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 1.18×10-32

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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.

Phenotype associated images not available

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
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Facial palsy, Facial paralysis, External ear malformation, Abnorma... OMIM:124490
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Deafness-Ear Malformation-Facial Palsy Syndrome
Conductive hearing impairment, Facial palsy, Hypoplasia of the antihelix, Aplasia/Hypoplasia of t... ORPHA:3232
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Conductive hearing impairment, Abnormality of the pinna, Bilateral conductive hearing impairment,... OMIM:128980
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Sensorineura... OMIM:602588
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo ORPHA:3230
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Mandibulofacial Dysostosis-Microcephaly Syndrome
Cleft palate, Overfolded helix, Accessory oral frenulum, Malar flattening, Short nose, Telecanthu... ORPHA:79113
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Femoral-Facial Syndrome
Cleft palate, Short nose, Abnormal localization of kidney, Aplasia/Hypoplasia of the corpus callo... ORPHA:1988
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Monosomy 9P
Hypospadias, Abnormality of the vertebral column, Cleft palate, Short nose, Malar flattening, Pro... ORPHA:261112
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment 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
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Abnormal palate morphology, Aplasia/Hypoplasia of the middle ear, ... ORPHA:3236
Ear-Patella-Short Stature Syndrome
Hypospadias, Cleft palate, Aplastic clavicle, Hearing impairment, Delayed skeletal maturation, Ca... ORPHA:2554
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Hearing impairment, Finger syndactyly, Delayed skeletal maturation, Lo... OMIM:264475
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Micrognathia, Cleft palate, Abnormality of femur morphology, Abnormality of pe... ORPHA:3429
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular Schwannoma OMIM:613641
Acrootoocular Syndrome
Prominent calcaneus, Delayed eruption of teeth, Delayed skeletal maturation, Short toe, Low-set e... ORPHA:2980
Acrofacial Dysostosis, Cincinnati Type
Femoral bowing, Micrognathia, Cleft palate, Macrotia, Downslanted palpebral fissures, Patent duct... OMIM:616462
Treacher-Collins Syndrome
Abnormality of the vertebral column, Cleft palate, Thyroid hypoplasia, Abnormality of bone minera... ORPHA:861
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormality of the vertebral column, Conductive hearing impairment, Micrognathia, Cleft palate, B... OMIM:239800
Nager Syndrome
Cleft palate, Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasi... ORPHA:245
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Micrognathia, Abnormality of the ureter, Malar prominence, Convex nasal ridge, Pectu... ORPHA:2522
Van Maldergem Syndrome 2
Hypospadias, Cutaneous finger syndactyly, Malar flattening, Short palpebral fissure, Micropenis, ... OMIM:615546
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Microtia, first degree, Aplasia of the inner ear, Profound sensorineural hearing impairment, Ante... OMIM:610706
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Maternal diabetes, Cleft palate, Wide mouth, Ectopic anus, Triphal... ORPHA:2549
Craniofacial Microsomia
Cleft palate, Malar flattening, Patent ductus arteriosus, Ureteropelvic junction obstruction, Blo... OMIM:164210
Johnson Neuroectodermal Syndrome
Carious teeth, Conductive hearing impairment, Cleft palate, Facial palsy, Choanal atresia, Downsl... ORPHA:2316
Van Maldergem Syndrome 1
Hypospadias, Cutaneous finger syndactyly, Malar flattening, Short palpebral fissure, Short fourth... OMIM:601390
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Johnson Neuroectodermal Syndrome
Carious teeth, Conductive hearing impairment, Cleft palate, Choanal stenosis, Hypogonadotropic hy... OMIM:147770
Branchiootorenal Syndrome 1
Branchial cyst, Cleft palate, Dilatated internal auditory canal, Cholesteatoma, Renal dysplasia, ... OMIM:113650
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Monosomy 22
Finger syndactyly, Micropenis, Hepatosplenomegaly, High palate, Long philtrum, Epicanthus, Contra... ORPHA:96123
Branchiooculofacial Syndrome
Hypospadias, Pyloric stenosis, Cleft palate, Short nasal septum, Agenesis of cerebellar vermis, O... OMIM:113620
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Cleft palate, Genu varum, Joint contracture of the hand, Short ribs,... OMIM:224690
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis, Hearing impairment OMIM:235740
Bor Syndrome
Branchial cyst, Enlarged cochlear aqueduct, Hydronephrosis, Cleft palate, Hypoplasia of the cochl... ORPHA:107
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Abnormality of the middle ... OMIM:221300
Chromosome 18Q Deletion Syndrome
Hypospadias, Cleft palate, Decreased response to growth hormone stimulation test, Malar flattenin... OMIM:601808
Lateral Meningocele Syndrome
Smooth philtrum, Abnormal form of the vertebral bodies, Malar flattening, Low-set ears, Atresia o... ORPHA:2789
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid hypoplasia, Patent ductus arteriosus, Short palpebral fissure, Bulbous nose, Thyroid agen... ORPHA:3047
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Conductive hearing impairment, Micrognathia, Congenital bilateral ptosis, Malar flattening, Joint... OMIM:608257
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Micrognathia, High palate, Hypoplastic scapulae, Scapulohumeral sy... OMIM:602471
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Widely spaced teeth, Underdeveloped nasal alae, Micrognathia, Aplasia of the inner ear, Hypodonti... ORPHA:90024
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Delayed eruption of permanent teeth, Congenital hypothyroidism, Short philtrum, Tapered finger, T... ORPHA:521445
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Micrognathia, Short clavicles, Renal agenesis, Hypoplastic scapulae, Epiphyseal s... OMIM:308050
Cardiospondylocarpofacial Syndrome
Telecanthus, Pseudoepiphyses, Delayed skeletal maturation, Anteverted nares, Rib fusion, Conducti... OMIM:157800
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Aortopulmonary collateral arteries, Tetralogy of Fallot, Double aortic arch, P... OMIM:618780
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Cleft palate, Broad thumb, Abnormality of the philtrum, Polycystic ova... ORPHA:1770
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Stereotypy OMIM:300425
Autism
EEG abnormality, Stereotypy OMIM:209850
Pallister-Hall Syndrome
Cleft palate, Renal dysplasia, Neonatal death, Microglossia, Short nose, Patent ductus arteriosus... OMIM:146510
Autism, Susceptibility To, 8
EEG abnormality, Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Stereotypy OMIM:608636
Mandibulofacial Dysostosis, Guion-Almeida Type
Cleft palate, Overfolded helix, Short nose, Malar flattening, Telecanthus, Proximal placement of ... OMIM:610536
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Cleft palate, Triphalangeal thumb, Hypoplasia of first ribs, Aplasia/Hypoplasia of... OMIM:154400
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Bilateral ptosis, Short nose, Syndactyly, Thin... OMIM:614701
Kbg Syndrome
Oligodontia, Telecanthus, Syndactyly, Delayed skeletal maturation, Anteverted nares, Underdevelop... OMIM:148050
Cooper-Jabs Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Malar flattening, Atresia of th... ORPHA:1488
Warsaw Breakage Syndrome
Cupped ear, Hypoplasia of the cochlea, Optic disc coloboma, Hearing impairment OMIM:613398
Otofaciocervical Syndrome
Conductive hearing impairment, High palate, Depressed nasal bridge, Abnormal clavicle morphology,... ORPHA:2792
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Absent uvula, Malar flattening, Short nose, Broad toe,... OMIM:268310
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... ORPHA:3216
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... OMIM:305620
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Underdeveloped nasal alae, Micrognathia, High palate, Long philtrum, Ptosis, Cervical C2/C3 verte... OMIM:616549
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Cleft palate, Triphalangeal thumb, Complete duplication of thumb p... OMIM:141400
Isotretinoin-Like Syndrome
Micrognathia, Cleft palate, Thin anteverted nares, Upslanted palpebral fissure, Aplasia/Hypoplasi... ORPHA:2306
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Micrognathia, Atresia of the external auditory canal, Hearing impairmen... ORPHA:268249
Lambotte Syndrome
Convex nasal ridge, Macrotia, Telecanthus, Preaxial foot polydactyly, Narrow mouth, Retrognathia,... OMIM:245552
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Cleft palate, Thyroid hypoplasia, Abnormal localization of kidney, Abnormality of th... ORPHA:2166
Branchiogenic Deafness Syndrome
Branchial cyst, Conductive hearing impairment, Cleft palate, Branchial fistula, Overfolded helix,... ORPHA:50815
Mosaic Trisomy 14
Hypospadias, Micrognathia, Cleft palate, High palate, Wide mouth, Ectopic anus, Ptosis, Low-set, ... ORPHA:1703
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Sensorineural hearing impairment, Abnormality of the middle ea... OMIM:609166
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, 2-3 toe syndactyly, Cleft palate, Sparse eyelashes, Patent ductus arteriosus, Microp... OMIM:106260
Acrocraniofacial Dysostosis
Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Telecanthus, Short 1st ... ORPHA:949
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm ORPHA:1455
Pallister-Hall Syndrome
Hypospadias, Abnormal prolactin level, Arrhinencephaly, Cleft palate, Distal arthrogryposis, Poly... ORPHA:672
Heterotaxy, Visceral, 4, Autosomal
Right aortic arch OMIM:613751
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Cleft palate, Microdontia of primary teeth, Sparse eyelashes, Short nose, Patent ductus arteriosu... OMIM:213980
Neurofaciodigitorenal Syndrome
Pectus excavatum, Triphalangeal thumb, Abnormality of the elbow, Abnormal antitragus morphology, ... ORPHA:2673
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cleft palate, Abnormal cranial nerve morphology, Ectopic anu... ORPHA:2345
Ohdo Syndrome
Smooth philtrum, Short nose, Hearing impairment, Stenosis of the external auditory canal, Antever... OMIM:249620
Microphthalmia With Limb Anomalies
Arrhinencephaly, Cleft palate, Death in infancy, Abnormal form of the vertebral bodies, Finger sy... ORPHA:1106
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Cleft palate, Hypoplastic nipples, Syndactyly, Low-set ears, Umbilical hernia, Dyspl... OMIM:265000
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Irregular myelin loops, Abnormal auditory evoked poten... OMIM:601382
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Branchiootic Syndrome
Conductive hearing impairment, Micrognathia, Morphological abnormality of the middle ear, Cleft p... ORPHA:52429
Vacterl With Hydrocephalus
Micrognathia, Arrhinencephaly, Renal agenesis, Hemivertebrae, Abnormal form of the vertebral bodi... ORPHA:3412
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... OMIM:303110
Hypertelorism-Microtia-Facial Clefting Syndrome
Horseshoe kidney, Conductive hearing impairment, Median cleft lip and palate, Bifid nose, Crossed... ORPHA:2213
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... OMIM:611572
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Genu varum, Phocomelia, Finger syndactyly, Tibial torsion, Micrognathia, Aplasia/Hy... ORPHA:3320
Smith-Magenis Syndrome
Everted upper lip vermilion, Morphological abnormality of the middle ear, Mandibular prognathia, ... OMIM:182290
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Schinzel-Giedion Syndrome
Hypospadias, Neural tube defect, Short nose, Delayed eruption of teeth, Micropenis, Short 1st met... ORPHA:798
Kbg Syndrome
Cleft palate, Oligodontia, Telecanthus, Thin upper lip vermilion, Delayed skeletal maturation, An... ORPHA:2332
Robinow Syndrome, Autosomal Dominant 2
Short nose, Hearing impairment, Micropenis, Thin upper lip vermilion, Anteverted nares, Umbilical... OMIM:616331
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Cleft palate, Abnormal intervertebral disk morphology, Abnormal form of the vertebra... ORPHA:2311
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Death in infancy, Chronic otitis media, Short nose, Hearing impairment, Fin... ORPHA:1507
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Fraser Syndrome 1
Hypospadias, Cutaneous finger syndactyly, Cleft palate, Aplasia/Hypoplasia of the thumb, Midline ... OMIM:219000
Crouzon Syndrome
Conjunctivitis, Conductive hearing impairment, Optic atrophy, Shallow orbits, Mandibular prognath... OMIM:123500
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Carious teeth, Cleft palate, Short palpebral fissure, Low-set ears, Micrognathia, De... OMIM:616734
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Micrognathia, High palate, Underdeveloped nasal alae, Cutaneous ma... OMIM:248910
Autosomal Recessive Multiple Pterygium Syndrome
Cleft palate, Abnormal sternum morphology, Symphalangism affecting the phalanges of the hand, Tel... ORPHA:2990
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Moderate hearing impairment, Broad nasal tip, Short 5th metacarpal, Curved distal phalanx of the ... ORPHA:370010
Aortic Aneurysm, Familial Thoracic 7
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Cleft palate, Cleft upper lip, Cervical C2/C3 vertebral fusion, Ab... OMIM:214300
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Aarskog-Scott Syndrome
Cleft palate, Delayed eruption of teeth, Genu recurvatum, Finger syndactyly, Camptodactyly of fin... ORPHA:915
Radial-Renal Syndrome
Ectopic kidney, External ear malformation, Unilateral renal agenesis OMIM:179280
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Cubitus valgus, Abnormal form of the vertebral bodies, Short nose, Telecanthus, De... ORPHA:1327
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Abnormality of the auditory canal, Facial palsy, Abnormality of the tymp... ORPHA:100084
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Depressed nasal ridge, Abnormality of the knee, Abnormality of the ur... ORPHA:2412
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Cleft palate, Telecanthus, Bilateral conductive hearing impairment, Abnormalit... ORPHA:2010
Renal Coloboma Syndrome
Renal hypoplasia, Renal dysplasia, Optic disc coloboma, Hearing impairment, Multicystic kidney dy... ORPHA:1475
Apert Syndrome
Ovarian neoplasm, Cleft palate, Aplasia/Hypoplasia of the thumb, Delayed eruption of teeth, Finge... ORPHA:87
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Optic atrophy, Stenosis of the external auditory canal ORPHA:1513
Koolen-De Vries Syndrome
Hypospadias, Pyloric stenosis, Cleft palate, Overfolded helix, Abnormal dental enamel morphology,... ORPHA:96169
Kniest Dysplasia
Cleft palate, Pierre-Robin sequence, Bilateral ptosis, Short thorax, Hearing impairment, Short lo... ORPHA:485
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment, Vesicoureteral reflux OMIM:605192
14Q22Q23 Microdeletion Syndrome
Short 5th metacarpal, Abnormality of the hypothalamus-pituitary axis, Malar flattening, Hearing i... ORPHA:264200
Cerebrocostomandibular Syndrome
Meningocele, Conductive hearing impairment, Micrognathia, Cleft palate, Hydranencephaly, Myelomen... ORPHA:1393
Lamb-Shaffer Syndrome
Optic atrophy, Micrognathia, Broad nasal tip, Epicanthus, Fused cervical vertebrae, Decreased hea... ORPHA:530983
Temple Syndrome
Micrognathia, Cleft palate, High palate, Short philtrum, Depressed nasal bridge, Maturity-onset d... OMIM:616222
Marshall-Smith Syndrome
Overfolded helix, Short nose, Malar flattening, Patent ductus arteriosus, Hearing impairment, Atl... OMIM:602535
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Conductive hearing impairment, Hydronephrosis ORPHA:2669
3Mc Syndrome 2
Hypospadias, Abnormality of the vertebral column, Cleft palate, Hearing impairment, Limited elbow... OMIM:265050
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Diamond-Blackfan Anemia 11
Cleft palate, Neutropenia, Renal agenesis, Anemia, Bone marrow hypocellularity, Hypoplasia of the... OMIM:614900
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Ptosis, Chronic otitis media, Atresia of the external auditory can... OMIM:221320
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Cleft palate, Smooth philtrum, Pierre-Robin sequence, Hearing impairment, Thin upper... OMIM:611209
Frontometaphyseal Dysplasia
Cleft palate, Oligodontia, Short metatarsal, Subglottic stenosis, Joint contracture of the hand, ... ORPHA:1826
Atelosteogenesis, Type I
Cleft palate, Distal tapering femur, Short metatarsal, Neonatal death, Short nose, Malar flatteni... OMIM:108720
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Short nose, Malar flattening, Patent ductus arteriosus, Micropenis, Cerebral atrophy... ORPHA:171839
Fetal Encasement Syndrome
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Upper limb undergrowth, Apl... OMIM:613630
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Spastic diplegia, Hypsarrhythmia, Stereotypy OMIM:617830
Zttk Syndrome
Short nose, Patent ductus arteriosus, Cerebellar hypoplasia, Unilateral renal agenesis, Hypoplasi... OMIM:617140
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Wolf-Hirschhorn Syndrome
Hypospadias, Abnormality of the vertebral column, Cleft palate, Chronic otitis media, Abnormal fo... ORPHA:280
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis OMIM:184460
Isotretinoin Embryopathy-Like Syndrome
Anotia, Micrognathia, Cleft palate, Microtia OMIM:243440
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, 2-3 toe syndactyly, Abnormality of the optic disc, Hearing impairment, Short palpebr... ORPHA:508498
Apert Syndrome
Pyloric stenosis, Cutaneous finger syndactyly, Cleft palate, Chronic otitis media, Malar flatteni... OMIM:101200
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hearing impairment, Micropenis, Primary amenorrhea, Unilateral ren... OMIM:244200
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Doors Syndrome
Adrenal hyperplasia, Arrhinencephaly, Cleft palate, Sirenomelia, Triphalangeal thumb, Bilateral p... ORPHA:79500
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries OMIM:231060
Aicardi Syndrome
Cleft palate, Aplasia/Hypoplasia of the cerebellum, Polymicrogyria, Block vertebrae, Protruding e... ORPHA:50
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Cleft palate, Triphalangeal thumb, Ectopic anus, Low-set, posteriorly rotated ears, Epicanthus, D... ORPHA:2994
Au-Kline Syndrome
Underdeveloped nasal alae, Pectus excavatum, High palate, Cleft palate, Oligodontia, Ptosis, Post... OMIM:616580
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
16P13.11 Microdeletion Syndrome
Pectus excavatum, Cleft palate, Smooth philtrum, Wide mouth, Depressed nasal bridge, Metatarsus v... ORPHA:261236
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231169
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis, Conductive hearing impairment, Rocker bottom foot, Epicanthus, Congenital hip d... OMIM:133705
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Esophageal varix, Hip contracture, Thyroid hypoplasia, Chronic otitis media, Short nose, Telecant... OMIM:619503
Dextrocardia With Unusual Facies And Microphthalmia
Prominent nose, Micrognathia, Cleft palate, Vertebral fusion, Macrotia, Supernumerary ribs, Verte... OMIM:221950
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Sparse eyelashes, Bilateral ptosis, Bulbous nose, Celiac disease, Perive... ORPHA:544488
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment OMIM:600501
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Coronary artery aneurysm, Abdominal aortic aneurysm, Ascending aortic... OMIM:615436
8Q22.1 Microdeletion Syndrome
Underfolded helix, Sparse eyelashes, Telecanthus, Finger syndactyly, Camptodactyly of finger, Spa... ORPHA:178303
Waardenburg Syndrome, Type 2E
Morphological abnormality of the vestibule of the inner ear, Dilated vestibule of the inner ear, ... OMIM:611584
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
6Q16 Microdeletion Syndrome
Micrognathia, Depressed nasal bridge, Almond-shaped palpebral fissure, Tapered finger, Upslanted ... ORPHA:171829
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Micrognathia, Cleft palate, Macrocytic anemia, Malar flattening, P... OMIM:613309
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Horseshoe kidney, Renal hypoplasia, Neutropenia, Colpocephaly, Opt... OMIM:609053
Lateral Meningocele Syndrome
Smooth philtrum, Malar flattening, Patent ductus arteriosus, Low-set ears, Umbilical hernia, Meni... OMIM:130720
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Depressed nasal bridge, Pectus carinatum, Long philtrum, Broad thumb, Malar... ORPHA:261295
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Butterfly vertebrae, Renal agenesis, Duodenal atresia, Wide nose, Esophageal at... OMIM:619227
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Aplasia of the olfactory bulb, Intestinal pseudo-obstruction, Ptosis, Arth... OMIM:243180
Holoprosencephaly 9
Cleft palate, Malar flattening, Hypoplasia of the premaxilla, Micropenis, Anterior pituitary hypo... OMIM:610829
Renpenning Syndrome
Hypospadias, Round ear, Cleft palate, Thin eyebrow, Malar flattening, Diabetes mellitus, Prominen... ORPHA:3242
Wilson-Turner Syndrome
Micrognathia, Broad nasal tip, Tapered finger, Hypogonadotropic hypogonadism, Small hand, Short f... ORPHA:3459
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Optic atrophy, Smooth philtrum, Subcortical band heterotopia, Upslanted palpebral fissure, Pachyg... OMIM:618737
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Cerebrofaciothoracic Dysplasia
Cleft palate, Short nose, Vertebral segmentation defect, Epicanthus, Downslanted palpebral fissur... ORPHA:1394
Cornelia De Lange Syndrome
Hypospadias, Pyloric stenosis, Abnormality of the ulna, Cleft palate, Hypoplastic nipples, Volvul... ORPHA:199
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Neonatal death, Abnormality of the pinna, Renal cyst OMIM:228940
Meier-Gorlin Syndrome 8
Low-set ears, Renal hypoplasia, Microtia OMIM:617564
Coxoauricular Syndrome
Abnormality of femur morphology, Abnormality of pelvic girdle bone morphology, Reduced bone miner... ORPHA:1508
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Right ventricular hypertrophy, Abnormal... ORPHA:860
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia OMIM:251800
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Jerky head movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Metaphyseal dysplasia, Abnormalit... ORPHA:93316
Diastrophic Dysplasia
Cleft palate, Overfolded helix, Abnormal form of the vertebral bodies, Symphalangism affecting th... ORPHA:628
Ring Chromosome 8 Syndrome
Round ear, Hydronephrosis, Abnormality of the ureter, Abnormal palate morphology, Short nose, Epi... ORPHA:1450
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Cleft palate, Pierre-Robin sequence, Hip contracture, Short metatarsal, Patent ... OMIM:617137
Robinow Syndrome
Short nose, Micropenis, Syndactyly, Anteverted nares, Low-set ears, Broad alveolar ridges, Triang... ORPHA:97360
Oculoauriculofrontonasal Syndrome
Limbal dermoid, Conductive hearing impairment, Micrognathia, Cleft palate, Underdeveloped nasal a... ORPHA:398156
Chromosome 22Q11.2 Duplication Syndrome
Depressed nasal ridge, Micrognathia, High palate, Velopharyngeal insufficiency, Abnormality of th... OMIM:608363
Distal Monosomy 17Q
Optic atrophy, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Upslanted palpebral ... ORPHA:1597
Fraser Syndrome
Hypospadias, Death in infancy, Midline nasal groove, Finger syndactyly, Atresia of the external a... ORPHA:2052
Urban-Rogers-Meyer Syndrome
Overfolded helix, Camptodactyly of finger, Toe syndactyly, Micrognathia, Abnormality of the urete... ORPHA:3409
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Lujan-Fryns Syndrome
Macroorchidism, Micrognathia, High palate, Pectus excavatum, Short philtrum, Prominent nasal brid... ORPHA:776
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Diamond-Blackfan Anemia 7
Horseshoe kidney, Macrocytic anemia, Cleft palate, Triphalangeal thumb, Neutropenia, Increased me... OMIM:612562
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Smooth philtrum, Death in infancy, Short palpebral fissure, Bulbous nose, Diabetes mellitus, Thin... OMIM:618622
Catifa Syndrome
Cleft palate, Long philtrum, Mild microcephaly, Tooth malposition, Epicanthus, Delayed eruption o... OMIM:618761
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Cleft palate, Abnormal vertebral segmentation and fusion, Cervical... OMIM:118100
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Renal agenesis, Azoospermia, Unilateral renal agenesis, Ectopic ki... OMIM:601076
Barber-Say Syndrome
Hypoplastic nipples, Wide mouth, Ectropion, Abnormality of the pinna, Wide nasal bridge, Delayed ... ORPHA:1231
Pfeiffer Syndrome Type 2
Broad hallux phalanx, Cleft palate, Short nose, Malar flattening, Finger syndactyly, Deviation of... ORPHA:93259
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Spasticity ORPHA:99852
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentration, Reduced rad... ORPHA:226307
Femoral-Facial Syndrome
Cleft palate, Smooth philtrum, Hypoplastic acetabulae, Short nose, Micropenis, Thin upper lip ver... OMIM:134780
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Conductive hearing impairment, Micrognathia,... ORPHA:3082
Distal Limb Deficiencies-Micrognathia Syndrome
Abnormality of the ulna, Cleft palate, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the... ORPHA:1307
Carpenter Syndrome 1
Genu varum, Malar flattening, Joint contracture of the hand, Patent ductus arteriosus, Telecanthu... OMIM:201000
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Holoprosencephaly 7
Bilateral cleft lip and palate, Median cleft lip and palate, Upslanted palpebral fissure, Solitar... OMIM:610828
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Wormian bones, Platyspondyly, Shortening of all metacarpa... OMIM:601356
Trisomy 20P
Hypospadias, Smooth philtrum, Abnormal form of the vertebral bodies, Short nose, Abnormal localiz... ORPHA:261318
Cohen Syndrome
Neutropenia, Aplasia/Hypoplasia of the tongue, Cubitus valgus, Finger syndactyly, Hypoplasia of t... ORPHA:193
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Cutaneous finger syndactyly, Penoscrotal hypospadias, Superiorly displaced ears, Swan neck-like d... ORPHA:329252
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Subglottic stenosis, Short nose, Patent ductus arteriosus, Hearing impairment, Hip s... ORPHA:444077
Ablepharon Macrostomia Syndrome
Underdeveloped nasal alae, Toe syndactyly, Depressed nasal bridge, Hypoplasia of penis, Microdont... ORPHA:920
Baller-Gerold Syndrome
Cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Polymicrogyria, Short hu... OMIM:218600
Aredyld Syndrome
Abnormality of the ureter, Type II diabetes mellitus, Smooth philtrum, Mandibular prognathia, Ups... ORPHA:1133
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Optic atrophy, Thickened ribs, Depressed nasal br... OMIM:122860
Trisomy 8P
Cleft palate, Short nose, Clinodactyly of the 5th toe, Micropenis, Short 1st metacarpal, Antevert... ORPHA:264450
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Tapered finger, Prominent nasal bridge, Clinodactyly, Macrocephaly, Cryptorchidism, ... ORPHA:85279
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, High, narrow palate, Micrognathia, Temporomandibular joint ankylosis, Low-set, poste... ORPHA:2872
Zechi-Ceide Syndrome
Cleft palate, Oligodontia, Short metatarsal, Short palpebral fissure, Cleft lip, Stenosis of the ... ORPHA:217017
Acrocephalopolydactyly
Depressed nasal ridge, Thoracic hypoplasia, Short nose, Epicanthus, Genu recurvatum, Abnormality ... ORPHA:221054
Mosaic Trisomy 20
Horseshoe kidney, Micrognathia, Cleft palate, Limited pronation/supination of forearm, Vertebral ... ORPHA:1724
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Frontonasal Dysplasia 1
Joint contracture of the hand, Bifid nose, Pericallosal lipoma, Camptodactyly, Low-set ears, Hypo... OMIM:136760
Burn-Mckeown Syndrome
Renal hypoplasia, Micrognathia, Cleft palate, Conductive hearing impairment, Short philtrum, Unde... OMIM:608572
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cubitus valgus, Curly eyelashes, Short thorax, Aplasia/Hypoplasia involving the pelvis, Delayed s... ORPHA:163654
Moebius Syndrome
Lower limb undergrowth, Micropenis, Syndactyly, Camptodactyly, Abnormality of pelvic girdle bone ... OMIM:157900
Cog1-Cdg
Irregularity of vertebral bodies, Smooth philtrum, Temporal cortical atrophy, Pierre-Robin sequen... ORPHA:263508
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... ORPHA:3312
Craniometaphyseal Dysplasia
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal cranial nerve morpholog... ORPHA:1522
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft palate, Renal dysplasia, Polymicrogyria, Agyria, Cerebellar hypoplasia, Low-set ears, Atres... OMIM:236670
Mullegama-Klein-Martinez Syndrome
Prominent nose, Micrognathia, Cleft palate, Smooth philtrum, Short philtrum, Depressed nasal brid... OMIM:301022
Toluene Embryopathy
Hydronephrosis, Smooth philtrum, Micrognathia, Tapered finger, Hypoplasia of the zygomatic bone, ... ORPHA:1920
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Depressed nasal ridge, Long philtrum, Abnormality of the endocrine system, Ging... ORPHA:464288
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Abnormality of me... ORPHA:2260
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... OMIM:611788
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Cranial nerve compression, Vertigo, Adult onset sensorin... ORPHA:268882
Wolf-Hirschhorn Syndrome
Hypospadias, Cleft palate, Abnormal form of the vertebral bodies, Accessory spleen, Delayed skele... OMIM:194190
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Death in infancy, Phocomelia, Bilateral radial aplasia, Malar flattening, Finger synd... OMIM:274000
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Hearing impairment, Hypogona... OMIM:615993
Chromosome 1P36 Deletion Syndrome, Distal
Hypospadias, Asymmetry of the ears, Malar flattening, Leukoencephalopathy, Patent ductus arterios... OMIM:607872
Cleidocranial Dysplasia
Carious teeth, Sinusitis, Cleft palate, Chronic otitis media, Abnormal dental enamel morphology, ... ORPHA:1452
Bresek Syndrome
Renal hypoplasia, Aganglionic megacolon, Renal dysplasia, Neonatal death, Optic nerve hypoplasia,... ORPHA:85284
Fibrodysplasia Ossificans Progressiva
Widely spaced teeth, Conductive hearing impairment, Hallux valgus, Broad femoral neck, Ectopic os... OMIM:135100
Congenital Arthrogryposis With Anterior Horn Cell Disease
Micrognathia, High palate, Rocker bottom foot, Ptosis, Facial diplegia, Neonatal death, Arthrogry... OMIM:611890
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Conductive hearing impairment, Micrognathia, Cleft palate, Abnormal vertebral m... ORPHA:261197
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Abnormality of the philtrum, Synophrys, Epicanthus, F... ORPHA:3268
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Death in infancy, Renal tubular acidosis, Renal dysplasia, Myoclonus, Renal cys... OMIM:614922
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Conductive hearing impairment, Aplasia of the nose, Cleft palate, High palate, Hypog... OMIM:603457
Martsolf Syndrome 1
Slender ulna, Micropenis, Short toe, Hypoplasia of the maxilla, Short phalanx of finger, Microgna... OMIM:212720
Trisomy 13
Cleft palate, Malar flattening, Patent ductus arteriosus, Low-set ears, Abnormality of pelvic gir... ORPHA:3378
Auriculocondylar Syndrome 3
Question mark ear, Micrognathia, Bifid uvula, Glossoptosis, Bilateral conductive hearing impairme... OMIM:615706
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Asymmetry of the thorax, Delayed eruption of teeth, Increased bone mineral density,... ORPHA:2780
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Cleft palate, Convex nasal ridge, Craniosynostosis, Malar flattening, Short nose, F... ORPHA:2145
Nablus Mask-Like Facial Syndrome
Smooth philtrum, Hypoplastic nipples, Sparse eyelashes, Short nose, Joint contracture of the hand... OMIM:608156
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Narrow palpebral fissure, Aganglionic megacolon, Short philtrum, Ptosis, Short nose, Abnormality ... OMIM:613603
3-Hydroxyisobutyric Aciduria
Micrognathia, Long philtrum, Cerebral calcification, Hypogonadotropic hypogonadism, Aplasia/Hypop... ORPHA:939
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Recurrent upper respiratory tract i... OMIM:602450
Otopalatodigital Syndrome Type 2
Hypospadias, Cleft palate, Pierre-Robin sequence, Oligodontia, Short nose, Malar flattening, Hear... ORPHA:90652
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Conductive hearing impairment, Micrognathia, Hypoplasia of the zygomatic bone, Sup... ORPHA:3145
Acrofacial Dysostosis, Catania Type
Hypospadias, Carious teeth, Smooth philtrum, Short nose, Finger syndactyly, Delayed skeletal matu... ORPHA:1786
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Acitretin/Etretinate Embryopathy
Micrognathia, High palate, Aplasia/Hypoplasia of the maxilla, Aplasia/hypoplasia involving bones ... ORPHA:40366
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the spleen, Abnormality of the ureter, Macrotia, Low-set, posteriorly... ORPHA:2487
19P13.3 Microduplication Syndrome
Cleft palate, Telecanthus, Hip subluxation, Cerebral atrophy, Low-set ears, Underdeveloped nasal ... ORPHA:447980
Saethre-Chotzen Syndrome
Hallux valgus, Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Hearing ... ORPHA:794
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Short middle phalanx of finger, Short 1st metacarpal, Limited elbow extension, Delay... OMIM:210720
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Conductive hearing impairment, High palate, Depressed nasal bridge, Diabetes insipidus, Long phil... OMIM:618500
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Bulbous nose, Thick nasal alae, Prominent nose, Prominent nasal tip, Cleft soft ... ORPHA:293725
Wildervanck Syndrome
Abnormality of the outer ear, Pseudopapilledema, Fused cervical vertebrae, Hearing impairment OMIM:314600
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Underfolded helix, 2-3 toe syndactyly, Short middle phalanx of finger, Short pointed phalanges, B... OMIM:263540
Pde4D Haploinsufficiency Syndrome
Hypospadias, Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose... ORPHA:439822
Duane-Radial Ray Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Short humerus, Choanal atresia, Agangl... OMIM:607323
Treacher Collins Syndrome 1
Conductive hearing impairment, Micrognathia, Cleft palate, Upper eyelid coloboma, Wide mouth, Pto... OMIM:154500
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm OMIM:617349
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Smooth philtrum, Ptosis, Mandibular prognathia, Hypoplasia of the zygomatic bone, Cubitus valgus,... ORPHA:1778
Skraban-Deardorff Syndrome
Widely spaced teeth, Micrognathia, Depressed nasal bridge, Sparse lateral eyebrow, Recurrent otit... OMIM:617616
Autosomal Dominant Spondylocostal Dysostosis
Cleft palate, Abnormal sacrum morphology, Upslanted palpebral fissure, Posterior rib fusion, Miss... ORPHA:1797
20Q11.2 Microduplication Syndrome
Short nose, Micropenis, Limited elbow extension, Palpebral edema, Anteverted nares, Depressed nas... ORPHA:363659
Inverted Duplicated Chromosome 15 Syndrome
Stereotypy, Low-set, posteriorly rotated ears, Hypogonadism, Unilateral renal agenesis ORPHA:3306
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Stillbirth, Ureteral agenesis, Low... OMIM:236500
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Micrognathia, Long philtrum, Wide nose, Malar flattening, Downslanted palpebral fissures, Everted... ORPHA:357175
Microphthalmia, Syndromic 3
Hypospadias, Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Hypothalamic hamartoma, Hypogo... OMIM:206900
Chromosome 16Q22 Deletion Syndrome
Hypospadias, Short palpebral fissure, Broad hallux, Low-set ears, Highly arched eyebrow, Microgna... OMIM:614541
Cri-Du-Chat Syndrome
Hypospadias, Short metatarsal, Hearing impairment, Anterior open-bite malocclusion, Syndactyly, S... OMIM:123450
Arthrogryposis, Distal, Type 1C
Cleft palate, Hip contracture, Cleft lip, Camptodactyly of finger, Elbow flexion contracture, Hig... OMIM:619110
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Clinodactyly of the 5th finger, Hearing impairment ORPHA:3023
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Posteriorly rotated ears, Intestinal malrotation, Low-set ears, Paten... ORPHA:2328
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Mandibular prognathia, Generalized osteosclerosi... ORPHA:2790
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Patent ductus arteriosus after birth at term, Cleft palate, Smooth philtrum, Cerebellar hemispher... ORPHA:500150
Mental Retardation, Autosomal Recessive 35
Micrognathia, Long philtrum, Wide nose, Malar flattening, Downslanted palpebral fissures, Downtur... OMIM:615162
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal palate morphology, Pectus carinatum, Ptosis, Hypogonadotropic hypogonadism, Abnormal hip... ORPHA:3068
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, 2-3 toe syndactyly, High palate, Ptosis, Facial dipleg... OMIM:218000
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypospadias, Asymmetry of the thorax, Patent ductus arteriosus, Micropenis, Anteverted nares, Sup... OMIM:141750
Sweeney-Cox Syndrome
Cleft palate, Overfolded helix, Hearing impairment, Cerebellar hypoplasia, Low-set ears, Choanal ... OMIM:617746
Otopalatodigital Syndrome Type 1
Cleft palate, Oligodontia, Proximal placement of thumb, Hearing impairment, Increased bone minera... ORPHA:90650
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Cleft palate, Pancreatic hypoplasia, Biliary hyperplasia, Micropenis, Contractu... ORPHA:83617
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Hypodontia, Cleft palate, Vertebral fusion, Hemivertebrae, Mandibular prognathia, Abnormal form o... ORPHA:2916
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Flat Face-Microstomia-Ear Anomaly Syndrome
Malar flattening, Telecanthus, Camptodactyly of finger, Sparse and thin eyebrow, Underdeveloped n... ORPHA:1968
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Aplasia/Hypoplasia of the cereb... ORPHA:192
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Abnormal peripheral action potential amplitude, Abnormality of... ORPHA:90117
Tarp Syndrome
Cleft palate, Hypoplasia of the radius, Short palpebral fissure, Cerebellar hypoplasia, Anteverte... OMIM:311900
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Depressed nasal bridge, Ulnar deviation of finger, Short nose, Downslanted... ORPHA:1529
Nabais Sa-De Vries Syndrome, Type 2
Bilateral cleft lip and palate, Prominent nose, Micrognathia, High palate, Depressed nasal bridge... OMIM:618829
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Antley-Bixler Syndrome
Cleft palate, Short nose, Camptodactyly of finger, Femoral bowing, Anteverted nares, Choanal atre... ORPHA:83
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Total anomalous pulmonary venous return, Coarctation of aorta, Hyp... OMIM:613854
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Hemifacial Atrophy, Progressive
Horner syndrome, Delayed eruption of teeth, Kyphosis, Short mandibular rami, Tongue atrophy, Dent... OMIM:141300
Microtia
Abnormality of the pinna, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic h... ORPHA:83463
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Smooth philtrum, Cubitus valgus, Micropenis, Thin upper lip vermilion, Hypoplasia of the maxilla,... OMIM:300534
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Delayed proximal femoral epiphyseal ossification, Depressed nasal bridge, Goiter,... ORPHA:90674
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Overriding aorta, Patent ductus arteriosus OMIM:601927
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Finger syndactyly, Protruding ear, Bilateral cl... ORPHA:3253
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Malar flattening, Short... ORPHA:3258
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Insulin-resistant diabetes mellitus, Hypoplasia of the tooth germ, Abnormality of the optic disc,... ORPHA:293967
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Stereotypy OMIM:616341
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Stereotypy OMIM:300495
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Kinetic tremor, Macrotia, Hearing impairment, Sensorineural hearing impairment,... OMIM:616817
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Low-set ears, Renal hypoplasia OMIM:617661
Hyperprolinemia, Type I
Prolinuria, Hydroxyprolinuria, Stereotypy, Hyperprolinemia, Ataxia, EEG abnormality, Hyperglycinuria OMIM:239500
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Upslanted palpebral fissure, Macrotia, Anal atresia, Hypoplasia of the max... ORPHA:93950
Pelvis-Shoulder Dysplasia
Bilateral external ear deformity, Cleft palate, Prominent protruding coccyx, Microglossia, Abnorm... ORPHA:2839
Split-Hand/Foot Malformation 3
Renal hypoplasia, Abnormality of the pinna OMIM:246560
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Anterior rib cupping, Abnormality of pelvic girdle bone morphology,... OMIM:102700
Emanuel Syndrome
Cleft palate, Broad jaw, Hooded eyelid, Delayed eruption of teeth, Hearing impairment, Patent duc... ORPHA:96170
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Micrognathia, High palate, Pectus excavatum, Ptosis, Hypoplasia of... ORPHA:1131
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Renal agenesis, Recurrent otitis media, Posteriorly rotated ear... OMIM:618494
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Treacher Collins Syndrome 3
Conductive hearing impairment, Micrognathia, Cleft palate, Malar flattening, Downslanted palpebra... OMIM:248390
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Hemivertebrae, Posterior rib fusion, Epicanthus, Posteriorly rotated ears, Pate... OMIM:608406
Axial Mesodermal Dysplasia Spectrum
Abnormal intestine morphology, Abnormality of the knee, Abnormal form of the vertebral bodies, Ab... ORPHA:1834
Smith-Magenis Syndrome
Cleft palate, Chronic otitis media, Abnormal form of the vertebral bodies, Short nose, Abnormal l... ORPHA:819
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Micrognathia, Cleft palate, Sparse eyelashes, Sparse and thin eyeb... OMIM:616367
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Ureteral atresia, Bilateral renal agenesis, Unilateral renal agenesis OMIM:618845
Fg Syndrome Type 1
Hypospadias, Pyloric stenosis, Abnormal sternum morphology, Broad toe, Malar flattening, Finger s... ORPHA:93932
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Smooth philtrum, Global brain atrophy, Overfolded helix, Hearing impairment, Bulbous nose, Broad ... ORPHA:481152
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Duodenal stenosis, Hydroureter, Short nose, Symphalangism affecting the phalanges o... ORPHA:2547
Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Chronic otitis media, Lymphadenopathy, Coombs-p... ORPHA:83471
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Hypospadias, Micrognathia, Relative macrocephaly, Narrow nose, Metaphyseal dysplasia, Long nose, ... OMIM:618336
Faciodigitogenital Syndrome, Autosomal Recessive
Short nose, Hearing impairment, Syndactyly, Camptodactyly, Anteverted nares, High palate, Vertebr... OMIM:227330
Microcephaly 20, Primary, Autosomal Recessive
Hyperechogenic kidneys, Renal hypoplasia, Optic nerve hypoplasia OMIM:617914
Asymmetric Short Stature Syndrome
Micrognathia, Convex nasal ridge, Fused cervical vertebrae, Dental crowding, Lumbar scoliosis OMIM:108450
Fraxe Intellectual Disability
Clumsiness, Stereotypical body rocking, Recurrent hand flapping, Prominent ear helix ORPHA:100973
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Schilbach-Rott Syndrome
Hypospadias, Prominent nose, Micrognathia, Long nose, Upslanted palpebral fissure, Epicanthus, Po... OMIM:164220
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Abnormal palate morphology, Optic atrophy, Convex nasal ridge, Pto... ORPHA:93262
Distal 17P13.1 Microdeletion Syndrome
High palate, Unilateral polymicrogyria, Hypoplasia of the zygomatic bone, Generalized joint laxit... ORPHA:319171
Smith-Magenis syndrome
Stereotypy DECIPHER:8
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Renal insufficiency OMIM:618681
Myofibrillar Myopathy 11
Z-band streaming, Coarctation of aorta, Generalized amyotrophy, Shoulder girdle muscle atrophy, E... OMIM:619178
Cleft Velum
Conductive hearing impairment, Cleft soft palate, Velopharyngeal insufficiency, Recurrent otitis ... ORPHA:99772
Aicardi Syndrome
Dilated third ventricle, Cleft palate, Proximal placement of thumb, Polymicrogyria, Block vertebr... OMIM:304050
Distal Xq28 Microduplication Syndrome
Thick lower lip vermilion, Metatarsus adductus, High palate, Short lingual frenulum, Broad nasal ... ORPHA:293939
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cleft palate, Hip contracture, Hearing impairment, Camptodactyly, Elbow flexion contracture, Vert... OMIM:178110
1P36 Deletion Syndrome
Hypospadias, Pyloric stenosis, Abnormal intestine morphology, Patent ductus arteriosus, Foot poly... ORPHA:1606
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Optic atrophy, Dilatated internal auditory canal, Stapes ankylosis... ORPHA:1435
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Chorea, Paroxysmal dyskinesia, Stereotypy, Ataxia, EEG abnormality OMIM:619150
Cleft Palate-Large Ears-Small Head Syndrome
Hypospadias, Micrognathia, Cleft palate, Pectus excavatum, Ptosis, Ulnar deviation of finger, Mac... ORPHA:2013
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Abnormal number of incisors, Prominent nose, Ptosis, Patellar subluxation, Osteoporosis, Epicanth... ORPHA:2958
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Cleft palate, Ptosis, Wide nose, Short nose, Clinodactyly, Hearing impairment, Pro... OMIM:614261
Shprintzen-Goldberg Craniosynostosis Syndrome
Telecanthus, Joint contracture of the hand, Genu recurvatum, Camptodactyly, Anteverted nares, Hyp... OMIM:182212
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Micrognathia, Cleft palate, Low-set, posteriorly rotated ears, Mal... ORPHA:246
Koolen-De Vries Syndrome
Pyloric stenosis, Cleft palate, Anteverted ears, Overfolded helix, Patent ductus arteriosus, Slen... OMIM:610443
17Q24.2 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Upper limb undergrowth, Cubitus valgus, Progressive... ORPHA:529962
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Abnormality of the humerus, Hypoplasia of the ulna, Phocomelia, Aplasia/Hypo... ORPHA:3186
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Abnormality of the ureter, Convex nasal ridge, Low-set, posteriorly rotated ears, Do... ORPHA:1035
Hyperphosphatasia-Intellectual Disability Syndrome
Increased head circumference, Bulbous nose, Supernumerary nipple, Highly arched eyebrow, Microgna... ORPHA:247262
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Hypergonadotropic hypogonadism, Absence of secondary sex characteristi... ORPHA:163976
Megalocornea-Mental Retardation Syndrome
Micrognathia, High palate, Depressed nasal bridge, Long philtrum, Large fleshy ears, Epicanthus, ... OMIM:249310
Aarskog-Scott Syndrome
Cleft palate, Elevated circulating follicle stimulating hormone level, Short nose, Syndactyly, An... OMIM:305400
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Anteverted ears, Renal dysplasia, Ectopic kid... OMIM:617641
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Congenital hypoparathyroidism, Depressed nasal bridge, Convex nasal ridge, Long phi... OMIM:241410
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal aortic morphology, Aorto-ventricular tunnel, Abnormal coronary art... ORPHA:3400
Hypothyroidism Due To Tsh Receptor Mutations
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Delayed proximal ... ORPHA:90673
Brachycephaly, Trichomegaly, And Developmental Delay
Thick lower lip vermilion, Conductive hearing impairment, Highly arched eyebrow, High palate, Dep... OMIM:617412
Deafness And Myopia
Profound hearing impairment, Conductive hearing impairment, Hematuria, Proteinuria OMIM:221200
Diabetic Embryopathy
Ureteral duplication, Hydronephrosis, Cleft palate, Micrognathia, Abnormal sacrum morphology, Low... ORPHA:1926
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Peripheral axonal neuropathy, Absent brainstem auditory responses, Facial palsy, Sensorineural he... OMIM:617519
Codas Syndrome
Crumpled ear, Overfolded helix, Abnormal form of the vertebral bodies, Abnormal dental enamel mor... ORPHA:1458
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short nose, Malar flattening, Delayed skeletal maturation, Femoral bowing, Low-set ears, Small ep... OMIM:616723
Simpson-Golabi-Behmel Syndrome
Hypospadias, Cleft palate, Death in infancy, Short nose, Finger syndactyly, Splenomegaly, Camptod... ORPHA:373
15Q Overgrowth Syndrome
Smooth philtrum, Abnormal sternum morphology, Malar flattening, Telecanthus, Low-set ears, Micror... ORPHA:314585
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Jerky head movements, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spa... ORPHA:251282
Zimmermann-Laband Syndrome
Hallux valgus, Cleft palate, Large fleshy ears, Telecanthus, Splenomegaly, Anterior open-bite mal... ORPHA:3473
Cree Mental Retardation Syndrome
Hypospadias, Cutaneous finger syndactyly, Micrognathia, Pectus excavatum, Rocker bottom foot, Pto... OMIM:606851
Distal Monosomy 10P
Micrognathia, Cleft palate, Convex nasal ridge, Ectopic anus, Abnormality of the elbow, Polycysti... ORPHA:1580
Warburg-Cinotti Syndrome
Cholesteatoma, Symblepharon, Low-set ears, Atresia of the external auditory canal, Elbow flexion ... OMIM:618175
Thakker-Donnai Syndrome
Hydronephrosis, Hemivertebrae, Rectovaginal fistula, Upslanted palpebral fissure, Cervical C2/C3 ... ORPHA:1780
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements, Vertigo ORPHA:71518
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Genu varum, Convex nasal ridge, Mandibular prognathia, Hypoplasia of the zygomatic... ORPHA:1110
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Abnormality of the opt... ORPHA:363417
Aminopterin Syndrome Sine Aminopterin
Cleft palate, Oligodontia, Joint contracture of the hand, Syndactyly, Thoracic scoliosis, Low-set... OMIM:600325
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... OMIM:120330
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Distal Monosomy 7Q36
Optic atrophy, Micrognathia, Cleft palate, Pectus excavatum, Wide mouth, Upslanted palpebral fiss... ORPHA:1636
Myhre Syndrome
2-3 toe syndactyly, Cleft palate, Laryngotracheal stenosis, Malar flattening, Patent ductus arter... OMIM:139210
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Epiphyseal dysplasia, Anteverted nares, Abnormal pelvis bone morphology, Short phal... ORPHA:1427
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Chronic otitis media, Abnormality of the philtrum, Upslanted palpebral fissure, Abno... ORPHA:276422
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Macrotia, Hyperkinetic movements ORPHA:397933
Crouzon Disease
Conductive hearing impairment, Optic atrophy, Convex nasal ridge, Ptosis, Abnormal sacrum morphol... ORPHA:207
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Micrognathia, Cleft palate, Abnormality of lower lip, Abnormal hip bone morphology, Renal hypopla... ORPHA:1166
Stickler Syndrome, Type Ii
High, narrow palate, Micrognathia, Cleft palate, Depressed nasal bridge, Pierre-Robin sequence, L... OMIM:604841
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, Micropenis, Macrotia, Unilateral renal agenesis OMIM:618142
Contractures-Developmental Delay-Pierre Robin Syndrome
Hypospadias, Cleft palate, Overfolded helix, Abnormal hippocampus morphology, Radioulnar synostos... ORPHA:436003
Baker-Gordon Syndrome
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements, EEG abnormality OMIM:618218
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Finger syndactyly, Rudimentary fibula... ORPHA:958
Branchioskeletogenital Syndrome
Carious teeth, Telecanthus, Micropenis, Upper limb peromelia, Amelia involving the lower limbs, A... ORPHA:1299
Intellectual Developmental Disorder, Autosomal Recessive 39
Macrotia, Anteverted ears, Stereotypy OMIM:615541
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Absent lacrimal punctum, Long philtrum, Ptosis, Abnormality of the pinna, ... ORPHA:228396
Isotretinoin Syndrome
Micrognathia, Cleft palate, Depressed nasal bridge, Abnormality of the outer ear, Sacral dimple, ... ORPHA:2305
Jeavons Syndrome
EEG with focal epileptiform discharges, Limb myoclonus, Interictal epileptiform activity, Continu... ORPHA:139431
Treacher Collins Syndrome 2
Conductive hearing impairment, Micrognathia, Cleft palate, Downslanted palpebral fissures, Choana... OMIM:613717
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Malar flattening, Telecanthus, Hearing impairment, Synostosis of joints,... ORPHA:2496
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Underfolded helix, Genu varum, Upper limb undergrowth, Metaphyseal irregularit... ORPHA:93315
Intellectual Developmental Disorder, Autosomal Dominant 1
Short nose, Bulbous nose, Thin upper lip vermilion, Abnormality of lower lip, Low-set ears, Protr... OMIM:156200
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular Schwannoma OMIM:603641
Pycnodysostosis
Carious teeth, Decreased serum insulin-like growth factor 1, Obtuse angle of mandible, Hepatosple... ORPHA:763
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Total anomalou... OMIM:616749
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Pectus excavatum, High palate, Downslanted palpebral fissures, Bifid uvula, Low-set ears, Patent ... OMIM:300472
Dyssegmental Dysplasia, Silverman-Handmaker Type
Thoracic hypoplasia, Micrognathia, Bowing of the long bones, Neonatal death, Malar flattening, Po... OMIM:224410
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Malar flattening, Curly eyelashes, Brachydactyly, Short toe, Anterior scalloping ... OMIM:611717
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Long eyelashes in irregular rows, Cleft palate, Death in infancy, Hip contr... ORPHA:800
Cerebrofacioarticular Syndrome
Hypospadias, Bilateral choanal atresia/stenosis, Syndactyly, Camptodactyly, Hypoplasia of the max... ORPHA:314679
Truncus Arteriosus
Interrupted aortic arch, Truncus arteriosus, Anomalous origin of the left common carotid artery f... ORPHA:3384
Mosaic Trisomy 8
Cleft palate, Hearing impairment, Camptodactyly of finger, Anteverted nares, Protruding ear, Vert... ORPHA:96061
Igg4-Related Aortitis
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Thoracic ao... ORPHA:449400
Orofaciodigital Syndrome Xvii
Low-set ears, Micropenis, Renal hypoplasia, Hearing impairment OMIM:617926
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Hamartoma of the orbital region, Wide nose, Abnormality of cartilage of e... ORPHA:2399
Cerebrocostomandibular Syndrome
Malar flattening, Patent ductus arteriosus, 11 pairs of ribs, Rib gap, Short humerus, Low-set ear... OMIM:117650
Holoprosencephaly
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia ... ORPHA:2162
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Congenital Disorder Of Glycosylation, Type Id
Optic atrophy, High palate, Villous atrophy, Depressed nasal bridge, Adducted thumb, Long fingers... OMIM:601110
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Short metatarsal, Cubitus valgus, Malar flattening, Short nose, Absent frontal sin... OMIM:211910
Multiple Pterygium Syndrome, X-Linked