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, Abnormality of the mouth 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
Cleft palate, Velopharyngeal insufficiency 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
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia OMIM:606713
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
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Van Der Woude Syndrome 1
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula OMIM:119300
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Cleft palate, Bifid uvula OMIM:303400
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Short stature, Abnormality of the o... ORPHA:363417
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Lacrimoauriculodentodigital Syndrome
Carious teeth, Absent lacrimal punctum, Abnormal dental enamel morphology, Hypoplasia of the radi... ORPHA:2363
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Stomach cancer OMIM:137215
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Cleft palate, Tooth agenesis ORPHA:1074
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Kid Syndrome
Sparse eyelashes, Corneal erosion, Palmoplantar keratoderma, Acne inversa, Limbal stem cell defic... ORPHA:477
Lacrimoauriculodentodigital Syndrome
Carious teeth, Corneal perforation, Radial deviation of the 3rd finger, Absent lacrimal punctum, ... OMIM:149730
Waardenburg Syndrome, Type 2E
Morphological abnormality of the vestibule of the inner ear, Hypoplasia of the iris, Dilated vest... OMIM:611584
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Cataract 11, Multiple Types
Chorea, Hypertonia, Microphthalmia OMIM:610623
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Highly arched eyebrow, Optic atrophy, Radioulnar synostosis, Talon cusp, Short... OMIM:605282
Microphthalmia With Limb Anomalies
Arrhinencephaly, Talipes equinovarus, Short stature, Finger syndactyly, Synostosis of joints, Hyp... ORPHA:1106
Otopalatodigital Syndrome Type 2
Malar flattening, Hearing impairment, Hydrocephalus, Increased bone mineral density, Camptodactyl... ORPHA:90652
Cockayne Syndrome Type 2
Gait disturbance, Developmental cataract, Hypoplasia of the primary teeth, Intrauterine growth re... ORPHA:90322
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short stature, Short 1st metacarpal, Brachyd... OMIM:113100
Cofs Syndrome
Optic atrophy, Micrognathia, Abnormality of retinal pigmentation, Intrauterine growth retardation... ORPHA:1466
Nail-Patella Syndrome
Talipes equinovarus, Short stature, Lester's sign, Quadriceps aplasia, Elongated radius, Pes plan... OMIM:161200
Oculoauricular Syndrome
Morning glory anomaly, Retinal coloboma, Rod-cone dystrophy, Nasolacrimal duct obstruction, Iris ... OMIM:612109
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Conductive hearing impairment, Cone-shaped epiphysis, Short stature, Mitral re... OMIM:157800
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Sheldon-Hall Syndrome
Tarsal synostosis, Round ear, Micrognathia, Adducted thumb, Short stature, Ulnar deviation of fin... ORPHA:1147
Warburg Micro Syndrome 1
Microcornea, Optic atrophy, Micrognathia, Developmental cataract, Hypertrichosis, Microphthalmia,... OMIM:600118
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia, Severe postnatal growth retardation, Hamartoma of the orb... ORPHA:2399
Pierpont Syndrome
Short stature, Large fleshy ears, Telecanthus, Malar flattening, Prominent subcalcaneal fat pad, ... OMIM:602342
Crouzon Disease
Conductive hearing impairment, Optic atrophy, Chiari malformation, Ptosis, Hearing impairment, Ir... ORPHA:207
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Telangiectasia, Microphthalmia, Ectropion, Choreoathetosis, Keratitis... OMIM:278730
Cerebrooculofacioskeletal Syndrome 2
Micrognathia, Developmental cataract, Intrauterine growth retardation, Growth delay, Rocker botto... OMIM:610756
2Q24 Microdeletion Syndrome
Toe syndactyly, Microphthalmia, Growth delay, Small for gestational age, Abnormality iris morphol... ORPHA:1617
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Cerebrooculofacioskeletal Syndrome 1
Micrognathia, Hirsutism, Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed... OMIM:214150
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Micrognathia, Abnormality of femur morphology, Limb undergrowth, Abnormality o... ORPHA:3429
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Osteoporosis, Pes planus, Abnormal... ORPHA:85194
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Conductive hearing impairment, Abnormality of the ulna, Short stature, Oligoda... ORPHA:1307
Kniest Dysplasia
Rhegmatogenous retinal detachment, Bilateral ptosis, Hearing impairment, Short long bone, Aplasia... ORPHA:485
Noonan Syndrome
Micrognathia, Short stature, Ptosis, Hypogonadotropic hypogonadism, Coarse hair, Low-set, posteri... ORPHA:648
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Ptosis, Malar flattening, Sensorineural hearing impairm... ORPHA:53271
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Hirsutism, Partial fusion of carpals, Delayed eruption of teeth, Camptoda... OMIM:305620
Pierpont Syndrome
Telecanthus, Malar flattening, Pes planus, Hearing impairment, Short toe, Prominent fingertip pad... ORPHA:487825
Gómez-López-Hernández Syndrome
Alopecia of scalp, Short stature, Impaired pain sensation, Telecanthus, Ataxia, Cerebellar vermis... ORPHA:1532
Humero-Radial Synostosis
Tarsal synostosis, Meningocele, Elbow ankylosis, Chorioretinal coloboma, Aplasia/Hypoplasia of th... ORPHA:3265
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Microphthalmia OMIM:615771
Carious teeth, Eczema, Diffuse cerebellar atrophy, Brittle hair, Increased bone mineral density, ... ORPHA:33364
Proximal Symphalangism
Tarsal synostosis, Proximal symphalangism, Elbow ankylosis, Metacarpophalangeal synostosis, Synos... ORPHA:3250
Brachydactyly, Type B2
Tarsal synostosis, Cutaneous finger syndactyly, Proximal symphalangism of hands, Absent phalangea... OMIM:611377
Warburg Micro Syndrome 3
Microcornea, Optic atrophy, Micrognathia, Developmental cataract, Hypertrichosis, Shallow anterio... OMIM:614222
Cockayne Syndrome Type 1
Hearing impairment, Uveitis, Postnatal growth retardation, Conjunctivitis, Contractures involving... ORPHA:90321
Mucolipidosis Type Iii
Short stature, Hypoplastic inferior ilia, Acne, Reduced bone mineral density, Craniofacial hypero... ORPHA:577
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Dens in dente, Short middle phalanx of fin... OMIM:263540
Cleft Palate, Isolated
Increased overbite, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Short stature, Low-set, posteriorly rotated ears, Abnormality of... ORPHA:2370
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Lagopthalmos, Sclerosis of finger phalanx, Bilateral ptosis, Reduced bone mineral density, Delaye... ORPHA:404454
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Micrognathia, Intrauterine growth retardation, Paresthesia, Short stature, Microphthalmia, Dysmet... ORPHA:48431
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microphthalmia, Intrauterine growth retardation, Rocker bottom foot, Talipes equino... OMIM:616570
Charge Syndrome
Arrhinencephaly, Absent tibia, Retinal coloboma, Malar flattening, Iris coloboma, Lop ear, Radial... OMIM:214800
Mental Retardation, Autosomal Recessive 14
Narrow palate OMIM:614020
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Distal Monosomy 10Q
Short stature, Short metatarsal, Pes valgus, Pes planus, Postnatal growth retardation, Cerebellar... ORPHA:96148
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Micrognathia, Microphthalmia, Ankyloblepharon, Overfolded helix, Small hand,... OMIM:619339
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Bilateral external ear deformity, Talipes equ... ORPHA:93307
Microcephaly-Microcornea Syndrome, Seemanova Type
Progressive spasticity, Microphthalmia, Growth delay, Short stature, Upslanted palpebral fissure,... ORPHA:2528
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula OMIM:258320
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Severe short-limb dwarfism, Abnormality of pelvic girdle bone morphology, Abno... ORPHA:968
Nanophthalmos 4
Microphthalmia OMIM:615972
Mesomelia-Synostoses Syndrome
Abnormal foot morphology, Abnormality of the knee, Short stature, Telecanthus, Malar flattening, ... ORPHA:2496
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Tarsal synostosis, Vertebral fusion, Short stature, Ptosis, Hip contracture, Craniosynostosis, Lo... OMIM:178110
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of the ulna, Short stature, Abnormality of epiphysis morphology, S... ORPHA:2639
Microspherophakia-Metaphyseal Dysplasia
Irregular epiphyses, Lens coloboma, Metaphyseal dysplasia, Growth delay, Lens subluxation, Short ... OMIM:157151
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Telecanthus, Bilateral conductive hearing impairment, Abnormality of the wrist... ORPHA:2010
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Microphthalmia, Spasticity OMIM:278780
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Talipes equinovarus, Capitate-hamate fusion, C2-C3 sublux... OMIM:272460
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Narrow palpebral fissure, Pes planus, Genu recurvatum, Hearing impairment, Hip dislocation, Catar... OMIM:608763
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Micrognathia, Optic disc pallor, Macular atrophy, Intrauterine growth retardation,... OMIM:616171
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Proximal symphalangism of hands, Short stature, Short finger, Humeroradial syn... OMIM:186570
Otodental Syndrome
Carious teeth, Pulp calcification, Lens coloboma, Microphthalmia, Retinal coloboma, Abnormal dent... ORPHA:2791
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Zika Virus Disease
Wrist swelling, Transient hearing impairment, Infectious encephalitis, Macular atrophy, Ankle swe... ORPHA:448237
Corneal opacity, Cherry red spot of the macula, Hearing impairment ORPHA:351
Osebold-Remondini Syndrome
Tarsal synostosis, Short stature, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the ... OMIM:112910
Orofaciodigital Syndrome Type 1
Chronic otitis media, Brittle hair, Abnormal dental enamel morphology, Telecanthus, Finger syndac... ORPHA:2750
22Q11.2 Deletion Syndrome
Carious teeth, Arrhinencephaly, Talipes equinovarus, Short stature, Chronic otitis media, Hypopla... ORPHA:567
Autism Spectrum Disorder Due To Auts2 Deficiency
Abnormal foot morphology, Eczema, Short stature, Cerebral palsy, Bilateral ptosis, Joint contract... ORPHA:352490
Frontonasal Dysplasia 1
Conductive hearing impairment, Microphthalmia, Ptosis, Hypoplastic frontal sinuses, Epicanthus, J... OMIM:136760
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Telecanthus, Femal... ORPHA:572333
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Short stature, Tapered finger, Weig... ORPHA:317
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Micrognathia, Ectropion, Synophrys, Recurrent otitis media, Downslanted palpebral fissures, Long ... OMIM:602562
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Flattened femoral head, Irregular epiphyses, Genu varum, Abnormality of femur ... ORPHA:1822
Temtamy Syndrome
Micrognathia, Genu varum, Chorioretinal coloboma, Microphthalmia, Telecanthus, Pes planus, Iris c... ORPHA:1777
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Mandibular prognathia, Chronic otitis media, Bowing of the long bones, Hypoplastic inferior ilia,... ORPHA:61
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Micrognathia, 2-3 toe syndactyly, Lens coloboma, Microphthalmia, Mandibular prognathia, Cerebral ... OMIM:618914
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Adrenal hyperplasia, Abnormal foot morphology, Oligospermia, Hirsutism, Elevated circulating foll... ORPHA:95699
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Mesomelic short stature, Abnormality of the ulna, Genu varum, Aplasia/Hypoplas... ORPHA:2633
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormal foot morphology, Dystrophic fingernails, Dystrophic toenail, Abnormal... ORPHA:1657
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Microcornea, Micrognathia, Microphthalmia, Short stature, Tapered finger, Upslante... OMIM:616734
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Symphalangism, Proximal, 1A
Tarsal synostosis, Conductive hearing impairment, Proximal symphalangism of hands, Short 5th meta... OMIM:185800
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Muckle-Wells Syndrome
Conjunctival hyperemia, Polyarticular arthritis, Short stature, Hearing impairment, Maculopapular... OMIM:191900
Apert Syndrome
Ovarian neoplasm, Toe syndactyly, Cervical C5/C6 vertebrae fusion, Conductive hearing impairment,... ORPHA:87
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Short stature,... OMIM:147891
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Polyarticular arthritis, Growth delay, Failure to thrive, Punctate ke... OMIM:617388
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Optic atrophy, Retinal fold, Microphthalmia, Mandibular prognathia, Upslanted palpeb... OMIM:152950
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Micrognathia, Cerebellar atrophy, Positional foot def... ORPHA:496790
Mend Syndrome
Dandy-Walker malformation, 2-3 toe syndactyly, Polydactyly, Short stature, Long fingers, Hyperact... OMIM:300960
Warburg Micro Syndrome 4
Microcornea, Optic atrophy, Developmental cataract, Babinski sign, Hirsutism, Severe postnatal gr... OMIM:615663
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Microphthalmia, Short stature, Peters anomaly, Iris coloboma,... OMIM:610023
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Ptosis, Iris colobo... ORPHA:1473
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Short stature, Talipes, Ulnar deviation of finger,... ORPHA:1836
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Arachnodactyly, Retinal detac... ORPHA:171844
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
20P13 Microdeletion Syndrome
Highly arched eyebrow, Narrow palpebral fissure, Bilateral external ear deformity, Failure to thr... ORPHA:313781
Chromosome 3Pter-P25 Deletion Syndrome
Highly arched eyebrow, Micrognathia, Short stature, Ptosis, Postaxial polydactyly, Upslanted palp... OMIM:613792
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Norrie Disease
Malar flattening, Stereotypy, Aplasia/Hypoplasia of the cerebellum, Remnants of the hyaloid vascu... ORPHA:649
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Moebius Syndrome
Clumsiness, Talipes equinovarus, Lower limb undergrowth, Pes planus, Syndactyly, Camptodactyly, A... OMIM:157900
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Progressive cerebellar ataxia, Ataxia, Corneal opacity, Upper motor neuron dys... ORPHA:3177
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Eczema, Short stature, Epicanthus, Hearing impairment, Postnatal growth retardation, Decreased bo... OMIM:612947
Joubert Syndrome 14
Dandy-Walker malformation, Highly arched eyebrow, Hypertension, Microphthalmia, Growth delay, Mor... OMIM:614424
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia, Macrotia, Choreoathetosis OMIM:221950
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of the... ORPHA:2741
Muckle-Wells Syndrome
Optic atrophy, Episcleritis, Short stature, Arthritis, Broad foot, Pes cavus, Uveitis, Vasculitis... ORPHA:575
Chromosome 8Q21.11 Deletion Syndrome
Micrognathia, Ptosis, Epicanthus, Downslanted palpebral fissures, Low-set ears, Short palpebral f... OMIM:614230
Rubinstein-Taybi Syndrome
Carious teeth, Broad hallux phalanx, Short stature, Telecanthus, Nasolacrimal duct obstruction, F... ORPHA:783
Microphthalmia With Limb Anomalies
Abnormal hair morphology, Talipes equinovarus, Short palpebral fissure, Postnatal growth retardat... OMIM:206920
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media OMIM:612692
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Keratoconjunctivitis sicca, Short stature, Ptosis, Mandibular prognathia, Tapered finger, Metaphy... OMIM:616007
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Jerky head movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Upslanted palpebral fissure, Large fleshy ears, Overfolded helix, Myoclonus, Arachnodactyly, Ster... OMIM:619092
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Prolonged QT interval, Paresthesia, Short stature, My... ORPHA:94089
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Short... ORPHA:2788
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Arthritis, Oti... OMIM:601457
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Trichothiodystrophy 4, Nonphotosensitive
Keratoconjunctivitis sicca, Optic atrophy, Microcornea, Sparse eyelashes, Microphthalmia, Growth ... OMIM:234050
Short Syndrome
Posterior embryotoxon, Hypoplasia of the iris, Weight loss, Alopecia, Malar flattening, Abnormal ... ORPHA:3163
Gombo Syndrome
Microphthalmia OMIM:233270
Warburg-Cinotti Syndrome
Ankle flexion contracture, Narrow palpebral fissure, Conductive hearing impairment, Decreased cor... OMIM:618175
Pseudohypoparathyroidism Type 1A
Short 5th metacarpal, Paresthesia, Short stature, Short metatarsal, Delayed eruption of teeth, Re... ORPHA:79443
Winchester Syndrome
Osteolysis involving bones of the feet, Osteolysis involving bones of the upper limbs, Corneal op... OMIM:277950
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements, Vertigo ORPHA:71518
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive, Recurrent otitis media, Crohn's disease,... OMIM:601495
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Intrauterine growth retardation, Microphthalmia, Short statu... ORPHA:290
Gm1 Gangliosidosis
Retinopathy of prematurity, Hirsutism, Short stature, Camptodactyly of finger, Low-set ears, Gait... ORPHA:354
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Failure to thrive in infancy, Intrauterine growth retardation, Adducted thumb, Rock... OMIM:610758
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Carious teeth, Periorbital dermoid cyst, Tapered finger, Lacrimal duct stenosis, Low-set ears, Do... OMIM:615560
Jackson-Weiss Syndrome
Broad metatarsal, 2-3 toe syndactyly, Short metatarsal, Craniosynostosis, Malar flattening, Calca... OMIM:123150
Rere-Related Neurodevelopmental Syndrome
Broad eyebrow, Micrognathia, Optic atrophy, Chorioretinal coloboma, Intrauterine growth retardati... ORPHA:494344
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
48,Xxyy Syndrome
Carious teeth, Chronic otitis media, Broad jaw, Pes planus, Abnormal dental enamel morphology, De... ORPHA:10
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hirsutism, Talipes equinovarus, Short stature, Telecanthus, Hearing impairment, Cerebellar hypopl... OMIM:301056
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Cat-Eye Syndrome
Intrauterine growth retardation, Chorioretinal coloboma, Short stature, Microphthalmia, Downslant... ORPHA:195
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Macrotia, Abnormality of the ear OMIM:600776
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Cataract, Aplasia/Hypoplasia of the lens, Genu valgum ORPHA:1381
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Talipes equinovarus, Absent phalangeal crease, Antecubital pterygium, Fused ce... OMIM:618469
Oculodentodigital Dysplasia, Autosomal Recessive
Persistent pupillary membrane, Sparse eyelashes, Short stature, Abnormal dental enamel morphology... OMIM:257850
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Hypergonadotropic hypogona... OMIM:609441
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Developmental cataract, Laterally extended eyebrow, Intrauterine growth re... OMIM:618804
X-Linked Agammaglobulinemia
Sinusitis, Short stature, Recurrent cutaneous abscess formation, Chronic otitis media, Failure to... ORPHA:47
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Epiphyseal stippling, Malar flattening, Hearing impairment, Postnatal growth re... OMIM:302960
Sialidosis Type 2
Short stature, Osteoporosis, Hearing impairment, Tremor, Ataxia, Corneal opacity, Flexion contrac... ORPHA:87876
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... ORPHA:70476
Adams-Oliver Syndrome 2
Optic atrophy, Micrognathia, Narrow palpebral fissure, Developmental cataract, Microphthalmia, Lo... OMIM:614219
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Upper eyelid coloboma, Absent lacrimal punctum, Ectopic lacrimal punctum,... OMIM:167730
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Weill-Marchesani Syndrome 2
Short stature, Short metatarsal, Delayed skeletal maturation, Hypoplasia of the maxilla, Aortic v... OMIM:608328
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Chronic otitis media, Failure to thrive, Hepatitis, Epicanthus, Arthri... ORPHA:33110
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of sca... OMIM:612843
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Cubitus valgus, Delayed eruption of teeth, Hearing impairment, Flexion contra... ORPHA:2712
Pelvis-Shoulder Dysplasia
Bilateral external ear deformity, Talipes equinovarus, Retinal coloboma, Short stature, Prominent... ORPHA:2839
Oculomaxillofacial Dysostosis
Micrognathia, Abnormality of the humerus, Adducted thumb, Short stature, Upslanted palpebral fiss... ORPHA:1794
Martsolf Syndrome 1
Slender ulna, Talipes equinovarus, Short stature, Short toe, Hypoplasia of the maxilla, Short pha... OMIM:212720
Cousin Syndrome
2-3 toe syndactyly, Talipes equinovarus, Prominent protruding coccyx, Joint contracture of the ha... OMIM:260660
Orofaciodigital Syndrome Vi
Toe syndactyly, Micrognathia, Conductive hearing impairment, Short stature, Postaxial polydactyly... OMIM:277170
Brachydactyly, Mononen Type
Aplasia of the distal phalanx of the 2nd finger, Absent distal phalanges, Proximal fibular overgr... OMIM:301940
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Eczema, Hirsutism, Gait imbalance, Chronic otitis media, Prominent protruding coccyx, Nasolacrima... OMIM:300966
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, 2-3 toe syndactyly, Sparse eyelashes, Nail dystrophy, Ankyloblepha... OMIM:106260
Arboleda-Tham Syndrome
Genu varum, Gait imbalance, Thin eyebrow, Anteverted ears, Pes planus, Stereotypy, Low-set ears, ... OMIM:616268
Fontaine Progeroid Syndrome
Hypoplastic nipples, Short stature, Short palpebral fissure, Syndactyly, Hydrocephalus, Delayed s... OMIM:612289
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Chorioretinal coloboma, Microphthalmia, Short stature, Ptosis, Failure to ... OMIM:243310
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Carpenter Syndrome 1
Genu varum, Short stature, Malar flattening, Telecanthus, Joint contracture of the hand, Deviatio... OMIM:201000
Trisomy 13
Malar flattening, Iris coloboma, Low-set ears, Abnormality of pelvic girdle bone morphology, Abno... ORPHA:3378
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Recurrent skin infections, Cataract, Keratoconus, C... OMIM:603165
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Jerky head movements, Ptosis, Spastic gait, Spa... ORPHA:251282
Crouzon Syndrome
Conjunctivitis, Conductive hearing impairment, Optic atrophy, Lambdoidal craniosynostosis, Mandib... OMIM:123500
Cohen Syndrome
Short stature, Cubitus valgus, Finger syndactyly, Iris coloboma, Hypoplasia of the maxilla, Abnor... ORPHA:193
Sponastrime Dysplasia
Congenital aphakia, Metaphyseal irregularity, Obtuse angle of mandible, Pes planus, Shallow aceta... ORPHA:93357
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Ptosis, Talipes, Alopecia, Congenital hip dislocation, Finger syndacty... ORPHA:1647
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Syndactyly Type 5
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... ORPHA:93406
Bardet-Biedl Syndrome 5
Polydactyly, Macular dystrophy, Rod-cone dystrophy, Hypogonadism, Syndactyly, Obesity, Brachydactyly OMIM:615983
Multiple Synostoses Syndrome 3
Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad thumb, Cutaneou... OMIM:612961
Nievergelt Syndrome
Tarsal synostosis, Mesomelic short stature, Talipes equinovarus, Genu valgum, Mesomelia, Radial h... OMIM:163400
Cri-Du-Chat Syndrome
Short metatarsal, Pes planus, Hearing impairment, Stereotypy, Anterior open-bite malocclusion, Sy... OMIM:123450
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Dystonia, Talipes equinovarus, Tapered finger, Upslanted palpebral fissure, Abnorm... OMIM:617807
Congenital Sialidosis Type 2
Optic atrophy, Telangiectasia, Developmental cataract, Hypoplasia of the fovea, Polydactyly, Cher... ORPHA:93400
Fatco Syndrome
Tarsal synostosis, Short stature, Finger syndactyly, Absent hand, Split hand, Abnormality of fibu... ORPHA:2492
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia, Large for gestational age ORPHA:2432
Arthrogryposis, Distal, Type 1A
Single transverse palmar crease, Hip contracture, Talipes equinovarus, Short stature, Joint contr... OMIM:108120
De Sanctis-Cacchione Syndrome
Telangiectasia, Cerebellar atrophy, Ectropion, Choreoathetosis, Keratitis, Sensorineural hearing ... OMIM:278800
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Micrognathia, Chronic otitis media, Prominent protruding coccyx, Obesity, Epicanthus, D... ORPHA:480907
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Intrauterine growth retardation, Short stature, Bowing of the long bones, Low-set, posteriorly ro... ORPHA:2725
Gorham-Stout Disease
Abnormality of ethmoid bone, Abnormality of the internal auditory canal, Abnormality of femur mor... ORPHA:73
Orofaciodigital Syndrome X
Fibular aplasia, Hand oligodactyly, Telecanthus, Coalescence of tarsal bones, Retrognathia, Preax... OMIM:165590
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Dacryocystitis, Nasolacrimal duct obstruction, Palpebral edema, Abnormal ... ORPHA:449563
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Fraxe Intellectual Disability
Clumsiness, Intrauterine growth retardation, Short stature, Prominent ear helix, Epicanthus, Ster... ORPHA:100973
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Cerebral palsy, Hemiplegia/hemiparesis, Joint dislocation, Arthritis, Sensorineural... ORPHA:36412
Usher Syndrome Type 1
Abnormal dental enamel morphology, Sensorineural hearing impairment, Ataxia, Aplasia/Hypoplasia o... ORPHA:231169
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Tapered finger, Failure to thrive, Long fingers, Macrotia, Posteriorly... OMIM:609425
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Micrognathia, Eczema, Absent eyebrow, Malar flattening, Abnormal dental enamel... ORPHA:85199
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Short stature, Iris hypopigmentation, Abnormal pyramidal sign, Spastic tetrapleg... ORPHA:2719
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity, Polydactyly, Retinopathy OMIM:615988
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Gait disturbance, Narrow palpebral fissure, Microphthalmia, Short stature, Retinal coloboma, Epic... OMIM:618571
Multiple Synostoses Syndrome 2
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Talipes equinovarus, Finger symphala... OMIM:610017
Spondyloepiphyseal Dysplasia, Nishimura Type
Micrognathia, Microphthalmia, Wide proximal femoral metaphysis, Abnormal femoral neck/head morpho... ORPHA:163649
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Small for gestational age, Syndactyly, Upper limb phocomelia, Abnormal hip bone morp... ORPHA:294975
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Short stature, Recurrent otitis media, Malar flattening, Recurrent pneumo... OMIM:604173
Jacobsen Syndrome
Telecanthus, Nasolacrimal duct obstruction, Iris coloboma, Macular hypoplasia, Hydrocephalus, Low... OMIM:147791
Christianson Syndrome
Dystonia, Cachexia, Cerebellar atrophy, Adducted thumb, Mandibular prognathia, Macrotia, Arthrogr... ORPHA:85278
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Synostosis of carpal bones, Finger syndactyly, Spina bifi... ORPHA:957
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hirsutism, Hip contracture, Short stature, Pes planus, Delayed eruption of tee... OMIM:259600
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Short stature, Ectopia lentis, Microspherophakia, Pulmonic stenosis, Jo... OMIM:614819
8Q21.11 Microdeletion Syndrome
Micrognathia, Eczema, Microphthalmia, Ptosis, Sclerocornea, Absent palmar crease, Epicanthus, Dow... ORPHA:284160
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormal foot morphology, Short stature, Hearing impairment, Syndactyly, Incoordination, Camptoda... ORPHA:369891
Chromosome 16Q22 Deletion Syndrome
Highly arched eyebrow, Micrognathia, Growth delay, Small for gestational age, Failure to thrive, ... OMIM:614541
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Pseudohypoparathyroidism Type 1C
Short 5th metacarpal, Paresthesia, Short stature, Short metatarsal, Delayed eruption of teeth, In... ORPHA:79444
Bardet-Biedl Syndrome 13
Polydactyly, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal ... OMIM:615990
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Incontinentia Pigmenti
Abnormal hair morphology, Short stature, Dystrophic toenail, Abnormal dental enamel morphology, D... ORPHA:464
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Usmani-Riazuddin Syndrome, Autosomal Recessive
Conjunctival hyperemia, Epicanthus, Posteriorly rotated ears, Spasticity, Low-set ears, Joint laxity OMIM:619548
3P25.3 Microdeletion Syndrome
Congenital pseudoarthrosis of the clavicle, Proximal placement of thumb, Stereotypy, Broad hallux... ORPHA:435638
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity, Polydactyly, Rod-cone dystrophy OMIM:615989
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Ptosis ORPHA:2064
Smith-Magenis Syndrome
Broad palm, Morphological abnormality of the middle ear, Short stature, Impaired pain sensation, ... OMIM:182290
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse eyelashes, Talipes equinovarus, Pes planus, Stereotypy, Delayed skeletal maturation, Low-s... OMIM:619293
De Barsy Syndrome
Abnormal fundus fluorescein angiography, Talipes equinovarus, Short stature, Delayed eruption of ... ORPHA:2962
Zellweger Syndrome
Optic atrophy, Micrognathia, Short stature, Epiphyseal stippling, Posterior embryotoxon, Upslante... ORPHA:912
Multiple Synostoses Syndrome 4
Tarsal synostosis, Otosclerosis, Pes planus, Overlapping toe, Broad foot, Brachydactyly OMIM:617898
Cockayne Syndrome
Carious teeth, Limb hypertonia, Progressive gait ataxia, Postnatal growth retardation, Retinal ar... ORPHA:191
Aniridia 1
Hypoplasia of the fovea, Corneal erosion, Ptosis, Ectopia lentis, Bilateral ptosis, Optic nerve h... OMIM:106210
Episodic Ataxia Type 4
Frequent falls, Abnormal head movements, Vertigo, Ataxia, Incoordination ORPHA:79136
Talonavicular Coalition
Coalescence of tarsal bones, Proximal/middle symphalangism of 5th finger, Abnormality of the ankl... OMIM:186750
Joubert Syndrome 10
Hirsutism, Growth delay, Postaxial polydactyly, Epicanthus, Downslanted palpebral fissures, Rod-c... OMIM:300804
Microphthalmia, Syndromic 13
Microphthalmia, Short stature, Ptosis, Anteverted ears, Abnormality of the pinna, Coloboma, Micro... OMIM:300915
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Palmoplantar Carcinoma, Multiple Self-Healing
Nail dystrophy, Palmoplantar keratoderma, Limbal stem cell deficiency, Finger joint hypermobility... OMIM:615225
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Stereotypy, Cataract, Flexion contracture, Spasticity, Difficulty walking OMIM:617393
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Cleft palate, Bifid uvula ORPHA:2736
Waardenburg Syndrome, Type 4C
Blue irides, White eyelashes, White forelock, Sensorineural hearing impairment, Heterochromia iri... OMIM:613266
Megalocornea-Intellectual Disability Syndrome
Micrognathia, Genu varum, Short stature, Tapered finger, Iridodonesis, Hypoplasia of the iris, Ep... ORPHA:2479
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Conjunctivitis OMIM:613493
Microphthalmia With Brain And Digit Anomalies
Microcornea, Chorioretinal coloboma, Microphthalmia, Sclerocornea, Retinal dystrophy, Anophthalmi... ORPHA:139471
Familial Cold Urticaria
Sensorineural hearing impairment, Dysesthesia, Arthritis, Conjunctivitis ORPHA:47045
Mucopolysaccharidosis Type 1
Sinusitis, Paresthesia, Short stature, Chronic otitis media, Hearing impairment, Hydrocephalus, H... ORPHA:579
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Laurence-Moon Syndrome
Short stature, Abnormal antitragus morphology, Epicanthus, Low-set, posteriorly rotated ears, Fin... ORPHA:2377
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Intellectual Developmental Disorder, Autosomal Dominant 23
Micrognathia, Lower limb asymmetry, Low anterior hairline, Ptosis, Postaxial polydactyly, Upslant... OMIM:615761
Stickler Syndrome Type 2
Sensorineural hearing impairment, Abnormal vitreous humor morphology, Retinal detachment, Corneal... ORPHA:90654
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Stereotypy OMIM:209850
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Delayed eruption of teeth, Postnatal growth retardation, Delayed skeletal maturati... ORPHA:73272
Transketolase Deficiency
Secondary amenorrhea, Seborrheic dermatitis, Proportionate short stature, Hearing impairment, Ste... ORPHA:488618
Bardet-Biedl Syndrome 10
Polydactyly, Retinal dystrophy, Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615987
Neuroocular Syndrome
Lagopthalmos, Short stature, Stellate iris, Brittle hair, Peters anomaly, Genu recurvatum, Nasola... OMIM:619539
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Weill-Marchesani Syndrome 1
Broad metatarsal, Broad palm, Shallow anterior chamber, Shallow orbits, Short stature, Ectopia le... OMIM:277600
Clouston Syndrome
Fine hair, Abnormal foot morphology, Abnormality of the hand, Sparse eyelashes, Short stature, Ab... OMIM:129500
Rubinstein-Taybi Syndrome 1
Hirsutism, Radial deviation of thumb terminal phalanx, Short stature, Pes planus, Nasolacrimal du... OMIM:180849
Mullegama-Klein-Martinez Syndrome
Micrognathia, Polydactyly, Low anterior hairline, Short stature, Failure to thrive, Curly eyelash... OMIM:301022
Refsum Disease
Abnormal foot morphology, Abnormality of retinal pigmentation, Microphthalmia, Hammertoe, Ptosis,... ORPHA:773
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, White f... ORPHA:2779
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:186400
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of finger, Downslanted palpebral fissures, Lacrimal duct atresia, Abnormality of ... ORPHA:1529
Acrootoocular Syndrome
Short stature, Prominent calcaneus, Delayed eruption of teeth, Delayed skeletal maturation, Short... ORPHA:2980
Charge Syndrome
Short stature, Abnormality of bone mineral density, Overfolded helix, Delayed eruption of teeth, ... ORPHA:138
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Malar flattening, Rod-cone dystrophy, Hyp... OMIM:615984
Nance-Horan Syndrome
Microcornea, Microphthalmia, Mandibular prognathia, Supernumerary tooth, Retinal detachment, Shor... ORPHA:627
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Microphthalmia, Abnormality of epiphysis morphology, Rhizomelia, Bowing of the long... ORPHA:93267
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Intrauterine growth retardation, Adducted thumb, Talipes equinovarus, Aor... OMIM:616603
Immunodeficiency, Common Variable, 1
Pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Conj... OMIM:607594
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Nail dystrophy, Alopecia, Coarse hair, Chronic mucocutaneous candidiasis, Melena, Recu... OMIM:158310
Mucolipidosis Iv
Optic atrophy, Babinski sign, Cerebellar atrophy, Retinal degeneration, Dystonia, Spastic tetrapl... OMIM:252650
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the ear, Prominent fingertip pads, Oromotor apraxia, Downslanted palpebral fissure... ORPHA:391372
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Walker-Warburg Syndrome
Retinal dysplasia, Iris coloboma, Hydrocephalus, Cerebellar hypoplasia, Low-set ears, Protruding ... ORPHA:899
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Fine hair, Tiger tail banding, Microcornea, Erythroderma, Telangiecta... OMIM:601675
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Eczema, Abnormal hair morphology, Thin eyebrow, Corneal erosion, Abnormal dental enamel morpholog... ORPHA:2273
Isolated Congenital Alacrima
Corneal erosion, Ptosis, Lacrimal punctal atresia, Keratitis, Distichiasis, Lacrimal gland hypopl... ORPHA:91416
Immunodeficiency, Common Variable, 2
Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Conjunctivitis OMIM:240500
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Abnormal eyelid morphology, Keratitis, Chemosis, Corneal opacity, Los... ORPHA:163934
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Microphthalmia, Short stature, Ptosis, Telecanthus, Abnormality of the pin... OMIM:614583
Gomez-Lopez-Hernandez Syndrome
Short stature, Agenesis of cerebellar vermis, Alopecia, Malar flattening, Downslanted palpebral f... OMIM:601853
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Dystonia, Cerebellar atrophy, Shyness, Short stature, Generalized joint laxity, Sp... ORPHA:280763
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Metaphyseal irregularity, Brachydactyly, Coloboma, Short long bone, Short phala... ORPHA:85167
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Cleft palate, Bifid uvula ORPHA:2521
Cockayne Syndrome B
Carious teeth, Abnormal auditory evoked potentials, Abnormal hair morphology, Postnatal growth re... OMIM:133540
Mend Syndrome
2-3 toe syndactyly, Abnormal auditory evoked potentials, Limb hypertonia, Short stature, Telecant... ORPHA:401973
Sialidosis Type 1
Gait disturbance, Short stature, Cherry red spot of the macula, Myoclonus, Sensorineural hearing ... ORPHA:812
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... ORPHA:240103
Pontocerebellar Hypoplasia, Type 11
Short stature, Talipes equinovarus, Poor coordination, Macrotia, Poor eye contact, Stereotypy, At... OMIM:617695
Classical-Like Ehlers-Danlos Syndrome Type 2
Hallux valgus, Abnormal foot morphology, Bilateral ptosis, Pes planus, Periodontitis, Micrognathi... ORPHA:536532
Lowry-Maclean Syndrome
Hydrocephalus, Megalocornea, Low-set ears, Hypoplasia of the maxilla, Micrognathia, Intrauterine ... ORPHA:2409
Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Metaphyseal dysplasia, Talipes equinovarus, Short stature, Dysplasia of the femora... ORPHA:536471
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Short stature, Failure to thrive, Alopecia, Sensorineural hearing impairment, Kerat... OMIM:242150
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Cleft palate, Short philtrum, Thick upper lip vermilion, Thin upper lip vermilion, Abnormality of... OMIM:226440
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Talipes equinovarus, Short stature, Epiphyseal stippling, Abnormal hair pattern... ORPHA:35173
Radio-Tartaglia Syndrome
Hirsutism, Gait imbalance, Pes planus, Long eyebrows, Hearing impairment, Stereotypy, Poor eye co... OMIM:619312
Sanjad-Sakati Syndrome
Severe intrauterine growth retardation, Micrognathia, Congenital hypoparathyroidism, Hypoparathyr... ORPHA:2323
Lamb-Shaffer Syndrome
Optic atrophy, Micrognathia, Mild postnatal growth retardation, Epicanthus, Fused cervical verteb... ORPHA:530983
Waardenburg Syndrome, Type 3
Blue irides, Cutaneous finger syndactyly, Mandibular prognathia, Telecanthus, Joint contracture o... OMIM:148820
Smith-Magenis Syndrome
Short stature, Chronic otitis media, Pes planus, Stereotypy, Hand polydactyly, Toe syndactyly, Mi... ORPHA:819
Xeroderma Pigmentosum, Complementation Group A
Telangiectasia, Ectropion, Choreoathetosis, Keratitis, Sensorineural hearing impairment, Ataxia, ... OMIM:278700
Conjunctival hyperemia, Abnormality of the optic nerve, Babinski sign, Lethargy, Retinal hemorrha... ORPHA:863
Orofaciodigital Syndrome V
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue, Median cleft lip OMIM:174300
Rothmund-Thomson Syndrome, Type 2
Underfolded helix, Sparse eyelashes, Talipes equinovarus, Short stature, Overfolded helix, Delaye... OMIM:268400
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Lacrimal gland aplasia, Absent lacrimal punctum, Lacrimal gland hypoplasia OMIM:180920
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Abnormality of the ankles, Short stature ORPHA:1412
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Hemiplegia, Cerebral hemorrhage, Retinal arteriolar tortuosity, Microphthalmia, Pe... OMIM:175780
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Intrauterine growth retardation, Thin eyebrow, Microphthalmia, Aplas... ORPHA:364577
Suleiman-El-Hattab Syndrome
Highly arched eyebrow, Protruding ear, Hirsutism, Palpebral thickening, Polydactyly, Optic disc p... OMIM:618950
Bardet-Biedl Syndrome 6
Polydactyly, Retinal dystrophy, Rod-cone dystrophy, Syndactyly, Obesity OMIM:605231
Bardet-Biedl Syndrome 9
Retinal degeneration, Polydactyly, Postaxial polydactyly, Obesity, Bone spicule pigmentation of t... OMIM:615986
Scheie Syndrome
Retinal degeneration, Mandibular prognathia, Aortic regurgitation, Genu valgum, Pes cavus, Cornea... OMIM:607016
Mucopolysaccharidosis Type 3
Hirsutism, Chronic otitis media, Rod-cone dystrophy, Hearing impairment, Reduced bone mineral den... ORPHA:581
Ring Chromosome 10 Syndrome
Large earlobe, Micrognathia, Cachexia, Intrauterine growth retardation, Microphthalmia, Tapered f... ORPHA:1438
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Intrauterine growth retardation, Microphthalmia, Ocular albinism, Aplasia/Hypoplasi... ORPHA:1352
Conjunctival hyperemia, Pneumonia, Tachycardia, Otitis media, Inflammatory abnormality of the eye... ORPHA:3392
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Folliculitis, Dystrophic fingernails, Ectropion, Palmoplantar keratoderma, Scar... OMIM:308800
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Eczema, Obesity, Dacryocystitis, Sensorineural hearing impairment, Pseudohypoparathyroidism, Retr... ORPHA:464288
Genu varum, Malar flattening, Childhood onset short-limb short stature, Limited elbow extension, ... OMIM:146000
Mental Retardation, Autosomal Recessive 41
Mandibular prognathia, Downslanted palpebral fissures, Stereotypy, Retrognathia, Clinodactyly of ... OMIM:615637
Microphthalmia, Lenz Type
Microcornea, Chorioretinal coloboma, Microphthalmia, Short stature, Ankyloblepharon, Low-set, pos... ORPHA:568
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Erythema nodosum, Growth delay, Pneumonia, Bronchiectasis, F... OMIM:614700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Chronic oral candidiasis, Nail dystrophy, Alopecia,... OMIM:240300
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Microphthalmia, Cerebellar dysplasia, Hypoplasia of t... OMIM:613153
Oculodentodigital Dysplasia
Carious teeth, Cubitus valgus, Short palpebral fissure, 3-4 toe syndactyly, Paraparesis, Sparse h... OMIM:164200
Mental Retardation, Autosomal Dominant 7
Hallux valgus, Micrognathia, Gait disturbance, Intrauterine growth retardation, Failure to thrive... OMIM:614104
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Toe syndactyly, Protruding ear, Intrauterine growth retardation, Ptosis, Lacrimal duct stenosis, ... ORPHA:73246
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Growth delay, Failure to thrive, Tetraplegia, Hyperactivity, Hyper... OMIM:274270
Moebius Syndrome
Micrognathia, Abnormality of the ulna, Talipes equinovarus, Ptosis, Aplasia/Hypoplasia of the thu... ORPHA:570
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Bilateral ptosis, Cubitus valgus, Spastic ataxia, Stereotypy, Postnatal growth retar... ORPHA:300570
Mmep Syndrome
Microphthalmia, Triphalangeal thumb, Mandibular prognathia, Cryptorchidism, Split foot ORPHA:3434
Coffin-Siris Syndrome 6
Conductive hearing impairment, Narrow palpebral fissure, Micrognathia, Short stature, Epicanthus,... OMIM:617808
Distal Monosomy 6P
Micrognathia, Talipes equinovarus, Posterior embryotoxon, Abnormality of epiphysis morphology, Hy... ORPHA:96125
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Macrotia, Hyperkinetic movements ORPHA:397933
Menkes Disease
Tarsal synostosis, Micrognathia, Intracranial hemorrhage, Chondrocalcinosis, Intrauterine growth ... ORPHA:565
Orofaciodigital Syndrome Xvii
Polydactyly, Short stature, Prominent metopic ridge, Hearing impairment, Partial duplication of t... OMIM:617926
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of the knee, Talipes equinovarus, Dacryocystitis, Prominent calcaneus, Slender finger... ORPHA:251028
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short stature, Polydactyly, Brachydactyly OMIM:617405
Severe X-Linked Intellectual Disability, Gustavson Type
Profound hearing impairment, Optic atrophy, Micrognathia, Dandy-Walker malformation, Triphalangea... ORPHA:3078
Trisomy 18
Short stature, Iris coloboma, Deviation of finger, Camptodactyly of finger, Delayed skeletal matu... ORPHA:3380
Muenke Syndrome
Short middle phalanx of finger, Low anterior hairline, Ptosis, Capitate-hamate fusion, Thimble-sh... OMIM:602849
Bartsocas-Papas Syndrome
Toe syndactyly, Micrognathia, Popliteal pterygium, Eyelid coloboma, Talipes, Ankyloblepharon, Alo... ORPHA:1234
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia, Mandibular prognathia, Short palpebral fissure, Cryptorchidism, Blep... OMIM:601349
Biemond Syndrome Type 2
Microphthalmia, Short stature, Hypogonadotropic hypogonadism, Preaxial polydactyly, Hypogonadism,... ORPHA:141333
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Microphthalmia, Short stature, Acne, Synostosis of carpal bones, Epicanthus, Low-se... ORPHA:3191
Galloway-Mowat Syndrome 1
Talipes equinovarus, Short stature, Joint contracture of the hand, Slender finger, Camptodactyly,... OMIM:251300
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Growth delay, Short finger, Abnormality of long bone morphology, Short toe, Abnormality of pelvic... OMIM:259270
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Sh... ORPHA:959
Microphthalmia ORPHA:35612
Bardet-Biedl Syndrome 1
Hirsutism, Gait imbalance, Rod-cone dystrophy, Hearing impairment, Foot polydactyly, Syndactyly, ... OMIM:209900
Monosomy 18P
Carious teeth, Hypertension, Micrognathia, Microphthalmia, Short stature, Ptosis, Holoprosencepha... ORPHA:1598
Marfan Syndrome
Malar flattening, Pes planus, Genu recurvatum, Limited elbow extension, Protrusio acetabuli, Camp... OMIM:154700
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Thin eyebrow, Short stature, Abnormality of nail color, Large hands, Abnormal dental enamel morph... ORPHA:3220
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Hearing impairment, Cerebellar hypoplasia, Gait disturbance, Infertility... ORPHA:412057
Mucopolysaccharidosis Type 4
Carious teeth, Gait disturbance, Short stature, Abnormality of epiphysis morphology, Bowing of th... ORPHA:582
Sjogren-Larsson Syndrome
Short stature, Opacification of the corneal epithelium, Macular degeneration, Retinal pigment epi... OMIM:270200
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Prolonged QT interval, Paresthesia, Ventricular arrhythmia, Myoclo... ORPHA:36913
Cornelia De Lange Syndrome 5
Hirsutism, Short stature, Telecanthus, Proximal placement of thumb, Hearing impairment, Postnatal... OMIM:300882
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Ptosis, Dysmetria, Progressive gait ataxia, Fasciculations, Macular degenerat... ORPHA:284289
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Highly arched eyebrow, Micrognathia, Chorioretinal coloboma, Microphth... OMIM:619135
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Malar flatt... OMIM:601559
Intellectual Developmental Disorder, Autosomal Recessive 39
Macrotia, Anteverted ears, Stereotypy OMIM:615541
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Ramos-Arroyo Syndrome
Carious teeth, Narrow palpebral fissure, Decreased corneal sensation, Upslanted palpebral fissure... ORPHA:1051
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Overfolded helix, Proximal plac... OMIM:609945
Dubowitz Syndrome
Carious teeth, Eczema, Telecanthus, Pes planus, Delayed eruption of teeth, Short palpebral fissur... OMIM:223370
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Fine hair, Microcornea, Microphthalmia, Short stature, Sclerocornea, ... ORPHA:1806
Branchio-Oculo-Facial Syndrome
Conductive hearing impairment, Intrauterine growth retardation, Short stature, Ptosis, Upslanted ... ORPHA:1297
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Malar flattening, Downslanted palpebral fissures, Speech apraxia, S... OMIM:613670
Cockayne Syndrome Type 3
Carious teeth, Subdural hemorrhage, Increased blood pressure, Premature graying of hair, Conducti... ORPHA:90324
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Shor... OMIM:307200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Intrauterine growth retardation, Abnormality of the calcaneus, Short stature, Hypop... ORPHA:163966
Ankylosis, Limited elbow movement, Proximal tibial and fibular fusion OMIM:177300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Microphthalmia, Polydactyly, Epicanthus, Downslanted palpebral fissures, Syndactyl... OMIM:602501
Codas Syndrome
Crumpled ear, Short stature, Ptosis, Abnormality of epiphysis morphology, Overfolded helix, Epica... ORPHA:1458
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Protruding ear, Polydactyly, Short stature, Delayed closure of the anterior fontanelle, Lower lim... ORPHA:231140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Micro Syndrome
Microcornea, Optic atrophy, Micrognathia, Abnormality of retinal pigmentation, Intrauterine growt... ORPHA:2510
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Congenital stationary night blindness,... ORPHA:90646
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Anteverted ears, Postaxial polydactyly, Poor coordination, Abnormality of pain ... ORPHA:544254
2Q31.1 Microdeletion Syndrome
Broad hallux phalanx, Abnormality of the ulna, Abnormal hair morphology, Short stature, Short pal... ORPHA:251014
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Telecanthus, Malar flattening, Peters anomaly, Short palpebral fissure, Hydrocephalus,... OMIM:612582
4Q21 Microdeletion Syndrome
Toe syndactyly, Intrauterine growth retardation, Growth delay, Ptosis, Long eyelashes, Small hand... ORPHA:238750
Alpha-Mannosidosis, Infantile Form
Clumsiness, Bilateral coxa valga, Abnormality of the sphenoid sinus, Highly arched eyebrow, Optic... ORPHA:309282
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Postaxial polydactyly, Bone spicule pigmentation of the retin... OMIM:614500
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short stature, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Telecant... OMIM:617102
Autosomal Recessive Cutis Laxa Type 2A
Pes planus, Hearing impairment, Postnatal growth retardation, Cerebellar malformation, Delayed cr... ORPHA:357058
Warburg Micro Syndrome 2
Microcornea, Optic atrophy, Developmental cataract, Microphthalmia, Low anterior hairline, Asymme... OMIM:614225
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lacrimal duct aplasia, Split han... DECIPHER:46
Multiple Sulfatase Deficiency
Broad hallux phalanx, Abnormality of retinal pigmentation, Optic atrophy, Short stature, Coarse h... ORPHA:585
Marden-Walker Syndrome
Dandy-Walker malformation, Micrognathia, Intrauterine growth retardation, Microphthalmia, Talipes... OMIM:248700
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Short stature, Parotitis, Elevated circulating thyroid-stimulating hormone concent... OMIM:256040
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Limb-Mammary Syndrome
Psoriasiform dermatitis, Toe syndactyly, Absent lacrimal punctum, Hypoplastic nipples, Protruding... ORPHA:69085
Acitretin/Etretinate Embryopathy
Micrognathia, Third degree atrioventricular block, Aplasia/Hypoplasia of the maxilla, Abnormality... ORPHA:40366
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Microphthalm... ORPHA:891
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Intrauterine growth retardation, Polydactyly, Epicanthus, Hypoplas... OMIM:616910
Mosaic Trisomy 1
Deviation of the 5th toe, Broad toe, Complete duplication of thumb phalanx, Camptodactyly of fing... ORPHA:1692
Hallermann-Streiff Syndrome
Sparse eyelashes, Malar flattening, Iris coloboma, Sparse and thin eyebrow, Low-set ears, Sparse ... OMIM:234100
Mietens Syndrome
Microcornea, Metatarsus adductus, Elbow ankylosis, Talipes, Sclerocornea, Avascular necrosis of t... ORPHA:2557
Au-Kline Syndrome
Ptosis, Postaxial polydactyly, Sparse lateral eyebrow, Craniosynostosis, Downslanted palpebral fi... OMIM:616580
Adducted Thumbs Syndrome
Cleft palate, High, narrow palate, Velopharyngeal insufficiency, High palate OMIM:201550
Biotinidase Deficiency
Lethargy, Optic atrophy, Seborrheic dermatitis, Diffuse cerebellar atrophy, Alopecia, Sensorineur... OMIM:253260
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Intrauterine growth retardation ORPHA:1980
Mucopolysaccharidosis, Type Vii
Metatarsus adductus, Hirsutism, Talipes equinovarus, Short stature, Recurrent otitis media, Coars... OMIM:253220
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Short statu... OMIM:251270
Congenital Primary Aphakia
Microphthalmia, Retinal dysplasia, Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting... ORPHA:83461
Smith-Magenis syndrome
Stereotypy DECIPHER:8
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Spastic Paraplegia 81, Autosomal Recessive
Cleft palate, Bifid uvula OMIM:618768
Focal Dermal Hypoplasia
Abnormal dental enamel morphology, Finger syndactyly, Hearing impairment, Iris coloboma, Camptoda... ORPHA:2092
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Telecanthus, Joint contracture of the hand, Short palpebral fissure, Camptodactyly... OMIM:612513
Bresek Syndrome
Protruding ear, Intrauterine growth retardation, Growth delay, Microphthalmia, Optic nerve hypopl... ORPHA:85284
Basel-Vanagaite-Smirin-Yosef Syndrome
2-3 toe syndactyly, Finger syndactyly, Low-set ears, Microphthalmia, Epicanthus, Downslanted palp... ORPHA:464738
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Hurler-Scheie Syndrome
Short stature, Rhinitis, Cardiomyopathy, Sensorineural hearing impairment, Corneal opacity, Gener... ORPHA:93476
Multiple Sulfatase Deficiency
Cerebellar atrophy, Retinal degeneration, Short stature, Hearing impairment, Ataxia, Corneal opac... OMIM:272200
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Clonus, Hip contracture, Talipes equinovarus, Ptosis, Hand clenching, Long eyelash... OMIM:617301
Ogden Syndrome
Fine hair, Torticollis, Abnormal head movements, Macrotia, Downslanted palpebral fissures, Low-se... ORPHA:276432
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
17Q23.1Q23.2 Microdeletion Syndrome
Short stature, Chronic otitis media, Malar flattening, Pes planus, Hearing impairment, Coxa magna... ORPHA:261279
Joubert Syndrome 37
Microphthalmia, Short stature, Postaxial polydactyly, Ptosis, Obesity, Posteriorly rotated ears, ... OMIM:619185
Isolated Osteopoikilosis
Abnormal pelvis bone ossification, Abnormality of femur morphology, Sclerosis of foot bone, Scler... ORPHA:166119
Hypertrichosis Cubiti
Abnormality of the elbow, Ptosis, Rhizomelia, Downslanted palpebral fissures, Abnormal eyelid mor... ORPHA:2220
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Hirsutism, Short stature, Hooded eyelid, Proximal placement of thumb,... OMIM:610759
Foxg1 Syndrome
Dystonia, Severe postnatal growth retardation, Short stature, Choreoathetosis, Optic disc hypopla... ORPHA:561854
Usher Syndrome Type 3
Sensorineural hearing impairment, Ataxia, Iris hypopigmentation, Cataract, Vestibular hypofunctio... ORPHA:231183
Mosaic Trisomy 8
Micrognathia, Protruding ear, Patellar aplasia, Short stature, Narrow pelvis bone, Abnormality of... ORPHA:96061
Hartsfield Syndrome
Intrauterine growth retardation, Microphthalmia, Lobar holoprosencephaly, Ptosis, Aplasia/Hypopla... ORPHA:2117
Juvenile Sialidosis Type 2
Optic atrophy, Cherry red spot of the macula, Dysmetria, Myoclonus, Lower limb spasticity, Hearin... ORPHA:93399
Arthrogryposis, Distal, Type 1C
Cleft palate, High palate, Thin vermilion border, Bifid uvula, Pursed lips, Cleft lip, Narrow mouth OMIM:619110
Bardet-Biedl Syndrome 4
Retinal degeneration, Polydactyly, Rod-cone dystrophy, Hypogonadism, Syndactyly, Obesity, Cryptor... OMIM:615982
Peroxisome Biogenesis Disorder 5A (Zellweger)
Metatarsus adductus, Micrognathia, Pigmentary retinopathy, Intrauterine growth retardation, Talip... OMIM:614866
Fine hair, Opacification of the corneal stroma, Sparse eyelashes, Hypoplastic nipples, Short stat... OMIM:211370
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Sparse eyelashes, Alopecia, Malar flattening, Telecanthus, Preaxial ... OMIM:129540
Mohr-Tranebjaerg Syndrome
Optic atrophy, Vestibular dysfunction, Babinski sign, Dystonia, Abnormal cochlea morphology, Orom... ORPHA:52368
Hurler Syndrome
Short stature, Cerebral palsy, Hearing impairment, Hydrocephalus, Camptodactyly of finger, Abnorm... ORPHA:93473
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft lip, Cleft palate, Lip pit ORPHA:1072
Skin Creases, Congenital Symmetric Circumferential, 1