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Gene: Eya1 MGI:109344

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Gene Summary

Name:
EYA transcriptional coactivator and phosphatase 1
Synonyms:
bor

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 1.87×10-33

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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

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left eye

16 Images

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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
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, 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, Aplasia/Hypoplasia of the earlobes,... ORPHA:3232
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Deafness-Oligodontia Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo ORPHA:3230
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of t... OMIM:128980
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... ORPHA:705
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Epicanthus, Micrognathia, Absent tr... ORPHA:79113
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Femoral-Facial Syndrome
Micrognathia, Long penis, Short femur, Abnormal rib morphology, Cleft palate, Orofacial cleft, Hi... ORPHA:1988
Monosomy 9P
Abnormal antihelix morphology, Epicanthus, Micrognathia, Synophrys, Short neck, Abnormal rib morp... ORPHA:261112
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment, Optic atrophy OMIM:258700
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
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Convex nasal ridge, Kyphosis, Micrognathia, Fused cervical vertebrae, Malar promin... ORPHA:2522
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Epicanthus, Blepharophimos... ORPHA:3236
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Mandibular aplasia, Microtia, third degree, Micrognathia, Bifid uvula, B... ORPHA:2554
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Conductive hearing impairment, Wide nasal bridge, Micrognathia, Butter... OMIM:611209
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Flared lower limb metaphysis, Downslanted palpebral fissures, Macrotia, Patent duct... OMIM:616462
Acrootoocular Syndrome
Conductive hearing impairment, Delayed eruption of teeth, Grayish enamel, Micrognathia, Epicanthu... ORPHA:2980
Treacher-Collins Syndrome
Conductive hearing impairment, Hypoplasia of the thymus, Blepharospasm, Wide nasal bridge, Microg... ORPHA:861
Nager Syndrome
Non-midline cleft lip, Micrognathia, Phocomelia, Cleft palate, Hearing impairment, Atresia of the... ORPHA:245
Hypertelorism, Microtia, Facial Clefting Syndrome
2-3 toe syndactyly, Cleft upper lip, Conductive hearing impairment, Short 5th finger, Microtia, M... OMIM:239800
Van Maldergem Syndrome 2
Hip subluxation, Irregular dentition, Conductive hearing impairment, Short 4th metacarpal, Wide n... OMIM:615546
Schwannomatosis 1
Peripheral schwannoma, Vestibular schwannoma OMIM:162091
Treacher Collins Syndrome 2
Retrognathia, Fusion of middle ear ossicles, Choanal stenosis, Conductive hearing impairment, Dow... OMIM:613717
Verloove Vanhorick-Brubakk Syndrome
Non-midline cleft lip, Finger syndactyly, Microtia, Micrognathia, Abnormal metacarpal morphology,... ORPHA:3429
Oculoauriculovertebral Spectrum With Radial Defects
Triphalangeal thumb, Vesicoureteral reflux, Non-midline cleft lip, Conductive hearing impairment,... ORPHA:2549
Van Maldergem Syndrome 1
Irregular dentition, Conductive hearing impairment, Short 4th metacarpal, Wide nasal bridge, Epic... OMIM:601390
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Micrognathia, Hip dislocation, Dislocated radial head, Narrow grea... OMIM:602471
Braddock-Carey Syndrome 2
Retrognathia, Downslanted palpebral fissures, Pierre-Robin sequence, Wide mouth, Clinodactyly, Th... OMIM:619981
Johnson Neuroectodermal Syndrome
Downslanted palpebral fissures, Conductive hearing impairment, Preaxial hand polydactyly, Hypogon... ORPHA:2316
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... ORPHA:90646
Branchiootorenal Syndrome 1
Conductive hearing impairment, Hypoplasia of the cochlea, Renal dysplasia, Microdontia, Bifid uvu... OMIM:113650
Johnson Neuroectodermal Syndrome
Retrognathia, Patent ductus arteriosus, Choanal stenosis, Conductive hearing impairment, Microtia... OMIM:147770
Bor Syndrome
Retrognathia, Vesicoureteral reflux, Hydronephrosis, Multicystic kidney dysplasia, Renal insuffic... ORPHA:107
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Underdeveloped nasal alae, Flexion contracture, High palate, Long philtr... OMIM:616549
Pendred Syndrome
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:274600
Monosomy 22
Epicanthus, Synophrys, Prominent nasolabial fold, Hepatosplenomegaly, Short neck, Clubbing, Hypoc... ORPHA:96123
Meier-Gorlin Syndrome 1
Flexion contracture, Coxa valga, Micrognathia, Osteochondritis dissecans, Microdontia, Camptodact... OMIM:224690
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Lateral Meningocele Syndrome
Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Epicanthus, M... ORPHA:2789
Chromosome 18Q Deletion Syndrome
Conductive hearing impairment, Optic atrophy, Epicanthus, Toe syndactyly, Bifid uvula, Overlappin... OMIM:601808
Branchiooculofacial Syndrome
Conductive hearing impairment, Micrognathia, Elbow flexion contracture, Supernumerary nipple, Sho... OMIM:113620
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle... OMIM:221300
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Abnormal antihelix morphology, Camptodactyly of finger, Hypothyroidism, Abnormal nasolacrimal sys... ORPHA:3047
Congenital Heart Defects, Multiple Types, 7
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Right aortic arch, Aortopulmon... OMIM:618780
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Vertebral clefting, 2-3 toe syndactyly, Stapes ankylosis, Wide nasal bridge, Synophrys, Smooth ph... OMIM:614701
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hearing impairment, Unilateral renal agenesis OMIM:235740
Otofaciocervical Syndrome 1
Cupped ear, Conductive hearing impairment, Mixed hearing impairment, Hypoplasia of the cochlea OMIM:166780
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Macrotia, Mandibular prognathia, Tapered finger, Wide nasal bridge, Abnormality of the kidney, Sh... ORPHA:521445
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Pseudoepiphyses, Wide nasal bridge, Epicanthus, Delayed skeletal m... OMIM:157800
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Downslanted palpebral fissures, Conductive hearing impairment, Anotia, Joint... OMIM:608257
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, 2-3 toe syndactyly, Conductive hearing impairment, Wide nasal bridge, Selective to... OMIM:106260
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Underdeveloped nasal alae, Aplasia of the inner ear, Downslanted palpebral fissure... ORPHA:90024
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Non-midline cleft lip, Abnormality of the philtrum, Downslanted palpebral fissures, Microtia, Ren... ORPHA:1770
Mandibulofacial Dysostosis, Guion-Almeida Type
Conductive hearing impairment, Epicanthus, Micrognathia, Slender finger, Cleft palate, Telecanthu... OMIM:610536
Pallister-Hall Syndrome
Precocious puberty, Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Decreased circulating ... OMIM:146510
Holoprosencephaly-Postaxial Polydactyly Syndrome
Micrognathia, Thyroid hypoplasia, Postaxial hand polydactyly, Cleft palate, Orofacial cleft, Hypo... ORPHA:2166
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Flexion contracture, Vertebral hypoplasia, Micrognathia, Epiphyseal stippling, Thyroid hypoplasia... OMIM:308050
Mosaic Trisomy 14
Camptodactyly of finger, High palate, Ectopic anus, Microtia, Wide mouth, Micrognathia, Wide nasa... ORPHA:1703
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Anteverted ears, Profound sensorineural hearing... OMIM:610706
Cooper-Jabs Syndrome
Camptodactyly of finger, Reduced bone mineral density, Conductive hearing impairment, Missing rib... ORPHA:1488
Hemifacial Microsomia With Radial Defects
Triphalangeal thumb, Non-midline cleft lip, Conductive hearing impairment, Complete duplication o... OMIM:141400
Otofaciocervical Syndrome
Abnormal antihelix morphology, Macrotia, Conductive hearing impairment, High palate, Renal hypopl... ORPHA:2792
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid... ORPHA:3216
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Conductive hearing impairment, Flexion contracture, Multiple joint contractures, E... OMIM:265000
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Anotia, Microtia, Micrognathia, Lymphopenia, Aplasia/Hypoplasia of the ... ORPHA:2306
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Epicanthus, Short neck, Hypoparathyroidism, Depres... OMIM:618223
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Pectus excavatum, ... OMIM:268310
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Submucous cleft hard pa... OMIM:609166
Pallister-Hall Syndrome
Precocious puberty, Gonadotropin deficiency, Short 4th metacarpal, Renal dysplasia, Toe syndactyl... ORPHA:672
Mycophenolate Mofetil Embryopathy
Anotia, Microtia, Foot polydactyly, Micrognathia, Bifid thoracic vertebrae, Bifid nose, Ectopic k... ORPHA:268249
Warsaw Breakage Syndrome
Optic disc coloboma, Cupped ear, Hearing impairment, Hypoplasia of the cochlea OMIM:613398
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Downslanted palpebral fissures, Conductive hearing impairment, Microtia, Micrognathia, Persistenc... OMIM:300946
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... OMIM:303110
Acrocraniofacial Dysostosis
Conductive hearing impairment, Tapered finger, Coxa valga, Abnormality of the middle ear ossicles... ORPHA:949
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Irr... OMIM:601382
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Epicanthus, Micrognathia, Synophrys, Recurrent sinusitis, Supernumerary nipple... OMIM:213980
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Aortic arch aneurysm, Abnormal aortic arch morphology ORPHA:1455
Neurofaciodigitorenal Syndrome
Triphalangeal thumb, Abnormality of the philtrum, Downslanted palpebral fissures, Mandibular prog... ORPHA:2673
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Wide nasal bridge, Delayed erupti... OMIM:305620
Lambotte Syndrome
Retrognathia, Macrotia, Convex nasal ridge, Preaxial foot polydactyly, Narrow mouth, Microcephaly... OMIM:245552
Microphthalmia With Limb Anomalies
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos... ORPHA:1106
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, Conductive hearing impairment, High palate, Wide nasal bridge, Microti... OMIM:248910
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Conductive hearing impairment, Epicanthus, Micrognathia, Pectus excavatu... ORPHA:2990
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Isolated Klippel-Feil Syndrome
Ectopic anus, Renal hypoplasia/aplasia, Spina bifida, Anal atresia, Abnormal shoulder morphology,... ORPHA:2345
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Conductive hearing impairment, Hallux valgus, Toe syndactyly, Micrognathia, Hip dis... OMIM:154400
Shashi-Pena Syndrome
Epicanthus, Synophrys, Cupped ear, Posteriorly rotated ears, Accelerated skeletal maturation, Pto... OMIM:617190
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Branchiootic Syndrome
Abnormal nasolacrimal system morphology, Conductive hearing impairment, Sensorineural hearing imp... ORPHA:52429
Fanconi Anemia, Complementation Group L
Absent thumb, Wide nasal bridge, Micrognathia, Short neck, Bone marrow hypocellularity, Depressed... OMIM:614083
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Ectopic anus, Wide nasal bridge, Toe syndactyly, Micrognat... ORPHA:1507
Intellectual Developmental Disorder, Autosomal Dominant 52
Hypothyroidism, Convex nasal ridge, Synophrys, Smooth philtrum, Scapular winging, Lumbar hyperlor... OMIM:617796
Vacterl With Hydrocephalus
Retrognathia, Microtia, third degree, Anotia, Esophageal atresia, Renal hypoplasia/aplasia, Micro... ORPHA:3412
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Epicanthus, Bifid uvula, Cupped ear, Hearing impairment, Short palpebral fissure,... OMIM:617159
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Meningocele, Spina bifida occulta, Abnormality of the ureter, Short neck... ORPHA:2311
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Crouzon Syndrome
Conjunctivitis, Sagittal craniosynostosis, Conductive hearing impairment, Mandibular prognathia, ... OMIM:123500
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Hallux valgus, Epicanthus, Toe syndactyly, Synophrys, Pectus excavatum, ... ORPHA:1327
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Crossed fused renal ectopia, Microtia, Bifid nose, Median cleft li... ORPHA:2213
Schinzel-Giedion Syndrome
Central hypothyroidism, Infantile sensorineural hearing impairment, Cerebral cortical atrophy, De... ORPHA:798
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Hallux valgus, Micrognathia, Hip dislocation, Short neck, Knee dislocation,... OMIM:618000
Atelosteogenesis, Type I
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Elbow dislocation... OMIM:108720
Kbg Syndrome
Bilateral conductive hearing impairment, Synophrys, Cervical ribs, Short neck, Delayed skeletal m... ORPHA:2332
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Conductive hearing impairment, Hydronephrosis ORPHA:2669
Fraser Syndrome 1
Conductive hearing impairment, Cryptophthalmos, Abnormality of the anus, Midline nasal groove, Wi... OMIM:219000
Thrombocytopenia-Absent Radius Syndrome
Coxa valga, Patellar dislocation, Micrognathia, Hip dislocation, Cervical ribs, Phocomelia, Cleft... ORPHA:3320
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Smith-Magenis Syndrome
Mandibular prognathia, Everted upper lip vermilion, Wide nasal bridge, Short palm, Synophrys, Vel... OMIM:182290
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... OMIM:300614
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection OMIM:613780
Aarskog-Scott Syndrome
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Epicanthus, Pectus excavat... ORPHA:915
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Conductive hearing impairment, Sensorineural hearing impairment, Fused cervical ... OMIM:214300
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Abnormality of the auditory canal, Neuroendocrine neoplasm, Car... ORPHA:100084
Deafness, Autosomal Dominant 23
Vesicoureteral reflux, Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Micrognathia, Short palm, Blepharophimosis, Short nose, Cryptorchidism, Malar fla... ORPHA:171839
Koolen-De Vries Syndrome
Hypothyroidism, Wide nasal bridge, Epicanthus, Microdontia, Hip dislocation, Pectus excavatum, Ev... ORPHA:96169
Renal Coloboma Syndrome
Optic nerve dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Rena... ORPHA:1475
Craniodiaphyseal Dysplasia
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy ORPHA:1513
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Wide nose, Esophageal atresia, Fused cervical vertebrae, Renal agenesis, Butterfly ... OMIM:619227
Apert Syndrome
Conductive hearing impairment, Convex nasal ridge, Ectopic anus, Delayed eruption of teeth, Optic... ORPHA:87
Kniest Dysplasia
Dumbbell-shaped long bone, Keratan sulfate excretion in urine, Short neck, Abnormal cartilage col... ORPHA:485
Usher Syndrome Type 3
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231183
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Oligodontia of primary teeth, Abnormality of the ankle, ... ORPHA:2010
Craniofacial Microsomia
Conductive hearing impairment, Vertebral hypoplasia, Micrognathia, Cervical ribs, Cleft palate, A... OMIM:164210
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short palpebral fissure, Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of t... ORPHA:370010
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Bifid uvula, Overlapping toe, Limited elbow extension, Gingival overgrowth, Poster... OMIM:123790
Lamb-Shaffer Syndrome
Decreased head circumference, Optic atrophy, Epicanthus, Thoracic kyphosis, Micrognathia, Fused c... ORPHA:530983
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Hypothyroidism, Triphalangeal thumb, Downslanted palpebral fissures, Fin... ORPHA:2994
Cerebrocostomandibular Syndrome
Meningocele, Bell-shaped thorax, Conductive hearing impairment, Multicystic kidney dysplasia, Mye... ORPHA:1393
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Wide nasal bridge, Epicanthus, Micrognathia, Microdontia, Bifid uvula, Hip disloc... OMIM:613458
Bardet-Biedl Syndrome 19
Hypogonadism, Renal hypoplasia, Renal insufficiency, Hearing impairment, Hydronephrosis OMIM:615996
14Q22Q23 Microdeletion Syndrome
Short 4th metacarpal, Epicanthus, Toe syndactyly, Micrognathia, Delayed skeletal maturation, Shor... ORPHA:264200
Radial-Renal Syndrome
Ectopic kidney, External ear malformation, Unilateral renal agenesis OMIM:179280
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Conductive hearing impairmen... ORPHA:1826
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Renal duplication, Conductive hearing impairment, Anemia, Reticulocytop... OMIM:613309
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip subluxation, Medial flaring of the eyebrow, Tapered finger, Cleft soft palate, Ischemic strok... OMIM:619503
Zttk Syndrome
Flexion contracture, Optic atrophy, Wide nasal bridge, Epicanthus, Broad eyebrow, Bifid uvula, Ce... OMIM:617140
Aorta Coarctation
Patent ductus arteriosus, Interrupted aortic arch, Pseudocoarctation of the aorta, Coarctation of... ORPHA:1457
Diamond-Blackfan Anemia 11
Absent thumb, Abnormal eyelid morphology, Anemia, Neutropenia, Hypoplasia of the radius, Renal ag... OMIM:614900
Multiple Synostoses Syndrome 1
Thick upper lip vermilion, 2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, B... OMIM:186500
6Q16 Microdeletion Syndrome
Retrognathia, Tapered finger, Microtia, Micrognathia, Abnormal thorax morphology, Macrocephaly, A... ORPHA:171829
Oculoauriculofrontonasal Syndrome
Underdeveloped nasal alae, Wide nose, Conductive hearing impairment, Encephalocele, Microtia, Mic... ORPHA:398156
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis, Low-set ears, Microtia OMIM:617564
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Hearing abnormality, Abnormality of the knee, Deviation of finger, Depr... ORPHA:2412
Usher Syndrome Type 1
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology ORPHA:231169
Wolf-Hirschhorn Syndrome
Optic atrophy, Wide nasal bridge, Epicanthus, Micrognathia, Abnormal lip morphology, Abnormal tho... ORPHA:280
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis OMIM:184460
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Cleft palate, Anotia, Microtia OMIM:243440
Apert Syndrome
Delayed cranial suture closure, Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus,... OMIM:101200
Kbg Syndrome
Synophrys, Cervical ribs, Radial deviation of finger, Short neck, Delayed skeletal maturation, Ul... OMIM:148050
Doors Syndrome
Short 5th finger, Optic atrophy, Wide nasal bridge, Short lingual frenulum, Epicanthus, Adrenal h... ORPHA:79500
Aicardi Syndrome
Precocious puberty, Optic atrophy, Butterfly vertebrae, Cleft palate, Optic disc coloboma, Polymi... ORPHA:50
20P12.3 Microdeletion Syndrome
Downslanted palpebral fissures, Long philtrum, Wide nasal bridge, Microtia, Epicanthus, Macroceph... ORPHA:261295
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Camptodactyly of finger, Wide nasal bridge, Short neck, Sparse eye... ORPHA:178303
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Short 5th finger, Wide nasal bridge, Micrognathia, Abnormal optic disc morpho... ORPHA:508498
Catifa Syndrome
Mild microcephaly, Long philtrum, Delayed eruption of teeth, Microtia, Epicanthus, Camptodactyly,... OMIM:618761
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Short 5th finger, Epicanthus, Pyloric stenosis, Congenital hip dis... OMIM:133705
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Metatarsus valgus, Cleft upper lip, Downslanted palpebral fissures, Sens... ORPHA:261236
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
3Mc Syndrome 2
Wide nasal bridge, Hip dislocation, Depressed nasal tip, Cleft palate, Hearing impairment, Blepha... OMIM:265050
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch OMIM:231060
Marshall-Smith Syndrome
Irregular dentition, Bilateral conductive hearing impairment, Hallux valgus, Microdontia, Synophr... OMIM:602535
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Cerebral cortical atrophy, Tapered finger, Toe syndactyly, Overlapping toe, Short neck, Hearing i... ORPHA:505237
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Atresia of the external auditory canal, Conductive hearing impairment, Clinodactyly of the 5th fi... OMIM:221320
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Periventricular cysts, Tapered finger, Tapered toe, Hyperintensity of cerebral white matter on MR... ORPHA:544488
Frontonasal Dysplasia 1
Conductive hearing impairment, Cranium bifidum occultum, Hypoplastic frontal sinuses, Wide nasal ... OMIM:136760
Distal Monosomy 17Q
Patent ductus arteriosus, Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Deviation... ORPHA:1597
Congenital Arthrogryposis With Anterior Horn Cell Disease
Retrognathia, Downslanted palpebral fissures, High palate, Kyphosis, Micrognathia, Hip dysplasia,... OMIM:611890
Wilson-Turner Syndrome
Tapered finger, Small hand, Microtia, Micrognathia, Malar prominence, Thick eyebrow, Thin upper l... ORPHA:3459
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Levotransposition of the great arteries, Interrupted aortic arch, Coarc... ORPHA:860
Renpenning Syndrome
Epicanthus, Pectus excavatum, Broad columella, Abnormal rib morphology, Cleft palate, Round ear, ... ORPHA:3242
Fanconi Anemia, Complementation Group I
Vesicoureteral reflux, Hypothyroidism, Conductive hearing impairment, Decreased response to growt... OMIM:609053
Elsahy-Waters Syndrome
Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Synophrys, Bifid uvula, Pe... OMIM:211380
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Conductive hearing impairment, Sensorineural hearing impairment,... OMIM:118100
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Fetal Akinesia Deformation Sequence 4
Retrognathia, Rocker bottom foot, 11 pairs of ribs, Prenatal death, High palate, Kyphosis, Wide n... OMIM:618393
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the... OMIM:108760
Frontometaphyseal Dysplasia 2
Conductive hearing impairment, Wide nasal bridge, Bifid uvula, Camptodactyly, Elbow contracture, ... OMIM:617137
Zechi-Ceide Syndrome
Conductive hearing impairment, Wide nasal bridge, Thin vermilion border, Cleft palate, Short palp... ORPHA:217017
Cerebrofaciothoracic Dysplasia
Cerebral cortical atrophy, Epicanthus, Synophrys, Short neck, Cleft palate, Thick eyebrow, Short ... ORPHA:1394
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... OMIM:611584
Cornelia De Lange Syndrome
Conductive hearing impairment, Cerebral cortical atrophy, Delayed eruption of teeth, Toe syndacty... ORPHA:199
Robinow Syndrome
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Pos... ORPHA:97360
Coxoauricular Syndrome
Reduced bone mineral density, Microtia, Hip dislocation, Abnormal pelvic girdle bone morphology, ... ORPHA:1508
Fraser Syndrome
Conductive hearing impairment, Bifid tongue, Midline nasal groove, Ectopic anus, Wide nasal bridg... ORPHA:2052
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility, Miscarriage OMIM:619176
Mullegama-Klein-Martinez Syndrome
Polydactyly, Sensorineural hearing impairment, Long philtrum, Wide nasal bridge, Microtia, Promin... OMIM:301022
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Lateral Meningocele Syndrome
Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... OMIM:130720
Diastrophic Dysplasia
Camptodactyly of finger, Micrognathia, Increased bone mineral density, Elbow dislocation, Hypopla... ORPHA:628
Robinow Syndrome, Autosomal Dominant 2
Conductive hearing impairment, Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Ging... OMIM:616331
Diamond-Blackfan Anemia 7
Triphalangeal thumb, Vesicoureteral reflux, Patent ductus arteriosus, Increased mean corpuscular ... OMIM:612562
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Hearing impairment, Primary amenorrhea, Hypogonadotropic hypogonadism,... OMIM:244200
Holoprosencephaly 9
Prominent antihelix, Optic nerve hypoplasia, Postaxial hand polydactyly, Cleft palate, Bilateral ... OMIM:610829
Craniodiaphyseal Dysplasia, Autosomal Dominant
Choanal stenosis, Mandibular prognathia, Thickened ribs, Optic atrophy, Wide nasal bridge, Macroc... OMIM:122860
19P13.3 Microduplication Syndrome
Hip subluxation, Precocious puberty, Epicanthus, Micrognathia, Hip dislocation, Unilateral crypto... ORPHA:447980
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Arthrog... OMIM:243180
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Upslanted palpebral fissure, Widely-spaced incisors, Optic atrophy, Synophrys, Hypoplasia of the ... OMIM:618737
Carpenter Syndrome 1
Deviation of finger, Conductive hearing impairment, Precocious puberty, Lateral displacement of p... OMIM:201000
Lujan-Fryns Syndrome
Camptodactyly of finger, Macroorchidism, Aplasia/Hypoplasia of the corpus callosum, High palate, ... ORPHA:776
Holoprosencephaly 7
Wide nasal bridge, Synophrys, Median cleft lip, Hypoplastic nasal septum, Depressed nasal tip, Cl... OMIM:610828
Ohdo Syndrome
Wide nasal bridge, Epicanthus, Micrognathia, Smooth philtrum, Hearing impairment, Blepharophimosi... OMIM:249620
Barber-Say Syndrome
Telecanthus, Aplasia/Hypoplasia of the eyebrow, Wide mouth, Delayed eruption of teeth, Wide nasal... ORPHA:1231
Chromosome 22Q11.2 Duplication Syndrome
Downslanted palpebral fissures, High palate, Depressed nasal ridge, Epicanthus, Micrognathia, Vel... OMIM:608363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Renal dysplasia, Micrognathia, Meningoencephalocele, Optic nerve hypoplasia, Type ... OMIM:236670
Holoprosencephaly 2
Diabetes insipidus, Aplasia of the nasal bone, Cerebellar hypoplasia, Proboscis, Absent nasal sep... OMIM:157170
Tetraploidy
Convex nasal ridge, Radial club hand, Aplasia/Hypoplasia of the thymus, Micrognathia, Renal hypop... ORPHA:3305
Pfeiffer Syndrome Type 2
Toe syndactyly, Tracheomalacia, Short hallux, Cleft palate, Choanal atresia, Atresia of the exter... ORPHA:93259
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Delayed cranial suture closure, Thyroid hypoplasia, Optic nerve hypoplasia, Short neck, Decreased... ORPHA:226307
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Hypothyroidism, Conductive hearing impairment, Micrognathia, Synophrys, Subglott... ORPHA:444077
Femoral-Facial Syndrome
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Micrognathia, Aplasia/hypoplasia... OMIM:134780
Deafness, X-Linked 7
Telecanthus, Wide nasal bridge, Ptosis, Stenosis of the external auditory canal, Thick eyebrow, H... OMIM:301018
Chops Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Splenomegaly, Long philtrum, Thickened helices, ... OMIM:616368
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Convex nasal ridge, Finger syndactyly, Microtia, Craniosynostosis,... ORPHA:2145
Wolf-Hirschhorn Syndrome
Periventricular cysts, Conductive hearing impairment, Convex nasal ridge, Precocious puberty, Wid... OMIM:194190
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Hypothyroidism, Delayed closure of the anterior fontanelle, Conductive h... OMIM:607872
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Epicanthus, Toe syndactyly, Micrognathia, Abnormality of the ureter, Sho... ORPHA:3409
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
3-Hydroxyisobutyric Aciduria
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus... ORPHA:939
Ring Chromosome 8 Syndrome
Round ear, Epicanthus, Short nose, Abnormal palate morphology, Abnormality of the ureter, Antever... ORPHA:1450
Mosaic Trisomy 20
Retrognathia, Vertebral fusion, Upslanted palpebral fissure, Kyphosis, Craniofacial asymmetry, Na... ORPHA:1724
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Macrocephaly, Shortening of all phalanges ... OMIM:601356
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Wide mouth, Anotia, Microtia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Sparse eyebrow, Multicystic kidney dysplasia, High palate, Prominent nose, Tapere... OMIM:618829
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Thick upper lip vermilion, Enlarged thorax, Multiple rows of eyelashes, Wide nasal bridge, Pectus... ORPHA:163654
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Renal agenesis, Azoospermia, Unilateral renal agenesis, Ectopic ki... OMIM:601076
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Metatarsus valgus, Conductive hearing impairment, Toe syndactyly, ... ORPHA:3082
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... OMIM:613092
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Low-set ears, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Aredyld Syndrome
Upslanted palpebral fissure, Mandibular prognathia, Aplasia/Hypoplasia of the eyebrow, Abnormal t... ORPHA:1133
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral axonal ... OMIM:601596
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Delayed cranial suture closure, Conductive hearing impairment, Con... ORPHA:794
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Primary microcephaly, Prominent nasal tip, Prominent antihelix, Broad columell... ORPHA:293725
Craniometaphyseal Dysplasia
Abnormal cranial nerve morphology, Conductive hearing impairment, Sensorineural hearing impairmen... ORPHA:1522
Trisomy 8P
Conductive hearing impairment, Multiple joint contractures, Bifid uvula, Clinodactyly of the 5th ... ORPHA:264450
Distal Limb Deficiencies-Micrognathia Syndrome
Conductive hearing impairment, Microdontia, Abnormality of the wrist, Cleft palate, Abnormality o... ORPHA:1307
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, High palate, Tapered finger, Decreased testicular size, Macrocephaly, Cl... ORPHA:85279
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Cryptophthalmos, Wide mouth, Microtia, Toe sy... ORPHA:920
Sweeney-Cox Syndrome
Asplenia, Wide nasal bridge, Micrognathia, 2-4 finger syndactyly, Prominent metopic ridge, Uplift... OMIM:617746
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Cog1-Cdg
Coxa valga, Wide nasal bridge, Micrognathia, Butterfly vertebrae, Hepatosplenomegaly, Posterior r... ORPHA:263508
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Microdontia, Narrow pelvis bone, Delayed skeletal maturation, Limited elbow e... OMIM:210720
Craniosynostosis And Dental Anomalies
Short phalanx of finger, 2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Con... OMIM:614188
Thalidomide Embryopathy
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Radial club hand... ORPHA:3312
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Wide nasal bridge, Epicanthus, Micrognathia, Overlapping toe, Cleft vertebral arch, Cleft palate,... ORPHA:83617
Mandibulofacial Dysostosis With Alopecia
Lower eyelid coloboma, Conductive hearing impairment, Sparse eyelashes, Delayed eruption of prima... OMIM:616367
Trisomy 20P
Abnormal antihelix morphology, Camptodactyly of finger, Ectopic anus, Epicanthus, Micrognathia, M... ORPHA:261318
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Multicystic kidney dysplasia, Mi... ORPHA:261197
Orofaciodigital Syndrome Xix
Cleft soft palate, Wide nasal bridge, Epicanthus, Toe syndactyly, Microdontia, Additional crus of... OMIM:620107
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Epicanthus, Spina bifida occulta... OMIM:607323
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Abnormal number of incisors, Prominent nose, Coxa valga, Patellar subluxation, Epic... ORPHA:2958
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Vesicoureteral reflux, Sensorineural hearing impairment, Patellar hypoplasia, Long ... ORPHA:464288
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed cranial suture closure, Conductive hearing impairment, Wide nasal bridge, Delayed eruptio... ORPHA:2780
Aortic Aneurysm, Familial Thoracic 6
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... OMIM:611788
Acitretin/Etretinate Embryopathy
High palate, Hypoplasia of the thymus, Abnormality of the calcaneus, Microtia, Bilateral sensorin... ORPHA:40366
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Urinary incontinence, Adult onset sensorineural hearing ... ORPHA:268882
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C... ORPHA:2839
20Q11.2 Microduplication Syndrome
Wide nasal bridge, Epicanthus, Abnormal nasal bridge morphology, Abnormal shape of the palpebral ... ORPHA:363659
Hemifacial Atrophy, Progressive
Dental malocclusion, Horner syndrome, Kyphosis, Delayed eruption of teeth, Microtia, Tongue atrop... OMIM:141300
Tarp Syndrome
Optic atrophy, Wide nasal bridge, Micrognathia, Prominent antihelix, Pectus excavatum, Abnormal c... OMIM:311900
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Bresek Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Aganglionic megacolon, Optic n... ORPHA:85284
Acrocephalopolydactyly
Thoracic hypoplasia, Depressed nasal ridge, Microtia, Short long bone, Epicanthus, Short nose, He... ORPHA:221054
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Increased ... ORPHA:90652
Baller-Gerold Syndrome
Absent thumb, Conductive hearing impairment, Optic atrophy, Aplasia of metacarpal bones, Epicanth... OMIM:218600
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Trisomy 13
Abnormal antihelix morphology, Optic atrophy, Median cleft lip, Abnormality of the ureter, Abnorm... ORPHA:3378
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Wide nose, Downslanted palpebral fissures, Long philtrum, Microtia, Micrognathia, Synophrys, Clin... ORPHA:357175
Wildervanck Syndrome
Abnormality of the outer ear, Fused cervical vertebrae, Pseudopapilledema, Hearing impairment OMIM:314600
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Dental malocclusion, Conductive hearing impairment, High palate, Apla... OMIM:603457
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Joint dislocation, Cleft upper lip, Abno... OMIM:312150
Intellectual Developmental Disorder, Autosomal Recessive 35
Wide nose, Downslanted palpebral fissures, Long philtrum, Microtia, Micrognathia, Synophrys, Clin... OMIM:615162
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Global brain atrophy, Flexion contracture, Hyperintensity of cerebral white matter on MRI, Broad ... ORPHA:481152
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Hypergonadotropic hypogonadism, Elevated circulating creatinine co... OMIM:617872
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Patent ductus arterio... ORPHA:2547
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormality of somatosen... ORPHA:320401
Fg Syndrome Type 1
Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Small pituitary gland,... ORPHA:93932
Chromosome 16Q22 Deletion Syndrome
Wide nasal bridge, Epicanthus, Micrognathia, Broad hallux, Short neck, Prominent metopic ridge, P... OMIM:614541
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Thoracic hypoplasia, Cleft soft palate, Epicanthus, Micrognathia, ... OMIM:117650
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Microtia
Hypoplastic helices, Anotia, Microtia, Abnormal pinna morphology, Atresia of the external auditor... ORPHA:83463
X-Linked Intellectual Disability, Van Esch Type
Retrognathia, Microtia, Coronal craniosynostosis, Type II diabetes mellitus, Decreased testicular... ORPHA:163976
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Upslanted palpebral fissure, Short thorax, Wide nasal bridge, Vertebral segmentati... ORPHA:1797
Cohen Syndrome
Tapered finger, Optic atrophy, Micrognathia, Pectus excavatum, Tooth agenesis, Abnormal eyelash m... ORPHA:193
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Upslanted palpebral fissure, Microretrognathia, Hypospadias, Abnorma... ORPHA:276422
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Lower Limb Malformation-Hypospadias Syndrome
Sacral dimple, Macrotia, Hypospadias, Abnormality of the ureter, Abnormality of tibia morphology,... ORPHA:2487
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Non-midline cleft lip, Downslanted palpebral fissures, Conductive hearin... ORPHA:246
Schilbach-Rott Syndrome
Prominent nose, Microtia, Epicanthus, Micrognathia, Blepharophimosis, Bifid uvula, Submucous clef... OMIM:164220
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, High palate, Upper e... ORPHA:293939
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Global brain atrophy, Absent thumb, Patent ductus arteriosus after birth at term, Ischemic stroke... ORPHA:500150
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Micrognathia, Abnormality of the ureter, Abnormal intestine morphology... ORPHA:1834
Microcephaly-Capillary Malformation Syndrome
Wide nose, Vesicoureteral reflux, Optic atrophy, Clinodactyly, Short nose, Hypoplasia of the maxi... OMIM:614261
Ohdo Syndrome, X-Linked
Wide nasal bridge, Epicanthus, Micrognathia, Microdontia, Overlapping toe, Smooth philtrum, Heari... OMIM:300895
Treacher Collins Syndrome 1
Downslanted palpebral fissures, Lacrimal duct stenosis, Conductive hearing impairment, Cleft soft... OMIM:154500
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Coarctation of aorta, Total anomalous... OMIM:613854
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Cousin Syndrome
Wrist flexion contracture, Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Humeroradia... OMIM:260660
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Overriding aorta, Vascular ring OMIM:601927
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Abnormal peripheral action potential amplitude, Abnormality of... ORPHA:90117
Intellectual Developmental Disorder, Autosomal Dominant 1
Hypoplasia of the frontal lobes, Micrognathia, Microdontia, Everted lower lip vermilion, Cupped e... OMIM:156200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Skeletal muscle atrophy, Vascular ring OMIM:603387
Kapur-Toriello Syndrome
Atresia of the external auditory canal, Patent ductus arteriosus, Hypoplasia of penis, Polymicrog... ORPHA:2328
Coffin-Lowry Syndrome
Cerebral cortical atrophy, Tapered finger, Optic atrophy, Delayed eruption of teeth, Epicanthus, ... ORPHA:192
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Clinodactyly of the 5th finger, Hearing impairment, Atresia of the external auditory canal ORPHA:3023
Martsolf Syndrome 1
Short phalanx of finger, Finger joint hypermobility, Epicanthus, Micrognathia, Tracheomalacia, Me... OMIM:212720
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Synophrys, Periventricular leukomalacia, Broad eyebrow, Narrow palpebral fissu... OMIM:618302
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the philtrum, Abnormality of the elbow, Finger syndactyly, Epicanthus, Synophrys, ... ORPHA:3268
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Wide nasal bridge, Increased bone mineral density, Elbow dislocation... ORPHA:90650
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... OMIM:611555
Pde4D Haploinsufficiency Syndrome
Short phalanx of finger, Micrognathia, Prominent nasal tip, Caudal interpedicular narrowing, Broa... ORPHA:439822
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Vertebral fusion, Mandibular prognathia, Patellar dislocation, Apl... ORPHA:2916
Cenani-Lenz Syndrome
Hypothyroidism, Convex nasal ridge, Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal ... ORPHA:3258
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased response to growth hormone stimulation test, Microtia, Micrognathia, Bilateral cryptorc... OMIM:618336
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Hydronephrosis, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:1926
Burn-Mckeown Syndrome
Conductive hearing impairment, Unilateral renal agenesis, Renal hypoplasia, Hearing impairment, P... OMIM:608572
Smith-Magenis Syndrome
Hypothyroidism, Conductive hearing impairment, Precocious puberty, Wide nasal bridge, Toe syndact... ORPHA:819
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Downslanted palpebral fissures, Pectus carinatum, Hypoplasia of penis, Craniofacia... ORPHA:3068
Auriculocondylar Syndrome
Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Glossoptosis, Hearing impairment, Cle... ORPHA:137888
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Beta-Mercaptolactate Cysteine Disulfiduria
Downslanted palpebral fissures, Genu valgum, Convex nasal ridge, High palate, Arachnodactyly, Abn... ORPHA:1035
Even-Plus Syndrome
Vertebral clefting, Vesicoureteral reflux, High palate, Depressed nasal ridge, Microtia, Recurren... OMIM:616854
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal cyst, Stillbirth, Renal hypoplasia, Low-set ears, Neona... OMIM:236500
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Conductive hearing impairment, Sensorineural hearing impairment, Hallux valgu... OMIM:135100
Oocyte/Zygote/Embryo Maturation Arrest 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Koolen-De Vries Syndrome
Epicanthus, Hip dislocation, Pectus excavatum, Everted lower lip vermilion, Anteverted ears, Slen... OMIM:610443
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed cranial suture closure, Macroorchidism, Increased circulating prolactin concentration, In... ORPHA:90674
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, High palate, Prominent nose, Wide nasal bridge, Macrocephaly, Bulbous nose... ORPHA:2180
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Ureteral atresia, Unilateral renal agenesis, Bilateral renal agenesis OMIM:618845
Shprintzen-Goldberg Craniosynostosis Syndrome
Conductive hearing impairment, Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radia... OMIM:182212
Thymic Aplasia
Hypothyroidism, T lymphocytopenia, Recurrent urinary tract infections, Malabsorption, Coombs-posi... ORPHA:83471
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hypogonadism, Unilateral renal agenesis, Abnormal repetitive m... ORPHA:3306
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Wide nasal bridge, Micrognathia, Camptodactyly, Broad hallux, Absent uvula, Gi... OMIM:618529
Meier-Gorlin Syndrome 5
Small earlobe, Patellar aplasia, Long philtrum, Microtia, Micrognathia, Slender long bone, Clinod... OMIM:613805
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Joint dislocation, Flexion contracture, ... OMIM:253290
Fibromuscular Dysplasia, Arterial
Aortic dissection, Arterial fibromuscular dysplasia, Stroke OMIM:135580
Split-Hand/Foot Malformation 3
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split han... OMIM:246560
Carey-Fineman-Ziter Syndrome 2
Underdeveloped nasal alae, Long philtrum, Abnormal nasal septum morphology, Hooded upper eyelid, ... OMIM:619941
Au-Kline Syndrome
Lagophthalmos, Bifid tongue, Coxa valga, Bifid uvula, Supernumerary nipple, Pectus excavatum, Ove... OMIM:616580
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... ORPHA:2972
X-Linked Intellectual Disability, Sutherland-Haan Type
Macrotia, Mandibular prognathia, Decreased testicular size, Anal atresia, Hypoplasia of the maxil... ORPHA:93950
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Micrognathia, Microdontia, Abnormal optic disc morphology, Tibial deviation of the... ORPHA:363417
Faciodigitogenital Syndrome, Autosomal Recessive
Camptodactyly, Metatarsus adductus, Pectus excavatum, Hearing impairment, Posteriorly rotated ear... OMIM:227330
Nablus Mask-Like Facial Syndrome
Tapered finger, Wide nasal bridge, Camptodactyly, Everted lower lip vermilion, Short hallux, Shor... OMIM:608156
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Contractures-Developmental Delay-Pierre Robin Syndrome
Wrist flexion contracture, Micrognathia, Lop ear, Metatarsus adductus, Overlapping toe, Cleft pal... ORPHA:436003
Warburg-Cinotti Syndrome
Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Conductive hearing im... OMIM:618175
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
You-Hoover-Fong Syndrome
Double aortic arch, Vascular ring, Coarctation of aorta OMIM:616954
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Anterior rib cupping, Horizontal inferior border of scapula, B lymphocytopenia, Growth arrest lin... OMIM:102700
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Aplasia/Hypoplasia involving the nose, S... ORPHA:1529
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary artery morphology, Aorto-vent... ORPHA:3400
Brachycephaly, Trichomegaly, And Developmental Delay
Conductive hearing impairment, High palate, Epicanthus, Thick lower lip vermilion, Synophrys, Bif... OMIM:617412
1P36 Deletion Syndrome
Delayed cranial suture closure, Camptodactyly of finger, Hypothyroidism, Conductive hearing impai... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Flexion contracture, Micrognathia, Pectus excavatum, Smooth philtrum, Furrowed tongue, Thick eyeb... OMIM:300534
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Oral ulcer, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell re... OMIM:602450
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Asymmetric Short Stature Syndrome
Convex nasal ridge, Lumbar scoliosis, Micrognathia, Fused cervical vertebrae, Dental crowding OMIM:108450
Andersen Cardiodysrhythmic Periodic Paralysis
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Delayed skele... OMIM:170390
Aarskog-Scott Syndrome
Short 5th finger, Wide nasal bridge, Pectus excavatum, Radial deviation of finger, Short neck, Cu... OMIM:305400
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Seckel Syndrome 5
Convex nasal ridge, Selective tooth agenesis, Micrognathia, Delayed skeletal maturation, Cleft pa... OMIM:613823
Cleidocranial Dysplasia
Tapered finger, Delayed eruption of teeth, Micrognathia, Hypoplastic inferior ilia, Spina bifida ... ORPHA:1452
Isotretinoin Syndrome
Sacral dimple, Microtia, Micrognathia, Biparietal narrowing, Abnormality of the outer ear, Spina ... ORPHA:2305
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Macrotia, High palate, Tapered finger, Wide nasal bridge, Flexion contracture... OMIM:218000
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Sensorineural hearing impairment, Craniofacial hyperostosis, Torus palatin... ORPHA:2790
Cerebrofacioarticular Syndrome
Irregular dentition, Conductive hearing impairment, Bilateral choanal atresia/stenosis, Wide nasa... ORPHA:314679
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Hearing im... OMIM:178110
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Macrotia, Unilateral renal agenesis OMIM:618504
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Tapered finger, Coxa valga, Epicanthus, Radial deviation of finger, Posteriorly rotated ears, Red... OMIM:301040
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Distal Tetrasomy 15Q
Flexion contracture, Micrognathia, Camptodactyly, Cupped ear, Telecanthus, Nephroblastoma, Polycy... ORPHA:314588
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Interrupted... OMIM:618300
Malan Syndrome
Retrognathia, Downslanted palpebral fissures, Mandibular prognathia, Coxa valga, Advanced eruptio... OMIM:614753
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Wide nasal bridge, Toe syndactyly, Micrognathia, Synophrys, Abnormality of the ureter, Bilateral ... ORPHA:3253
Bardet-Biedl Syndrome 16
Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Recurrent otitis m... OMIM:615993
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Micrognathia, Abnormality of the wrist, Irregular acetabular roof, Abnormal me... ORPHA:93316
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Underdeveloped nasal alae, Congenital pyloric atresia, Flexion contracture, Microtia, Macrocephal... OMIM:612138
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Conductive hearing impairment, Convex nasal ridge, Optic at... ORPHA:93262
Aicardi Syndrome
Precocious puberty, Optic atrophy, Butterfly vertebrae, Cleft palate, Optic disc coloboma, Polymi... OMIM:304050
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Downslanted palpebral fissures, Tapered finger, Long philtrum, Small hand, Microtia, Macrocephaly... OMIM:618089
Toluene Embryopathy
Short palpebral fissure, Tapered finger, Epicanthus, Micrognathia, Biparietal narrowing, Short no... ORPHA:1920
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Epicanthus, Bifid uvula, Short neck, Smooth philtrum, Arthrogryposis multiplex congenita, Rocker ... OMIM:618622
Aminopterin Syndrome Sine Aminopterin
Micrognathia, Megalencephaly, Cleft palate, Posteriorly rotated ears, Microcephaly, Cryptorchidis... OMIM:600325
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Pu... OMIM:616749
Distal Monosomy 10P
Hearing abnormality, Non-midline cleft lip, Macrotia, Convex nasal ridge, Abnormality of the elbo... ORPHA:1580
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Delayed closure of the anterior fontanelle, Conductive hearing impair... OMIM:300373
Oocyte/Zygote/Embryo Maturation Arrest 4
Female infertility, Oocyte arrest at metaphase I OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Flexion contracture, Micrognathia, Abnormally folded helix, Pectus excavatum, Hyperextensibility ... OMIM:309520
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Downslanted palpebral fissures, Conductive hearing impairment, Mic... ORPHA:3145
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, High palate, Microtia, Cervical ribs, Pectus excavatum, Ptosis, Short neck, Micr... OMIM:609654
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Optic nerve dysplasia, Upslanted palpebral fissure, Hypoplasia of the thymus, Join... OMIM:214110
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Wide nasal bridge, Epicanthus, Toe syndactyly, Supernumerary nipple, Pec... ORPHA:373
Parenti-Mignot Neurodevelopmental Syndrome
Microtia, Prominent nasal bridge, Micrognathia, Prominent nasal tip, Epicanthus, Short philtrum, ... OMIM:619873
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Vesicoureteral reflux, Epiblepharon, Microcephaly, Cryptorchidism, Bulbous nose, Downslanted palp... OMIM:619103
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Codas Syndrome
Delayed eruption of teeth, Epicanthus, Delayed skeletal maturation, Abnormal form of the vertebra... ORPHA:1458
Distal Monosomy 7Q36
Non-midline cleft lip, Symphalangism affecting the phalanges of the hand, Macrotia, Wide mouth, O... ORPHA:1636
Kagami-Ogata Syndrome
Retrognathia, Short palpebral fissure, Patent ductus arteriosus, Flexion contracture, Coxa valga,... OMIM:608149
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Abnormal metaphysis morphology, Narrow chest, Micrognathia, Short philtrum, Do... ORPHA:93267
Myhre Syndrome
2-3 toe syndactyly, Camptodactyly, Overlapping toe, Radial deviation of finger, Short neck, Cleft... OMIM:139210
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Abnormal lower lip morphology, Cerebral cortical atrophy, Renal hypoplasia... ORPHA:1166
Pycnodysostosis
Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Increased bone mineral density,... ORPHA:763
Dubowitz Syndrome
Abnormal antihelix morphology, Delayed cranial suture closure, Delayed eruption of teeth, Toe syn... ORPHA:235
Cree Mental Retardation Syndrome
Rocker bottom foot, Downslanted palpebral fissures, Cleft soft palate, Cutaneous finger syndactyl... OMIM:606851
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Pectus excavatum, Cleft palate, Microcephaly, Cryptorchidism, Upslanted pal... OMIM:612530
Wildervanck Syndrome
Meningocele, Pseudopapilledema, Fused cervical vertebrae, Short neck, Congenital sensorineural he... ORPHA:3456
Branchioskeletogenital Syndrome
Synophrys, Bifid uvula, Pectus excavatum, Short neck, Amelia involving the lower limbs, Telecanth... ORPHA:1299
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular schwannoma OMIM:603641
Intellectual Developmental Disorder, Autosomal Dominant 43
Tapered finger, Wide nasal bridge, Synophrys, Gingival overgrowth, Thin corpus callosum, Hip dysp... OMIM:616977
Crouzon Syndrome
Conjunctivitis, Conductive hearing impairment, Narrow internal auditory canal, Narrow palate, Opt... ORPHA:207
17Q24.2 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Wide nasal bridge, Pineal cyst, Micrognathia, Synop... ORPHA:529962
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Thick upper lip vermilion, Short phalanx of finger, Flexion contracture, Thoracic hypoplasia, Wid... OMIM:611717
Meier-Gorlin Syndrome 6
Conductive hearing impairment, Delayed skeletal maturation, Cleft palate, Posteriorly rotated ear... OMIM:616835
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... ORPHA:93315
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Dilatated inte... ORPHA:1435
46,Xy Sex Reversal 4
Distal symphalangism, Sensorineural hearing impairment, High palate, Long philtrum, Microtia, Pro... OMIM:154230
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Bilateral superior vena cava, Total anomalous pulmonary veno... OMIM:613751
Acrofacial Dysostosis, Catania Type
Pectus excavatum, Spina bifida occulta, Tooth agenesis, Delayed skeletal maturation, Smooth philt... ORPHA:1786
Familial Aortic Dissection
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... ORPHA:229
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hypsarrhythmia, Unilateral renal agenesis, Recurrent otitis media, Renal hypoplasia, Low-set ears... OMIM:618494
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Delayed closure of the anterior fontanelle, Prominent nose, Wide anteri... OMIM:614886
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vesicoureteral reflux, Bifid ureter, Hypoplastic helices, Thickened helices, Renal dysplasia, Mic... OMIM:617641
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Low-set ears, Hearing impairment, Micropenis OMIM:617926
Cowden Syndrome 5
Hypothyroidism, Colonic diverticula, Furrowed tongue, Kyphosis, High palate, Hyperthyroidism, Mic... OMIM:615108
Mosaic Trisomy 8
Abnormal antihelix morphology, Camptodactyly of finger, Micrognathia, Narrow pelvis bone, Short n... ORPHA:96061
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Interrupted aortic arch, Persistent left superior vena cava, Partial anomalou... OMIM:617478
Skin Creases, Congenital Symmetric Circumferential, 2
2-3 toe syndactyly, Tapered finger, Wide nasal bridge, Epicanthus, Micrognathia, Microdontia, Syn... OMIM:616734
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasia, Optic atrophy, Microtia, Sep... ORPHA:3301
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Umbilical hernia, Downslanted palpebral fissures, Genu valgum, Mandibular prognathia, Wide nasal ... ORPHA:1778
Lowry-Maclean Syndrome
Convex nasal ridge, Micrognathia, Cleft palate, Widely patent coronal suture, Choanal atresia, Ta... ORPHA:2409
Van Den Ende-Gupta Syndrome
Convex nasal ridge, Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slend... OMIM:600920
Igg4-Related Aortitis
Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... ORPHA:449400
Opitz-Kaveggia Syndrome
Delayed closure of the anterior fontanelle, Multiple joint contractures, Epicanthus, Micrognathia... OMIM:305450
Thakker-Donnai Syndrome
Macrotia, Agenesis of corpus callosum, Bulbous nose, Anal atresia, Long palpebral fissure, Trache... ORPHA:1780
Craniofacioskeletal Syndrome
Hypoplastic frontal sinuses, Micrognathia, Cleft palate, Short palm, Posteriorly rotated ears, Ch... OMIM:300712
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Epicanthus, Narrow pelvis bone, Overlapping toe, Short neck, Delayed skeletal maturation, Short f... OMIM:616723
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Macrotia, Crossed fused renal ectopia, Unilateral renal agenesis, Low-set ears, Micropenis OMIM:618142
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Sacral dimple, Downslanted palpebral fissures, Mandibular prognathia, Tapered finger, Wide nasal ... OMIM:613603
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Epicanthus, Microdontia, Supernumerary nipple, Pectus excavatum, Cleft palate, Ab... ORPHA:1812
Flat Face-Microstomia-Ear Anomaly Syndrome
Abnormal antihelix morphology, Camptodactyly of finger, Wide nasal bridge, Micrognathia, Telecant... ORPHA:1968
Schwartz-Jampel Syndrome
Metatarsus valgus, Wrist flexion contracture, Blepharospasm, Coxa valga, Micrognathia, Increased ... ORPHA:800
Truncus Arteriosus
Abnormal superior vena cava morphology, Patent ductus arteriosus, Truncus arteriosus, Anomalous o...