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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 1.59×10-32

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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 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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Eye Morphology

VIP of left fundus

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 Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Autism, Susceptibility To, X-Linked 3
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:300496
Autism, Susceptibility To, X-Linked 1
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:300425
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Accessory ... 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
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Femoral-Facial Syndrome
Maternal diabetes, Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplas... ORPHA:1988
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Monosomy 9P
Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Anotia, High palate, Agenesis o... ORPHA:261112
Autism
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:209850
Autism, Susceptibility To, 8
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:607373
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
Abnormal clavicle morphology, Hypospadias, Abnormal dental morphology, Malar prominence, Microcep... ORPHA:2522
Mullegama-Klein-Martinez Syndrome
Micrognathia, Prominent nose, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Depres... OMIM:301022
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Epicanthus, Abnormal dental enamel morphology, Blepharophimosis, Elbow dislo... ORPHA:3236
Toriello-Carey Syndrome
Micrognathia, Short neck, Partial agenesis of the corpus callosum, Anteriorly placed anus, Anotia... ORPHA:3338
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Micrognathia, Short neck, Glossopto... OMIM:611209
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, An... ORPHA:2554
Acrofacial Dysostosis, Cincinnati Type
Ablepharon, Aplastic zygomatic arch, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Mi... OMIM:616462
Acrootoocular Syndrome
Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath... ORPHA:2980
Treacher-Collins Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, Hypo... ORPHA:861
Van Maldergem Syndrome 2
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:615546
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,... ORPHA:245
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Hypertelorism, Microtia, Facial Clefting Syndrome
Micrognathia, Microcephaly, Ectopic kidney, Broad nasal tip, Cleft upper lip, Narrow mouth, 2-3 t... OMIM:239800
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... OMIM:618780
Treacher Collins Syndrome 2
Microretrognathia, Choanal atresia, Micrognathia, Lower eyelid coloboma, Cleft palate, Fusion of ... OMIM:613717
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Maternal diabetes, Abnormality of the middle ear ossicles, Dista... ORPHA:2549
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:601390
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Braddock-Carey Syndrome 2
Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the exter... OMIM:619981
Branchiootorenal Syndrome 1
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Vesicoure... OMIM:113650
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, High palate, Narrow greater sciatic notch, Conductive hearing impairment, Joint con... OMIM:602471
Johnson Neuroectodermal Syndrome
Absent eyebrow, Facial palsy, Choanal atresia, Microcephaly, Absent eyelashes, Carious teeth, Pre... ORPHA:2316
Bor Syndrome
Branchial cyst, Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dyspl... ORPHA:107
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Thoracolumbar scoliosis, Microcephaly, Micrognathia, Short neck, Bulbou... OMIM:616549
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Choanal stenosis, ... OMIM:620186
Monosomy 22
Short neck, Synophrys, High palate, Clinodactyly of the 5th finger, Micropenis, Low-set, posterio... ORPHA:96123
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flexion contract... OMIM:224690
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ... OMIM:601808
Branchiooculofacial Syndrome
Proximal placement of thumb, Micrognathia, Short neck, Renal cyst, Conductive hearing impairment,... OMIM:113620
Lateral Meningocele Syndrome
Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo... ORPHA:2789
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Micrognathia, Prominent nose, Long nose, Clinodactyly of the 5th finger, Hypo... ORPHA:3047
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Synophrys, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Syndactyly... OMIM:614701
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Abnormality of the ki... ORPHA:521445
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis, Hearing impairment OMIM:235740
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Cardiospondylocarpofacial Syndrome
Pseudoepiphyses, Conductive hearing impairment, Vesicoureteral reflux, Joint laxity, Anteverted n... OMIM:157800
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Anotia, Atresia of the external a... OMIM:608257
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Micrognathia, Prominent nose, Underdeveloped nasal alae, Sensorineural hearing impairment, Synoph... ORPHA:90024
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Ankyloblepharon, Conjunctivit... OMIM:106260
Mandibulofacial Dysostosis, Guion-Almeida Type
Proximal placement of thumb, Micrognathia, Deep philtrum, Conductive hearing impairment, Antevert... OMIM:610536
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Abnormality of the philtrum, Renal hypoplasia/apla... ORPHA:1770
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Absent middl... OMIM:308050
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, Orofacial cleft, Absent nares, Abnormality... ORPHA:2166
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Proximal placement ... ORPHA:1488
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Ant... ORPHA:1703
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... OMIM:141400
Otofaciocervical Syndrome
Abnormal clavicle morphology, Scapular winging, Anteverted nares, Down-sloping shoulders, Depress... ORPHA:2792
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... OMIM:265000
Isotretinoin-Like Syndrome
Anteverted nares, Micrognathia, Microcephaly, Patent ductus arteriosus, Aplasia/Hypoplasia of the... ORPHA:2306
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Contracture of ... OMIM:618223
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M... OMIM:213980
Mycophenolate Mofetil Embryopathy
Micrognathia, Ectopic kidney, Tracheoesophageal fistula, Orofacial cleft, Bifid thoracic vertebra... ORPHA:268249
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Warsaw Breakage Syndrome
Optic disc coloboma, Hypoplasia of the cochlea, Cupped ear, Hearing impairment OMIM:613398
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Nephrocalci... OMIM:268310
Pallister-Hall Syndrome
Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Panhypopituitarism, Hemivertebrae, D... ORPHA:672
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, ... ORPHA:949
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Shashi-Pena Syndrome
Reduced cerebral white matter volume, Accelerated skeletal maturation, Synophrys, Short metacarpa... OMIM:617190
Acrofacial Dysostosis 1, Nager Type
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absen... OMIM:154400
Lambotte Syndrome
Telecanthus, Microcephaly, Retrognathia, Atresia of the external auditory canal, Narrow mouth, Pr... OMIM:245552
Intellectual Developmental Disorder, Autosomal Dominant 52
Prominent nose, Bilateral cryptorchidism, Synophrys, Pectus carinatum, Downturned corners of mout... OMIM:617796
Isolated Klippel-Feil Syndrome
Spina bifida, Renal hypoplasia/aplasia, Short neck, Abnormal sacrum morphology, Abnormal rib morp... ORPHA:2345
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Multiple pterygia, Abnormal eyelid morphology, Micrognathia, Symphalangism a... ORPHA:2990
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis, Epicanthus, Micrognathia, Microcephaly, Underdeveloped nasal alae, Wide n... OMIM:248910
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Micrognathia, Cleft palate, Persi... OMIM:300946
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Epicanthus, Abnormal distal phalanx morphology of finger, Hypoplasia of th... ORPHA:2673
Fanconi Anemia, Complementation Group L
Micrognathia, Short neck, Anotia, Micropenis, Esophageal atresia, Renal hypoplasia, Wide nasal br... OMIM:614083
Branchiootic Syndrome
Branchial fistula, Abnormal nasolacrimal system morphology, Facial palsy, Lip pit, Micrognathia, ... ORPHA:52429
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectu... ORPHA:1507
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
7Q31 Microdeletion Syndrome
Prominent nose, Hypoplasia of the maxilla, Enuresis nocturna, Hypoplasia of the semicircular cana... ORPHA:251061
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment, Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Sifrim-Hitz-Weiss Syndrome
Anteriorly placed anus, Vesicoureteral reflux, Micropenis, Bifid uvula, Hypogonadotropic hypogona... OMIM:617159
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Autism, Susceptibility To, X-Linked 2
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:300495
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Opt... OMIM:123500
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... ORPHA:2311
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, ... OMIM:618504
Hypertelorism-Microtia-Facial Clefting Syndrome
Microcephaly, Bifid nasal tip, Horseshoe kidney, Microtia, Atresia of the external auditory canal... ORPHA:2213
Vacterl With Hydrocephalus
Absence of the sacrum, Microtia, third degree, Renal agenesis, Spina bifida, Micrognathia, Renal ... ORPHA:3412
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Mandibular prognathia, Synophrys, Abnormal form of the vertebral bodies, Pectus... ORPHA:1327
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the gingiva, Renal cyst, T... ORPHA:798
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generalized joint laxit... OMIM:618000
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Atelosteogenesis, Type I
Laryngeal stenosis, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, ... OMIM:108720
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu v... ORPHA:3320
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Kbg Syndrome
Persistent open anterior fontanelle, Short neck, Synophrys, Finger clinodactyly, Widely-spaced ma... ORPHA:2332
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Carcinoid tumor, Abnormality of the auditory ... ORPHA:100084
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Short neck, Cleft upper lip, Sensorineural hearing impairment, Cleft p... OMIM:214300
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Microtia, Low-set ears OMIM:617564
Aarskog-Scott Syndrome
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly... ORPHA:915
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... ORPHA:1475
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment, Vesicoureteral reflux OMIM:605192
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy ORPHA:1513
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, Vertebral segm... ORPHA:87
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Renal agenesis, Choanal atresia, Unilateral renal agenesis, Microcephaly, Pectus excav... OMIM:619227
Koolen-De Vries Syndrome
Ureteral duplication, High, narrow palate, Protruding ear, Vertebral segmentation defect, Vesicou... ORPHA:96169
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micrognathia, Pectus carinatum, Abnormal septum pellucidum morphology, Short palm, Micropenis, Hy... ORPHA:171839
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Thin upper lip vermilion, Brachydactyly, Microcephaly, Bifid distal phalanx of the thumb, Moderat... ORPHA:370010
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Telecanthus, Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive ... ORPHA:2010
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Microretrognathia, Epicanthus, Finger syndactyly, Arachnodacty... ORPHA:2994
Lamb-Shaffer Syndrome
Epicanthus, Microcephaly, Micrognathia, Broad nasal tip, Decreased head circumference, Optic atro... ORPHA:530983
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, Hemivertebrae, ... OMIM:164210
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Frontometaphyseal Dysplasia
Subglottic stenosis, Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal... ORPHA:1826
Beare-Stevenson Cutis Gyrata Syndrome
Anteriorly placed anus, High palate, Choanal stenosis, Agenesis of corpus callosum, Bifid uvula, ... OMIM:123790
Cerebrocostomandibular Syndrome
Death in infancy, Multicystic kidney dysplasia, Hydranencephaly, Cerebral calcification, Spina bi... ORPHA:1393
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Reduced cerebral white matter volume, Microcephaly, Narrow mouth, Wide nasal bridge, Downturned c... OMIM:617333
Fraser Syndrome 1
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Laryngeal stenosis, Cleft ala nasi, Dental ... OMIM:219000
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Tra... OMIM:613458
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... OMIM:619503
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
14Q22Q23 Microdeletion Syndrome
Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Downturned corners of mouth, Sho... ORPHA:264200
Radial-Renal Syndrome
External ear malformation, Unilateral renal agenesis, Ectopic kidney OMIM:179280
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners... OMIM:617140
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Diamond-Blackfan Anemia 10
Macrocytic anemia, Posteriorly rotated ears, Renal duplication, Choanal atresia, Micrognathia, Ec... OMIM:613309
Aorta Coarctation
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... ORPHA:1457
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Chromosome 15Q11-Q13 Duplication Syndrome
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:608636
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa... OMIM:186500
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Wide nose, Micrognathia, Microcephaly, Limbal dermoid, Underd... ORPHA:398156
6Q16 Microdeletion Syndrome
Abnormal ear morphology, Anteverted nares, Depressed nasal bridge, Micrognathia, Almond-shaped pa... ORPHA:171829
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Epicanthus, Congenital hip dislocation, An... ORPHA:2412
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis OMIM:184460
8Q22.1 Microdeletion Syndrome
Short neck, Hypoplasia of the maxilla, Depressed nasal ridge, Finger syndactyly, Underfolded heli... ORPHA:178303
Isotretinoin Embryopathy-Like Syndrome
Anotia, Microtia, Cleft palate, Micrognathia OMIM:243440
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... ORPHA:280
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... OMIM:101200
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Nephrocal... ORPHA:79500
Aicardi Syndrome
Partial agenesis of the corpus callosum, Protruding ear, Short philtrum, Aplasia/Hypoplasia of th... ORPHA:50
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Mandibular prognathia, Thoracic scoliosis, Micrognathia, Short neck, Generaliz... ORPHA:508498
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Catifa Syndrome
Delayed eruption of teeth, Epicanthus, Anteverted nares, Cleft lip, Cleft palate, Mild microcepha... OMIM:618761
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Epicanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth... ORPHA:261295
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Kbg Syndrome
Tented upper lip vermilion, Short neck, Epispadias, Synophrys, Protruding ear, Widely-spaced maxi... OMIM:148050
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Epicanthus, Congenital hip dislocation, Rocker bottom foot, Pyloric stenosis, Short 5th finger, A... OMIM:133705
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Symphalangism, Proximal, 1A
Conductive hearing impairment, Stapes ankylosis OMIM:185800
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Periventricular cysts, Clinodactyly of the 5th finger, Absent eyebrow, ... ORPHA:544488
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries OMIM:231060
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Abnormality of the dentition, Clinodactyly of the 5th finger, Atresia of the external auditory ca... OMIM:221320
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Patent ductus arter... ORPHA:860
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal... OMIM:602535
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Short neck, High palate, Arachnodactyly, Highly arched e... ORPHA:505237
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Micr... ORPHA:261236
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Widely-spaced maxillary central incisors, Conductive hearing impairmen... OMIM:136760
3Mc Syndrome 2
Limited elbow movement, Downturned corners of mouth, High palate, Abnormal vertebral morphology, ... OMIM:265050
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abno... ORPHA:1597
Wilson-Turner Syndrome
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Uplifted earlobe, Micrognathia, Malar pr... ORPHA:3459
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Renpenning Syndrome
Mandibular prognathia, Prominent nose, High, narrow palate, Short philtrum, Clinodactyly of the 5... ORPHA:3242
Frontometaphyseal Dysplasia 2
Subglottic stenosis, Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatars... OMIM:617137
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Downturned... ORPHA:199
Fanconi Anemia, Complementation Group I
Absent septum pellucidum, Decreased response to growth hormone stimulation test, Optic nerve hypo... OMIM:609053
Elsahy-Waters Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Anteriorly... OMIM:211380
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Micrognathia, Microcephaly, Cryptorchidism, Kyphosis, Short neck, Cerebral at... OMIM:611890
Cerebrofaciothoracic Dysplasia
Cerebellar vermis hypoplasia, Short neck, Synophrys, Hemivertebrae, Sprengel anomaly, Vertebral s... ORPHA:1394
Robinow Syndrome
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Webbed penis, Micropenis, Long phi... ORPHA:97360
Coxoauricular Syndrome
Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pelvic girdle ... ORPHA:1508
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Short neck, Cryptor... OMIM:618393
Zechi-Ceide Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Short metatarsal, Downturned corners of mout... ORPHA:217017
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... OMIM:610829
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Mic... OMIM:244200
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Unilateral renal agenesis, Aggressive behavior,... ORPHA:3306
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... ORPHA:2260
Diamond-Blackfan Anemia 11
Bilateral cleft palate, Hypoplasia of the ulna, Unilateral renal agenesis, Absent thumb, Unilater... OMIM:614900
Fraser Syndrome
Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Cleft ala nasi, Dental crowding, Or... ORPHA:2052
Lateral Meningocele Syndrome
Dental crowding, Micrognathia, Short neck, High palate, Conductive hearing impairment, Vertebral ... OMIM:130720
Recon Progeroid Syndrome
Attached earlobe, Joint laxity, Prominence of the premaxilla, Smooth philtrum, Arachnodactyly, An... OMIM:620370
19P13.3 Microduplication Syndrome
Micrognathia, Prominent nose, Short philtrum, Precocious puberty, Osteoporosis, Microtia, Thick v... ORPHA:447980
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Choanal atresia, Short thumb, Patent ductus arteriosus, Osteoporos... OMIM:612562
Pfeiffer Syndrome Type 2
Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalanx, Depressed nasal bri... ORPHA:93259
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Synophrys, Subcortical band... OMIM:618737
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Papilledema, Thickened ribs, Depressed nasal br... OMIM:122860
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Aganglionic megacolon, Intestinal malrotation, Hearing impairment, Intestina... OMIM:243180
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... OMIM:201000
Chromosome 22Q11.2 Duplication Syndrome
Epicanthus, Abnormal pinna morphology, Micrognathia, Microcephaly, Velopharyngeal insufficiency, ... OMIM:608363
Holoprosencephaly 7
Synophrys, Partial agenesis of the corpus callosum, Hypoplasia of the brainstem, Hypoplastic nasa... OMIM:610828
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ... OMIM:616331
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Subglottic stenosis, Decreased response to growth hormone stimulation test, Micrognathia, Synophr... ORPHA:444077
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Cerebral calcification, Proximal placement of th... ORPHA:628
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Adrenal hypoplasia, Microcephaly, Proboscis... OMIM:157170
Barber-Say Syndrome
Delayed eruption of teeth, Ablepharon, Telecanthus, Ectropion, Abnormal pinna morphology, Antever... ORPHA:1231
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia OMIM:617830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Micrognathia, Hypoplasia of the brainstem, Congenital contracture, Pachy... OMIM:236670
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Deafness, X-Linked 7
Telecanthus, Posteriorly rotated ears, Hearing impairment, Wide nasal bridge, Atresia of the exte... OMIM:301018
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Abnormality of the kidney, Unilateral renal agenesis, Short neck, Senso... OMIM:118100
Femoral-Facial Syndrome
Short fourth metatarsal, Maternal diabetes, Micrognathia, Limited elbow movement, Hemivertebrae, ... OMIM:134780
Tetraploidy
Convex nasal ridge, Microcephaly, Micrognathia, Radial club hand, Renal hypoplasia/aplasia, Cleft... ORPHA:3305
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge,... OMIM:618829
Bresek Syndrome
Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Crypto... ORPHA:85284
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the ... ORPHA:776
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Micrognathia, Abnormality of the urethra, Abnormality of the... ORPHA:2145
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Synophrys, Depressed nasal ridge, Orofacial cleft, High palate, Thickened helices... OMIM:607872
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Ring Chromosome 8 Syndrome
Epicanthus, Anteverted nares, Abnormality of the ureter, Deviation of finger, Round ear, Short no... ORPHA:1450
Ohdo Syndrome
Micrognathia, Widely spaced teeth, Clinodactyly of the 5th finger, Joint laxity, Anteverted nares... OMIM:249620
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia, Low-set ears OMIM:617661
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Micrognathia, Short neck, Clinodactyly of the 5th finger, Cryptorchidism, Ap... ORPHA:3409
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment OMIM:251800
Wolf-Hirschhorn Syndrome
Micrognathia, Periventricular cysts, Abnormal form of the vertebral bodies, Orofacial cleft, Down... OMIM:194190
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
3-Hydroxyisobutyric Aciduria
Cerebral calcification, Hypogonadotropic hypogonadism, Microcephaly, Micrognathia, Aplasia/Hypopl... ORPHA:939
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Azoospermia, Conductive hearing impair... OMIM:601076
Chops Syndrome
Brachydactyly, Anteverted nares, Tracheomalacia, Microcephaly, Cryptorchidism, Synophrys, High, n... OMIM:616368
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Prolonged brainstem auditory evoked potentials, Decreased motor n... OMIM:601596
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Craniosynostosis, Micrognathia, Pyloric stenosis, Sensorineural hea... ORPHA:261197
Aredyld Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Craniofacial hyperostosis, Smooth philt... ORPHA:1133
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Underdeveloped antitragus, Prominent nose, Glandular hypospadias, Abnormal caudate nucleus morpho... ORPHA:293725
Ablepharon Macrostomia Syndrome
Absent eyebrow, Ablepharon, Toe syndactyly, Hypoplasia of penis, Camptodactyly of finger, Antever... ORPHA:920
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Short neck, Fetal pyelectasis, Nephrocalcin... ORPHA:264450
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Abnormality of the kidney, Micrognathia, Cryptorchidism... ORPHA:1724
Craniometaphyseal Dysplasia
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive... ORPHA:794
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Hypoplasia of penis, Micrognathia, Short neck, Pectus carinatum, Clinodact... ORPHA:3082
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal metatarsal morphology, Short neck, Enlarged thorax, Thick upper lip vermilion, Limited p... ORPHA:163654
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Micrognathia, Short n... ORPHA:263508
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short palm, Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Hypoplasia of the maxi... ORPHA:85279
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... OMIM:620107
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Diffuse cerebral atrophy, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Choanal st... ORPHA:83617
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, ... OMIM:616367
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Coronal craniosynostosis, High... OMIM:614188
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Cerebellar vermis hypoplasia, Micrognathia, Lateral clavicle hook, Femoral ... OMIM:274000
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Asplenia, High palate, Narrow chest, Sh... OMIM:617746
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... OMIM:210720
Trisomy 20P
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Protruding ear, Reduced bone min... ORPHA:261318
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the maxilla, High palate, Conductive hearing impai... ORPHA:1307
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Hypogonadism, Hydronephrosis, Hearing impairment OMIM:615996
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Anteverted nares, Microcephaly, Abnormality of the endocrine system, Cry... ORPHA:464288
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Micrognathia, High, narrow palate, Large iliac wing, Conductive hearing i... ORPHA:2780
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Verheij Syndrome
Branchial cyst, Short neck, Hemivertebrae, Renal cyst, Joint laxity, Vertebral fusion, Anteverted... OMIM:615583
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Urinary incontinence, Vertigo, Cranial nerve compression... ORPHA:268882
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Epicanthus, Aplasia/Hypoplasia of the maxi... ORPHA:40366
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, EEG abnormality, Prolinuria... OMIM:239500
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Short neck, Synophrys, Partial agenesis of the corpus callosum, Thoracic kyphosis, ... OMIM:620250
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... ORPHA:90652
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... ORPHA:2839
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... OMIM:218600
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Horner syndrome, Microt... OMIM:141300
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Protruding ear, Inc... ORPHA:481152
Atelis Syndrome 1
Glue ear, Prominent nose, Carious teeth, Hypothyroidism, Thrombocytopenia, Lumbar kyphosis, Leuko... OMIM:620184
Acrocephalopolydactyly
Epicanthus, Genu recurvatum, Short neck, Abnormal renal morphology, Depressed nasal ridge, Hepato... ORPHA:221054
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Abnormal number of incisors, Coxa valga, Prominent nose, Cryptorchidism, Osteoporosis... ORPHA:2958
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Overriding aorta, Vascular ring OMIM:601927
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Epistaxis, Dental crowding, Microcephaly, Hypoplasia of the maxilla, Meta... ORPHA:293939
Fraser Syndrome 2
Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Underde... OMIM:617666
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema, Abnormality of the outer ear, Hearing impairment OMIM:314600
Fg Syndrome Type 1
Dental crowding, Micrognathia, Prominent nose, Generalized joint laxity, Abnormal sternum morphol... ORPHA:93932
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:312150
Trisomy 13
High, narrow palate, Narrow chest, Abnormal eyelash morphology, Cryptorchidism, Patent ductus art... ORPHA:3378
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Ectopic kidney, Porencephalic cyst, Renal cyst, Anterio... OMIM:117650
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Lower Limb Malformation-Hypospadias Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Hypospadias, Short neck, Abnormality of the spl... ORPHA:2487
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Pectus carinatum, Short palm, Clinodactyly of the 5th finger, Abnorma... ORPHA:363659
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Absent trag... OMIM:603457
Autosomal Dominant Spondylocostal Dysostosis
Anteverted nares, Microcephaly, Hyperlordosis, Missing ribs, Short neck, Short thorax, Abnormal r... ORPHA:1797
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Prominent nose, Hemivertebrae,... OMIM:156200
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the urinary system, Abnormality of... ORPHA:90117
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Wide nose, Thin upper lip vermilion, Micrognathia, Synophrys, Microtia, E... ORPHA:357175
Combined Oxidative Phosphorylation Deficiency 34
Congenital sensorineural hearing impairment, Hypergonadotropic hypogonadism, Elevated circulating... OMIM:617872
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... OMIM:613854
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Cohen Syndrome
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short p... ORPHA:193
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h... OMIM:619178
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Protruding ear, Downturned co... ORPHA:500150
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormality of the philtrum, Microc... ORPHA:276422
Schilbach-Rott Syndrome
Epicanthus, Posteriorly rotated ears, Hypospadias, Micrognathia, Microcephaly, Prominent nose, 2-... OMIM:164220
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Wide nose, Thin upper lip vermilion, Micrognathia, Synophrys, Downturned ... OMIM:615162
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ... ORPHA:819
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Skeletal muscle atrophy, Vascular ring OMIM:603387
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Short neck, Abnormality of the spleen, Renal cyst, Abnormal form of the vertebral b... ORPHA:1834
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... ORPHA:246
Multiple Synostoses Syndrome
Conductive hearing impairment ORPHA:3237
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Posteriorly rotated ears, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Hypsarrhyt... OMIM:618494
Ohdo Syndrome, X-Linked
Micrognathia, Prominent nose, High palate, Narrow chest, Widely spaced teeth, Microdontia, Microp... OMIM:300895
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... OMIM:212720
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, Pectus carinatu... ORPHA:192
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Clinodactyly of the 5th finger, Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Protruding ear, Narrow pal... OMIM:618302
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Micrognathia, Choanal atresia,... OMIM:154500
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Kapur-Toriello Syndrome
Hypoplasia of penis, Posteriorly rotated ears, Intestinal malrotation, Short neck, Dysplastic cor... ORPHA:2328
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Epicanthus, Abnormality of the philtrum, Microcephaly, Abnormality of the dent... ORPHA:3268
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,... ORPHA:90650
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Cenani-Lenz Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot oligodactyly, Sh... ORPHA:3258
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:163976
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Clinodactyly, Prominent fingertip pads, Broad hallux, Cleft soft palate, Anteverted... OMIM:618529
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Epicanthus, Macrodontia, Abnormal dental enamel morpholo... ORPHA:2916
Koolen-De Vries Syndrome
Anteverted ears, High palate, Widely spaced teeth, Prominent fingertip pads, Vesicoureteral reflu... OMIM:610443
Even-Plus Syndrome
Epiphyseal dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Short neck, Bifi... OMIM:616854
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ... ORPHA:439822
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hypoplasia of penis, Abnormal pinna morphology, Hypogonadotropic hypog... ORPHA:3068
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Relative macrocephaly, Osteopenia, Metaphyseal dysplasia, Posteriorly rotated ears, Decreased res... OMIM:618336
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Protruding ear, Conductive hearing impairment, Heari... OMIM:608572
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent... ORPHA:2180
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Decreased proportion of nai... ORPHA:83471
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Delayed cranial suture closu... ORPHA:90674
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Split hand... OMIM:246560
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Cryptorchidism, Attention deficit hyperactivity disorder, Chronic otit... OMIM:609757
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Arachnodactyly, Sandal gap, Anteverted nares, Abnormality of t... ORPHA:1035
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Ureteral duplication, Micrognathia, Microcephaly, Cryptorchidi... ORPHA:1926
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Dental crowding, Micrognath... OMIM:619941
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... OMIM:253290
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Meta... OMIM:182212
Nablus Mask-Like Facial Syndrome
Short neck, Hypoplasia of the maxilla, High palate, Small earlobe, Micropenis, Anteverted nares, ... OMIM:608156
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Abnormal dental morphology, Alveola... ORPHA:2972
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Au-Kline Syndrome
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Shallow orb... OMIM:616580
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Conductive hea... ORPHA:1606
Contractures-Developmental Delay-Pierre Robin Syndrome
Micrognathia, High, narrow palate, Abnormal finger morphology, Glossoptosis, Abnormality of front... ORPHA:436003
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... ORPHA:1529
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... OMIM:300534
Brachycephaly, Trichomegaly, And Developmental Delay
Prominent fingertip pads, Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Microcephaly... OMIM:617412
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Sinusitis, ... OMIM:102700
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Ciliary Dyskinesia, Primary, 40
Right aortic arch, Patent ductus arteriosus, Interrupted inferior vena cava with azygous continua... OMIM:618300
Tarp Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Glossoptosis, High palate, Neonatal death, Anteverted... OMIM:311900
Lessel-Kubisch Syndrome
Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:618681
Warburg-Cinotti Syndrome
Dental crowding, High palate, Conductive hearing impairment, Wrist flexion contracture, Symblepha... OMIM:618175
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Wide nose, Hearing impairment, Hypoplasia of the maxilla, Short nose, Optic atroph... OMIM:614261
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Tapered f... OMIM:218000
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Recurrent upper r... OMIM:602450
Faciodigitogenital Syndrome, Autosomal Recessive
Deep philtrum, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Syndactyly, Antever... OMIM:227330
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Hypoplasia of the ... OMIM:305400
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Coxa valga... OMIM:614753
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Upslanted palpebral fissure, Macr... ORPHA:93950
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin... ORPHA:90673
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Isotretinoin Syndrome
Sacral dimple, Depressed nasal bridge, Micrognathia, Cleft palate, Microtia, Biparietal narrowing... ORPHA:2305
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... ORPHA:2790
Cerebrofacioarticular Syndrome
Osteopenia, Irregular dentition, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the ma... ORPHA:314679
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... OMIM:178110
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Microcephaly, S... OMIM:613805
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Autism, Susceptibility To, 3
EEG abnormality, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive be... OMIM:608049
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:616341
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Aplasia/Hypoplasia of the cerebellum, Choanal atresia, Hypoplasia of the maxilla, ... ORPHA:93262
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Posteriorly rotated ears, Sandal gap, Microcephaly, Tapered finger, Cleft lip, Narrow mouth, Smal... OMIM:618089
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... ORPHA:93316
Heterotaxy, Visceral, 7, Autosomal
Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azygous conti... OMIM:616749
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Synophrys, High palate, Short philtrum, Anteverted nares, Tapered finger, Wide ... OMIM:616977
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil... OMIM:614922
Aicardi Syndrome
Cerebellar vermis hypoplasia, Proximal placement of thumb, Partial agenesis of the corpus callosu... OMIM:304050
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Anteverted nares, Underdeveloped nasal alae, Flexion contracture, Congenital pyloric atresia, Mic... OMIM:612138
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Anteverted ears, Vesicoureteral reflux, Thickened helices, Micropenis, Cryptorchi... OMIM:617641
Seckel Syndrome 5
Selective tooth agenesis, Micrognathia, Simplified gyral pattern, Oligodontia, High palate, Clino... OMIM:613823
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Tented upper lip vermilion, Short neck, Deep philtrum, Simplified gyral pa... OMIM:618622
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short neck, Delayed epiphyseal ossification, Deep philtrum, Narrow chest, Death in childhood, Dys... OMIM:613320
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Re... OMIM:615993
Distal Triplication 15Q
Micrognathia, Flexion contracture, Abnormal sternum morphology, High palate, Dandy-Walker malform... ORPHA:314588
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Micrognathia, Synophrys, Protruding ear, Anodontia, Finger syndactyly, Abnormal dental morphology... ORPHA:3253
Parenti-Mignot Neurodevelopmental Syndrome
Epicanthus, Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Micrognathia, Syn... OMIM:619873
17Q24.2 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Short neck, Synophrys, Pinea... ORPHA:529962
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Attention deficit h... ORPHA:281090
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Aggressive behavior, EEG abnormality, Inappropriate laughter, Bruxism, Abnormal repetitive manner... OMIM:619150
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Microcephaly, Pectus excavatum, Short neck, Cleft upper lip... OMIM:609654
Distal Deletion 10P
Low-set, posteriorly rotated ears, Hypoplasia of penis, Micrognathia, Microcephaly, Cryptorchidis... ORPHA:1580
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... OMIM:300373
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Cerebral calcification, Micrognathia, Nephrogenic diabetes insipidus, Carious teeth, Supernumerar... ORPHA:3145
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Acc... ORPHA:373
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Codas Syndrome
Congenital hip dislocation, Abnormal form of the vertebral bodies, Short metacarpal, Anteverted n... ORPHA:1458
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Low-set ears, Neonatal death, Renal ... OMIM:236500
Aminopterin Syndrome Sine Aminopterin
Thoracic scoliosis, Micrognathia, Oligodontia, High palate, Syndactyly, Rudimentary postaxial pol... OMIM:600325
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Toluene Embryopathy
Smooth philtrum, Epicanthus, Micrognathia, Microcephaly, Cryptorchidism, Tapered finger, Abnormal... ORPHA:1920
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Interrupted aortic arch ORPHA:1727
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... ORPHA:235
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Micrognathia... ORPHA:93267
Branchioskeletogenital Syndrome
Attached earlobe, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb perome... ORPHA:1299
Kagami-Ogata Syndrome
Long clavicles, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Hypoplasi... OMIM:608149
Peroxisome Biogenesis Disorder 2A (Zellweger)
Epicanthus, Palpebral edema, Micrognathia, Metatarsus adductus, Cryptorchidism, Optic nerve dyspl... OMIM:214110
Crouzon Syndrome
Choanal atresia, Hearing impairment, Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic... ORPHA:207
Orofaciodigital Syndrome Xvii
Micropenis, Renal hypoplasia, Low-set ears, Hearing impairment OMIM:617926
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Hypoplasia of the maxilla... OMIM:309520
Wildervanck Syndrome
Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Fused cervica... ORPHA:3456
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Abnormal clavicle morphology, Decr... ORPHA:763