia, Cochlear degeneration OMIM:271250
Baraitser-Winter Syndrome 2
Abnormal pinna morphology, Short stature, Retrognathia, Long palpebral fissure, Coloboma, Telecan... OMIM:614583
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Isolated Congenital Alacrima
Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Corneal erosion, Co... ORPHA:91416
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pinna morphology, Sparse hair, Sparse eyebrow, Downslanted palpebral fissures, Rhizomeli... OMIM:302960
Atopic Keratoconjunctivitis
Keratitis, Blepharitis, Corneal opacity, Corneal neovascularization, Chemosis, Loss of eyelashes,... ORPHA:163934
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Cheilitis, Sparse hair, Alopecia, Eczema, Uveitis, Delayed skeletal maturation, Scleri... ORPHA:2273
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Mullegama-Klein-Martinez Syndrome
Sensorineural hearing impairment, Failure to thrive, Clinodactyly of the 5th finger, Low anterior... OMIM:301022
Chromosome 8Q21.11 Deletion Syndrome
Sensorineural hearing impairment, Low-set ears, Protruding ear, Short palpebral fissure, Microgna... OMIM:614230
Rubinstein-Taybi Syndrome 1
Prominent fingertip pads, Facial hypertrichosis, Downslanted palpebral fissures, Single transvers... OMIM:180849
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Osteopenia, Hammertoe, Phalangeal dislocation, Sandal gap, Elbow dislocation, Joint dis... ORPHA:536532
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Talipes equinovalgus, Oste... ORPHA:536471
Weill-Marchesani Syndrome 3
Microspherophakia, Joint stiffness, Shallow anterior chamber, Aortic valve stenosis, Short statur... OMIM:614819
Charge Syndrome
Overfolded helix, Delayed eruption of teeth, Aplasia/Hypoplasia of the cerebellum, Optic atrophy,... ORPHA:138
X-Linked Dominant Chondrodysplasia Punctata
Abnormal pinna morphology, Anterior rib punctate calcifications, Sparse eyebrow, Abnormally ossif... ORPHA:35173
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Scheie Syndrome
Corneal opacity, Aortic valve stenosis, Retinal degeneration, Pes cavus, Genu valgum, Aortic regu... OMIM:607016
Skin rash, Otitis media, Tachycardia, Erythema nodosum, Pneumonia, Cutaneous abscess, Conjunctivi... ORPHA:3392
Transketolase Deficiency
Motor stereotypy, Secondary amenorrhea, Uveitis, Cataract, Seborrheic dermatitis, Proportionate s... ORPHA:488618
Neuroocular Syndrome
Blue irides, Prominent fingertip pads, Microcornea, Tapered finger, Hypoplasia of the fovea, Down... OMIM:619539
Xeroderma Pigmentosum, Complementation Group A
Sensorineural hearing impairment, Keratitis, Ataxia, Ectropion, Choreoathetosis, Spasticity, Entr... OMIM:278700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Hydrocephalus, Low anterior hairline, Retinal detachment, Hypoplasia of the pons... OMIM:613153
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Motor stereotypy, Ataxia, Inability to walk, Decreased body weight, Poor eye co... OMIM:617695
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland hypoplasia, Lacrimal gland aplasia, Absent lacrimal punctum, Carious teeth OMIM:180920
Sjogren-Larsson Syndrome
Flexion contracture, Spastic paraparesis, Macular degeneration, Opacification of the corneal epit... OMIM:270200
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Blepharitis, Ectropion, Folliculitis, Sparse eyebrow, Sparse eyelashes, Corneal dystro... OMIM:308800
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Overlapping toe, Recurrent hand flapping, Malar flattening, Astigmatism, Bilateral ptosis, Low-se... OMIM:620021
Orofaciodigital Syndrome Xvii
Low-set ears, Decreased body weight, Short stature, Retrognathia, Partial duplication of thumb ph... OMIM:617926
Tarsal-Carpal Coalition Syndrome
Short stature, Abnormality of the ankles, Tarsal synostosis ORPHA:1412
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Wide anterior fontanel, Decreased response to growth hormone stimulation test... OMIM:601853
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Corneal opacity, Agenesis of central incisor, Short palpebral fissure, Promine... ORPHA:364577
Waardenburg Syndrome, Type 3
Sensorineural hearing impairment, Carpal synostosis, Premature graying of hair, Blue irides, Join... OMIM:148820
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Iridocyclitis, Chronic active hepatitis, Chronic oral candidi... OMIM:240300
Immunodeficiency, Common Variable, 8, With Autoimmunity
Failure to thrive, Growth delay, Colitis, Atrophic gastritis, Inflammation of the large intestine... OMIM:614700
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Postaxial polydactyly, Irregular menstruation, Brachyda... OMIM:615986
Cockayne Syndrome B
Ataxia, Abnormal pinna morphology, Sparse hair, Dry hair, Microcornea, Carious teeth, Square pelv... OMIM:133540
Mucopolysaccharidosis Type 3
Ataxia, Hydrocephalus, Retinal degeneration, Otitis media, Coarse hair, Optic atrophy, Genu valgu... ORPHA:581
Rothmund-Thomson Syndrome, Type 2
Sparse hair, Sparse eyebrow, Alopecia, Overfolded helix, Congenital hip dislocation, Delayed erup... OMIM:268400
Smith-Magenis Syndrome
Motor stereotypy, Malar flattening, Short stature, Increased body weight, Retinal detachment, Bra... OMIM:182290
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemiplegia, Polycoria, Hydrocephalus, Babinski sign, Microcornea, Spasticity, Limb dystonia, Micr... OMIM:175780
Sanjad-Sakati Syndrome
Hypoparathyroidism, Aplasia/Hypoplasia affecting the eye, Corneal opacity, Severe intrauterine gr... ORPHA:2323
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Sensorineural hearing impairment, Cryptorchidism, Short fourth metatarsal, Retrognathia, Eczema, ... ORPHA:464288
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sensorineural hearing impairment, Failure to thrive, Sparse hair, Alopecia, Short stature, Kerato... OMIM:242150
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Inability to walk, Congenital hip dislocation, Abnormal cerebellar vermis morphology, Ath... ORPHA:357058
Galloway-Mowat Syndrome 1
Ataxia, Slender finger, Optic atrophy, Cataract, Spasticity, Microphthalmia, Hand clenching, Intr... OMIM:251300
Oculodentodigital Dysplasia
Paraparesis, Ataxia, Abnormal pinna morphology, Sparse hair, Dry hair, Microcornea, Carious teeth... OMIM:164200
Mmep Syndrome
Split foot, Triphalangeal thumb, Microphthalmia, Mandibular prognathia, Cryptorchidism ORPHA:3434
Microphthalmia, Syndromic 8
Short palpebral fissure, Split foot, Microcornea, Microphthalmia, Mandibular prognathia, Cryptorc... OMIM:601349
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Clinodactyly of the 5th finger, Ocular albinism, Aplasia/Hypopla... ORPHA:1352
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Slender finger, Sparse hair, Osteopenia, Downslanted palpebral fissures, Broad hallux, Abnormalit... ORPHA:251028
Microphthalmia ORPHA:35612
Severe X-Linked Intellectual Disability, Gustavson Type
Hypertonia, Abnormal pinna morphology, Small for gestational age, Severe postnatal growth retarda... ORPHA:3078
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Downslanted palpebral fissures, Rocker bottom foot, Clinodactyly of the 5th finger... OMIM:612582
Microphthalmia, Lenz Type
Clinodactyly of the 5th finger, Ankyloblepharon, Short stature, Camptodactyly of finger, External... ORPHA:568
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Short palm, Low-set ears, Protruding ear, Sparse eyebrow, Retrognathia, Arachnodactyly, Lacrimal ... ORPHA:73246
Smith-Magenis Syndrome
Microcornea, Mandibular prognathia, Failure to thrive in infancy, Joint stiffness, Clinodactyly o... ORPHA:819
Menkes Disease
Recurrent fractures, Hypertonia, Osteomyelitis, Woolly hair, Sparse hair, Micrognathia, Chondroca... ORPHA:565
Weill-Marchesani Syndrome 2
Shallow orbits, Iridodonesis, Cataract, Hypoplasia of the maxilla, Proportionate short stature, D... OMIM:608328
Ring Chromosome 10 Syndrome
Abnormal antihelix morphology, Large earlobe, Micrognathia, Cachexia, Tapered finger, Downslanted... ORPHA:1438
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Bartsocas-Papas Syndrome
Corneal opacity, Ankyloblepharon, Absent thumb, Aplasia/Hypoplasia of the eyebrow, Micrognathia, ... ORPHA:1234
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Abnormal cerebellar vermis morphology, Downslanted palpebral fissures, Genu va... ORPHA:300570
Mucopolysaccharidosis Type 4
Corneal opacity, Joint dislocation, Reduced bone mineral density, Short stature, Grayish enamel, ... ORPHA:582
Distal Monosomy 6P
Corneal opacity, Clinodactyly of the 5th finger, Talipes equinovarus, Malar flattening, Abnormal ... ORPHA:96125
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Overfolded helix, Hypoplasia of the radius, Hypoplasia of the ulna, Microphthal... OMIM:609945
Acro-Renal-Ocular Syndrome
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Cataract, Sandal gap,... ORPHA:959
Cornelia De Lange Syndrome 5
Long eyelashes, Hypogonadism, Clinodactyly of the 5th finger, Retrognathia, Micrognathia, Decreas... OMIM:300882
Moebius Syndrome
Blepharitis, Corneal opacity, Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal morph... ORPHA:570
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Single transverse palmar crease, Hypogonadism, Delayed skeletal matura... ORPHA:73272
Trisomy 18
Anencephaly, Microcornea, Abnormality of the upper limb, Cataract, Microphthalmia, Delayed skelet... ORPHA:3380
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Increased bone mineral density, Laryngeal dystonia, Autoimmun... ORPHA:36913
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Corneal opacity, Malar flattening, Micrognathia, Downslanted palpebral fissures, Cataract, Decrea... OMIM:612469
Mend Syndrome
Hydrocephalus, Abnormal social behavior, Limb hypertonia, Broad hallux, Cataract, Microphthalmia,... ORPHA:401973
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Dental malocclusion, Short stature, Hallux valgus, Synophrys, Macrotia, Antever... OMIM:615541
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Intent... ORPHA:284289
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Pancreatitis, Limb ataxia, Alopecia, Truncal ataxia, Head tremor, Difficulty walki... ORPHA:412057
Monosomy 18P
Abnormal antihelix morphology, Protruding ear, Microphthalmia, Holoprosencephaly, Alopecia, Micro... ORPHA:1598
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Micrognathia, Short 1s... OMIM:619135
Biemond Syndrome Type 2
Hydrocephalus, Short stature, Preaxial polydactyly, Hypogonadotropic hypogonadism, Coloboma, Dela... ORPHA:141333
Radio-Tartaglia Syndrome
Gait imbalance, Ataxia, Tapered finger, Downslanted palpebral fissures, Tremor, Long eyelashes, L... OMIM:619312
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Mild postnatal growth retardation, Abnormal social behavior, Micrognath... ORPHA:530983
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Sparse hair, Short stature, Microcornea, Keratoconjunctivitis sicca, Cataract, Fi... ORPHA:1806
Cockayne Syndrome Type 3
Corneal ulceration, Retinal degeneration, Mild postnatal growth retardation, Subdural hemorrhage,... ORPHA:90324
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Short stature, Micrognathia, Cerebellar hypoplasia, Metaphyseal cupping of metacar... ORPHA:163966
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Abnormality of the ear, Prominent fingertip pads, Flexion contracture, Retrogn... ORPHA:391372
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Short stature, Micrognathia, Synostosis of carpal bones, Low-set, posteriorly rot... ORPHA:3191
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Ataxia, Abnormal pinna morphology, Small for gestational age, Short stature, Mi... OMIM:614104
Braddock-Carey Syndrome 2
Retrognathia, Atresia of the external auditory canal, Downslanted palpebral fissures, Clinodactyl... OMIM:619981
Trichothiodystrophy 3, Photosensitive
Low-set ears, Failure to thrive, Ectropion, Hypertonia, Brittle hair, Tiger tail banding, Short s... OMIM:616395
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Sensorineural hearing impairment, Abnormal eyebrow morphology, Pili torti, Taurodontia, Abnormal ... ORPHA:3220
Hemiplegia, Skin rash, Anisocoria, Babinski sign, Hemiparesis, Retinal hemorrhage, Tinnitus, Cent... ORPHA:863
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Decreased response to growth hormone stimulation test, Pyoderma, Short st... OMIM:307200
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Protruding ear, Decreased body weight, Clinodactyly of the 5th finger, Small for gestational age,... ORPHA:231140
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Postaxial polydactyly, Poor coordination, Gait disturbance, Impa... ORPHA:544254
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... OMIM:614500
Codas Syndrome
Sensorineural hearing impairment, Short metacarpal, Short stature, Overfolded helix, Congenital h... ORPHA:1458
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Hydrocephalus, Syndactyly, Polydactyly, Downslanted palpebral fissures, Epicanthus... OMIM:602501
Branchio-Oculo-Facial Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Upslanted palpebral fissure, Short stat... ORPHA:1297
2Q31.1 Microdeletion Syndrome
Tapered finger, Optic disc coloboma, Downslanted palpebral fissures, Abnormality of fibula morpho... ORPHA:251014
Multiple Sulfatase Deficiency
Sensorineural hearing impairment, Joint stiffness, Corneal opacity, Hydrocephalus, Thick eyebrow,... ORPHA:585
Marden-Walker Syndrome
Low-set ears, Intrauterine growth retardation, Wide anterior fontanel, Talipes equinovarus, Joint... OMIM:248700
Alpha-Mannosidosis, Infantile Form
Ataxia, Otitis media, Craniosynostosis, Osteopenia, Optic disc pallor, Genu valgum, Osteolysis, C... ORPHA:309282
Micro Syndrome
Joint stiffness, Abnormal cerebellum morphology, Generalized hirsutism, Microphthalmia, Abnormali... ORPHA:2510
Deafness-Hypogonadism Syndrome
Abnormality of the middle ear ossicles, Conductive hearing impairment, Stapes ankylosis, Congenit... ORPHA:90646
Congenital conductive hearing impairment, Basal encephalocele, Microphthalmia, Encephalocele, Cam... ORPHA:391474
Split hand/foot malformation 1 (SHFM1)
Sensorineural hearing impairment, 2-3 toe syndactyly, Split foot, Lacrimal duct aplasia, Split ha... DECIPHER:46
Mucopolysaccharidosis, Type Vii
Sensorineural hearing impairment, Joint stiffness, Corneal opacity, Proximal tapering of metacarp... OMIM:253220
Au-Kline Syndrome
Overlapping toe, Deep plantar creases, Microtia, Craniosynostosis, Deep palmar crease, Long palpe... OMIM:616580
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... ORPHA:83461
Mietens Syndrome
Joint stiffness, Corneal opacity, Clinodactyly of the 5th finger, Coxa vara, Elbow ankylosis, Cox... ORPHA:2557
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Foxg1 Syndrome
Motor stereotypy, Decreased body weight, Inability to walk, Poor eye contact, Short stature, Seve... ORPHA:561854
Focal Dermal Hypoplasia
Telangiectasia of the skin, Alopecia, Hypoplastic pelvis, Abnormal epiphysis morphology, Micropht... ORPHA:2092
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Conductive hearing impairment, Polydactyly, Epicanthus, Hypoplastic ischia, Cryptor... OMIM:616910
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Acitretin/Etretinate Embryopathy
Microtia, Aplasia/hypoplasia involving bones of the lower limbs, Micrognathia, Hypoplasia of the ... ORPHA:40366
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Ectropion, Pustule, Abnormal hip bone morphology, Short stature, Camp... ORPHA:2907
Limb-Mammary Syndrome
Absent nipple, Blepharitis, Protruding ear, Clinodactyly of the 5th finger, Lacrimal duct atresia... ORPHA:69085
Usher Syndrome Type 3
Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, Astigmatism, Iris hypopigmenta... ORPHA:231183
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Multiple Sulfatase Deficiency
Ataxia, Corneal opacity, Hydrocephalus, Retinal degeneration, Short stature, Broad hallux, Broad ... OMIM:272200
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Flexion contracture of finger, Epididymitis, Growth delay, Flexion contracture, I... OMIM:256040
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Intrauterine growth retardation ORPHA:1980
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Inability to walk, Sparse eyebrow, Microcornea, Downslanted palpebral fissures, S... ORPHA:464738
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Abnormal helix morphology, Talipes equinovarus, Joint contracture of the hand,... OMIM:214110
Hallermann-Streiff Syndrome
Sparse hair, Sparse eyebrow, Optic disc coloboma, Downslanted palpebral fissures, Cataract, Decre... OMIM:234100
Fragile X Syndrome
Poor eye contact, Recurrent hand flapping, Metacarpophalangeal joint hyperextensibility, Pes plan... OMIM:300624
Muenke Syndrome
Sensorineural hearing impairment, Dental malocclusion, Cone-shaped epiphyses of the phalanges of ... OMIM:602849
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Reduced bone mineral density, Rhegmatogenous retinal detachment, Peripheral ... ORPHA:891
Glycine Encephalopathy With Normal Serum Glycine
Overlapping toe, Hip contracture, Hypertonia, Talipes equinovarus, Genu recurvatum, Flexion contr... OMIM:617301
Coffin-Siris Syndrome 6
Motor stereotypy, Conductive hearing impairment, Short stature, Retrognathia, Micrognathia, Brach... OMIM:617808
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Bresek Syndrome
Protruding ear, Hydrocephalus, Cryptorchidism, Alopecia, Optic nerve hypoplasia, Postaxial hand p... ORPHA:85284
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Biotinidase Deficiency
Sensorineural hearing impairment, Ataxia, Diffuse cerebellar atrophy, Skin rash, Recurrent skin i... OMIM:253260
Hartsfield Syndrome
Intrauterine growth retardation, Craniosynostosis, Low-set, posteriorly rotated ears, Downslanted... ORPHA:2117
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Short stature, Retinal detachment, Chorioretinal dysplasia, ... OMIM:251270
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Delayed eruption of teeth, Carious teeth, Disproportionate short-trunk short statu... OMIM:253200
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy, Syndactyly, Brachydactyly, Polydactyly, Hypogonadism, O... OMIM:615982
17Q23.1Q23.2 Microdeletion Syndrome
Long eyelashes, Sandal gap, Coxa magna, Abnormal epiphysis morphology, Intrauterine growth retard... ORPHA:261279
Mosaic Trisomy 1
Abnormal pinna morphology, 2-3 finger syndactyly, Finger clinodactyly, Downslanted palpebral fiss... ORPHA:1692
Hurler Syndrome
Angina pectoris, Hydrocephalus, Abnormal epiphysis morphology, Rhinitis, Growth delay, Thick eyeb... ORPHA:93473
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Corneal opacity, Generalized hirsutism, Short stature, Abnormal... ORPHA:93476
Ramos-Arroyo Syndrome
Keratitis, Corneal ulceration, Sparse scalp hair, Decreased body weight, Severe short stature, Se... ORPHA:1051
Bardet-Biedl Syndrome 1
Gait imbalance, Ataxia, Retinal degeneration, Attenuation of retinal blood vessels, Retinal dystr... OMIM:209900
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal lacrimal duct morphology, Abnormality of the extraocular muscles, Palpebral edema, Myosi... ORPHA:79078
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Single transverse palmar crease, Long eyelashes, Delayed closure of the anterior fontanelle, Clin... OMIM:610759
Mosaic Trisomy 8
Abnormal antihelix morphology, Abnormal pinna morphology, Protruding ear, Corneal opacity, Deep p... ORPHA:96061
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Failure to thrive, Abnormal helix morphology, Talipes equinovarus, Micrognathia, Pa... OMIM:614866
Joubert Syndrome 37
Microphthalmia, Cryptorchidism, Sparse hair, Postaxial polydactyly, Oculomotor apraxia, Short sta... OMIM:619185
Short toe, Sparse hair, Sparse eyelashes, Short stature, Opacification of the corneal stroma, Sho... OMIM:211370
4Q21 Microdeletion Syndrome
Short palm, Low-set ears, Motor stereotypy, Generalized hirsutism, Small hand, Micromelia, Cerebe... ORPHA:238750
Juvenile Sialidosis Type 2
Loss of ambulation, Ataxia, Corneal opacity, Dysmetria, Cherry red spot of the macula, Myoclonus,... ORPHA:93399
Warburg Micro Syndrome 2
Overlapping toe, Low anterior hairline, Microphthalmia, Flexion contracture, Spastic diplegia, Mi... OMIM:614225
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Generalized hirsutism, Low anterio... ORPHA:2095
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Hypertrichosis Cubiti
Generalized hirsutism, Thick eyebrow, Severe short stature, Abnormal nasolacrimal system morpholo... ORPHA:2220
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Downslanted palpebral fissures, Broad hallux, Sandal gap, Delayed closure o... OMIM:311300
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Cleft palate, Non-midline cleft lip ORPHA:1072
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Foveal hyperpigmentation, Optic... OMIM:609218
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Corneal scarring, Flexion contracture, Alopecia, Enamel hypoplasia, Cataract, Nail dystrophy, Gro... OMIM:226600
Cockayne Syndrome A
Ataxia, Abnormal pinna morphology, Sparse hair, Retinal pigment epithelial mottling, Dry hair, Ca... OMIM:216400
Tenorio Syndrome
Hydrocephalus, Clumsiness, Thick eyebrow, Hypertrichosis, Raynaud phenomenon, Osteopenia, Delayed... OMIM:616260
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Conjunctivitis OMIM:616740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Megalocornea, Optic atrophy, Cataract, Microphthalmia, Microtia, Buphthalmos, Micr... OMIM:236670
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Poor eye contact, Joint hypermobility, Poor fine motor coordination, Postnatal growth retardation... ORPHA:254531
Cornelia De Lange Syndrome 2