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
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Temtamy Preaxial Brachydactyly Syndrome
Abnormally large globe, Optic atrophy, Micrognathia, Abnormal optic disc morphology, Tibial devia... ORPHA:363417
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Lacrimoauriculodentodigital Syndrome
Absent thumb, Conductive hearing impairment, Toe syndactyly, Micrognathia, Keratoconjunctivitis s... 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
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Lacrimoauriculodentodigital Syndrome 1
Hypoplastic lacrimal duct, 2-3 finger syndactyly, Radial deviation of the 3rd finger, Broad hallu... OMIM:149730
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Multiple Synostoses Syndrome 1
2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive hearing... OMIM:186500
Kid Syndrome
Prelingual sensorineural hearing impairment, Corneal erosion, Coxa valga, Acne inversa, Keratocon... ORPHA:477
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Microphthalmia With Limb Anomalies
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos... ORPHA:1106
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Optic atrophy, Short metacarpal, Synophrys, Clinodactyly, Radioulnar synostosis, Carp... OMIM:605282
Nail-Patella Syndrome
Biceps aplasia, Patellar dislocation, Triceps aplasia, Glomerulonephritis, Absent distal interpha... OMIM:161200
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Increased bone mineral density, Flared ilia... ORPHA:90652
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Spina bifida occulta, Iris coloboma, Phthisis bulbi, Microphakia, Rod-co... OMIM:612109
Sheldon-Hall Syndrome
Round ear, Short stature, Ulnar deviation of the wrist, Micrognathia, Ulnar deviation of finger, ... ORPHA:1147
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Premature graying of hair, Ocular albinism, White eyelashes, Ap... OMIM:611584
Pierpont Syndrome
Broad foot, Decreased body weight, Chiari malformation, Prominent subcalcaneal fat pad, Large fle... OMIM:602342
Crouzon Syndrome
Conjunctivitis, Conductive hearing impairment, Narrow internal auditory canal, Chiari malformatio... ORPHA:207
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Hand clenching, Coloboma, Small for gest... ORPHA:1617
Kniest Dysplasia
Dumbbell-shaped long bone, Vitreoretinopathy, Delayed patellar ossification, Enlarged joints, Dis... ORPHA:485
Cofs Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Sensorineural hearing impairment, ... ORPHA:1466
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, Unilateral cryptorchidism, 2-3 toe cutane... OMIM:206920
Cockayne Syndrome Type 2
Conjunctivitis, Enamel hypoplasia, Macrotia, Flexion contracture, Mandibular prognathia, Delayed ... ORPHA:90322
Spondylo-Ocular Syndrome
Abnormal antihelix morphology, Abnormal eyebrow morphology, Short stature, Iris hypopigmentation,... ORPHA:85194
Pierpont Syndrome
Chiari malformation, Uplifted earlobe, Deep palmar crease, Telecanthus, Hearing impairment, Poste... ORPHA:487825
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorineural hearing impairment,... ORPHA:1307
Noonan Syndrome
Downslanted palpebral fissures, Sensorineural hearing impairment, Short stature, Coarse hair, Mic... ORPHA:648
Zika Virus Disease
Wrist swelling, Conjunctivitis, Myelitis, Transient hearing impairment, Arthritis, Retinal pigmen... ORPHA:448237
Humero-Radial Synostosis
Meningocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Elbow ankylos... ORPHA:3265
Muenke Syndrome
Sensorineural hearing impairment, Short foot, Coronal craniosynostosis, Hydrocephalus, Carpal syn... ORPHA:53271
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Elbow ... OMIM:305620
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Microtia, Micrognathia, Abnormal metacarpal morphology, Abnormal pelvic girdle... ORPHA:3429
Proximal Symphalangism
Camptodactyly of finger, Metacarpophalangeal synostosis, Sensorineural hearing impairment, Finger... ORPHA:3250
Mucolipidosis Type Iii
Hearing abnormality, Short stature, Large iliac wing, Hypoplastic inferior ilia, Craniofacial hyp... ORPHA:577
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Brachydactyly, Type B2
Proximal symphalangism of hands, Absent phalangeal crease, Aplasia/Hypoplasia of the middle phala... OMIM:611377
Tarsal-Carpal Coalition Syndrome
Proximal symphalangism of hands, Hearing abnormality, Progressive fusion 2nd-5th pip joints, Hume... OMIM:186570
Warburg Micro Syndrome 1
Macrotia, Optic atrophy, Short stature, Cerebellar hypoplasia, Micrognathia, Developmental catara... OMIM:600118
Cleft Palate, Isolated
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Xeroderma Pigmentosum, Complementation Group D
Conjunctivitis, Telangiectasia, Sensorineural hearing impairment, Entropion, Keratoconjunctivitis... OMIM:278730
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Short stature, Hydrocephalus, Ataxia, Impaired pain sensation, Al... ORPHA:1532
Harel-Yoon Syndrome
Mandibular prognathia, Optic atrophy, Inability to walk, Hip dysplasia, Micrognathia, Delayed spe... OMIM:617183
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Short stature, Cerebellar hypoplasia, Micrognathia, Macular atrophy, ... OMIM:616171
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Autosomal Dominant Keratitis
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Corneal neovascularization, Abnormal c... ORPHA:2334
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Small hand, 2-5 finger cutaneous syndactyly, Ankyloblepharon, Micrognathi... OMIM:619339
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Knee flexion contracture, Downslanted palpebral fissures, Vertebral fusion, Hip contracture, Shor... OMIM:178110
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abn... ORPHA:2370
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, ... ORPHA:93307
Charge Syndrome
Gonadotropin deficiency, Coloboma, Micrognathia, Lop ear, Parathyroid hypoplasia, Iris coloboma, ... OMIM:214800
Spondylocarpotarsal Synostosis Syndrome
Delayed skeletal maturation, Limited elbow extension, Scapular winging, Disproportionate short-tr... OMIM:272460
Cockayne Syndrome Type 1
Foot joint contracture, Optic atrophy, Difficulty walking, Hypoplasia of the primary teeth, Heari... ORPHA:90321
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
High anterior hairline, Tapered finger, Delayed speech and language development, Thin eyebrow, Re... OMIM:618147
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Shoulder dislocation, Lagophthalmos, Tarsal sclerosis, Coxa valga, Cone/cone-rod dystrophy, Optic... ORPHA:404454
Otodental Syndrome
Abnormal molar morphology, Periodontitis, Retinal coloboma, Delayed eruption of teeth, Pulp calci... ORPHA:2791
Cleft Palate-Lateral Synechia Syndrome
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth ORPHA:2016
Tiger tail banding, Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Epic... ORPHA:33364
Acromesomelic Dysplasia, Hunter-Thompson Type
Patellar dislocation, Short metacarpal, Short thumb, Cuboidal metacarpal, Hip dislocation, Joint ... ORPHA:968
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal antihelix morphology, Conductive hearing impairment, Flexion contracture, Chiari malform... ORPHA:95699
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Abnormality of the ankle, Abnormality of the wrist, Carp... ORPHA:2010
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
S-shaped palpebral fissures, Thick eyebrow, Telecanthus, Decreased fertility, Ectopic lacrimal pu... ORPHA:572333
Frontonasal Dysplasia 1
Anterior basal encephalocele, Conductive hearing impairment, Cranium bifidum occultum, Coloboma, ... OMIM:136760
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Downslanted palpebral fissures, Microtia, Synophrys, Micrognathia, Long palpebral... OMIM:602562
Mesomelia-Synostoses Syndrome
Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormality of the ankle, Telecant... ORPHA:2496
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Lipomas of eyelids, Coloboma, Lacrimal punctal atresia, Widow's peak, Clinodactyl... ORPHA:2399
Cerebrooculofacioskeletal Syndrome 3
Cerebellar hypoplasia, Micrognathia, Intrauterine growth retardation, Microphthalmia, Rocker bott... OMIM:616570
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Corneal opacity, Hearing impairment, Cherry red spot of the macula ORPHA:351
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Short stature, Synostosis of carpal bones, Abnormal morphology ... ORPHA:2639
Temtamy Syndrome
Genu varum, Short toe, Micrognathia, Clinodactyly of the 5th finger, Iris coloboma, Joint hyperfl... ORPHA:1777
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Paresthesia, Short stature, Micrognathia, Malar prominence, Long eyelash... ORPHA:48431
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Muckle-Wells Syndrome
Conjunctivitis, Recurrent aphthous stomatitis, Short stature, Progressive sensorineural hearing i... OMIM:191900
22Q11.2 Deletion Syndrome
Meningocele, Conductive hearing impairment, Hypoplasia of the thymus, Patellar dislocation, Optic... ORPHA:567
Dysplasia Epiphysealis Hemimelica
Genu varum, Genu valgum, Recurrent fractures, Flattened femoral head, Accelerated skeletal matura... ORPHA:1822
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Short stature, Hypoplasia of the radius, Carpal ... OMIM:112910
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar aplasia, Patellar dislocation, Coxa vara, Short stature, Micrognath... OMIM:147891
Orofaciodigital Syndrome Type 1
Epicanthus, Micrognathia, Coarse hair, Postaxial hand polydactyly, Sparse hair, Telecanthus, Hear... ORPHA:2750
20P13 Microdeletion Syndrome
Downslanted palpebral fissures, Polydactyly, Retinopathy, Hypoplastic helices, Decreased body wei... ORPHA:313781
Dental malocclusion, Macrotia, Avascular necrosis, Mandibular prognathia, Arthritis, Hypoplastic ... ORPHA:61
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Radial deviation of the hand, Short 4th finger, Retrognathia, Micrognathi... ORPHA:2756
Erythrokeratodermia Variabilis
Alopecia, Tapered finger, Weight loss, Abnormal testis morphology, Short stature, Skin rash, Cata... ORPHA:317
Dermatoosteolysis, Kirghizian Type
Dystrophic toenail, Abnormal metaphysis morphology, Abnormal foot morphology, Abnormality of the ... ORPHA:1657
Developmental Delay With Variable Neurologic And Brain Abnormalities
Knee flexion contracture, Macrotia, Sparse lateral eyebrow, Micrognathia, Delayed speech and lang... OMIM:619694
Distal Monosomy 10Q
Tapered finger, Epicanthus, Micrognathia, Hip dislocation, Morphological abnormality of the vesti... ORPHA:96148
Symphalangism, Proximal, 1A
Proximal symphalangism of hands, Metacarpophalangeal synostosis, Stapes ankylosis, Conductive hea... OMIM:185800
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Hypogonadism, Epicanthus, Short stature, Microcornea, Cataract, Growth delay, Micro... ORPHA:2528
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... ORPHA:1991
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Winchester Syndrome
Arthropathy, Generalized osteoporosis, Hirsutism, Broad metacarpals, Corneal opacity, Carpal oste... OMIM:277950
Autosomal Recessive Cutis Laxa Type 2A
Delayed cranial suture closure, Inability to walk, Hearing impairment, Postnatal growth retardati... ORPHA:357058
Apert Syndrome
Morphological abnormality of the semicircular canal, Downslanted palpebral fissures, Aplasia/Hypo... ORPHA:87
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uveitis,... OMIM:617388
Cerebrooculofacioskeletal Syndrome 1
Flexion contracture, Coxa valga, Delayed eruption of teeth, Micrognathia, Elbow flexion contractu... OMIM:214150
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Increased susceptibility to fractures, Crumpled long bones, Short st... ORPHA:2788
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Lens subluxation, Arachnodactyly, Retinal detachme... ORPHA:171844
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Micrognathia, Repetitive compulsive behavior, Eczema, Arthrogryposis multiplex congen... ORPHA:352490
Muckle-Wells Syndrome
Camptodactyly of finger, Conjunctivitis, Broad foot, Recurrent aphthous stomatitis, Optic atrophy... ORPHA:575
Jackson-Weiss Syndrome
Broad first metatarsal, 2-3 toe syndactyly, Broad distal phalanx of the hallux, Short first metat... OMIM:123150
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Posterior embryotoxon, Optic atrophy, Ptosis, Iris coloboma, Ca... ORPHA:1473
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Short stature, Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Iris colob... OMIM:610023
Multicentric Carpotarsal Osteolysis Syndrome
Wrist swelling, Ulnar deviation of the hand or of fingers of the hand, Inability to walk, Wrist p... OMIM:166300
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Mesomelic Dysplasia, Nievergelt Type
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... ORPHA:2633
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Short stature, Dumbbell-shaped humerus, Abnormality of the humerus, Syno... ORPHA:1836
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... ORPHA:171673
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Gait ataxia, Mandibular prognathia, Optic atrophy, Spastic gait, Hip dysplasia, Micrognathia, Pos... ORPHA:496790
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Wrist flexion contracture, Abnormal retinal morphology, Decreased body w... OMIM:610758
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Coloboma, Absent lacrimal punctum, ... OMIM:167730
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, 2-3 toe syndactyly, Mandibular prognathia, Micrognathia, Delayed speech and languag... OMIM:618914
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Bardet-Biedl Syndrome 16
Polydactyly, Rod-cone dystrophy, Hypogonadism, Short stature, Retinal degeneration, Recurrent oti... OMIM:615993
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Downslanted palpebral fissures, Retinal fold, Upslanted palpebral fissure, Mandibular prognathia,... OMIM:152950
Warburg-Cinotti Syndrome
Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Conductive hearing im... OMIM:618175
Moebius Syndrome
Short phalanx of finger, Epicanthus, Micrognathia, Camptodactyly, Radial deviation of finger, Art... OMIM:157900
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Sensorineural hearing impairment, Corneal opacity ORPHA:1490
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, T... OMIM:618469
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flexion contracture, Tapered finger, Micrognathia, Keratoconjunctivitis sicca, Hip dislocation, P... OMIM:616007
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Coxa valga, Optic nerve hypoplasia, Talipes equinovalgus, Abnormal left ventricular function, Hir... OMIM:301056
Gombo Syndrome
Microphthalmia OMIM:233270
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conjunctivitis, 2-3 toe syndactyly, Sparse body hair, Conductive hearing impairment, Absent eyela... OMIM:106260
Chromosome 3Pter-P25 Deletion Syndrome
Tapered finger, Epicanthus, Synophrys, Micrognathia, Overlapping toe, Prominent metopic ridge, He... OMIM:613792
Poikiloderma With Neutropenia
Micrognathia, Recurrent sinusitis, Skin rash, Recurrent otitis media, Low posterior hairline, Car... OMIM:604173
Spinocerebellar Ataxia, Autosomal Recessive 31
Retrognathia, Retinopathy, Optic atrophy, Cerebellar hypoplasia, Delayed speech and language deve... OMIM:619422
Norrie Disease
Optic atrophy, Cachexia, Ectopia lentis, Abnormal vitreous humor morphology, Aplasia/Hypoplasia o... ORPHA:649
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Radial de... OMIM:609441
Temtamy Syndrome
Downslanted palpebral fissures, Lens luxation, Micrognathia, Hypoplasia of teeth, Lop ear, Hip di... OMIM:218340
Trichothiodystrophy 4, Nonphotosensitive
Decreased fertility, Retrognathia, Macrotia, Trichorrhexis nodosa, Optic atrophy, Epicanthus, Bri... OMIM:234050
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Cat-Eye Syndrome
Downslanted palpebral fissures, Short stature, Hip dysplasia, Iris coloboma, Microphthalmia, Chor... ORPHA:195
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Bronchiectasis, Epicanthus, Hepatitis, Arthritis, Skin rash, Exter... ORPHA:33110
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
X-Linked Agammaglobulinemia
Conjunctivitis, Alopecia, Sensorineural hearing impairment, Osteomyelitis, Weight loss, Short sta... ORPHA:47
Fryns Microphthalmia Syndrome
Microphthalmia, Abnormality of the ear, Macrotia, Anophthalmia OMIM:600776
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Obtuse angle of mandi... ORPHA:2741
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Genu valgum, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
48,Xxyy Syndrome
Epicanthus, Delayed eruption of teeth, Taurodontia, Elbow dislocation, Abnormal shoulder morpholo... ORPHA:10
Short Syndrome
Abnormal pupil morphology, Alopecia, Megalocornea, Sensorineural hearing impairment, Posterior em... ORPHA:3163
Sandestig-Stefanova Syndrome
Retrognathia, Epicanthus, Underdeveloped tragus, Small for gestational age, Clinodactyly, Camptod... OMIM:618804
Crouzon Syndrome
Conjunctivitis, Sagittal craniosynostosis, Conductive hearing impairment, Mandibular prognathia, ... OMIM:123500
Mucoepithelial Dysplasia, Hereditary
Alopecia, Keratoconjunctivitis, Corneal neovascularization, Chronic mucocutaneous candidiasis, Re... OMIM:158310
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... ORPHA:70476
Rubinstein-Taybi Syndrome
Epicanthus, Micrognathia, Abnormal distal phalanx morphology of finger, Telecanthus, Hearing impa... ORPHA:783
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Epicanthus, Blepharophimosis, Broad eyebrow, Hip dysplasia, Micrognathia, Intraute... ORPHA:494344
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Conjunctivitis, Sparse eyebrow, Enamel hypoplasia, Alopecia, Folliculitis, Scarring alopecia of s... OMIM:612843
Sialidosis Type 2
Pedal edema, Flexion contracture, Abnormal macular morphology, Short stature, Delayed speech and ... ORPHA:87876
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Periorbital dermoid cyst, Lacrimal duct stenosis, Conjunctivitis, Dental malocclusion, Tapered fi... OMIM:615560
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the eyebrow,... ORPHA:1794
Cohen Syndrome
Tapered finger, Optic atrophy, Micrognathia, Iris coloboma, Abnormal eyelash morphology, Thick ey... ORPHA:193
Multiple Synostoses Syndrome 3
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... OMIM:612961
Christianson Syndrome
Gait ataxia, Aplasia/Hypoplasia of the cerebellum, Macrotia, Mandibular prognathia, Truncal ataxi... ORPHA:85278
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Purulent rhinitis, Arthritis, Failure to thrive, Otitis media, Failure to thrive ... OMIM:601457
Carpenter Syndrome 1
Conductive hearing impairment, Coxa valga, Lateral displacement of patellae, Optic atrophy, Epica... OMIM:201000
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Delayed eruption of teeth, Ectopia lentis, Iris coloboma, Hearing impairment,... ORPHA:2712
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, I... ORPHA:2839
Dyggve-Melchior-Clausen Disease
Hypoplastic acetabulae, Inability to walk, Difficulty walking, Limited elbow extension, Abnormali... ORPHA:239
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Adams-Oliver Syndrome 2
Retrocerebellar cyst, Alopecia, Optic atrophy, Cerebellar hypoplasia, Micrognathia, Delayed speec... OMIM:614219
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity, Ataxia, Progressive cerebellar ataxia ORPHA:3177
Oculodentodigital Dysplasia, Autosomal Recessive
Epicanthus, Delayed eruption of teeth, Micrognathia, Broad long bones, Delayed skeletal maturatio... OMIM:257850
Cousin Syndrome
Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Micrognathia, Camptodacty... OMIM:260660
Dermatitis, Atopic
Conjunctivitis, Allergic rhinitis, Eczema, Cataract, Recurrent skin infections, Keratoconus, Atop... OMIM:603165
Pseudohypoparathyroidism Type 1A
Short 4th metacarpal, Delayed eruption of teeth, Increased bone mineral density, Choreoathetosis,... ORPHA:79443
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metatarsal synostosis, Cl... ORPHA:93406
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Horizontal eyebrow, Short stature, Epicanthus, Inability to walk, Inferior cerebellar vermis hypo... OMIM:618571
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Small for gestational age, Micrognathia, Developmental cataract, Catarac... OMIM:610756
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Delayed cranial suture closure, Aplastic clavicle, Wide anterior fontanel, Coronal craniosynostos... ORPHA:85199
Fontaine Progeroid Syndrome
Conductive hearing impairment, Recurrent aspiration pneumonia, Synophrys, Micrognathia, Delayed s... OMIM:612289
Fatco Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Abnormality of tibia morphology, Split hand,... ORPHA:2492
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Corneal opacity, Large for gestational age, Microcornea ORPHA:2432
Intellectual Developmental Disorder, Autosomal Dominant 23
Downslanted palpebral fissures, Synophrys, Micrognathia, Delayed speech and language development,... OMIM:615761
Microtriplication 11Q24.1
Synophrys, Metatarsus adductus, Thick eyebrow, Hearing impairment, Talipes equinovarus, Posterior... ORPHA:289522
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip ORPHA:2736
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ... OMIM:253010
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Warburg Micro Syndrome 3
Ankle clonus, Macrotia, Flexion contracture, Optic atrophy, Inability to walk, Decreased testicul... OMIM:614222
Baraitser-Winter Syndrome 1
Retrognathia, Sensorineural hearing impairment, Short stature, Epicanthus, Low posterior hairline... OMIM:243310
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Wide anterior fontanel, Abnormality of the elbow, Abnormality of cranial sutures, Epi... ORPHA:163649
Orofaciodigital Syndrome X
Retrognathia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Telecant... OMIM:165590
Igg4-Related Ophthalmic Disease
Prostatitis, Abnormal lacrimal gland morphology, Abnormality of the extraocular muscles, Sialaden... ORPHA:449563
Bardet-Biedl Syndrome 5
Polydactyly, Rod-cone dystrophy, Hypogonadism, Syndactyly, Brachydactyly, Obesity, Macular dystrophy OMIM:615983
Transketolase Deficiency
Conjunctivitis, Secondary amenorrhea, Delayed speech and language development, Uveitis, Absent sp... ORPHA:488618
De Barsy Syndrome
Delayed closure of the anterior fontanelle, Epicanthus, Delayed eruption of teeth, Delayed skelet... ORPHA:2962
Sponastrime Dysplasia
Hip subluxation, Broad foot, Microcoria, Chiari malformation, Epicanthus, Flat capital femoral ep... ORPHA:93357
Synpolydactyly 2
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Martsolf Syndrome 1
Short phalanx of finger, Finger joint hypermobility, Epicanthus, Micrognathia, Cardiac arrest, Me... OMIM:212720
Acropectorovertebral Dysplasia
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... ORPHA:957
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Trisomy 13
Abnormal antihelix morphology, Chiari malformation, Optic atrophy, Aplasia/Hypoplasia of the iris... ORPHA:3378
Chromosome 16Q22 Deletion Syndrome
Short palpebral fissure, Sensorineural hearing impairment, Wide anterior fontanel, Epicanthus, Sm... OMIM:614541
Nievergelt Syndrome
Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Mesomelic short stature, Tarsal synost... OMIM:163400
De Sanctis-Cacchione Syndrome
Conjunctivitis, Telangiectasia, Sensorineural hearing impairment, Entropion, Optic atrophy, Bilat... OMIM:278800
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Arthrogryposis, Distal, Type 1A
Ulnar deviation of the hand or of fingers of the hand, Elbow flexion contracture, Camptodactyly, ... OMIM:108120
Congenital Rubella Syndrome
Sensorineural hearing impairment, Short stature, Aplasia/Hypoplasia of the iris, Skin rash, Abnor... ORPHA:290
3P25.3 Microdeletion Syndrome
Tapered finger, Epicanthus, 2-3 finger syndactyly, Micrognathia, Overlapping toe, Broad hallux, B... ORPHA:435638
8Q21.11 Microdeletion Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Finger syndactyly, Epicanthus, Blepharop... ORPHA:284160
Immunodeficiency, Common Variable, 3
Conjunctivitis, Recurrent sinusitis, Recurrent otitis media OMIM:613493
Multicentric Osteolysis, Nodulosis, And Arthropathy
Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed eruption of teeth,... OMIM:259600
Gm1 Gangliosidosis
Camptodactyly of finger, Optic atrophy, Hirsutism, Abnormal metaphysis morphology, Unsteady gait,... ORPHA:354
Usmani-Riazuddin Syndrome, Autosomal Recessive
Epicanthus, Delayed speech and language development, Joint laxity, Posteriorly rotated ears, Low-... OMIM:619548
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Arboleda-Tham Syndrome
Optic atrophy, Epicanthus, Recurrent aspiration pneumonia, Prominent antihelix, Short hallux, Ant... OMIM:616268
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Pseudoepiphyses, Epicanthus, Delayed skeletal maturation, Congenit... OMIM:157800
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Downslanted palpebral fissures, Epicanthus, Synophrys, Micrognathia, Delayed speech and language ... ORPHA:480907
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis, Tarsal synostosis, Joint stiffness, Posterior fusion of lumbosacral vertebrae ORPHA:2064
Oculocerebrocutaneous Syndrome
Alopecia, Aplasia/Hypoplasia of the distal phalanges of the toes, Finger syndactyly, Cerebellar h... ORPHA:1647
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Short stature, Radioulnar synostosis, Clinodactyly of the 5th finger, Limitation of joint mobilit... ORPHA:2725
Aniridia 1
Ectopia pupillae, Corneal erosion, Bilateral ptosis, Retinal vascular tortuosity, Hypoplasia of t... OMIM:106210
Bardet-Biedl Syndrome 13
Polydactyly, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal ... OMIM:615990
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Synophrys, Eczema, Hirsutism, Sparse hair, Chronic otitis media, Hearing impairment, Postnatal gr... OMIM:300966
Multiple Synostoses Syndrome 4
Broad foot, Otosclerosis, Overlapping toe, Brachydactyly, Tarsal synostosis, Pes planus OMIM:617898
Microphthalmia, Syndromic 13
Short stature, Microcornea, Ptosis, Iris coloboma, Anteverted ears, Microphthalmia, Chorioretinal... OMIM:300915
Palmoplantar Carcinoma, Multiple Self-Healing
Finger joint hypermobility, Limbal stem cell deficiency, Corneal neovascularization, Chronic rhin... OMIM:615225
Talonavicular Coalition
Foot pain, Proximal/middle symphalangism of 5th finger, Coalescence of tarsal bones, Clinodactyly... OMIM:186750
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Small for gestational age, Upper limb phocomelia, Syndactyly, Abnormal hip bone morp... ORPHA:294975
Bardet-Biedl Syndrome 11
Retinopathy, Polydactyly, Obesity, Hypogonadism OMIM:615988
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Zellweger Syndrome
Brushfield spots, Sensorineural hearing impairment, Wide anterior fontanel, Optic atrophy, Epican... ORPHA:912
Usher Syndrome Type 1
Aplasia/Hypoplasia of the cerebellum, Sensorineural hearing impairment, Iris hypopigmentation, At... ORPHA:231169
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Delayed eruption of teeth, Micrognathia, Palmoplantar hyperkerato... OMIM:601812
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Tiger tail banding, Keratoconjunctivitis sicca, Erythroderma, Sparse hair, T... OMIM:601675
Familial Cold Autoinflammatory Syndrome 1
Conjunctivitis, Arthritis, Skin rash, Uveitis, Hearing impairment OMIM:120100
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Joubert Syndrome 10
Downslanted palpebral fissures, Rod-cone dystrophy, Epicanthus, Hirsutism, Growth delay, Low-set ... OMIM:300804
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo ORPHA:71518
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia OMIM:240500
Waardenburg Syndrome, Type 4C
Sensorineural hearing impairment, Hypogonadism, Premature graying of hair, White eyelashes, White... OMIM:613266
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula OMIM:258320
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Familial Cold Urticaria
Conjunctivitis, Arthritis, Sensorineural hearing impairment, Dysesthesia ORPHA:47045
Orofaciodigital Syndrome Xvii
Retrognathia, Polydactyly, Decreased body weight, Short stature, Short middle phalanx of the 2nd ... OMIM:617926
Mullegama-Klein-Martinez Syndrome
Polydactyly, High anterior hairline, Sensorineural hearing impairment, Short stature, Microtia, M... OMIM:301022
Charge Syndrome
Optic atrophy, Epicanthus, Anterior hypopituitarism, Delayed eruption of teeth, Iris coloboma, Ho... ORPHA:138
Chondrodysplasia Punctata 2, X-Linked Dominant
Patellar dislocation, Epiphyseal stippling, Erythroderma, Bilateral talipes equinovarus, Sparse e... OMIM:302960
Clouston Syndrome
Conjunctivitis, Sparse eyebrow, Alopecia, Short stature, Brittle hair, Abnormal foot morphology, ... OMIM:129500
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Pes cavus, Cataract, Tremor, Growth delay, Microphthalmia OMIM:278780
Cutis Laxa, Autosomal Dominant 3
Delayed cranial suture closure, Talipes equinovarus, Hip dislocation, Developmental cataract, Wor... OMIM:616603
Synostoses, Tarsal, Carpal, And Digital
Metacarpophalangeal synostosis, Short metacarpal, Carpal synostosis, Aplasia/Hypoplasia of the mi... OMIM:186400
Megalocornea-Intellectual Disability Syndrome
Metatarsus valgus, Downslanted palpebral fissures, Genu varum, Megalocornea, Sensorineural hearin... ORPHA:2479
Gorham-Stout Disease
Mandibular pain, Osteomyelitis, Abnormal bone ossification, Abnormal finger morphology, Abnormal ... ORPHA:73
Joubert Syndrome 14
Meningocele, Coloboma, Optic atrophy, Epicanthus, Posteriorly rotated ears, Hydrocephalus, Ptosis... OMIM:614424
Microphthalmia With Brain And Digit Anomalies
Sensorineural hearing impairment, Finger syndactyly, Anophthalmia, Retinal dystrophy, Inferior ce... ORPHA:139471
Cockayne Syndrome
Somatic sensory dysfunction, Optic atrophy, Inability to walk, Retinal atrophy, Cachexia, Keratoc... ORPHA:191
Stickler Syndrome Type 2
Retinopathy, Sensorineural hearing impairment, Cataract, Corneal opacity, Retinal detachment, Abn... ORPHA:90654
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Wrist pain, Abnormal morphology of the radius, Radioulnar sy... ORPHA:3269
Bardet-Biedl Syndrome 9
Irregular menstruation, Polydactyly, Rod-cone dystrophy, Retinal degeneration, Delayed speech and... OMIM:615986
Neuroocular Syndrome
Lagophthalmos, Tapered finger, Synophrys, Lens coloboma, Iris coloboma, Peters anomaly, Blue irid... OMIM:619539
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Delayed eruption of teeth, Increased bone mineral density, Ectopic ossifica... ORPHA:79444
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2521
Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Patellar dislocation, Hallux valgus, Multiple joint contractures, Micrognath... ORPHA:536471
Smith-Magenis Syndrome
Conductive hearing impairment, Toe syndactyly, Synophrys, Micrognathia, Taurodontia, Hand polydac... ORPHA:819
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Suleiman-El-Hattab Syndrome
Downslanted palpebral fissures, Polydactyly, Epicanthus, Synophrys, Clinodactyly, Palpebral thick... OMIM:618950
Jacobsen Syndrome
Flexion contracture, Optic atrophy, Epicanthus, Micrognathia, Iris coloboma, Holoprosencephaly, A... OMIM:147791
Mesomelia-Synostoses Syndrome
Short phalanx of finger, Downslanted palpebral fissures, Progressive forearm bowing, Tarsometatar... OMIM:600383
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Recurrent pneumonia, Chronic sinusitis, Recurrent otitis media OMIM:612692
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Congenital Sialidosis Type 2
Polydactyly, Telangiectasia, Optic atrophy, Abnormal EKG, Generalized hypertrichosis, Hydrocephal... ORPHA:93400
Bardet-Biedl Syndrome 10
Polydactyly, Rod-cone dystrophy, Hypogonadism, Retinal dystrophy, Obesity OMIM:615987
Conjunctivitis, Erythema nodosum, Skin rash, Inflammatory abnormality of the eye, Cutaneous absce... ORPHA:3392
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Joint dislocation, Sensorineural hearing impairment, Small vessel vasculitis, Art... ORPHA:36412
Baraitser-Winter Syndrome 2
Retrognathia, Coloboma, Short stature, Long palpebral fissure, Ptosis, Hearing impairment, Microp... OMIM:614583
Incontinentia Pigmenti
Camptodactyly of finger, Delayed eruption of teeth, Supernumerary nipple, Spina bifida occulta, O... ORPHA:464
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Camptodactyly, Hearing impairment, Horizontal eyebrow, Frontal upsweep of hair, Ptosi... ORPHA:369891
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormal nasolacrimal system morphology, Corneal erosion, Scleritis, Ecz... ORPHA:2273
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short phalanx of finger, Coloboma, Cone/cone-rod dystrophy, Retinal atrophy, Narrow greater sciat... ORPHA:85167
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Sensorineural hearing impairment, Ulnar ... ORPHA:1529
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Rod-cone dystrophy, Hypogonadism, Clinodactyly, Malar flattening... OMIM:615984
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... ORPHA:163934
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal metaphysis morphology, Micrognathia, Cataract, Proximal placement of thumb, ... ORPHA:93267
Scheie Syndrome
Genu valgum, Mandibular prognathia, Retinal degeneration, Pes cavus, Aortic regurgitation, Cornea... OMIM:607016
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Abnormal eyelid morphology, Spastic ataxia, Spas... ORPHA:251282
Walker-Warburg Syndrome
Metatarsus valgus, Optic atrophy, Iris coloboma, Abnormal optic nerve morphology, Posteriorly rot... ORPHA:899
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Wrist flexion contracture, Macrotia, Flexion contracture, Small hand, Resting tre... OMIM:300055
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Echolalia, Bilateral ptosis, Recurrent hand flapping, Overlapping toe, Astigmatism, Low-set ears,... OMIM:620021
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Flexion contracture, Hypoplastic helices, Repetitive compulsive behavior, Speech articulation dif... ORPHA:391372
Chromosome 6Pter-P24 Deletion Syndrome
Epicanthus, Peters anomaly, Telecanthus, Rocker bottom foot, Posteriorly rotated ears, Short palp... OMIM:612582
Mucopolysaccharidosis Type 1
Retinopathy, Optic atrophy, Hypertrophic cardiomyopathy, Abnormal metaphysis morphology, Hearing ... ORPHA:579
Classical-Like Ehlers-Danlos Syndrome Type 2
Shoulder dislocation, Hallux valgus, Micrognathia, Keratoconjunctivitis sicca, Hip dislocation, E... ORPHA:536532
Microphthalmia ORPHA:35612
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Conjunctivitis, Sparse eyebrow, Dystrophic fingernails, Folliculitis, Scarring alopecia of scalp,... OMIM:308800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Coloboma, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Dandy-Walk... OMIM:613153
Nance-Horan Syndrome
Mandibular prognathia, Short metacarpal, Supernumerary tooth, Microcornea, Cataract, Microphthalm... ORPHA:627
Deafness, X-Linked 7
Unilateral microphthalmos, Stenosis of the external auditory canal, Hearing impairment, Posterior... OMIM:301018
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Lacrimal gland hypoplasia, Absent lacrimal punctum, Lacrimal gland aplasia OMIM:180920
Isolated Congenital Alacrima
Conjunctivitis, Corneal erosion, Distichiasis, Lacrimal punctal atresia, Ptosis, Lacrimal gland h... ORPHA:91416
Distal Monosomy 6P
Downslanted palpebral fissures, Posterior embryotoxon, Short foot, Epicanthus, Hypoplasia of the ... ORPHA:96125
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Tympanosclerosis, Pigmentary retinopathy, Atrophic gastritis, Enamel hypopla... OMIM:240300
Immunodeficiency, Common Variable, 8, With Autoimmunity
Conjunctivitis, Atrophic gastritis, Bronchiectasis, Erythema nodosum, Arthritis, Thyroiditis, Rec... OMIM:614700
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Abnormality of the ankle, Short stature ORPHA:1412
Immunodeficiency, Common Variable, 1
Conjunctivitis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia,... OMIM:607594
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Alopecia, Sensorineural hearing impairment, Short stature, Failure to thrive, Ery... OMIM:242150
X-Linked Dominant Chondrodysplasia Punctata
Flexion contracture, Patellar dislocation, Epiphyseal stippling, Hip dislocation, Upper limb asym... ORPHA:35173
Mietens Syndrome
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Echolalia, Hypoplasia... ORPHA:2557
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Short palpebral fissure, Aplasia of the distal phalanx of the 5th toe, Aplasia of ... ORPHA:364577
Rubinstein-Taybi Syndrome 1
Delayed cranial suture closure, Polydactyly, Flexion contracture, Patellar dislocation, Coloboma,... OMIM:180849
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Downslanted palpebral fissures, Sensorineural hearing impairment, Short ... OMIM:614230
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Epicanthus, Delayed eruption of teeth, Micrognathia, Prominent antihel... OMIM:268400
Bartsocas-Papas Syndrome
Absent thumb, Aplasia/Hypoplasia of the eyebrow, Finger syndactyly, Ankyloblepharon, Toe syndacty... ORPHA:1234
Monosomy 18P
Abnormal antihelix morphology, Alopecia, Macrotia, Short stature, Epicanthus, Micrognathia, Delay... ORPHA:1598
Acrootoocular Syndrome
Conductive hearing impairment, Epicanthus, Grayish enamel, Micrognathia, Delayed eruption of teet... ORPHA:2980
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short metatarsal, Short metacarpal, Angel-shaped phalanx, Short stature,... OMIM:617102
Lamb-Shaffer Syndrome
Optic atrophy, Epicanthus, Fused cervical vertebrae, Hip dysplasia, Micrognathia, Delayed speech ... ORPHA:530983
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Tapered finger, Coloboma, Epicanthus, Toe syndactyly, Synophrys, Microgn... ORPHA:251014
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Sensorineural hearing impairment, Patellar hypoplasia, Coloboma, Dacryocystitis, Ec... ORPHA:464288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Flexion contracture, Cerebellar dysplasia, Inability to walk, Calf muscle hypertrophy, Cerebellar... OMIM:613155
Microphthalmia, Lenz Type
Camptodactyly of finger, Complete duplication of thumb phalanx, Finger syndactyly, Short stature,... ORPHA:568
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Ectopia lentis, Delayed skeletal maturation, Iridodonesis, Proportiona... OMIM:608328
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Absent speech, Corneal opacity, Cerebellar atrophy, Opacific... OMIM:252650
Wagro Syndrome
Downslanted palpebral fissures, Mandibular prognathia, Echolalia, Impaired social interactions, D... OMIM:612469
Nanophthalmos 4
Microphthalmia OMIM:615972
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hearing impairment OMIM:120433
Oculocerebral Hypopigmentation Syndrome, Cross Type
Arachnodactyly, Aplasia/Hypoplasia affecting the eye, Sensorineural hearing impairment, Short sta... ORPHA:2719
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Chiari malformation, Hip dislocation, Eczema, Erythroderma, Postaxial hand polydactyly, Recurrent... OMIM:308205
Sanjad-Sakati Syndrome
Aplasia/Hypoplasia affecting the eye, Small hand, Short stature, Micrognathia, Patchy osteosclero... ORPHA:2323
Cornelia De Lange Syndrome 5
Toe syndactyly, Synophrys, Micrognathia, Hirsutism, Limited elbow extension, Telecanthus, Hearing... OMIM:300882
Lowry-Maclean Syndrome
Retrognathia, Downslanted palpebral fissures, Talon cusp, Megalocornea, Developmental glaucoma, D... ORPHA:2409
Severe Intellectual Disability And Progressive Spastic Paraplegia
Generalized joint laxity, Shyness, Short stature, Acetabular dysplasia, Abnormal repetitive manne... ORPHA:280763
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Polydactyly, Obesity OMIM:615991
Mucopolysaccharidosis Type 4
Genu valgum, Joint dislocation, Coxa valga, Short stature, Grayish enamel, Gait disturbance, Dela... ORPHA:582
Syngap1-Related Developmental And Epileptic Encephalopathy
Macrotia, Impaired social interactions, Delayed speech and language development, Recurrent hand f... ORPHA:544254
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... ORPHA:570
Xeroderma Pigmentosum, Complementation Group A
Conjunctivitis, Telangiectasia, Sensorineural hearing impairment, Entropion, Choreoathetosis, Ata... OMIM:278700
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Keratoconjunctivitis sicca, Fine hair, Microcornea, Cataract, Sclerocornea, Microp... ORPHA:1806
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Epicanthus, Micrognathia, Optic nerve hypoplasia, Metatarsus adductus, Delayed... ORPHA:300570
Galloway-Mowat Syndrome 1
Optic atrophy, Epicanthus, Micrognathia, Camptodactyly, Pes cavus, Slender finger, Talipes equino... OMIM:251300
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Retrognathia, Downslanted palpebral fissures, Lacrimal duct stenosis, Sparse eyebrow, Arachnodact... ORPHA:73246
17Q23.1Q23.2 Microdeletion Syndrome
Epicanthus, Hearing impairment, Limitation of joint mobility, Bilateral single transverse palmar ... ORPHA:261279
Weill-Marchesani Syndrome 3
Short stature, Joint stiffness, Ectopia lentis, Shallow anterior chamber, Brachydactyly, Aortic v... OMIM:614819
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Mandibular prognathia, Sensorineural hearing impairment, Joint contractu... OMIM:148820
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal nasolacrimal system morphology, High anterior hairline, Abnorma... ORPHA:3220
Fanconi Anemia, Complementation Group S
Dental malocclusion, Short stature, Epicanthus, Blepharophimosis, Delayed speech and language dev... OMIM:617883
Subaortic Stenosis-Short Stature Syndrome
Short stature, Epicanthus, Micrognathia, Synostosis of carpal bones, Arrhythmia, Microphthalmia, ... ORPHA:3191
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Acro-Renal-Ocular Syndrome
Conductive hearing impairment, Coloboma, Epicanthus, Toe syndactyly, Short distal phalanx of the ... ORPHA:959
Ring Chromosome 10 Syndrome
Abnormal antihelix morphology, Downslanted palpebral fissures, Tapered finger, Micrognathia, Cach... ORPHA:1438
Gomez-Lopez-Hernandez Syndrome
Fusion of the cerebellar hemispheres, Downslanted palpebral fissures, Alopecia, Decreased respons... OMIM:601853
Microphthalmia, Syndromic 8
Short palpebral fissure, Mandibular prognathia, Blepharophimosis, Microcornea, Split foot, Microp... OMIM:601349
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Coloboma, Micrognathia, Broad hallux, Slender finger, Bilateral talipes equinovarus, Sparse hair,... ORPHA:251028
Congenital Primary Aphakia
Retinal dysplasia, Microphthalmia, Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting... ORPHA:83461
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Decreased response to growth hormone stimulation test, Prostati... OMIM:307200
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Delayed closure of the anterior fontanelle, Decreased body weight, Short stature, Sm... ORPHA:231140
Ritscher-Schinzel Syndrome 3
Downslanted palpebral fissures, Wide anterior fontanel, Short 1st metacarpal, Short first metatar... OMIM:619135
Muenke Syndrome
Downslanted palpebral fissures, Short middle phalanx of toe, Dental malocclusion, Sensorineural h... OMIM:602849
Neurooculocardiogenitourinary Syndrome
Sensorineural hearing impairment, Coloboma, Abnormal cerebellum morphology, Epicanthus, Bilateral... OMIM:618652
Wiedemann-Steiner Syndrome
Short phalanx of finger, 2-3 toe syndactyly, Tapered finger, Short 5th finger, Epicanthus, Synoph... OMIM:605130
Ulnar Hemimelia
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... ORPHA:93320
Branchio-Oculo-Facial Syndrome
Upslanted palpebral fissure, Conductive hearing impairment, Preaxial hand polydactyly, Coloboma, ... ORPHA:1297
Hypertrichosis Cubiti
Abnormal nasolacrimal system morphology, Downslanted palpebral fissures, Abnormal eyelid morpholo... ORPHA:2220
Camptodactyly of finger, Cranium bifidum occultum, Encephalocele, Hypoplastic frontal sinuses, Ep... ORPHA:391474
Fragile X Syndrome
Congenital macroorchidism, Macrotia, Mandibular prognathia, Abnormal head movements, Recurrent ha... OMIM:300624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Coloboma, Optic atrophy, Retinal atrophy, Micrognathia, Meningoencephalocele, Optic nerve hypopla... OMIM:236670
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
4Q21 Microdeletion Syndrome
Short foot, Small hand, Cerebellar hypoplasia, Toe syndactyly, Synophrys, Delayed speech and lang... ORPHA:238750
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Delayed eruption of teeth, Congenital bilateral ptos... ORPHA:73272
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Mucopolysaccharidosis Type 3
Conductive hearing impairment, Flexion contracture, Optic atrophy, Abnormality of the middle ear ... ORPHA:581
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Ivory epiphyses of the phalanges of the hand,... OMIM:133540
Mmep Syndrome
Triphalangeal thumb, Mandibular prognathia, Split foot, Microphthalmia, Cryptorchidism ORPHA:3434
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormal spermatogenesis, Abnormality of the mid... ORPHA:90646
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Pseudohypoparathyroidism Type 1B
Conjunctivitis, Enamel hypoplasia, Decreased response to growth hormone stimulation test, Paresth... ORPHA:94089
Marden-Walker Syndrome
Arachnodactyly, Wide anterior fontanel, Joint contracture of the hand, Epicanthus, Blepharophimos... OMIM:248700
Braddock-Carey Syndrome 2
Retrognathia, Downslanted palpebral fissures, Clinodactyly, Microphthalmia, Hearing impairment, A... OMIM:619981
Biemond Syndrome Type 2
Coloboma, Hypogonadism, Short stature, Hydrocephalus, Delayed puberty, Preaxial polydactyly, Micr... ORPHA:141333
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... ORPHA:705
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft lip, Lip pit, Cleft palate ORPHA:1072
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Epicanthus, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared ilia... OMIM:609945
Ogden Syndrome
Delayed cranial suture closure, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow... ORPHA:276432
Mucopolysaccharidosis, Type Vii
Genu valgum, Flexion contracture, Sensorineural hearing impairment, Short stature, Postnatal grow... OMIM:253220
Alpha-Mannosidosis, Infantile Form
Chiari malformation, Hypoplastic inferior ilia, Cortical thickening of long bone diaphyses, Osteo... ORPHA:309282
Focal Dermal Hypoplasia
Camptodactyly of finger, Toe syndactyly, Ectopia lentis, Upper limb asymmetry, Iris coloboma, Hea... ORPHA:2092
Codas Syndrome
Sensorineural hearing impairment, Short metacarpal, Epicanthus, Crumpled ear, Delayed eruption of... ORPHA:1458
Refsum Disease
Retinopathy, Sensorineural hearing impairment, Short metacarpal, Abnormal foot morphology, Abnorm... ORPHA:773
Foxg1 Syndrome
Decreased body weight, Short stature, Impaired social interactions, Stereotypical hand wringing, ... ORPHA:561854
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Intrauterine growth retardation ORPHA:1980
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Dystrophic toenail, Finger syndactyly, Keratoconjunctivitis, Short statu... ORPHA:2907
2Q23.1 Microdeletion Syndrome
Short stature, Synophrys, Hip dysplasia, Delayed speech and language development, Clinodactyly of... ORPHA:228402
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Upslanted palpebral fissure, Brushfield spots, Hypoplasia of the thymus, J... OMIM:214110
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Rhizomelia, Short stature, Micr... ORPHA:163966
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Downslanted palpebral fissures, Polydactyly, Epicanthus, Hydrocephalus, Joint laxity, Large earlo... OMIM:602501
Multiple Sulfatase Deficiency
Sensorineural hearing impairment, Optic atrophy, Short stature, Hydrocephalus, Abnormality of ret... ORPHA:585
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Immunodeficiency 46
Conjunctivitis, Failure to thrive, Chronic oral candidiasis OMIM:616740
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Downslanted palpebral fissures, 2-3 toe syndactyly, Bilateral ptosis, Blepharophimosis, Micrognat... ORPHA:404440
Sialidosis Type 1
Retinopathy, Sensorineural hearing impairment, Short stature, Gait disturbance, Ataxia, Cataract,... ORPHA:812
Trisomy 18
Camptodactyly of finger, Chiari malformation, Epicanthus, Cachexia, Narrow pelvis bone, Iris colo... ORPHA:3380
Cockayne Syndrome Type 3
Conductive hearing impairment, Flexion contracture, Premature graying of hair, Retinal atrophy, K... ORPHA:90324
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Sensorineural hearing impairment, Cutaneous finger syndactyly, Toe syndactyly... DECIPHER:46
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Delayed closure of the anterior fontanelle, Short 5th finger, Toe syndactyly, Syno... OMIM:610759
Mosaic Trisomy 8
Abnormal antihelix morphology, Camptodactyly of finger, Macrotia, Patellar aplasia, Short stature... ORPHA:96061
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Abnormality of the orbital region, Optic nerve compression, Weight ... ORPHA:79078
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Patellar dislocation, Capitate-hamate fusion, Short foot, Coronal cranios... OMIM:614078
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Enamel hypoplasia, F... OMIM:270200
Hartsfield Syndrome
Downslanted palpebral fissures, Encephalocele, Lobar holoprosencephaly, Ptosis, Aplasia/Hypoplasi... ORPHA:2117
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Short stature, Cerebellar hypoplasia, Retinal dystrophy, Abnormality of retinal pig... OMIM:251270
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Flexion contracture, Hallux valgus, Premature graying of hair, Elbow fle... OMIM:256040
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Otopalatodigital Syndrome Type 1
Downslanted palpebral fissures, Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Inc... ORPHA:90650
Limb-Mammary Syndrome
Sparse eyebrow, Alopecia, Aplasia of the ovary, Absent lacrimal punctum, Toe syndactyly, Absent n... ORPHA:69085
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Retrognathia, Downslanted palpebral fissures, Sparse eyebrow, 2-3 toe syndactyly, High anterior h... OMIM:620098
Mosaic Trisomy 1
Camptodactyly of finger, 2-3 finger syndactyly, Congenital bilateral ptosis, Elbow flexion contra... ORPHA:1692
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Basel-Vanagaite-Smirin-Yosef Syndrome
2-3 toe syndactyly, Inability to walk, Epicanthus, Broad distal phalanx of the toes, Pes cavus, O... ORPHA:464738
Mucopolysaccharidosis, Type Vi
Hypoplastic acetabulae, Flexion contracture, Delayed eruption of teeth, Sinus tachycardia, Flared... OMIM:253200
Ramos-Arroyo Syndrome
High anterior hairline, Sparse scalp hair, Choriocapillaris atrophy, Decreased body weight, Dacry... ORPHA:1051
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Trichorrhexis nodosa, Natal tooth, Brittle hair, Short stature, Bilateral cry... OMIM:616395
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Conjunctivitis, Mitten deformity, Enamel hypoplasia, Flexion contracture, Alopecia, Corneal scarr... OMIM:226600
Juvenile Temporal Arteritis
Conjunctivitis, Vasculitis, Cerebral ischemia, Allergic rhinitis ORPHA:26137
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... ORPHA:137902
Skin Creases, Congenital Symmetric Circumferential, 1
Short palpebral fissure, Cerebellar vermis atrophy, Epicanthus, Blepharophimosis, Micrognathia, D... OMIM:156610
Otopalatodigital Syndrome, Type I
Delayed closure of the anterior fontanelle, Conductive hearing impairment, Coxa valga, Abnormalit... OMIM:311300
Bardet-Biedl Syndrome 4
Polydactyly, Rod-cone dystrophy, Hypogonadism, Retinal degeneration, Brachydactyly, Syndactyly, C... OMIM:615982
Adducted Thumbs Syndrome
Cleft palate, Velopharyngeal insufficiency, High palate, High, narrow palate OMIM:201550
Gm1-Gangliosidosis, Type Iii
Hypoplastic acetabulae, Short stature, Delayed speech and language development, Flared iliac wing... OMIM:230650
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Mesoaxial foot polydactyly, Bilateral sensorineural hearing impairment, 1-2 toe syndactyly, 4-5 t... ORPHA:488232
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Abnormal retinal morphology, Hypoplasia of the thymus, Third d... ORPHA:40366
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Abnormal eyelid morphology, Short stature, Coronal craniosynostosi... ORPHA:2095
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Conductive hearing impairment, Epicanthus, Hypoplastic ischia, Cryptorchidism, Low-s... OMIM:616910
Oculodentodigital Dysplasia
Conductive hearing impairment, Epicanthus, Taurodontia, Hip dislocation, Sparse hair, Slow-growin... OMIM:164200
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Skin rash OMIM:603552
Joubert Syndrome 37
Short stature, Decreased testicular size, Prominent metopic ridge, Joint hypermobility, Absent sp... OMIM:619185
Hallermann-Streiff Syndrome
Micrognathia, Choreoathetosis, Iris coloboma, Sparse eyelashes, Optic disc coloboma, Sparse hair,... OMIM:234100
Hurler Syndrome
Flexion contracture, Coxa valga, Flared iliac wing, Hypoplasia of the femoral head, Hirsutism, He... OMIM:607014
Mend Syndrome
2-3 toe syndactyly, Abnormal auditory evoked potentials, Micrognathia, Overlapping toe, Broad hal... ORPHA:401973
Anterior Segment Dysgenesis 2
Coloboma, Posterior synechiae of the anterior chamber, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Coffin-Siris Syndrome 11
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... OMIM:618779
Microphthalmia, Isolated, With Coloboma 9
Macrotia, Ocular anterior segment dysgenesis, Delayed speech and language development, Narrow pal... OMIM:615145
Lacrimal Duct Defect
Conjunctivitis, Dacryocystitis, Dacryocystocele, Sinusitis, Lacrimal duct atresia OMIM:149700
Menkes Disease
Chorea, Chondrocalcinosis, Osteomyelitis, Recurrent fractures, Micrognathia, Intrauterine growth ... ORPHA:565
Isolated Osteopoikilosis
Tarsal sclerosis, Dacryocystitis, Abnormal long bone morphology, Abnormal bone ossification, Disc... ORPHA:166119
Bresek Syndrome
Alopecia, Decreased testicular size, Hydrocephalus, Intrauterine growth retardation, Optic nerve ... ORPHA:85284
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Conjunctivitis, Paresthesia, Increased bone mineral density, Ventr... ORPHA:36913
Micro Syndrome
Macrotia, Abnormal cerebellum morphology, Optic atrophy, Short stature, Micrognathia, Cerebellar ... ORPHA:2510
Bardet-Biedl Syndrome 1
Broad foot, Attenuation of retinal blood vessels, Radial deviation of finger, Hirsutism, Postaxia... OMIM:209900
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Mandibular prognathia, Tapered finger, Postaxial polydactyly, Short stature, Clinoda... OMIM:619721
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polydactyly, Conductive hearing impairment, Patellar dislocation, Coloboma, Chiari malformation, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polydactyly, Conductive hearing impairment, Patellar dislocation, Coloboma, Chiari malformation, ... ORPHA:353277
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Nasolacrimal Duct Cyst
Dacryocystitis, Red eye, Narrow palpebral fissure, Chronic irritative conjunctivitis, Dacryocysto... ORPHA:141083
Tenorio Syndrome
Delayed cranial suture closure, Recurrent aphthous stomatitis, Mandibular prognathia, Delayed spe... OMIM:616260
Usher Syndrome Type 3
Sensorineural hearing impairment, Iris hypopigmentation, Ataxia, Astigmatism, Cataract, Vestibula... ORPHA:231183
Optic Atrophy-Intellectual Disability Syndrome
Tapered finger, Optic atrophy, Epicanthus, Short stature, Optic disc hypoplasia, Repetitive compu... ORPHA:401777
Symphalangism, Distal
Distal foot symphalangism, Absent dorsal skin creases over affected joints, Distal symphalangism ... OMIM:185700
Mend Syndrome
2-3 toe syndactyly, Polydactyly, Micrognathia, Overlapping toe, Anterior polar cataract, Broad ha... OMIM:300960
Humeroradial Synostosis With Craniofacial Anomalies
Small earlobe, Humeroradial synostosis, Microtia, Carpal synostosis, Tarsal synostosis OMIM:236410
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Inability to walk, Synophrys, Long eyelashes, Abnormal repetitive mannerisms, Large... ORPHA:411986
Episodic Ataxia Type 4
Abnormal head movements, Vertigo ORPHA:79136
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand or of fingers of the hand, Epicanthus, Micrognathia, Epiphyseal stipp... OMIM:214100
Granulomatosis With Polyangiitis
Conjunctivitis, Retinal hemorrhage, Weight loss, Uveitis, Diffuse alveolar hemorrhage, Sinusitis,... OMIM:608710
3Mc Syndrome 3
Short stature, Blepharophimosis, Auricular pit, Clinodactyly, Radioulnar synostosis, Ptosis, Epic... OMIM:248340
Dubowitz Syndrome
Epicanthus, Delayed eruption of teeth, Micrognathia, Eczema, Iris coloboma, Delayed skeletal matu... OMIM:223370
Cataract-Microcornea Syndrome
Microcornea, Iris coloboma, Cataract, Corneal opacity, Corneal dystrophy ORPHA:1377
Foveal Hypoplasia 2
Posterior embryotoxon, Foveal hyperpigmentation, Optic nerve misrouting, Axenfeld anomaly, Astigm... OMIM:609218
Dermoids Of Cornea
Corneal opacity OMIM:304730
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Chorioretinitis, Weight loss, Bronchiectasis, Iridocyclitis, Art... OMIM:181000
Biotinidase Deficiency
Conjunctivitis, Alopecia, Sensorineural hearing impairment, Optic atrophy, Skin rash, Ataxia, Dif... OMIM:253260
Chromosome 2P16.1-P15 Deletion Syndrome
Epicanthus, Camptodactyly, Optic nerve hypoplasia, Metatarsus adductus, Telecanthus, Hearing impa... OMIM:612513
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Short 5th finger, Coloboma, Micrognathia, Abnormal optic disc morphology, Hip... ORPHA:508498
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Decreased response to growth hormone stimulation test, Cerebellar dysplasia, Short stat... ORPHA:457240
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short palpebral fissure, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phal... OMIM:608670
Warburg Micro Syndrome 2
Macrotia, Flexion contracture, Clinodactyly of the 4th toe, Optic atrophy, Clinodactyly of the 5t... OMIM:614225
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hearing abnormality, Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Ocular albin... ORPHA:1352
Ohdo Syndrome, X-Linked
Decreased body weight, Epicanthus, Micrognathia, Overlapping toe, Hearing impairment, Posteriorly... OMIM:300895
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Knee flexion contracture, Sparse eyebrow, Recurrent bacterial skin infections, Sensorineural hear... OMIM:148210
Microphthalmia With Linear Skin Defects Syndrome
Abnormal nasolacrimal system morphology, Mandibular aplasia, Abnormal testis morphology, Microgna... ORPHA:2556
Central retinal artery occlusion, Retinal hemorrhage, Conjunctivitis, Skin rash, Anisocoria, Vert... ORPHA:863
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Enlarged vestibular aqueduct, Fine hair, Congenital ... ORPHA:79414
Cenani-Lenz Syndrome
Toe syndactyly, Hip dislocation, Elbow dislocation, Hearing impairment, Abnormal dental enamel mo... ORPHA:3258
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Carpal synostosis OMIM:156232
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar vermis atrophy, Optic atrophy, Epicanthus, Micrognathia, Epiphyseal stippling, Camptod... OMIM:614866
Cockayne Syndrome A
Optic atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Ivory epiphyses of the phala... OMIM:216400
Pde4D Haploinsufficiency Syndrome
Short phalanx of finger, Broad foot, Hypotension, Micrognathia, Broad hallux, Hearing impairment,... ORPHA:439822
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Lacrimal duct stenosis, Optic atrophy, Epicanthus, Short stature, Microretrognathia, Brachydactyl... ORPHA:457193