Gene Summary

Name:
EYA transcriptional coactivator and phosphatase 1
Synonyms:
bor

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Eya1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased prepulse inhibition Eya1tm1b(EUCOMM)Hmgu HET Early adult 1.91×10-32

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Viewing: all phenotypes

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.

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of right eye

16 Images

Human diseases caused by Eya1 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.

The table below shows human diseases predicted to be associated to Eya1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Pendred Syndrome
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... ORPHA:705
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Cleft palate, Overfolded helix, Underdeveloped tragus, Short nose,... ORPHA:79113
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Femoral-Facial Syndrome
Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Long penis, Short nose, Ve... ORPHA:1988
Monosomy 9P
Abnormal antihelix morphology, High palate, Cleft palate, Abnormality of the dentition, Depressed... ORPHA:261112
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Convex nasal ridge, Abnormal reticulocy... ORPHA:2522
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Narr... ORPHA:3236
Ear-Patella-Short Stature Syndrome
Cleft palate, Craniosynostosis, Anotia, Breast aplasia, Abnormal epiphysis morphology, Hypoplasia... ORPHA:2554
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Acrofacial Dysostosis, Cincinnati Type
Flared lower limb metaphysis, Ablepharon, Cleft palate, Microtia, Retrognathia, Micrognathia, Fem... OMIM:616462
Acrootoocular Syndrome
Pectus excavatum, Cutaneous syndactyly, Delayed eruption of teeth, Pseudopapilledema, Downslanted... ORPHA:2980
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Tracheoesophageal fistula, Branchial fistula, Abnormality ... ORPHA:861
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Pectus excavatum, Delayed eruption of teeth, Pseudopapilledema, Downslanted palpebra... OMIM:264475
Van Maldergem Syndrome 2
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the corpus callosum, Hypoplasia o... OMIM:615546
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Conductive hearing impairment, Narrow mouth, 2-3 toe syndactyly, Cleft palate, M... OMIM:239800
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Cryptorchidism, Cleft palate, Microtia, Micrognathia, Abnormalit... ORPHA:3429
Nager Syndrome
Wide mouth, Cleft palate, Hypoplasia of the radius, Downslanted palpebral fissures, Sparse lower ... ORPHA:245
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Van Maldergem Syndrome 1
High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the corpus callosum, Hypoplasia o... OMIM:601390
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Bulbous nose, Absent eyebrow, Cleft palate, Microt... ORPHA:2316
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Absent eyebrow, Cleft palate, Microtia, Retrognath... OMIM:147770
Braddock-Carey Syndrome 2
Wide mouth, Bulbous nose, Cleft palate, Retrognathia, Microcephaly, Atresia of the external audit... OMIM:619981
Branchiootorenal Syndrome 1
High palate, Cleft palate, Branchial fistula, Congenital hip dislocation, Microdontia, Renal stea... OMIM:113650
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Bor Syndrome
Abnormality of the middle ear ossicles, Abnormal lacrimal duct morphology, Renal hypoplasia/aplas... ORPHA:107
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, High palate, Bulbous nose, Flexion contracture, Everted lower li... OMIM:616549
Monosomy 22
High palate, Short neck, Open mouth, Joint swelling, Clinodactyly of the 5th finger, Retrognathia... ORPHA:96123
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Branchiooculofacial Syndrome
Malrotation of colon, Cleft palate, Overfolded helix, Abnormality of the dentition, Broad nasal t... OMIM:113620
Chromosome 18Q Deletion Syndrome
Cleft palate, Depressed nasal bridge, Short philtrum, Short neck, Optic atrophy, Downslanted palp... OMIM:601808
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Meier-Gorlin Syndrome 1
High palate, Cleft palate, Absent glenoid fossa, Hemivertebrae, Microdontia, Pectus carinatum, Ge... OMIM:224690
Lateral Meningocele Syndrome
High palate, Pectus excavatum, Short neck, Downslanted palpebral fissures, Umbilical hernia, High... ORPHA:2789
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Abnormal antihelix morphology, Bulbous nose, Long nose, Thyroid hypoplasia, Thyroid agenesis, Neo... ORPHA:3047
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis, Hearing impairment OMIM:235740
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Conductive hearing impairment, Dislocated radial head, Narrow mouth, Flexion contrac... OMIM:602471
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Short nose, Enamel agenesis... OMIM:614701
Otofaciocervical Syndrome 1
Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Hypoplasia of the cochlea OMIM:166780
Cardiospondylocarpofacial Syndrome
Wide mouth, Bulbous nose, Cone-shaped epiphysis, Horseshoe kidney, Delayed skeletal maturation, H... OMIM:157800
Congenital Heart Defects, Multiple Types, 7
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Aortopulmonary collateral arte... OMIM:618780
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Nephrolithiasis, Abnormality of the kidney, Prominent metopic ridge, Short philtrum, Congenital h... ORPHA:521445
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ankyloblepharon, Cleft palate, Hypoplasia of the maxilla, Conical tooth, Selective tooth agenesis... OMIM:106260
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Conductive hearing impairment, Dental malocclusion, Joint contracture of the hand, Malar flatteni... OMIM:608257
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Sensorineural hearing impairment, Aplasia of the inner ear, Supernumerary tooth, Hypodontia, Micr... ORPHA:90024
Mandibulofacial Dysostosis, Guion-Almeida Type
Slender finger, Cleft palate, Overfolded helix, Downslanted palpebral fissures, Short nose, Micro... OMIM:610536
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Cleft palate, Microtia, Abnormality of the ureter, Brachydactyly, Low-s... ORPHA:1770
Acrofacial Dysostosis 1, Nager Type
Wide mouth, Absent thumb, Cleft palate, Hypoplasia of the radius, Polymicrogyria, Radioulnar syno... OMIM:154400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Depressed nasal bridge, Congenital hip dislocation, Hypoplastic pelvis, Thyroid hypoplasia, Umbil... OMIM:308050
Mosaic Trisomy 14
High palate, Ectopic anus, Wide mouth, Narrow chest, Hypoplasia of penis, Cleft palate, Microtia,... ORPHA:1703
Pallister-Hall Syndrome
Cleft palate, Decreased circulating cortisol level, Hemivertebrae, Depressed nasal bridge, Y-shap... OMIM:146510
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... OMIM:610706
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Malar flattening, Reduced bone mine... ORPHA:1488
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality OMIM:300425
Autism
Motor stereotypy, EEG abnormality OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality OMIM:608636
Otofaciocervical Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, High palate, Renal ... ORPHA:2792
Warsaw Breakage Syndrome
Hearing impairment, Cupped ear, Hypoplasia of the cochlea, Optic disc coloboma OMIM:613398
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Cleft palate, Short mandibular rami, Microtia, Oral cleft, Atresia... OMIM:141400
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Isotretinoin-Like Syndrome
Thin anteverted nares, Cleft palate, Microtia, Upslanted palpebral fissure, Micrognathia, Microce... ORPHA:2306
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cleft palate, Thyroid hypoplasia, Umbilical hernia, Encephalocele, Anal atresia, Hypoplasia of pe... ORPHA:2166
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Down-slopin... OMIM:265000
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Short distal phalanx of... OMIM:609166
Pallister-Hall Syndrome
Macrocephaly, Central adrenal insufficiency, Cleft palate, Depressed nasal ridge, Hemivertebrae, ... ORPHA:672
Mycophenolate Mofetil Embryopathy
Microtia, Tracheomalacia, Micrognathia, Tracheoesophageal fistula, Anotia, Bifid nose, Agenesis o... ORPHA:268249
Robinow Syndrome, Autosomal Recessive 1
Dental crowding, Wide mouth, Macrocephaly, Pectus excavatum, Triangular mouth, Hypoplastic sacrum... OMIM:268310
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Macrocephaly, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short... OMIM:213980
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... OMIM:601382
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Acrocraniofacial Dysostosis
Abnormal pinna morphology, Pectus excavatum, Cleft palate, Craniosynostosis, Short 1st metacarpal... ORPHA:949
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w... OMIM:305620
Lambotte Syndrome
Narrow mouth, Convex nasal ridge, Retrognathia, Microcephaly, Atresia of the external auditory ca... OMIM:245552
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Depressed nasal bridge, Macrodontia, Optic atrophy, Hypoplasia of the ... ORPHA:1106
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Renal hypoplasia/aplasia, Sprengel a... ORPHA:2345
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Microtia, Upslanted p... OMIM:248910
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Fanconi Anemia, Complementation Group L
Absent thumb, Hypoplastic sacrum, Cleft palate, Tracheoesophageal fistula, Depressed nasal tip, A... OMIM:614083
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Abnormality of the tongue, Pectus excavatum, Cleft palate, Symphalangism affecting t... ORPHA:2990
Neurofaciodigitorenal Syndrome
Low-set ears, Hypoplasia of the premaxilla, Pectus excavatum, Downslanted palpebral fissures, Epi... ORPHA:2673
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Abnormal nasolacri... ORPHA:52429
Autosomal Recessive Robinow Syndrome
Wide mouth, Macrocephaly, Pectus excavatum, Abnormality of the dentition, Short philtrum, Short n... ORPHA:1507
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Microcephaly, Crossed fused renal ectopia, Bifid nose, A... ORPHA:2213
Vacterl With Hydrocephalus
Anal atresia, Renal hypoplasia/aplasia, Retrognathia, Hemivertebrae, Micrognathia, Anotia, Hypopl... ORPHA:3412
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Osteopenia, Short neck, Downslanted palpebral fissures, Vertebral segm... OMIM:611209
Sifrim-Hitz-Weiss Syndrome
Macrocephaly, Tapered finger, Anteriorly placed anus, Short palpebral fissure, Hypogonadotropic h... OMIM:617159
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Pectus excavatum, Attached earlobe, Depressed nasal bridge, Pectus carinatum, Short ... ORPHA:1327
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Autosomal Recessive Spondylocostal Dysostosis
Macrocephaly, Cleft palate, Depressed nasal bridge, Abnormality of the ureter, Short neck, Umbili... ORPHA:2311
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Velopharyngeal insufficiency, Malar flattening, Everted upper l... OMIM:182290
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Intellectual Developmental Disorder, Autosomal Dominant 52
High palate, Macrocephaly, Depressed nasal bridge, Short philtrum, Pectus carinatum, Open mouth, ... OMIM:617796
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, Short neck, 11 pairs of rib... OMIM:108720
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
Schinzel-Giedion Syndrome
High palate, Wide mouth, Abnormal clavicle morphology, Abnormal helix morphology, Infantile senso... ORPHA:798
Fraser Syndrome 1
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Cleft ala nasi, Abnormality of t... OMIM:219000
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Cleft palate, Horseshoe kidney, Patellar dislocation, Clinodactyl... ORPHA:3320
Kbg Syndrome
Cleft palate, Cutaneous syndactyly, Short neck, Bilateral conductive hearing impairment, Finger c... ORPHA:2332
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Osteopenia, Short neck, Hammertoe, Umbilical hernia, Cervical C2/C3 vertebral fusion... OMIM:618000
Crouzon Syndrome
Conductive hearing impairment, Coronal craniosynostosis, Shallow orbits, Atresia of the external ... OMIM:123500
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Klippel-Feil Syndrome 2, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Cervi... OMIM:214300
Aarskog-Scott Syndrome
Pectus excavatum, Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of tee... ORPHA:915
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Carcinoid tumor, Abnormality of the auditory canal, Neuroendocr... ORPHA:100084
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Macrocephaly, Cleft palate, Depressed nasal bridg... ORPHA:485
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Depressed nasal bridge, Pectus carinatum, Radioulnar synostosis, Short nose, Um... ORPHA:171839
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
Craniodiaphyseal Dysplasia
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy ORPHA:1513
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment, Vesicoureteral reflux OMIM:605192
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Optic disc coloboma, Renal dysplasia, Optic nerve dysplasia, Renal ... ORPHA:1475
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Apert Syndrome
Ovarian neoplasm, Cleft palate, Depressed nasal bridge, Delayed eruption of teeth, Optic atrophy,... ORPHA:87
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Cleft palate, Bilateral conductive hearing impairment, Abnormality of the ankl... ORPHA:2010
Craniofacial Microsomia
Wide mouth, Cleft palate, Hemivertebrae, Maxillozygomatic hypoplasia, Anotia, Underdeveloped trag... OMIM:164210
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Duodenal atresia, Butterfly vertebrae, Pectus excavatum, Retrognathia, Unilater... OMIM:619227
Koolen-De Vries Syndrome
Bulbous nose, Pectus excavatum, Cleft palate, Overfolded helix, Abnormality of the dentition, Mic... ORPHA:96169
Au-Kline Syndrome
High palate, Overlapping toe, Pectus excavatum, Cleft palate, Craniosynostosis, Microtia, Postaxi... OMIM:616580
Cerebrocostomandibular Syndrome
Myelomeningocele, Conductive hearing impairment, Kyphosis, Clinodactyly of the 5th finger, Poster... ORPHA:1393
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment, Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Ectopic anus, Microretrognathia, Cleft palate, Microtia, Arachnod... ORPHA:2994
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Radial-Renal Syndrome
Unilateral renal agenesis, External ear malformation, Ectopic kidney OMIM:179280
14Q22Q23 Microdeletion Syndrome
Downslanted palpebral fissures, Delayed skeletal maturation, Clinodactyly of the 5th finger, Micr... ORPHA:264200
Lamb-Shaffer Syndrome
Micrognathia, Microcephaly, Broad nasal tip, Scoliosis, Optic atrophy, Fused cervical vertebrae, ... ORPHA:530983
Diamond-Blackfan Anemia 10
Low-set ears, Conductive hearing impairment, Steroid-responsive anemia, Malar flattening, Microti... OMIM:613309
Temple Syndrome
High palate, Recurrent otitis media, Relative macrocephaly, Flexion contracture, Cleft palate, Ma... OMIM:616222
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Frontometaphyseal Dysplasia
Limitation of movement at ankles, Craniosynostosis, Cleft palate, Ureteral obstruction, Limitatio... ORPHA:1826
Zttk Syndrome
High palate, Macrocephaly, Sparse eyebrow, Craniosynostosis, Hemivertebrae, Abnormality of the de... OMIM:617140
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Narrow mouth, Macrocephaly, Cleft palate, Microtia, Micrognathia, ... ORPHA:398156
6Q16 Microdeletion Syndrome
Bulbous nose, Macrocephaly, Thick eyebrow, Microtia, Retrognathia, Micrognathia, Depressed nasal ... ORPHA:171829
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Absent thumb, Cleft palate, Hypoplasia of the radius, Stenosis o... OMIM:614900
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Short phi... OMIM:186500
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment OMIM:184460
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Malar flattening, Prominence of the premaxilla, Depressed nasal ridge, Abnormality ... ORPHA:2412
Wolf-Hirschhorn Syndrome
Cleft palate, Short philtrum, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Downslanted pa... ORPHA:280
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Spastic diplegia, Motor stereotypy, Hypsarrhythmia OMIM:617830
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Anotia, Cleft palate, Microtia OMIM:243440
Doors Syndrome
High palate, Bulbous nose, Macrodontia of permanent maxillary central incisor, Cleft palate, Hemi... ORPHA:79500
Kbg Syndrome
Cutaneous syndactyly, Short neck, Macrodontia, Downslanted palpebral fissures, Tented upper lip v... OMIM:148050
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231169
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
High palate, Wide mouth, Macrocephaly, Slender finger, Depressed nasal bridge, Delayed eruption o... OMIM:619503
Aicardi Syndrome
Hiatus hernia, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the cerebellum, Optic disc col... ORPHA:50
20P12.3 Microdeletion Syndrome
Narrow mouth, Macrocephaly, Malar flattening, Microtia, Depressed nasal bridge, Broad hallux phal... ORPHA:261295
Apert Syndrome
Cleft palate, Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Shallow orbits, Del... OMIM:101200
16P13.11 Microdeletion Syndrome
Sensorineural hearing impairment, Wide mouth, Cleft upper lip, Pectus excavatum, Cryptorchidism, ... ORPHA:261236
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Short neck, Hypoplasia of the corpus callosum, Hypermobility of ... ORPHA:508498
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Wilson-Turner Syndrome
Thick eyebrow, Microtia, Small hand, Hypogonadotropic hypogonadism, Micrognathia, Broad nasal tip... ORPHA:3459
3Mc Syndrome 2
Cleft palate, Craniosynostosis, Depressed nasal tip, Radioulnar synostosis, Downslanted palpebral... OMIM:265050
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries OMIM:231060
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Abnormal pinna morphology, Depressed nasal ridge, Craniosynostosis... ORPHA:178303
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Congenital hip dislocation, Short 5th finger, Atresia of the exter... OMIM:133705
Catifa Syndrome
Tooth malposition, Cleft palate, Microtia, Long philtrum, Delayed eruption of teeth, Mild microce... OMIM:618761
Marshall-Smith Syndrome
High palate, Pectus excavatum, Short sternum, Accelerated skeletal maturation, Slender finger, Cr... OMIM:602535
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Distal Monosomy 17Q
Narrow mouth, Microtia, Abnormal hip bone morphology, Small hand, Prominent metopic ridge, Aplasi... ORPHA:1597
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormality of the dentition, Chro... OMIM:221320
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Short neck, Tapered finger, Downslanted palpebral fissures, Long eyelashes, Limb joi... ORPHA:505237
Frontonasal Dysplasia 1
Median cleft palate, Broad nasal tip, Cranium bifidum occultum, Hypoplasia of the maxilla, Widely... OMIM:136760
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Bulbous nose, Macrocephaly, Sparse eyebrow, Tapered finger, Downslanted pa... ORPHA:544488
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Facial diplegia, Cryptorchidism, Cerebral atrophy, Retrognathia, Micrognat... OMIM:611890
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Cleft palate, Micrognathia, Prominent nose, Macrotia, Supernumerar... OMIM:221950
Skin Creases, Congenital Symmetric Circumferential, 2
Pectus excavatum, Cleft palate, Depressed nasal bridge, Short neck, Microdontia, Tapered finger, ... OMIM:616734
Meier-Gorlin Syndrome 8
Narrow mouth, Microtia, Micrognathia, Microcephaly, Renal hypoplasia, Thick vermilion border, Low... OMIM:617564
Congenitally Uncorrected Transposition Of The Great Arteries
Anomalous pulmonary venous return, Right ventricular hypertrophy, Dextrotransposition of the grea... ORPHA:860
Lateral Meningocele Syndrome
High palate, Pectus excavatum, Short neck, Biconcave vertebral bodies, Downslanted palpebral fiss... OMIM:130720
Elsahy-Waters Syndrome
High palate, Bulbous nose, Pectus excavatum, Impacted tooth, Delayed eruption of teeth, Downslant... OMIM:211380
Klippel-Feil Syndrome 1, Autosomal Dominant
Sensorineural hearing impairment, Conductive hearing impairment, Cervical C2/C3 vertebral fusion,... OMIM:118100
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Decreased response to growth hormone stimulation test, Absent thum... OMIM:609053
Cornelia De Lange Syndrome
High palate, Pectus excavatum, Cleft palate, Short 1st metacarpal, Depressed nasal bridge, Short ... ORPHA:199
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Zechi-Ceide Syndrome
Abnormal helix morphology, Cleft palate, Short philtrum, Sandal gap, Mandibular prognathia, Short... ORPHA:217017
Holoprosencephaly 9
Cleft palate, Depressed nasal bridge, Short philtrum, Underdeveloped tragus, Hypoplasia of the ma... OMIM:610829
Renpenning Syndrome
Pectus excavatum, Cleft palate, Short philtrum, Macrodontia, Mandibular prognathia, Sprengel anom... ORPHA:3242
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Irregular acetabular roof, Genu valgum, Abnormal metaphysis morphology, Irregular ... ORPHA:93316
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia, Neonatal death, Abnormal pinna morphology OMIM:228940
Fraser Syndrome
High palate, Depressed nasal bridge, Cleft ala nasi, Umbilical hernia, Encephalocele, Subglottic ... ORPHA:2052
Cerebrofaciothoracic Dysplasia
Wide mouth, Macrocephaly, Cleft palate, Hemivertebrae, Short neck, Hypoplasia of the corpus callo... ORPHA:1394
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Microtia, Atresia of the external ... ORPHA:1508
Robinow Syndrome
Macrocephaly, Triangular mouth, Broad alveolar ridges, Hemivertebrae, Broad nasal tip, Depressed ... ORPHA:97360
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis, Hypogonadotropic hypogonadism, Primary amenorrhea, Hearing... OMIM:244200
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Frontometaphyseal Dysplasia 2
High palate, Abnormal pinna morphology, Pectus excavatum, Cleft palate, Broad nasal tip, Short ph... OMIM:617137
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Oocyte Maturation Defect 10
Female infertility, Miscarriage OMIM:619176
Diastrophic Dysplasia
Macrocephaly, Abnormal clavicle morphology, Cleft palate, Overfolded helix, Depressed nasal bridg... ORPHA:628
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Sprengel anomaly, Neutropenia, Cleft palate, Osteopenia, Scoli... OMIM:612562
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bulbous nose, Depressed nasal bridge, Short philtrum, Short neck, Downslanted palpebral fissures,... OMIM:618622
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... ORPHA:98807
Mullegama-Klein-Martinez Syndrome
Sensorineural hearing impairment, Bulbous nose, Clinodactyly of the 5th finger, Cleft palate, Mic... OMIM:301022
19P13.3 Microduplication Syndrome
Cleft palate, Short philtrum, Downslanted palpebral fissures, Hip subluxation, Precocious puberty... ORPHA:447980
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Abnormal autonomic nervous system physiology, Intestinal malrotation, Atresia of the external aud... OMIM:243180
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Protruding ear, Widely-spaced incisors, Bulbous nose, Thick eyebrow, Upslanted palpebral fissure,... OMIM:618737
Lujan-Fryns Syndrome
High palate, Protruding ear, Macrocephaly, Pectus excavatum, Arachnodactyly, Micrognathia, Campto... ORPHA:776
Ohdo Syndrome
Sparse eyebrow, Depressed nasal bridge, Short nose, Proteinuria, Hypoplasia of teeth, Clinodactyl... OMIM:249620
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, D... OMIM:201000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft palate, Hypoplasia of the corpus callosum, Polymicrogyria, Optic atrophy, Agyria, Pachygyri... OMIM:236670
Pfeiffer Syndrome Type 2
High palate, Cleft palate, Depressed nasal bridge, Short nose, Anal atresia, Tracheomalacia, Broa... ORPHA:93259
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Delayed proximal femoral epiphyseal ossification, De... ORPHA:226307
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ribs, Optic disc coloboma... OMIM:607872
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Low-set ears, Chronic kidney disease, Renal hypoplasia OMIM:617661
Tetraploidy
Renal hypoplasia/aplasia, Convex nasal ridge, Cleft palate, Hypoplasia of the ear cartilage, Micr... ORPHA:3305
Holoprosencephaly 2
Malar flattening, Microcephaly, Scoliosis, Bifid uvula, Proboscis, Cerebellar hypoplasia, Bilater... OMIM:157170
Barber-Say Syndrome
Wide mouth, Abnormal pinna morphology, Bulbous nose, Ablepharon, Ectropion, Aplasia/Hypoplasia of... ORPHA:1231
Femoral-Facial Syndrome
Abnormal pinna morphology, Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synos... OMIM:134780
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Convex nasal ridge, Malar flattening, Craniosynostosis, Microtia, ... ORPHA:2145
Chops Syndrome
Cervical C2/C3 vertebral fusion, Thick eyebrow, Cryptorchidism, High, narrow palate, Tracheomalac... OMIM:616368
Urban-Rogers-Meyer Syndrome
Overfolded helix, Abnormality of the ureter, Short neck, Abnormal epiphysis morphology, Hypogonad... ORPHA:3409
Ravine Syndrome
Ataxia, Spasticity, Abnormal auditory evoked potentials ORPHA:99852
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, High ... OMIM:618500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
High palate, Downslanted palpebral fissures, Short nose, Long eyelashes, Hip subluxation, Horsesh... ORPHA:444077
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Macrocephaly, Platyspondyly, Shortening of all metacarpals, Wormian bones... OMIM:601356
Baller-Gerold Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Polymicrogyria, Hypoplasia of the ulna, Opti... OMIM:218600
Cardiocranial Syndrome, Pfeiffer Type
Temporomandibular joint ankylosis, Cryptorchidism, Slender finger, Micropenis, High, narrow palat... ORPHA:2872
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Wide mouth, Pectus excavatum, Limited pronation/supination of forearm, Depressed nasal bridge, Sh... ORPHA:163654
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Wide mouth, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Nabais Sa-De Vries Syndrome, Type 2
High palate, Protruding ear, Clinodactyly of the 5th finger, Bulbous nose, Sparse eyebrow, Microt... OMIM:618829
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
3-Hydroxyisobutyric Aciduria
Cerebral cortical atrophy, Microtia, Cerebral calcification, Hypogonadotropic hypogonadism, Micro... ORPHA:939
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... OMIM:601455
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Azoospe... OMIM:601076
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Narrow chest, Limited pronation/s... ORPHA:1724
Trisomy 8P
Multiple joint contractures, Cleft palate, Short fourth metatarsal, Clinodactyly of the 4th toe, ... ORPHA:264450
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Short neck, Pectus carinatum, Abnormal epiphysis morphology, Mandi... ORPHA:3082
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Round ear, Deviation of finger, Epicanthus, Anteverted nares, Short no... ORPHA:1450
Craniosynostosis And Dental Anomalies
High palate, Depressed nasal bridge, Delayed eruption of teeth, Broad hallux, Downslanted palpebr... OMIM:614188
Ablepharon Macrostomia Syndrome
Wide mouth, Ablepharon, Cryptophthalmos, Hypoplasia of penis, Absent eyebrow, Microtia, Thin verm... ORPHA:920
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, D... ORPHA:794
Aredyld Syndrome
Craniofacial hyperostosis, Type II diabetes mellitus, Narrow mouth, Splenomegaly, Upslanted palpe... ORPHA:1133
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Macrocephaly, Cleft palate, Abnormality of the ankles, Microdontia, Hypoplasia of th... ORPHA:1307
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Abnormal pinna morphology, Macrocephaly, Microretrognathia, Microtia, Short philtrum, Downslanted... OMIM:613603
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Facial diplegia, Cortical sclerosis, Macrocephaly, Diaphyseal sclerosis, Elevated... OMIM:122860
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Protruding ear, Macrocephaly, Camptodactyly of finger, Microcephaly, Tapered finger,... ORPHA:85279
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Trisomy 20P
Abnormal antihelix morphology, Abnormality of the dentition, Abnormality of the ureter, Short nec... ORPHA:261318
Craniometaphyseal Dysplasia
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Cleft palate, Severe B lymphocytopenia, B lymphocytopenia, Pancreatic hypoplasia,... ORPHA:83617
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Cleft palate, Craniofacial asymmetry, Malrotation of small bowel, Shor... OMIM:194190
Cog1-Cdg
High palate, Osteopenia, Short neck, Downslanted palpebral fissures, Short long bone, Vertebral s... ORPHA:263508
Chromosome 22Q11.2 Duplication Syndrome
High palate, Abnormal pinna morphology, Velopharyngeal insufficiency, Depressed nasal ridge, Micr... OMIM:608363
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Hor... OMIM:274000
Thalidomide Embryopathy
Aplasia/Hypoplasia of the ulna, Aplasia/hypoplasia of the humerus, Upper limb phocomelia, Radial ... ORPHA:3312
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Delaye... OMIM:210720
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Rib fusion, Macrocephaly, Cleft ... ORPHA:261197
Sweeney-Cox Syndrome
High palate, Cleft palate, Overfolded helix, Cutaneous syndactyly, Short philtrum, Bilateral cryp... OMIM:617746
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Stenosis of the external a... OMIM:616367
Holoprosencephaly 7
Hypoplasia of the premaxilla, Macrocephaly, Upslanted palpebral fissure, Panhypopituitarism, Depr... OMIM:610828
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Macrocephaly, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed... OMIM:616331
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Abnormality of the twelfth ... ORPHA:268882
Bresek Syndrome
Protruding ear, Optic nerve hypoplasia, Hypoplasia of the bladder, Neonatal death, Renal dysplasi... ORPHA:85284
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Sensorineural hearing impairment, Thick corpus callosum, Abnormality of the endocrine system, Gin... ORPHA:464288
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Vascular ring, Knee flexion contracture OMIM:603387
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism, Cerebral atrophy, Retrognathia, Finger clinodactyly, Osteoporosis, Epicanthus, Pa... ORPHA:2958
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Horseshoe kidney, Pal... OMIM:607323
Bardet-Biedl Syndrome 16
Recurrent otitis media, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, R... OMIM:615993
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Short mandibular rami, Microtia, Delayed eruption of teeth, Horner... OMIM:141300
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Depressed nasal bridge, Short neck, Downslanted palpebral fissures, HbH hemoglobin, ... OMIM:141750
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Hypoplastic nasal septum, Microtia, Aplasia/hypoplasia involvin... ORPHA:40366
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Micrognathia, Retrognathia, Glossoptosis, Bilateral cond... OMIM:615706
20Q11.2 Microduplication Syndrome
Pectus excavatum, Depressed nasal bridge, Pectus carinatum, Downslanted palpebral fissures, Short... ORPHA:363659
Burn-Mckeown Syndrome
Cleft palate, Short philtrum, Mandibular prognathia, Cleft upper lip, Short palpebral fissure, Un... OMIM:608572
Tarp Syndrome
High palate, Pectus excavatum, Short sternum, Cleft palate, Hypoplasia of the radius, Cutaneous s... OMIM:311900
Oligomeganephronia
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... ORPHA:2260
Nablus Mask-Like Facial Syndrome
High palate, Sparse eyebrow, Craniosynostosis, Abnormality of the dentition, Depressed nasal brid... OMIM:608156
Osteopathia Striata-Cranial Sclerosis Syndrome
Macrocephaly, Cleft palate, Cerebral calcification, Delayed eruption of teeth, Abnormal metaphysi... ORPHA:2780
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Microtia, Hepatosplenomegaly, Short neck, Brachydactyly, ... ORPHA:221054
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Malar flattening, Microtia, Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia ... ORPHA:357175
Trisomy 13
Abnormal antihelix morphology, Abnormal helix morphology, Cleft palate, Abnormality of the dentit... ORPHA:3378
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Cleft palate, Absent proximal finger flexion creases, Short palpebral ... ORPHA:2839
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Myoclonus, Renal dysplasia, Tongue fasciculations, Renal cyst, Renal hypo... OMIM:614922
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Ataxia, Abnormality of s... ORPHA:320401
Intellectual Developmental Disorder, Autosomal Recessive 35
Malar flattening, Microtia, Everted lower lip vermilion, Micrognathia, Long philtrum, Hypoplasia ... OMIM:615162
Moebius Syndrome
High palate, Facial diplegia, Abnormal pinna morphology, Abnormality of the dentition, Depressed ... OMIM:157900
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Pectus excavatum, Hemivertebrae, Macrodontia, Pectus carinatum, Mandibular prognat... OMIM:263540
Bosma Arhinia Microphthalmia Syndrome
High palate, Conductive hearing impairment, Abnormal pinna morphology, Dental malocclusion, Lacri... OMIM:603457
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Ureteral obstruction, Downslante... ORPHA:90652
Treacher Collins Syndrome 3
Conductive hearing impairment, Malar flattening, Microtia, Cleft palate, Micrognathia, Downslante... OMIM:248390
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Metaphyseal dysplasia, Relative macrocephaly, Decreased response to growth hormone stimulation te... OMIM:618336
Wildervanck Syndrome
Fused cervical vertebrae, Hearing impairment, Pseudopapilledema, Abnormality of the outer ear OMIM:314600
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Macrocephaly, Cleft palate, Upslanted palpebral fissure, Microceph... ORPHA:1797
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter, Short neck, Abnormality of the spleen, Low-set, posterior... ORPHA:2487
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Treacher Collins Syndrome 1
Conductive hearing impairment, Wide mouth, Narrow mouth, Malar flattening, Microtia, Cleft palate... OMIM:154500
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Microtia, Micrognathia, Camptodactyly of finger, Hydroureter, Abnormality of... ORPHA:2547
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Patent ductus arteriosus, Vascular ring OMIM:601927
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Abnormality of the middle ear, Supernumerary nipple, Malar flatten... ORPHA:246
Fg Syndrome Type 1
High palate, Wide mouth, Malrotation of colon, Macrocephaly, Craniosynostosis, Limited elbow exte... ORPHA:93932
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ... OMIM:135100
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Coarctation of aorta, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:613854
Chromosome 16Q22 Deletion Syndrome
High palate, Depressed nasal bridge, Short neck, Broad hallux, Short palpebral fissure, Micrognat... OMIM:614541
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Low-set ears, Cerebral atrophy, Cleft palate, Brachydactyly, Hypo... OMIM:614261
Axial Mesodermal Dysplasia Spectrum
Tracheoesophageal fistula, Abnormality of the ureter, Short neck, Vertebral segmentation defect, ... ORPHA:1834
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent thumb, Cleft palate, Sparse eyebrow, Hemivertebrae, Short philtrum, Depressed nasal bridge... ORPHA:500150
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Motor stereotypy, Low-set, posteriorly rotated ears, Hypogonadism ORPHA:3306
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia OMIM:619150
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Narrow mouth, Microtia, 3-4 finger cutaneous syndactyly, Micrognath... OMIM:164220
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Multiple pterygia, Joint dislocation, Flexion contracture, Cleft palate, Thin ri... OMIM:312150
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Microretrognathia, Upslanted palpebral fissure, Hypospadias, Abnorm... ORPHA:276422
Kapur-Toriello Syndrome
Bulbous nose, Dysplastic corpus callosum, Hypoplasia of penis, Pachygyria, Intestinal malrotation... ORPHA:2328
Intellectual Developmental Disorder, Autosomal Dominant 1
Wide mouth, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Microdontia, Short nose, Long eye... OMIM:156200
Cri-Du-Chat Syndrome
High palate, Abnormal pinna morphology, Short philtrum, Short neck, Optic atrophy, Downslanted pa... OMIM:123450
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Low-set ears, S... OMIM:236500
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Kyphosis, Abnormal dental enamel morphology, Hypoplastic vertebral... ORPHA:2916
Arthrogryposis, Distal, Type 1C
High palate, Pursed lips, Cleft palate, Short neck, Rocker bottom foot, Clinodactyly of the 5th f... OMIM:619110
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Clinodacty... ORPHA:163976
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormality of the urinary system, Abnormal peripheral ... ORPHA:90117
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Accelerated skeletal maturation, Elevated circulating parathyroid hormone level, D... ORPHA:439822
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Bulbous nose, Short philtrum, Depressed nasal tip, Primary microcephaly, Thick nasal alae, Abnorm... ORPHA:293725
Cohen Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum,... ORPHA:193
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Microcephaly, Broad eyebrow, Hypoplasia of the maxilla, Narrow palpebral fissure,... OMIM:618302
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment, Clinodactyly of the 5th finger ORPHA:3023
Distal Xq28 Microduplication Syndrome
High palate, Microtia, Open mouth, Broad nasal tip, Microcephaly, Recurrent upper respiratory tra... ORPHA:293939
Martsolf Syndrome 1
High palate, Pectus excavatum, Finger joint hypermobility, Broad nasal tip, Short philtrum, Depre... OMIM:212720
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Microtia
Abnormal pinna morphology, Microtia, Anotia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Abnormality of the dentition, Microcephaly, Scolio... ORPHA:3268
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Facial diplegia, 2-3 toe syndactyly, Decreased sensory nerve conduction velocity, Fl... OMIM:218000
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Bulbous nose, Overfolded helix, Thoracic kyphoscoliosis, Pectus carinatum, Broad hal... ORPHA:481152
Coffin-Lowry Syndrome
High palate, Wide mouth, Pectus excavatum, Depressed nasal bridge, Broad finger, Delayed eruption... ORPHA:192
Smith-Magenis Syndrome
Cleft palate, Depressed nasal bridge, Abnormality of the ureter, Short philtrum, Short nose, Tent... ORPHA:819
Deafness And Myopia
Conductive hearing impairment, Profound hearing impairment, Hematuria, Proteinuria OMIM:221200
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Convex nasal ridge, Hypoplasia of the ear cartilage, Arachnodactyly, Abnormality of ... ORPHA:1035
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Diabetic Embryopathy
Vertebral segmentation defect, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Microtia, ... ORPHA:1926
Otopalatodigital Syndrome Type 1
Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures, Sandal gap, Bowing of the l... ORPHA:90650
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal pinna morphology, Protruding ear, Clinodactyly of the 5th finger, Hypoplasia of penis, A... ORPHA:3068
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Macroglossia... ORPHA:90674
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Sprengel anomaly, Bulbous nose, Macrocephaly, Malar flattening, Hemivertebrae, Depre... ORPHA:2180
Cenani-Lenz Syndrome
Hypoplasia of the radius, Short philtrum, Radioulnar synostosis, Hypoplasia of the ulna, Downslan... ORPHA:3258
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal agenesis, Hearing impairment, Renal hypoplasia, Hydronephrosis, Recurrent otitis media, Low... OMIM:618494
Endosteal Hyperostosis, Worth Type
Sensorineural hearing impairment, Torus palatinus, Clavicular sclerosis, Abnormal form of the ver... ORPHA:2790
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Broad hallux, Genu valgum, Contracture of the proximal interphalangeal joint of the 5th finger, A... ORPHA:293967
Auriculocondylar Syndrome
Abnormal pinna morphology, Abnormality of the crus of the helix, Macrocephaly, Cleft palate, Mand... ORPHA:137888
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sensorineural hearing impairment, Truncal ataxia, Kinetic tremor, Renal hypoplasia, Gait ataxia, ... OMIM:616817
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Abnormality o... ORPHA:96170
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia OMIM:618845
Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Malabsorption, Coombs-positive hemolytic anemia... ORPHA:83471
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, High palate, Macrocephaly, Pectus excavatum, Furrowed tongue, Hypoplasia of the m... OMIM:300534
Myofibrillar Myopathy 11
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... OMIM:619178
Split-Hand/Foot Malformation 3
High palate, Abnormal pinna morphology, Narrow mouth, Microretrognathia, Cleft palate, Camptodact... OMIM:246560
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... ORPHA:1435
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Hypsarrhythmia OMIM:616341
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Abnormal rib cage morphology, Unilateral renal agenesis, Hemivertebrae, Posteri... OMIM:608406
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Osteopenia, Femoral bowing, Short neck, Platyspondyly, Depressed nasal bridge, ... OMIM:616723
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Narrow mouth, Aplasia/Hypoplasia involving the nose, Lacrimal d... ORPHA:1529
X-Linked Intellectual Disability, Sutherland-Haan Type
Anal atresia, Upslanted palpebral fissure, Microcephaly, Hypoplasia of the maxilla, Decreased tes... ORPHA:93950
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, EEG abnormality OMIM:300495
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Low-set, po... ORPHA:2972
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Warburg-Cinotti Syndrome
High palate, Flexion contracture of finger, Symblepharon, Osteolytic defects of the phalanges of ... OMIM:618175
Meier-Gorlin Syndrome 5
Cryptorchidism, Microtia, Micropenis, Micrognathia, Prominent metopic ridge, Microcephaly, Long p... OMIM:613805
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Wide mouth, Pectus excavatum, Down-sloping shoulders, Downslanted palpebral fissures... OMIM:227330
1P36 Deletion Syndrome
Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ribs, Pyloric stenosis, Optic atrophy,... ORPHA:1606
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, Motor stereotypy, Ataxia, Hyperglycinuria, EEG abnormality, Hyperp... OMIM:239500
Even-Plus Syndrome
High palate, Epiphyseal dysplasia, Anal atresia, Dysplastic corpus callosum, Hypodontia, Depresse... OMIM:616854
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Micrognathia, Hyperplasia of the maxilla, Depressed nasal bridge, Hypo... OMIM:617616
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Treacher Collins Syndrome 2
Conductive hearing impairment, Cleft palate, Microtia, Micrognathia, Downslanted palpebral fissur... OMIM:613717
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Cleft palate, Thin ribs, Micrognathia,... OMIM:253290
Koolen-De Vries Syndrome
High palate, Bulbous nose, Pectus excavatum, Slender finger, Prominent fingertip pads, Cleft pala... OMIM:610443
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Bulbous nose, Pectus excavatum, Short philtrum, Short neck, Tented upper lip vermili... ORPHA:247262
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Otitis media, Splenomegaly, Aplasia of the thymus, Eosinophilia, Abnormally low T ce... OMIM:602450
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Isotretinoin Syndrome
Cleft palate, Microtia, Micrognathia, Depressed nasal bridge, Spina bifida occulta, Abnormality o... ORPHA:2305
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Aicardi Syndrome
Hiatus hernia, Cleft palate, Hemivertebrae, Optic disc coloboma, Polymicrogyria, Optic atrophy, B... OMIM:304050
Cleft Velum
Conductive hearing impairment, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Recurrent... ORPHA:99772
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Abnormal pinna morphology, Pectus excavatum, Craniosynostosis, Osteopenia, Shallow o... OMIM:182212
Contractures-Developmental Delay-Pierre Robin Syndrome
Cleft palate, Overfolded helix, Radioulnar synostosis, Downslanted palpebral fissures, Abnormalit... ORPHA:436003
Ciliary Dyskinesia, Primary, 40
Congenitally corrected transposition of the great arteries, Right aortic arch, Patent ductus arte... OMIM:618300
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal aor... ORPHA:3400
15Q Overgrowth Syndrome
High palate, Macrocephaly, Craniosynostosis, Downslanted palpebral fissures, Horseshoe kidney, Ab... ORPHA:314585
Cleidocranial Dysplasia
Macrocephaly, Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Down-sloping sh... ORPHA:1452
Asymmetric Short Stature Syndrome
Convex nasal ridge, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae, Dental crowding OMIM:108450
Cerebrofacioarticular Syndrome
Osteopenia, Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Anteriorly placed anus,... ORPHA:314679
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Bulbous nose, Cleft palate, Small finger, Hypoplasia of the maxilla, Delayed skeleta... OMIM:170390
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Pectus excavatum, Horizontal sacrum, Depressed nasal bridge, Pectus carinatum, Short... OMIM:211910
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Conductive hearing impairment, Convex nasal ridge, Malar flattening, ... ORPHA:93262
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Conductive hearing impairment, Supernumerary tooth, Thick eyebrow, Prominent fingert... OMIM:617412
Malan Syndrome
Gingival overgrowth, Narrow mouth, Macrocephaly, Accelerated skeletal maturation, Pectus excavatu... OMIM:614753
Aarskog-Scott Syndrome
Testicular atrophy, Pectus excavatum, Cleft palate, Short neck, Downslanted palpebral fissures, S... OMIM:305400
Cousin Syndrome
Cleft palate, Microtia, first degree, Absent proximal finger flexion creases, Clinodactyly of the... OMIM:260660
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Macrocephaly, Flexion contracture, Microtia, Neonatal death, Congenital pyloric atresia, Antevert... OMIM:612138
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Distal Tetrasomy 15Q
Hydrocele testis, High palate, Abnormal helix morphology, Craniosynostosis, Horseshoe kidney, Fle... ORPHA:314588
Carey-Fineman-Ziter Syndrome 2
Protruding ear, Velopharyngeal insufficiency, High, narrow palate, Micrognathia, Scoliosis, Long ... OMIM:619941
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hemivertebrae, Depressed nasal bridge, Tapered finger, Short nose, HbH hemoglobin, Umbilical hern... OMIM:301040
Osteopathia Striata With Cranial Sclerosis
High palate, Macrocephaly, Pectus excavatum, Cleft palate, Overfolded helix, Broad ribs, Delayed ... OMIM:300373
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Convex nasal ridge, Cryptorchidism, Decreased response to growth hormone stimulation test, Microp... OMIM:241410
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Limb ataxia, Limb hypertonia, Hyperechogenic kidneys, Optic atrop... OMIM:617595
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Abnormality of the ureter, Carious teeth, Downslanted palpebral fis... ORPHA:3253
Toluene Embryopathy
Protruding ear, Cryptorchidism, Short palpebral fissure, Thin vermilion border, Micrognathia, Mic... ORPHA:1920
Hypothyroidism Due To Tsh Receptor Mutations
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Macroglossia, Delaye... ORPHA:90673
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures, Postaxial polydactyly, Micr... ORPHA:404440
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Abnormal pinna morphology, Absence of renal corticomedullary differentiation, Micropenis, Unilate... OMIM:617641
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cleft palate, Craniosynostosis, Hemivertebrae, Barrel-shaped chest, Short neck, Pectus carinatum,... OMIM:178110
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Parenti-Mignot Neurodevelopmental Syndrome
Prominent nasal tip, Craniosynostosis, Microtia, Micrognathia, Cupped ear, Short philtrum, Upslan... OMIM:619873
Aminopterin Syndrome Sine Aminopterin
High palate, Macrocephaly, Cleft palate, Umbilical hernia, Micrognathia, Clinodactyly, Rudimentar... OMIM:600325
Megalocornea-Mental Retardation Syndrome
Large fleshy ears, High palate, Macrocephaly, Genu recurvatum, Cerebral cortical atrophy, Arachno... OMIM:249310
Codas Syndrome
Overfolded helix, Depressed nasal bridge, Congenital hip dislocation, Crumpled ear, Delayed erupt... ORPHA:1458
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... OMIM:132900
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft upper lip, Pectus excavatum, Cleft palate, Microtia, Overfolded helix, Cupped ... OMIM:609654
Distal Monosomy 10P
Ectopic anus, Joint stiffness, Anal atresia, Clinodactyly of the 5th finger, Convex nasal ridge, ... ORPHA:1580
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal helix morphology, Joint contracture of the hand, Aminoaciduria, Cleft palate, Stippled c... OMIM:214110
Simpson-Golabi-Behmel Syndrome
Wide mouth, Macrocephaly, Abnormal helix morphology, Accelerated skeletal maturation, Cleft palat... ORPHA:373
Zimmermann-Laband Syndrome
High palate, Wide mouth, Bulbous nose, Cleft palate, Short neck, Downslanted palpebral fissures, ... ORPHA:3473
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Nephrogenic diabetes insipidus, Sup... ORPHA:3145
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Macrocephaly, Pectus excavatum, Long nose, Short philtrum, Hypoplasia of the maxilla... OMIM:309520
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Lymphopenia, Diffuse mesangial sclerosis, Aplasia of the thymus, Splenomegaly, Horizon... OMIM:102700
Kagami-Ogata Syndrome
Kyphoscoliosis, Short palpebral fissure, Flexion contracture, Microtia, Retrognathia, Micrognathi... OMIM:608149
17Q24.2 Microdeletion Syndrome
Short philtrum, Short neck, Abnormality of the ankles, Upper limb undergrowth, Downslanted palpeb... ORPHA:529962
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... ORPHA:139431
Distal Monosomy 7Q36
Wide mouth, Bulbous nose, Clinodactyly of the 5th finger, Pectus excavatum, Hypoplasia of penis, ... ORPHA:1636
Orofaciodigital Syndrome Xvii
Hearing impairment, Low-set ears, Renal hypoplasia, Micropenis OMIM:617926
Meier-Gorlin Syndrome 6
Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Downslanted palpebral fissures, Shor... OMIM:616835
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short philtrum, Platyspondyly, Short ne... ORPHA:93267
Cree Mental Retardation Syndrome
Pectus excavatum, Cryptorchidism, Micrognathia, Hypospadias, Downslanted palpebral fissures, Apla... OMIM:606851
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Renal tubular dysfunction, Wide anterior fontanel, Cerebral atrophy, Prominence o... OMIM:614886
Acrocallosal Syndrome
High palate, Wide mouth, Abnormal pinna morphology, Macrocephaly, Triangular mouth, Cleft palate,... OMIM:200990
Intellectual Developmental Disorder, Autosomal Dominant 43
High palate, Frontal cortical atrophy, Attached earlobe, Short philtrum, Tapered fin