Gene: Fign MGI:1890647

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

fidgetin

Synonyms:

Fgn

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Fign (0 diseases)
Human diseases predicted to be associated with Fign (1651 diseases)

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	Matching phenotypes	Source
Syngnathia	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
Trichothiodystrophy	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
Galactosialidosis	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
Alpha-Mannosidosis	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
Autism	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
Tularemia	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
Nanophthalmos	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
Trichinellosis	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
Frontorhiny	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
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	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

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