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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
decreased prepulse inhibition Eya1tm1b(EUCOMM)Hmgu HET Early adult 1.59×10-32
preweaning lethality, incomplete penetrance Eya1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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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
Heterotaxy, Visceral, 4, Autosomal
Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with... OMIM:613751
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w... OMIM:139210
Chromosome 1Q41-Q42 Deletion Syndrome
Tented upper lip vermilion, Deep philtrum, Vertebral segmentation defect, High palate, Short phil... OMIM:612530
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Micrognathia, Microcephaly, Cryptorchidism, Joint stiffness, Renal hypoplasia/aplasia, Cleft pala... ORPHA:1166
Meier-Gorlin Syndrome 6
Decreased response to growth hormone stimulation test, Depressed nasal ridge, Simplified gyral pa... OMIM:616835
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... ORPHA:229
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Partial agenesis of the corpus callosum, Vesicoureteral reflux, Hypospadia... OMIM:619103
Distal Monosomy 7Q36
Hypoplasia of penis, Micrognathia, Microcephaly, Cryptorchidism, Pectus excavatum, Short neck, Op... ORPHA:1636
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Flexion contracture, Short palm, Hypoplastic iliac w... OMIM:611717
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Rocker bottom foot, ... OMIM:606851
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Protruding ear, Reduced bone mineral density, Tibial bowing, Pectus carina... ORPHA:93315
46,Xy Sex Reversal 4
Renal dysplasia, Distal symphalangism, Hypergonadotropic hypogonadism, Anteverted nares, Microgna... OMIM:154230
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Epicanthus, Delayed closure of the anterior fontanelle, Microcephal... OMIM:614886
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... OMIM:615108
Schwartz-Jampel Syndrome
Micrognathia, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Lo... ORPHA:800
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Unilateral renal agenesis, Low-set ears, Micropenis, Macrotia OMIM:618142
Moebius Syndrome
Abnormal nasopharynx morphology, Micrognathia, Short neck, Congenital fibrosis of extraocular mus... OMIM:157900
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... OMIM:616723
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Anomalous origin of one pulmo... ORPHA:3384
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Micrognathia, Multiple prenatal fractures, Beaded ribs, Short neck, Flexion contractu... OMIM:616897
Thakker-Donnai Syndrome
Posteriorly rotated ears, Anteverted nares, Short neck, Bulbous nose, Hemivertebrae, Tracheoesoph... ORPHA:1780
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Micrognathia, Short neck, Prominent nose, Partial a... OMIM:305450
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Right aortic arch, Interrupted aortic arch, Truncus ar... OMIM:617478
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short... OMIM:252100
Lowry-Maclean Syndrome
Osteopenia, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, High, narrow palat... ORPHA:2409
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Abnormal eyelid morphology, Aplasia/Hypoplasia of the cerebellum, Microdonti... ORPHA:1812
Keipert Syndrome
Broad hallux phalanx, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Prominent n... ORPHA:2662
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... OMIM:617519
Craniofacioskeletal Syndrome
Micrognathia, Short philtrum, Short palm, Clinodactyly of the 5th finger, Barrel-shaped chest, Ab... OMIM:300712
Vertebral Hypersegmentation And Orofacial Anomalies
Epicanthus, Scapular winging, Anteverted nares, Supernumerary nipple, Micrognathia, Pectus excava... OMIM:619122
Skin Creases, Congenital Symmetric Circumferential, 2
Uplifted earlobe, Micrognathia, Short neck, Synophrys, Ureterocele, Short palm, Clinodactyly of t... OMIM:616734
Acrofacial Dysostosis, Catania Type
Short palm, Clinodactyly of the 5th finger, Spina bifida occulta, Low-set, posteriorly rotated ea... ORPHA:1786
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Absent lacrimal punctum, Telecanthus, Abnormal pinna morphology, Posteriorly r... ORPHA:228396
Desmosterolosis
Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ... ORPHA:35107
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Aplasia/Hypop... ORPHA:3301
Mosaic Trisomy 8
Micrognathia, Short neck, Protruding ear, Vertebral segmentation defect, High palate, Narrow ches... ORPHA:96061
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Pec... OMIM:115150
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Epicanthus, Telecanthus, Cubitus valgus, Cryptorchidism, Wide nasal bridge... ORPHA:1778
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Epicanthus, Sacral dimple, Aganglionic megacolon, Megal... OMIM:613603
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Abnormal repetitive mannerisms, Hyperactivity, Optic atrophy, Aggressive behavior OMIM:619470
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... OMIM:609425
Frontorhiny
Hypoplasia of the maxilla, Finger clinodactyly, Basal encephalocele, Low-set, posteriorly rotated... ORPHA:391474
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Antley-Bixler Syndrome
Femoral bowing, Narrow chest, Elbow ankylosis, Low-set, posteriorly rotated ears, Arachnodactyly,... ORPHA:83
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f... ORPHA:2872
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Hypoplasia of... OMIM:620157
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Mi... ORPHA:3186
Aural Atresia, Congenital
Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal OMIM:607842
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Microcephaly, Delayed s... OMIM:613804
Mesomelia-Synostoses Syndrome
Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morphology, Clinodac... ORPHA:2496
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Heterotaxy, Visceral, 6, Autosomal
Right aortic arch, Double outlet right ventricle, Total anomalous pulmonary venous return, Transp... OMIM:614779
Flat Face-Microstomia-Ear Anomaly Syndrome
Abnormal oral mucosa morphology, Micrognathia, Long nose, High, narrow palate, Downturned corners... ORPHA:1968
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Lateral clavicle hook, Short neck, Preaxial polydactyly, Long thorax, Narrow greate... OMIM:617925
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Renal hypoplasia, Self-injurious behavior, Abnormal... OMIM:618914
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Limited elbow movement, Prominent nose, Synophrys, Camptodactyly of t... OMIM:300280
Shprintzen-Goldberg Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the ve... ORPHA:2462
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Osteopenia, Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulder... OMIM:212112
Isolated Atp Synthase Deficiency
Sensorineural hearing impairment, Optic atrophy, Renal hypoplasia, Hyperammonemia, 3-Methylglutac... ORPHA:254913
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Hallux valgus, Diabetes mellitus, Micrognathia, Microcephaly, Prominent nose, Pectus ... OMIM:620194
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Smooth philtrum, Posteriorly rotated ears, Anteverted nares, Micrognathia, Synophrys, Wide nasal ... OMIM:602562
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch ORPHA:2248
Meier-Gorlin Syndrome 3
Micrognathia, Hypoplasia of the maxilla, Patellar hypoplasia, Coxa vara, Narrow chest, Micropenis... OMIM:613803
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Clinodactyly ... OMIM:272460
Microcephaly 6, Primary, Autosomal Recessive
Bifid nasal tip, Small cerebral cortex, Microtia, Microcephaly OMIM:608393
Ciliary Dyskinesia, Primary, 37
Right aortic arch OMIM:617577
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Hearing impairment, Micrognathia, Hypoplasia of the maxilla... OMIM:615109
Coxoauricular Syndrome
Microtia, Hip dislocation, Hearing impairment OMIM:122780
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Micrognathia, Cleft hard palate, Broad nasal tip, Delayed ep... ORPHA:166016
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... OMIM:114290
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Cohen Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Micrognathia, Hypoplas... OMIM:216550
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Interrupted aortic arch, Limb hypertonia OMIM:616920
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Hypoplasia of penis, Renal hypoplasia, Protruding ear ORPHA:2256
Distal 17P13.1 Microdeletion Syndrome
Arachnodactyly, Unilateral polymicrogyria, Limited elbow movement, Microcephaly, Prominent nasal ... ORPHA:319171
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Pulsatile tinnitus, Elevated urinary norepinephrine level, Paroxy... ORPHA:94080
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Epicanthus, Prominent nasal bridge, Micrognathia, Microcephaly... ORPHA:1131
Distal Deletion 10Q
Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder... ORPHA:96148
Distal Deletion 12Q
Micrognathia, Ectopic kidney, High, narrow palate, Short neck, Aplasia/Hypoplasia of the middle p... ORPHA:96149
Trisomy 1Q
Agenesis of corpus callosum, Microretrognathia, Multicystic kidney dysplasia, Arachnodactyly, Dep... ORPHA:261344
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia... ORPHA:1436
Greenberg Dysplasia
Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variation in bone mi... OMIM:215140
Acrodysostosis
Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Short metatars... ORPHA:950
Dworschak-Punetha Neurodevelopmental Syndrome
Peripheral axonal neuropathy, Cupped ear, Unilateral renal hypoplasia, Large earlobe, Vesicourete... OMIM:619955
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment ORPHA:85179
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Osteopenia, Dental crowding, High palate, Microdontia, Broad ribs, Genu va... OMIM:269300
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, Pat... ORPHA:2712
Hadziselimovic Syndrome
Posteriorly rotated ears, Renal hypoplasia, Low-set ears OMIM:612946
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te... OMIM:257850
Temple Syndrome
Micrognathia, Flexion contracture, High palate, Short philtrum, Bifid uvula, Anteverted nares, De... OMIM:616222
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Short neck, Prominent nose, High, narrow palate, Deep philtrum, Downturned... OMIM:619950
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Sparse eyebrow,... OMIM:167730
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Short neck, Kyphosis, Synophrys, Short th... ORPHA:2983
Microphthalmia, Syndromic 3
Anterior pituitary hypoplasia, Hemivertebrae, Micropenis, Agenesis of corpus callosum, Vertebral ... OMIM:206900
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Myelomening... ORPHA:1914
Stickler Syndrome, Type I
Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodac... OMIM:108300
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Short iliac bo... ORPHA:3003
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetiti... OMIM:618718
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Partial agenesis... OMIM:615948
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Microcephaly, Open bite, Dental malocclusion, ... ORPHA:3079
Marden-Walker Syndrome
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Agenesis of co... ORPHA:2461
Congenital Disorder Of Deglycosylation 2
Sacral dimple, Cerebellar vermis hypoplasia, Genu recurvatum, Sandal gap, Highly arched eyebrow, ... OMIM:619775
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Goldberg-Shprintzen Syndrome
Short neck, Hypoplasia of the maxilla, Synophrys, Hypoplasia of the brainstem, Oligodontia, Short... OMIM:609460
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Narrow palate, Femoral bowing, Macroglo... OMIM:617022
Seckel Syndrome 1
Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Selective tooth ag... OMIM:210600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch,... OMIM:616300
Coffin-Siris Syndrome 12
Micrognathia, Synophrys, Protruding ear, High palate, Hippocampal atrophy, Hypothyroidism, Simple... OMIM:619325
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Joint ... ORPHA:90653
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Short... ORPHA:96334
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Ptosis, Proteinuria, Blepharophimosis, Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of ... ORPHA:2728
Chopra-Amiel-Gordon Syndrome
EEG abnormality, Attention deficit hyperactivity disorder, Unilateral renal agenesis OMIM:619504
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Osteopenia, Prominent nose, Short metatarsal, Long philtrum, Short metacar... OMIM:614813
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Protruding ear, Enlarged thor... ORPHA:2616
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Agenesis of c... OMIM:619194
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micrognathia, Short neck, Prominent nose, Lo... ORPHA:2636
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism... ORPHA:2658
Turnpenny-Fry Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Prominent interphalangeal j... OMIM:618371
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
EEG abnormality, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ... OMIM:171480
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Split hand, Vertebral segmentation defect, Foot polydactyly, Phocomelia, D... ORPHA:3004
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Ectopic kidney, Short neck, Abnormal form of the v... ORPHA:233
Microphthalmia, Lenz Type
Abnormal clavicle morphology, Ankyloblepharon, Orofacial cleft, Abnormal shoulder morphology, Lon... ORPHA:568
Charge Syndrome
Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Hypoplasia of the semicircular canal, ... ORPHA:138
Distal Duplication 6P
Aplasia/Hypoplasia of the earlobes, Renal hypoplasia, Abnormal antitragus morphology, Abnormality... ORPHA:1745
Marden-Walker Syndrome
Micrognathia, Short neck, High, narrow palate, Hypoplasia of the brainstem, Congenital contractur... OMIM:248700
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Depressed nasal bridg... ORPHA:2635
Retinitis Pigmentosa
Conductive hearing impairment, Sensorineural hearing impairment, Hypoplasia of penis, Optic atrophy ORPHA:791
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, High palate, Long ear, Foot oligodac... OMIM:276820
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ... ORPHA:363444
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Elevated circu... OMIM:101800
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate, Bilateral coxa valga, ... OMIM:615582
Emanuel Syndrome
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Dysphagia, Recurrent otitis media, H... ORPHA:96170
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Synophrys, Aplasia of the distal phalanx of the 5th fin... OMIM:608670
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Epispadias, Short palm, Large iliac wing, Bifid... ORPHA:2588
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Cardiofaciocutaneous Syndrome
Short neck, High palate, Biparietal narrowing, Thickened helices, Long philtrum, Low-set, posteri... ORPHA:1340
Microtia-Anotia
Anotia, Microtia OMIM:600674
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Hamartomatous polyposis, High palate, Hypothyroidism, Hy... OMIM:158350
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Sensorineural hearing impairment, Renal hypoplasia, Macrotia, Hearing impairment OMIM:616817
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Pulsatile tin... OMIM:168000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Micrognathia, Accelerated skeletal maturation, Short neck, Multiple joint dislocation... OMIM:245600
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Miscarriage, Aggressive behavior, Prominent crus of helix, Bilat... OMIM:619695
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Adenoiditis, Synophrys, Flexion contracture, Abnormal form of the v... ORPHA:581
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Orofaciodigital Syndrome Type 4
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... ORPHA:2753
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Female hypogonadism, Cholelithiasis, Decreased circulatin... OMIM:240300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Treacher Collins Syndrome 3
Micrognathia, Lower eyelid coloboma, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Co... OMIM:248390
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ... ORPHA:99050
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Thoracic kyphoscoliosis... ORPHA:313892
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Epicanthus, Posteriorly rotated ears, Macrocytic anemia, Micrognathia, ... OMIM:606164
Braddock Syndrome
Overfolded helix, Posteriorly rotated ears, Unilateral renal agenesis ORPHA:52047
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Descending aortic dissection, Small thenar eminence, Ascending aortic dissectio... OMIM:620080
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Cach Syndrome
Premature ovarian insufficiency, Optic atrophy, Nonketotic hyperglycinemia, Primary amenorrhea, S... ORPHA:135
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Finger clinodactyly, Shallow orbits, Depressed nasal bridge, Tapered finger, Cryptorchidism, Micr... OMIM:601353
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Limited elbow movement, Micrognathia, Proximal placement of thumb, Short neck, Syn... OMIM:610759
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, Synophrys, Hypertrophy of the urinary bladder, Large fles... ORPHA:280633
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:129900
Renal, Genital, And Middle Ear Anomalies
Renal hypoplasia/aplasia, Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Epicanthus, Limb joint contracture, Hearing impairment... OMIM:618186
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... OMIM:166250
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Restrictive Dermopathy 1
Ureteral duplication, Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long b... OMIM:275210
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Micrognathia, Abnormality of the gingiva, Osteopathia striata, Pineal cyst, Widely spaced teeth, ... ORPHA:513456
C Syndrome
Joint dislocation, Micrognathia, Short neck, High palate, Biparietal narrowing, Clinodactyly of t... ORPHA:1308
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cleft soft palate, Highly arched eyebrow, Hearing impairment, Micrognathia, Cryptorc... ORPHA:2282
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Bifid uvula,... OMIM:129400
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Micrognathia, Microcytic anemia, Protruding ear, Spren... ORPHA:293967
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Delayed skeletal maturation, Elevated circulating th... ORPHA:99832
Seckel Syndrome 7
Microcephaly, Prominent nose, Delayed skeletal maturation, Abnormal carpal morphology, Madelung d... OMIM:614851
Three M Syndrome 2
Short neck, Protruding ear, Pectus carinatum, High palate, Scapular winging, Lumbar hyperlordosis... OMIM:612921
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Synophrys, Deep philtrum, Protruding ear, Short philtrum, Joint contracture of the 5th finger, Pr... OMIM:620098
Buratti-Harel Syndrome
Epicanthus, Posteriorly rotated ears, Broad hallux, Hypospadias, Cryptorchidism, Velopharyngeal i... OMIM:619314
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Delayed skeletal maturat... OMIM:608154
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, Protruding ... OMIM:268305
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Prominent nasal bridge, Microcephaly, C... ORPHA:1110
Velocardiofacial Syndrome
Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot, Right aortic arch with mi... OMIM:192430
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, Pectus ca... ORPHA:958
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Hypogonadotropic hypogonadism, ... ORPHA:377
Cri-Du-Chat Syndrome
Short neck, Short metatarsal, Orofacial cleft, Downturned corners of mouth, High palate, Short ph... OMIM:123450
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Epicanthus, Wide nose, Anteverted nares, Everted upper lip vermilion, Craniosynostosis, Wide mout... OMIM:619056
Neu-Laxova Syndrome
Osteopenia, Cerebral calcification, Abnormal eyelid morphology, Micrognathia, Flexion contracture... ORPHA:2671
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Fle... OMIM:263650
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Epicanthus, Pericardial lymphangiectasia, Depressed nasal bridge, Irregular dentition... OMIM:616006
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin... OMIM:309620
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Campt... ORPHA:2604
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Bone pain, Pectus carina... ORPHA:955
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia OMIM:617862
Monosomy 18P
Epicanthus, Brachydactyly, Kyphoscoliosis, Micrognathia, Carious teeth, Microcephaly, Pectus exca... ORPHA:1598
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, Aplasia of the bladder, High palate, Narrow chest, Hypoplasia of the... OMIM:200980
Weiss-Kruszka Syndrome
Ptosis, Epicanthus, Prominent metopic ridge, Anteverted nares, Exaggerated cupid's bow, Hearing i... OMIM:618619
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Congenital Neuronal Ceroid Lipofuscinosis
Microcephaly, Split hand, Wide nasal bridge, Neuronal loss in the cerebral cortex, Aplasia/Hypopl... ORPHA:168486
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Delayed skeletal ... ORPHA:52
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf... ORPHA:99772
White-Kernohan Syndrome
Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Anteriorly placed anus, Hypothyroidi... OMIM:619426
Paganini-Miozzo Syndrome
Mandibular prognathia, Posteriorly rotated ears, Urinary incontinence, Downturned corners of mout... OMIM:301025
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti... ORPHA:79345
Mucopolysaccharidosis, Type Ix
Hyperextensibility at elbow, Acetabular erosions, Depressed nasal bridge, Submucous cleft hard pa... OMIM:601492
Gapo Syndrome
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral... ORPHA:2067
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... OMIM:617205
Distal Deletion 9P
Low-set, posteriorly rotated ears, Epicanthus, Hypospadias, Short neck, Abnormality of the dentit... ORPHA:1642
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Overfolded helix, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Holoprosencephaly
Hypoplasia of penis, Short neck, Abnormality of the spleen, Synophrys, Deep philtrum, Depressed n... ORPHA:2162
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Depressed nasal bridge, Thyroid defect in oxidation and orga... ORPHA:95716
Hennekam-Beemer Syndrome
Wide nose, Camptodactyly of finger, Mastocytosis, Micrognathia, Microcephaly, Long nose, Thick lo... ORPHA:2135
Craniometaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Mixed hearing impairment, Dental crowding, Facial palsy, Metaphyseal widen... OMIM:123000
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Menke-Hennekam Syndrome 1
Short ear, Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Protruding ea... OMIM:618332
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Wide nose, Microcephaly, Abnormality of cartilage of external ea... ORPHA:2399
Emanuel Syndrome
Recurrent urinary tract infections, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, ... OMIM:609029
Harrod Syndrome
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Microcephaly, Long nose, Cryptorchidis... ORPHA:2115
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Reduced bone mineral density, Pectus carinatum, Anteverted nares, ... ORPHA:582
Familial Expansile Osteolysis
Conductive hearing impairment, Hydroxyprolinuria OMIM:174810
Trisomy 17P
Hypoplasia of penis, Micrognathia, Short neck, Prominent nose, Flexion contracture, Orofacial cle... ORPHA:261290
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Renal hypoplasia/aplasia, Hand olig... ORPHA:1788
Coffin-Siris Syndrome 11
Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Esophageal ... OMIM:618779
Noonan Syndrome 4
Ureteral duplication, Short neck, Abnormal sternum morphology, Thickened helices, Depressed nasal... OMIM:610733
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Dental crowding, Micrognathia, Cleft hard palate, Short neck, Synophrys, Nephrocalcinosis, Clinod... OMIM:300990
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Sensorineural hearing impairment, Renal... ORPHA:85321
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:604292
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Optic atroph... OMIM:617595
15Q Overgrowth Syndrome
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... ORPHA:314585
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearin... ORPHA:217093
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Epicanthus, Posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Missing r... ORPHA:2759
Raine Syndrome
Mandibular prognathia, Cerebral calcification, Micrognathia, Short neck, Protruding ear, High pal... OMIM:259775
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short neck, Anteriorly placed an... ORPHA:247262
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Galloway-Mowat Syndrome
Abnormal intervertebral disk morphology, Proteinuria, Camptodactyly of finger, Hiatus hernia, Mic... ORPHA:2065
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Chromosome 8Q22.1 Duplication Syndrome
Laryngeal stenosis, Genu recurvatum, Short metatarsal, Short palm, Short phalanx of finger, Broad... OMIM:151200
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contracture, Cutaneous finger ... OMIM:114300
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Sandal gap, Hypospadias, Microcephaly, Micrognathia, Renal hypoplasia/aplasi... ORPHA:1046
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Telecanthus, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensorin... OMIM:109120
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Posteriorly rotated ears, Unilateral renal agenesis, Cryptorchidism, Low-set ears, Vesicoureteral... OMIM:619951
Abruzzo-Erickson Syndrome
Hypospadias, Coronal hypospadias, Sensorineural hearing impairment, Abnormal localization of kidn... ORPHA:921
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy OMIM:619690
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearin... ORPHA:217085
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Posteriorly rotated ears, Hypospadias, Depressed nasal bridge, Microgna... OMIM:603736
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Proximal placement of thumb, Micrognathia, Short neck, Anteriorly placed anus, Downturned corners... OMIM:217980
Superficial Siderosis
Vertigo, Functional abnormality of the bladder, Abnormality of the vestibulocochlear nerve, Abnor... ORPHA:247245
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyph... ORPHA:2976
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... OMIM:612290
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Sensorineural hearing impairment, Renal hypoplasia, Incomplete partition o... OMIM:617660
Melnick-Needles Syndrome
Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morp... ORPHA:2484
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... ORPHA:1896
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... OMIM:619702
Stankiewicz-Isidor Syndrome
Ureteral duplication, Sacral dimple, Hypospadias, Micrognathia, Absent thumb, Cryptorchidism, Sho... OMIM:617516
Hydrolethalus
Low-set, posteriorly rotated ears, Absent septum pellucidum, Micrognathia, Cryptorchidism, Postax... ORPHA:2189
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia ORPHA:93945
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Abnormal pinna morphology, Arachnodactyly, Depressed nasal bridge, ... OMIM:614437
Proximal 16P11.2 Microduplication Syndrome
Abnormal basal ganglia MRI signal intensity, Thin upper lip vermilion, Sparse eyelashes, Arachnod... ORPHA:370079
Braddock-Carey Syndrome 1
Anteriorly placed anus, Agenesis of corpus callosum, Multicystic kidney dysplasia, Anteverted nar... OMIM:619980
Meier-Gorlin Syndrome 2
Smooth philtrum, Abnormal pinna morphology, Microcephaly, Micrognathia, Underdeveloped nasal alae... OMIM:613800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Hypomandibular Faciocranial Dysostosis
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Patent du... ORPHA:1790
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Anteverted nares, Depressed nasal bridge, Malar flattening, Craniosynostosis, Choanal atresia, Cr... ORPHA:1555
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Shallow orbits, Conducti... OMIM:150250
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Anal stenosis, Neurogenic bladder, Block vertebrae, Abnormal odontoid process m... OMIM:613686
Aymé-Gripp Syndrome
Oligodontia, Shallow orbits, Clinodactyly of the 5th finger, Prominent metopic ridge, Depressed n... ORPHA:1272
Meckel Syndrome 12
Agenesis of cerebellar vermis, Anteverted nares, Rocker bottom foot, Ureteral hypoplasia, Microgn... OMIM:616258
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog... ORPHA:3266
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... OMIM:601812
Diamond-Blackfan Anemia
Pure red cell aplasia, Micrognathia, Short neck, Reticulocytopenia, Leukopenia, High palate, Trip... ORPHA:124
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Narrow chest, Depressed nasal bridge, Accessory oral frenulum, Supernu... OMIM:617088
Diaphanospondylodysostosis
Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Narrow pelvis bone, Enlar... ORPHA:66637
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Epicanthus, Depressed nasal bridge, Absent septum pellucidum, Microcephaly, C... OMIM:618500
Barber-Say Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... OMIM:209885
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Hypop... ORPHA:268261
Orofaciodigital Syndrome Type 14
Short neck, Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus callosum, Aplasi... ORPHA:434179
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig... OMIM:206920
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Glomerulopathy, Renal insufficiency, Sandal gap, Proteinuria, Malar promin... ORPHA:2715
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Telecanthus, Camptodactyly of finger, Supernumerary nipple, Microcephaly, ... ORPHA:1236
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... OMIM:151050
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality... ORPHA:163966
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Anteverted nares, Depresse... ORPHA:404440
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Micrognathia, Short neck, Hypoplasia of the thymus, Short philtrum, C... ORPHA:567
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Depressed nasal ri... ORPHA:99843
Meier-Gorlin Syndrome 7
Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi... OMIM:617063
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Vesicoureteral reflux, ... ORPHA:2363
Czeizel-Losonci Syndrome
Micrognathia, High palate, Spina bifida occulta, Prominent antitragus, Low-set, posteriorly rotat... ORPHA:2437
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... ORPHA:37553
Ayme-Gripp Syndrome
Mandibular prognathia, Depressed nasal bridge, Tapered finger, Wide nasal bridge, Microtia, Low-s... OMIM:601088
Zimmermann-Laband Syndrome
Micrognathia, Short neck, Large fleshy ears, Overtubulated long bones, High palate, Bifid uvula, ... ORPHA:3473
Multiple Pterygium-Malignant Hyperthermia Syndrome
Downturned corners of mouth, Conductive hearing impairment, Advanced eruption of teeth, Prominenc... ORPHA:2215
Neuhauser Syndrome
Osteopenia, Epicanthus, Genu recurvatum, Arachnodactyly, Depressed nasal bridge, Micrognathia, Mi... OMIM:249310
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... ORPHA:1225
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl... OMIM:156510
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormal repetitive mannerisms, Abnormal renal morphology, S... OMIM:182290
Dubowitz Syndrome
Aplastic anemia, Micrognathia, Protruding ear, High palate, Otitis media, Clinodactyly of the 5th... OMIM:223370
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Posteriorly rotated ears, Unilateral renal agenesis, Low-set ears, Overfolded helix OMIM:608980
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment, EEG with generalized epileptiform discharges OMIM:617976
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Thyroid Hypoplasia
Macroglossia, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Microcephaly, Hearing abno... ORPHA:1352
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Premature ovarian insufficiency, Unilateral renal agenesis, E... OMIM:613680
Hamamy Syndrome
Osteopenia, Micrognathia, Microcytic anemia, High palate, Clinodactyly of the 5th finger, Hypopar... OMIM:611174
Larsen-Like Syndrome
Joint dislocation, Joint laxity, Kyphoscoliosis, Wide anterior fontanel, Delayed skeletal maturat... OMIM:608545
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Anorexia, El... ORPHA:49041
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Micrognathia, Large fleshy ears, High palate, Vesicoureteral reflux, Long p... OMIM:614080
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Hypospadias, Low-set ears OMIM:616910
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Microdontia, Hypothyroidism, Accessory spleen, Depressed ... OMIM:620005
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate... OMIM:180849
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Short palm, Micropenis, Cong... OMIM:241410
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Epicanthus, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence,... OMIM:620183
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Micrognathia, Ectopic kidney, High, narrow palate, Synophrys, Short ... OMIM:122470
Distal Duplication 17Q
Micrognathia, Protruding ear, Pectus carinatum, High palate, Short philtrum, Vesicoureteral reflu... ORPHA:3379
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Proteinuria, E... ORPHA:276621
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Hemivertebrae, Abnormal sternum morphology, Vertebral fusion, Odontogenic ... OMIM:109400
Becker Nevus Syndrome
Supernumerary nipple, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus c... ORPHA:64755
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment ORPHA:3246
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Clinodactyly o... OMIM:181270
Treacher Collins Syndrome 4
Conductive hearing impairment OMIM:618939
Skraban-Deardorff Syndrome
Right aortic arch OMIM:617616
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Micrognathia, Short neck, Nep... OMIM:608022
Van Esch-O'Driscoll Syndrome
Protruding ear, Downturned corners of mouth, Shallow orbits, Clinodactyly of the 5th finger, Spin... OMIM:301030
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Thoracolumbar scoliosis, Choanal atresia, Short neck, Bilateral cryptor... OMIM:300472
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Bowing of the legs, Short neck, Flexion contracture, Narrow chest, Pterygium, Aniso... ORPHA:1865
Fragile X Syndrome
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand... OMIM:300624
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Postnatal macrocephaly, Microtia, Periventricular white matter hyperintensities OMIM:618158
Faundes-Banka Syndrome
Premature thelarche, Micrognathia, Lumbar hemivertebrae, Long ear, Conductive hearing impairment,... OMIM:619376
Tricuspid Atresia
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... ORPHA:1209
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Microcephaly, Pectus excavatum, Cryptorchidism, High, narrow pa... ORPHA:1439
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Low-set ears, Vesicoureteral reflux, Overfolded helix, Hydronephrosis OMIM:613735
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Orofaciodigital Syndrome Type 5
High, narrow palate, Agenesis of corpus callosum, Bifid uvula, Cleft soft palate, Accessory oral ... ORPHA:2919
Pontine Tegmental Cap Dysplasia
Facial palsy, Sensorineural hearing impairment, Hemivertebrae, Rib fusion, Ankle clonus, Hypoplas... OMIM:614688
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Micrognathia, Asplenia, Posterior rib fusion, Neonatal death, Hypospadias, Esophageal atresia, Pa... OMIM:265380
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Alg3-Cdg
Osteopenia, Cerebral white matter atrophy, Abnormal pinna morphology, Microcephaly, Abnormality o... ORPHA:79321
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Epicanthus, Joint hypermobility, Hype... OMIM:130000
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Micrognathia, Conical tooth, Eyelid coloboma, Supernumerary vertebrae... OMIM:263750
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Absent lacrimal punctum, Finger syndactyly, Sparse eyelashes, Abnormal... ORPHA:1071
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red muscle fibers,... ORPHA:17
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... OMIM:173800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Orofaciodigital Syndrome Type 1
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... ORPHA:2750
Stickler Syndrome, Type Ii
Arthropathy, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow... OMIM:604841
Kabuki Syndrome 2
Micrognathia, Protruding ear, High palate, Prominent fingertip pads, Joint laxity, Highly arched ... OMIM:300867
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Micrognathia, Short neck, Widely-spaced maxillary central incisors, H... OMIM:309580
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Low-set ears OMIM:618672
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Genu recurvatum, Anteverted nares, Open bite, Splenome... ORPHA:2969
Sanjad-Sakati Syndrome
Hypoparathyroidism, Low-set, posteriorly rotated ears, Intestinal obstruction, Hypoplasia of peni... ORPHA:2323
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Micrognathia, Short neck, Prominent nose, Partial agenesis of the c... OMIM:210710
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Hypogonadotropic hypogonadism, Fused cervical vertebrae ORPHA:238722
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... OMIM:216300
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Recurrent otitis media OMIM:616726
Monosomy 9Q22.3
Accelerated skeletal maturation, Short neck, Orofacial cleft, Long philtrum, Odontogenic keratocy... ORPHA:77301
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Microceph... OMIM:619680
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Choanal atresia, Prominent nasal bridge, Short neck, Pectus excavatum,... ORPHA:52055
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, Pectus excava... OMIM:300676
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... OMIM:253010
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Sensorineural hearing impairment, Rena... OMIM:616541
Trisomy 8Q
Hypoplasia of penis, Micrognathia, Short neck, Orofacial cleft, Protruding ear, Long thorax, High... ORPHA:1752
Peters-Plus Syndrome
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Micro... OMIM:261540
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise... ORPHA:84081
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Thoracic hypoplasia,... OMIM:224410
Atelosteogenesis, Type Ii
Cervical kyphosis, Micrognathia, Short neck, Increased intervertebral space, Death in infancy, Lu... OMIM:256050
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... ORPHA:2769
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Elevated circulating creatine kinase concentration, Unilateral renal agenesis, ... OMIM:614576
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... OMIM:224300
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney ORPHA:3109
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Marshall Syndrome
Cerebral calcification, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, High palate, Thi... ORPHA:560
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Low-set, posteriorly rotated ears, Microretrognathia, Epicanthus, Brachydactyly, Lacrimal duct st... ORPHA:457193
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Limitation of joint mobility, Bone pain, Osteoarthritis, Ec... ORPHA:2762
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Cerebral calcification, Short neck, Hypoplasia of the maxill... ORPHA:1798
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Micrognathia, Short neck, Short metatarsal, Renal cyst, High pa... OMIM:266920
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Attention ... OMIM:617914
Amish Lethal Microcephaly
Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Micrognathia, Mi... ORPHA:99742
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Pericallosal lipoma, Epicanthus, Brachydactyly, Sparse eyelash... ORPHA:306542
Axenfeld-Rieger Syndrome
Anal stenosis, Telecanthus, Hypospadias, Depressed nasal bridge, Hypoplasia of the maxilla, Wide ... ORPHA:782
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Lacrimoauriculodentodigital Syndrome 2
Absent lacrimal punctum, Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thu... OMIM:620192
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Microcephaly, Micrognathia... OMIM:608013
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Azoospermia, Renal dysplasia, Hearing impairment ORPHA:2578
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Recurrent fractures, Micrognathia, Short neck, Abnormality of ... ORPHA:1486
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Delayed skeletal maturation, Elevated circulating thyroid-stimulating hormone c... OMIM:218700
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Hypospadias, Unilateral renal ag... ORPHA:96121
Cartilage-Hair Hypoplasia
Accelerated skeletal maturation, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge,... ORPHA:175
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Broad skull, Short philtrum, Micropenis, Long toe, Absen... ORPHA:163979
Intellectual Developmental Disorder, Autosomal Dominant 2
Prominent fingertip pads, Cholesteatoma OMIM:614113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Pachygyri... OMIM:614643
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Walker-Warburg Syndrome
Hypoplasia of penis, Protruding ear, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Dandy-... ORPHA:899
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Renal insufficiency, Proteinuria, Ankle swelling, Micrognathia, Hypoplasia of the max... OMIM:166300
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Agenesis ... ORPHA:261323
Gorlin-Chaudhry-Moss Syndrome
Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality of the dentition, Patent ductu... ORPHA:2095
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Depressed nasal bridg... OMIM:108721
Mccune-Albright Syndrome
Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Hyperthyroidism, Osteomala... ORPHA:562
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Microcephaly-Micromelia Syndrome
Micrognathia, Short neck, Simplified gyral pattern, Narrow chest, Neonatal death, Short tibia, Hu... OMIM:251230
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... OMIM:613845
Trisomy 18
Pointed helix, Low-set, posteriorly rotated ears, Microretrognathia, Spina bifida, Abnormality of... ORPHA:3380
Schizophrenia 1
Partially duplicated kidney, Renal agenesis, Ectopic kidney, Protruding ear OMIM:181510
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short neck, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thy... OMIM:264090
Neurodevelopmental Disorder With Spasticity And Poor Growth
Epicanthus, Tented upper lip vermilion, Anteverted nares, Reduced cerebral white matter volume, P... OMIM:618076
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge, Micr... OMIM:222765
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Grant Syndrome
Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Abn... ORPHA:2097
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, Interrupted aortic... OMIM:267000
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Sensorineural hearing impairment, Renal agenesis ORPHA:2155
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Prominent nose, Bifid uvula, Dandy-Walker malformation, Joint laxity, Depressed nasal bridge, Tap... OMIM:300968
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Adnp Syndrome
Urinary incontinence, Abnormal finger morphology, Protruding ear, Advanced eruption of teeth, Joi... ORPHA:404448
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hallux valgus, Telecanthus, Cone-shaped epiphyses of the 3rd toe, Hypoplas... ORPHA:397973
Phaver Syndrome
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pteryg... ORPHA:2876
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Long nose, Downturned corners of mouth, High palate, Cl... OMIM:619522
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... ORPHA:249
Intellectual Developmental Disorder, Autosomal Dominant 58
Posteriorly rotated ears, Dental crowding, Protruding tongue, Microcephaly, Broad nasal tip, Subm... OMIM:618106
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... OMIM:234100
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hip dysplasia... ORPHA:195
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death in childhood OMIM:604273
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment OMIM:618497
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Supernumerary nipple, Pyloric stenosis, Wid... ORPHA:457279
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... OMIM:166200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Synophrys, Subcortical cerebral atrophy, Abnormal thymus morphology, High palate, Lum... ORPHA:2463
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N... OMIM:269860
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Synophrys, Abnormal tibia morphology, Deep philtrum, Downturned corners... ORPHA:251014
Microphthalmia, Syndromic 2
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Lat... OMIM:300166
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger... OMIM:101400
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Death in childhood, Dysphagia, Macrotia, Abnormal repetiti... DECIPHER:45
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Hyperactivity, Abnormal head movements, Aggressive behavior ORPHA:382
Lacrimoauriculodentodigital Syndrome 3
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Carious teeth, Short thumb, Cupped ear, Xe... OMIM:620193
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibil... OMIM:166220
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Meningeal calcification, Clinodactyly ... OMIM:154780
Charge Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Hem... OMIM:214800
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Hearing impairment, Elevated circ... OMIM:274300
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Premature coronary artery atherosclerosis, Stroke-like episode, Right aortic... OMIM:300845
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebellar vermis hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Short philt... OMIM:618454
Mosaic Trisomy 9
Hypoplasia of penis, Micrognathia, Asplenia, Short neck, Hemivertebrae, Finger clinodactyly, High... ORPHA:99776
Atelosteogenesis Type I
Joint dislocation, Laryngeal stenosis, Micrognathia, Narrow chest, Absent or minimally ossified v... ORPHA:1190
Fibrochondrogenesis
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Short ne... ORPHA:2021
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Deep philtrum, Renal cyst, Nephrocalcinosis, Downturned corners of mouth, High palate... OMIM:615398
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Kinsship Syndrome
Mandibular prognathia, Osteopenia, Micrognathia, Short neck, Synophrys, Downturned corners of mou... OMIM:619297
Kagami-Ogata Syndrome
Pursed lips, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Coxa valga, ... ORPHA:254519
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Native American Myopathy
Joint laxity, Progressive congenital scoliosis, Submucous cleft soft palate, Micrognathia, Crypto... ORPHA:168572
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Conductive hearing impairment OMIM:132450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Skin Creases, Congenital Symmetric Circumferential, 1
Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Microcephaly, Long fi... OMIM:156610
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia... ORPHA:97362
Chromosome 6Q24-Q25 Deletion Syndrome
Hooded eyelid, High, narrow palate, Anteriorly placed anus, High palate, Prominent fingertip pads... OMIM:612863
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Cryptorchidism, Optic atro... ORPHA:90321
Intellectual Developmental Disorder, Autosomal Dominant 53
Epicanthus, Short femur, Intestinal malrotation, Microcephaly, Cryptorchidism, Thick corpus callo... OMIM:617798
Mucopolysaccharidosis Type 2
Irregularity of vertebral bodies, Conductive hearing impairment, Papilledema, Temporomandibular j... ORPHA:580
Baraitser-Winter Cerebrofrontofacial Syndrome
Micrognathia, Short neck, Prominent nose, Long nose, Subcortical cerebral atrophy, Pachygyria, Pr... ORPHA:2995
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormal pinna morphology, Renal hypoplasia ORPHA:75389
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Triphalangeal thumb, Conductive hearing impairment, Vesicoureteral... ORPHA:959
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... ORPHA:2878
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
8P11.2 Deletion Syndrome
Hemolytic anemia, Epicanthus, Hypoplasia of penis, Hypogonadotropic hypogonadism, Sacral dimple, ... ORPHA:251066
Otodental Syndrome
High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Anteverted nares, Abn... ORPHA:2791
Meacham Syndrome
Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Partial anomalous pulmonary venous ... OMIM:608978
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Osteoporosis, Ps... OMIM:612463
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly OMIM:614846
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Low-set ears, Vesicoureteral reflux ORPHA:2470
Intellectual Developmental Disorder, Autosomal Recessive 69
Microcephaly, Cerebellar hypoplasia, Hyperplasia of the maxilla OMIM:618383
Gorham-Stout Disease
Osteopenia, Abnormality of the cervical spine, Abnormality of the temporomandibular joint, Osteom... ORPHA:73
Developmental And Epileptic Encephalopathy 89
Flexion contracture, Narrow chest, Death in childhood, Neonatal death, Long philtrum, Microretrog... OMIM:619124
Isolated Childhood Apraxia Of Speech
Caudate atrophy, High, narrow palate, Submucous cleft hard palate, Abnormal caudate nucleus morph... ORPHA:209908
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Syndactyly, Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nas... OMIM:618505
Meckel Syndrome, Type 1
Occipital encephalocele, Adrenal hypoplasia, Micrognathia, Asplenia, Short neck, Clinodactyly, Lo... OMIM:249000
Ascher Syndrome
Ptosis, Wide nose, Abnormal eyelid morphology, Upper eyelid edema, Deviation of finger, Abnormal ... ORPHA:1253
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Sensorineural hearing impairment, Premature ovarian insufficiency, Elevated circulating creatine ... OMIM:619518
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Low-set ears, Protruding ear OMIM:616603
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla... OMIM:620099
Oculopharyngodistal Myopathy 3
Conductive hearing impairment, Sensorineural hearing impairment OMIM:619473
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Basal ganglia ca... OMIM:103580
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment OMIM:615706
Floating-Harbor Syndrome
Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, ... ORPHA:2044
Fryns Syndrome
Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Proximal placement o... OMIM:229850
Orofaciodigital Syndrome Type 2
Micrognathia, Protruding ear, Finger clinodactyly, High palate, Conductive hearing impairment, Sh... ORPHA:2751
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Protruding tongue, Short neck, Cryptorchidism, Sensorineural hearing impairment... OMIM:612938
Takenouchi-Kosaki Syndrome
Hypospadias, Posteriorly rotated ears, Unilateral renal agenesis, Cryptorchidism, Sensorineural h... OMIM:616737
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... ORPHA:251004
Ramon Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:3019
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Synoph... OMIM:620369
Cranioectodermal Dysplasia 2
Unilateral ptosis, Micrognathia, Short neck, Renal cyst, Fused teeth, High palate, Narrow chest, ... OMIM:613610
Transketolase Deficiency
Increased level of ribose in urine, Hearing impairment, Renal cyst, Secondary amenorrhea, Self-in... ORPHA:488618
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Den... OMIM:608940
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Telecanthus, Abnormal pinna morphology, Symblepharon, Broad femoral neck, Short neck,... ORPHA:488434
Mungan Syndrome
Abnormality of the autonomic nervous system, Vesicoureteral reflux, Renal hypoplasia OMIM:611376
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo ORPHA:71518
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Abno... ORPHA:2975
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Recurrent urinary tract infections, Short neck, Cleft upp... OMIM:244600
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the ... ORPHA:818
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Cryptorchidism, Hypsarrhythmia, Neonatal death, Hearing impairment OMIM:620024
Generalized Arterial Calcification Of Infancy
Cerebral calcification, Adrenal calcification, Abnormal calcification of the carpal bones, Nephro... ORPHA:51608
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Microcephaly, Cryptorchidism, Postaxial ... ORPHA:2075
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilat... ORPHA:468631
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Telecanthus, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Crypto... OMIM:601499
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Short neck, High... OMIM:309583
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Camptodactyly of finger, Microcephaly, Tapered finger, High, narrow palate, Sh... ORPHA:3201
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Glue ear, Absence of renal corticomedullary differentiation, Renal hypoplasia, Low-set ears, Recu... OMIM:619758
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Abnormal renal morphology, EEG abnormality, Hypocholest... OMIM:610883
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Abnormal E... ORPHA:199302
Stuve-Wiedemann Syndrome 1
Enlarged joints, Micrognathia, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowin... OMIM:601559
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Abnorma... ORPHA:3455
Peters Plus Syndrome
Ureteral duplication, Micrognathia, Short neck, Widely spaced teeth, Clinodactyly of the 5th fing... ORPHA:709
Juberg-Hayward Syndrome
Abnormal finger morphology, Orofacial cleft, Anteriorly placed anus, Abnormality of the wrist, Ab... ORPHA:2319
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Microcephaly, Pate... OMIM:301043
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ... ORPHA:2237
Kallmann Syndrome With Spastic Paraplegia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Micropenis, Testicular ... OMIM:308750
Tolchin-Le Caignec Syndrome
Abnormal vestibular function, Thick eyebrow, Hooded eyelid, Arachnodactyly, Micrognathia, Precoci... OMIM:618971
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Basal ganglia ca... OMIM:612462
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Osteopenia, Hip contracture, Bowing of the long bones, Hyperphosphaturia, Cho... OMIM:156400
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Broad skull, Short metatarsal, High palate, Shallow orbits, Thickened ... OMIM:608328
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Recurrent fractures, Microcephaly, Crypto... ORPHA:2772
Primrose Syndrome
Cerebral calcification, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Flexion c... OMIM:259050
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Proteinuria, E... ORPHA:29072
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Restrictive Dermopathy
Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Decreased skull ossi... ORPHA:1662
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Protruding... ORPHA:464311
Oculodentodigital Dysplasia
Selective tooth agenesis, Basal ganglia calcification, High palate, Joint contracture of the 5th ... OMIM:164200
Silver-Russell Syndrome 1
Syndactyly, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, M... OMIM:180860
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Facial palsy, Microcephaly, Hyperlordosis, Kyphosis, Achille... OMIM:606612
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corner... ORPHA:352665
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:277440
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Ureteral duplication, Accelerated skeletal maturation, Vesicoureteral refl... ORPHA:116
Fanconi Anemia, Complementation Group F
Sacral dimple, Decreased response to growth hormone stimulation test, Microcephaly, Absent thumb,... OMIM:603467
Witteveen-Kolk Syndrome
Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Proximal place... OMIM:613406
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral ref... OMIM:616894
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Vertigo, Elevated urinary dopamine level, Elevated circulating creatinin... ORPHA:230
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Congenital hip dislocation, Anterior concavity of thoracic vertebra... OMIM:216340
Tarp Syndrome
Extramedullary hematopoiesis, Micrognathia, Glossoptosis, Small earlobe, Low-set, posteriorly rot... ORPHA:2886
Otosclerosis 10
Otosclerosis OMIM:615589
Coach Syndrome 1
Optic disc pallor, Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chron... OMIM:216360
Fetal Akinesia Deformation Sequence 1
Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa... OMIM:208150
Prolidase Deficiency
Recurrent cystitis, Arachnodactyly, Depressed nasal bridge, Micrognathia, Carious teeth, Splenome... ORPHA:742
Orofaciodigital Syndrome Type 10
Telecanthus, Depressed nasal bridge, Cleft soft palate, Tarsal synostosis, Micrognathia, Duplicat... ORPHA:2756
Meckel Syndrome, Type 10
Occipital encephalocele, Epicanthus, Sacral dimple, Abnormal pinna morphology, Hypospadias, Posta... OMIM:614175
Parietal Foramina With Cleidocranial Dysplasia
Widely patent fontanelles and sutures, Microtia, Short clavicles, Macrocephaly OMIM:168550
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder OMIM:601389
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormal rib morphology, Slender long bone, Abnormal pelvic gi... ORPHA:1506
Bardet-Biedl Syndrome 3
Renal hypoplasia OMIM:600151
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus, Aplasia of ... OMIM:600001
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee... OMIM:617402
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Synophrys, Broad ribs, Broad metacarpals, Depressed nasal bridge, Tapered finger, Precocious pube... OMIM:301066
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal c... ORPHA:464306
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Narrow chest, Radial bowing, Depressed nasal bridge, Dumbbell-shaped long bone, Flat ... OMIM:151210
White Forelock With Malformations
Low-set, posteriorly rotated ears, Finger syndactyly, Epicanthus, Delayed skeletal maturation, De... ORPHA:2475
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Renal cyst, Nephrocalc... ORPHA:369837
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... OMIM:600795
Baker-Gordon Syndrome
EEG abnormality, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoospermia, Micropenis... OMIM:308700
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity OMIM:616166
Stickler Syndrome
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Depressed ... ORPHA:828
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Thyrocerebrorenal Syndrome
Renal insufficiency, Sensorineural hearing impairment, Euthyroid goiter, Nephritis, Thrombocytopenia ORPHA:3327
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Protruding ear, ... OMIM:303600
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Interrupted aortic arch ORPHA:250989
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Bangstad Syndrome
Pancytopenia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Retrognathia, C... OMIM:210740
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate,... ORPHA:453499
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Campomelic Dysplasia
Micrognathia, Short neck, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,... ORPHA:140
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Joint stiffness, Ec... ORPHA:3027
Achondrogenesis Type 1B
Anteverted nares, Abnormal enchondral ossification, Micrognathia, Short neck, Short thorax, Abnor... ORPHA:93298
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Long fingers, Protruding ear, Fac... ORPHA:169186
Toriello-Lacassie-Droste Syndrome
Epispadias, Abnormality of the ear, Eyelid coloboma, Short palm, Limbal dermoid, Agenesis of corp... ORPHA:3339
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Ureteral duplication, Telecanthus, Recurrent urinary tract infections,... ORPHA:2036
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Pectus carinatum,... OMIM:619472
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Sacral dim... ORPHA:2438
Prune Belly Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Multicystic kid... ORPHA:2970
Aspartylglucosaminuria
Mandibular prognathia, Pectus carinatum, Anterior beaking of lumbar vertebrae, Chronic otitis med... ORPHA:93
Hogue-Janssen Syndrome 2
Unilateral renal agenesis OMIM:616362
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Teebi-Shaltout Syndrome
High, narrow palate, Pectus carinatum, Oligodontia, Small earlobe, Prominent palatine ridges, Cau... OMIM:272950
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Urinary incontinence, Uplif... ORPHA:261537
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Joint stiffness, Micrognathia, Missing ribs, Late... ORPHA:1801
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, S... ORPHA:583
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Oral ulcer, Pectus carinatum, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Ne... OMIM:612541
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... ORPHA:534
Microcephalic Primordial Dwarfism, Toriello Type
Microcephaly, Delayed skeletal maturation, Abnormal rib morphology, Downturned corners of mouth, ... ORPHA:2643
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cryptorchidism, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears... ORPHA:352490
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Protruding ear, Low-set ear... OMIM:618342
Sclerosteosis 1
Mandibular prognathia, Papilledema, Syndactyly, Depressed nasal bridge, Facial palsy, Sclerotic s... OMIM:269500
Alg9-Cdg
Villous atrophy, Micrognathia, Short neck, Large fleshy ears, Narrow greater sciatic notch, Abnor... ORPHA:79328
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Protrusio acetabuli, Micrognathia, Multiple prenatal fractures, Severe gener... OMIM:259420
Orofaciodigital Syndrome V
Unilateral ptosis, Lobulated tongue, High palate, Agenesis of corpus callosum, Bifid uvula, Hamar... OMIM:174300
Dentici-Novelli Neurodevelopmental Syndrome
Macrotia, Abnormal repetitive mannerisms, Hypsarrhythmia, Hearing impairment OMIM:619877
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic ... ORPHA:1512
Mowat-Wilson Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Urinary incontinence, Uplif... ORPHA:2152
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Microcephaly, Abnormal thorax morphology, Small hand, Scoli... ORPHA:1445
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Distal Deletion 19P
Low-set, posteriorly rotated ears, Long toe, Arachnodactyly, Hypoplasia of the maxilla, Sensorine... ORPHA:96129
Bazex-Dupré-Christol Syndrome
Abnormal clavicle morphology, Sparse eyebrow, Abnormal finger morphology, Sparse or absent eyelas... ORPHA:113
Fanconi Anemia
Abnormal eyelid morphology, Micrognathia, Abnormal femur morphology, Reduced bone mineral density... ORPHA:84
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia OMIM:276950
Bangstad Syndrome
Microcephaly, Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemi... ORPHA:1227
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Neutrophilia, Splenomegaly, Osteolysis, Fused cervical vertebrae, Join... OMIM:612852
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
3Mc Syndrome 1
Conjunctival telangiectasia, Dental crowding, Synophrys, Epicanthus inversus, Clinodactyly of the... OMIM:257920
Hartsfield Syndrome
Syndactyly, Epicanthus, Wide nose, Posteriorly rotated ears, Hypospadias, Craniosynostosis, Micro... OMIM:615465
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Urinary incontinence, Uplif... ORPHA:261552
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability, Microcephaly OMIM:251250
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Accelerated skeletal maturation, Thoracolumbar kyphosis, Short neck, Flexion cont... OMIM:253220
Osteopetrosis With Renal Tubular Acidosis
Cerebral calcification, Micrognathia, Basal ganglia calcification, Cranial nerve compression, Leu... ORPHA:2785
Microcephalic Primordial Dwarfism, Dauber Type
Subglottic stenosis, Microcephaly, Prominent nose, Delayed skeletal maturation, Abnormal carpal m... ORPHA:319675
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist... ORPHA:1647
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney OMIM:266810
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla... OMIM:252940
Down Syndrome
Short palm, Hypoplastic iliac wing, Conductive hearing impairment, Hypothyroidism, Joint laxity, ... OMIM:190685
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping of proximal phalanges, Depressed na... OMIM:300863
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short meta... OMIM:619636
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ... OMIM:277170
Drug-Induced Lupus Erythematosus
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... ORPHA:231111
Encephalocraniocutaneous Lipomatosis
Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta ORPHA:2396
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Shallow orbits, Short phalanx... OMIM:258480
Gaucher Disease, Type Ii
Double aortic arch OMIM:230900
Aortic Valve Disease 3
Aortic root aneurysm, Ascending aortic dissection OMIM:618496
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Low-set ears, Neonatal dea... OMIM:601186
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Telecanthus, Brachydactyly, Hypogonadotropic hypogonadism, Hypoplasia o... ORPHA:1295
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Joint dislocation, Thoracic scoliosis, Micrognathia, Equinus calcaneus, Knee dislocat... ORPHA:536532
Limb-Mammary Syndrome
Cleft hard palate, Protruding ear, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uv... ORPHA:69085
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Bowing of the legs, Beaded ribs, Abnormal hand bone ossif... OMIM:200600
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Abnormal nerve conduction velocity, Abnormal vertebral ... ORPHA:93473
Pfeiffer Syndrome
Mandibular prognathia, Ptosis, Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Wide ... ORPHA:710
Fetal Iodine Deficiency Disorder
Congenital goiter, Hearing impairment, Congenital hypothyroidism OMIM:228355
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Microretrognathia, Angulated humerus, Wormian bones, Bowing of the long bones, Recurr... OMIM:616229
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Chronic otitis media OMIM:618063
Neuroocular Syndrome
Hyperextensibility of the finger joints, Genu recurvatum, Synophrys, Downturned corners of mouth,... OMIM:619539
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Osteopenia, Thickened ribs, Short neck, Oligosacchariduria, Pectus carinat... ORPHA:309282
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Epicanthus, Absent nipple, Congenital hip dislocation, Depressed nasal bridge, Cubitu... OMIM:104350
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Nephritis, Thrombocytopenia, Goiter OMIM:274240
Rhyns Syndrome
Renal insufficiency, Sensorineural hearing impairment, Chronic kidney disease, Nephronophthisis, ... OMIM:602152
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Hypospadias, Microcephaly, Abnormal... ORPHA:209905
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Hypospadias, Female infertility, Crypt... ORPHA:261529
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Dental crowding, Short neck, Rectal prolapse, Short metatarsal, High palate, Short metacarpal, An... OMIM:617157
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Inappropriate laughter, Thickened helices, Macrotia, Ab... OMIM:614104
Alopecia Antibody Deficiency
Conductive hearing impairment ORPHA:1006
Neurooculorenal Syndrome
Hypoplasia of the bladder, Mixed hearing impairment, Unilateral renal agenesis, Conjugated hyperb... OMIM:620305
Kyphomelic Dysplasia
Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short metacarpal, ... OMIM:211350
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin... OMIM:617602
Achondrogenesis Type 1A
Short palm, Multiple rib fractures, Anteverted nares, Recurrent fractures, Abnormal enchondral os... ORPHA:93299
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ... ORPHA:2521
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Hypo... OMIM:269150
Orthostatic Hypotension 1
Orthostatic hypotension, Increased blood urea nitrogen, Retrograde ejaculation, Hypomagnesemia, N... OMIM:223360
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Downturned corners of mouth, High palate, Conductive hearing impair... OMIM:605627
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia, Lacrimal duct atresia ORPHA:139450
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Recurrent fractures, Chronic noninfectious lymphadenopathy, Bone pa... ORPHA:319487
Smith-Lemli-Opitz Syndrome
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Self-mutilation, Penoscrotal hyposp... OMIM:270400
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Microcephaly ORPHA:2435
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment ORPHA:1997
Pseudohypoparathyroidism Type 1A
Cerebral calcification, Decreased response to growth hormone stimulation test, Reduced circulatin... ORPHA:79443
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality ... OMIM:607634
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear,... OMIM:147920
Kallmann Syndrome-Heart Disease Syndrome
Right aortic arch, Pulmonary artery hypoplasia, Double outlet right ventricle, Anomalous origin o... ORPHA:2326
Christianson Syndrome
Death in early adulthood, Inappropriate laughter, Dysphagia, Macrotia, Abnormal repetitive manner... ORPHA:85278
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Supernumerary tooth, Postaxial hand polydactyly, Bulbous nose, Tongue... OMIM:258850
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu... ORPHA:2167
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Abnormal thorax morphology, Hypoplasia of the thymus, Death in chil... OMIM:200900
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Renal... ORPHA:97290
Vacterl/Vater Association
Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Ectopic ki... ORPHA:887
Dyskeratosis Congenita
Cerebral calcification, Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Ava... ORPHA:1775
Congenital Tracheomalacia
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Right aortic arch, Abnormal ... ORPHA:95430
Hydroxykynureninuria
Renal tubular acidosis, Congenital sensorineural hearing impairment, Abnormal repetitive manneris... ORPHA:79155
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Short dista... ORPHA:2776
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Abnormal ... ORPHA:411986
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Macrotia, Abnormal repetitiv... ORPHA:391307
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... OMIM:223800
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... OMIM:618917
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolithiasis, Renal cyst,... ORPHA:18
Full Schwannomatosis
Bilateral vestibular schwannoma, Schwannoma, Peripheral schwannoma, Tinnitus, Hearing impairment ORPHA:93921
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Low-set ears OMIM:601163
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Convex nasal ridge, Micrognathia, Ost... ORPHA:666
Leopard Syndrome 1
Posteriorly rotated ears, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Sensorineural h... OMIM:151100
Cowden Syndrome
Hamartomatous polyposis, High palate, Conjunctival hamartoma, Abnormal penis morphology, Follicul... ORPHA:201
Pseudotrisomy 13 Syndrome
Posteriorly rotated ears, Renal agenesis, Cryptorchidism, Renal hypoplasia, Low-set ears, Micropenis OMIM:264480
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Thin clavicles, ... ORPHA:93324
Catel-Manzke Syndrome
Joint dislocation, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High palate, Clinoda... OMIM:616145
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Platyspondyly, Oli... OMIM:601216
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Short tubular... ORPHA:85184
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia, Protruding ear OMIM:617468
Oculoskeletodental Syndrome
Conductive hearing impairment, Nephrocalcinosis, Sensorineural hearing impairment, Hearing impair... ORPHA:557003
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint dislocation, Genu recurvatum, Micrognathia, Accelerated skeletal maturation, Fl... OMIM:130070
Cockayne Syndrome Type 3
Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesi... ORPHA:90324
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ... OMIM:183900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoac... OMIM:617913
Feingold Syndrome Type 1
Patent ductus arteriosus, Interrupted aortic arch ORPHA:391641
Penoscrotal Transposition
Renal dysplasia, Epicanthus, Renal agenesis, Hypospadias, Micrognathia, Abnormality of the urethr... ORPHA:2842
Ablepharon-Macrostomia Syndrome
Anteriorly placed anus, Cutaneous finger syndactyly, Clinodactyly of the 5th finger, Micropenis, ... OMIM:200110
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Femoral bowing, Narrow chest, Anteverted nares, Depressed nasal ... OMIM:618188
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Sensorineural hearing impairment, Dental malocclusion, Abnormal pelvic ... OMIM:144750
Coffin-Siris Syndrome 1
Ectopic kidney, Conical tooth, Partial agenesis of the corpus callosum, Prominent interphalangeal... OMIM:135900
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... OMIM:304120
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Fibrochondrogenesis 2
Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w... OMIM:614524
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma OMIM:162260
Ring Chromosome 7 Syndrome
Unilateral ptosis, Mandibular prognathia, Short philtrum, Clinodactyly of the 5th finger, Small e... ORPHA:1449
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Micrognathia, 2-3 toe cutaneous syndactyly, Protruding ear, Downturned corners of mout... OMIM:614756
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... OMIM:149730
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Microcephaly, Micrognathia, Multinodular goiter, Multiple enchondromato... OMIM:620189
Orofaciodigital Syndrome I
Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia... OMIM:311200
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S... OMIM:119600
Renpenning Syndrome 1
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Death in childh... OMIM:309500
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, High palate... OMIM:268300
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Chronic gastritis, Osteopenia, Micrognathia, Bilateral cryptorchidism, Pro... OMIM:150230
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal ... OMIM:617695
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Sensorineural hearin... OMIM:609616
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms OMIM:617393
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Stromme Syndrome
Accessory spleen, Cerebellar vermis hypoplasia, Jejunal atresia, Intestinal malrotation, Optic ne... OMIM:243605
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus, Transpositi... ORPHA:2255
Episodic Ataxia Type 4
Abnormal head movements, Vertigo ORPHA:79136
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the kidney, Decreased serum iron, Repetitive compulsive behavior, Abnormality of t... ORPHA:391372
Double Outlet Right Ventricle
Hypoparathyroidism, Depressed nasal bridge, Intestinal malrotation, Abnormality of cartilage of e... ORPHA:3426
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Congenital sensorineural hearing impairment, Mixed hearing impairment ORPHA:2698
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Abnormal re... OMIM:618347
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... ORPHA:50814
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Depressed nasal bridge, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating... ORPHA:226313
Chondrodysplasia Punctata 2, X-Linked Dominant
Short neck, Hemivertebrae, Dandy-Walker malformation, Sparse eyebrow, Abnormal thorax morphology,... OMIM:302960
Periventricular Nodular Heterotopia 9
Epicanthus, Prominent metopic ridge, Posteriorly rotated ears, Everted upper lip vermilion, Micro... OMIM:618918
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-injurious behavior, Sk... OMIM:600430
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Hypospadias, Glomerulonephritis, Proteinuria, Hypsarrh... OMIM:619428
W Syndrome
Hypoplasia of the ulna, Telecanthus, Radial bowing, Depressed nasal bridge, Broad nasal tip, Elbo... ORPHA:2804
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... OMIM:309350
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Epicanthus, Pancytopenia, Homocystinuria, Megaloblastic anemia, Cystath... OMIM:277380
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Overfolded helix, Abnormal repetitive mannerisms, Low-set ears OMIM:619092
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Pectus ... ORPHA:2911
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Bilateral cryptorchidism... OMIM:619859
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Xerostomia, Gingivitis, Finger syndactyly, Open bite, Abnormal rib mo... ORPHA:2907
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Micrognathia, Downturned corners of mouth, Aminoaciduria, Short philtrum, ... ORPHA:85276
Benign Schwannoma
Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwannoma, Abnormality of the... ORPHA:252164
Mowat-Wilson Syndrome
Uplifted earlobe, Large basal ganglia, Pectus carinatum, Widely spaced teeth, Agenesis of corpus ... OMIM:235730
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Hearing impairment OMIM:616733
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Hypoplasia of the maxilla, Urinary urgency, Urinary bladder sphincter dysfu... OMIM:300266
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sensorineural hearing impairment, Renal hypoplasia, Renal cyst, Dysphagia, ... OMIM:618460
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Micropenis, Macrotia, Abnormal repetitive mannerisms, Decreased testicular size ORPHA:457240
Deafness, Autosomal Recessive 88
Mixed hearing impairment OMIM:615429
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Epispadias, Conical incisor, Narrow chest, Microdontia, Synostos... ORPHA:289
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... OMIM:610338
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Gillessen-Kaesbach-Nishimura Syndrome
Posteriorly rotated ears, Wide anterior fontanel, Abnormal lung lobation, Large fleshy ears, Pulm... OMIM:263210
Lopes-Maciel-Rodan Syndrome
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism OMIM:617435
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit... ORPHA:79284
Craniolenticulosutural Dysplasia
Osteopenia, High palate, Narrow chest, Bifid uvula, Long philtrum, Joint laxity, Anteverted nares... OMIM:607812
Williams Syndrome
Osteopenia, Hypoplasia of penis, Micrognathia, Rectal prolapse, Abnormal tubulointerstitial morph... ORPHA:904
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydac... OMIM:617895
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Geroderma Osteodysplasticum
Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Hypoplasia of the max... OMIM:231070
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of... ORPHA:857
Craniometaphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Optic atrophy, Facial palsy OMIM:218400
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, ... ORPHA:556955
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Prominent nose, High, narrow palate, Pineal cyst, Increased head circumference, ... OMIM:300967
Tenosynovial Giant Cell Tumor
Conductive hearing impairment, Abnormality of the tympanic membrane, Abnormality of the auditory ... ORPHA:66627
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short meta... OMIM:305600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Myoectodermal Gonadal Dysgenesis Syndrome
Posteriorly rotated ears, Unilateral renal agenesis, Sensorineural hearing impairment, Low-set ea... OMIM:618419
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Knee flexion contracture, High palate, Agenesis of corpus callosum, Long to... OMIM:608836
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Anteverted nares, Short neck, S... ORPHA:884
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, Hypothyroidism, 2-4 finger syndacty... OMIM:107480
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Partial anomalous pulmonary venous ret... OMIM:618280
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... ORPHA:363558
Ocular Motor Apraxia
Jerky head movements, Nephronophthisis OMIM:257550
Proteus Syndrome
Neoplasm of the thymus, Abnormal finger morphology, Renal cyst, Abnormal form of the vertebral bo... ORPHA:744
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Crypt... ORPHA:500159
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, EEG with focal spikes, Attention deficit hyperactivity... ORPHA:98784
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Hypospadias, Sensorineural hearing impairment, Low-set ears, Recurrent otitis medi... OMIM:617751
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Trichohepatoenteric Syndrome 1
Villous atrophy, Wide nose, Hypospadias, Anteverted nares, Increased mean platelet volume, Avascu... OMIM:222470
Craniosynostosis 2
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi... OMIM:604757
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment ORPHA:3238
Ulbright-Hodes Syndrome
Maternal diabetes, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomel... ORPHA:3404
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Joint laxity, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, High, ... OMIM:162300
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear cartilage, Mast... ORPHA:66661
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Cryptorchidism, Optic disc coloboma, Protruding ear, Abnormal antiheli... ORPHA:261337
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis, Anterior open-bite malocclusion, Abnormal cerebral white matter m... ORPHA:83601
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Downslanted palpebral fissures, Broad thumb,... OMIM:614526
Fontaine Progeroid Syndrome
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Synophrys... OMIM:612289
Septopreoptic Holoprosencephaly
Megalencephaly, Precocious puberty, Hypoplasia of the pons, Microcephaly, Perisylvian polymicrogy... ORPHA:280195
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Aganglionic megacolon, Chronic kidney dis... ORPHA:261222
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Optic nerve hypoplasia, Unilateral renal agenesis, Protruding... ORPHA:221139
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Tetrasomy 9P
Joint dislocation, Glue ear, Dental crowding, Micrognathia, Short neck, Downturned corners of mou... ORPHA:3310
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Hereditary Orotic Aciduria
Low-set, posteriorly rotated ears, Orotic acid crystalluria, Splenomegaly, Patent ductus arterios... ORPHA:30
X-Linked Hypophosphatemia
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... OMIM:241310
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... OMIM:618027
Pseudohypoparathyroidism Type 1C
Cerebral calcification, Decreased response to growth hormone stimulation test, Reduced circulatin... ORPHA:79444
Foxg1 Syndrome
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism ORPHA:561854
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Microtia, Recurrent upper respiratory tract infections OMIM:620137
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... ORPHA:397612
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Patent ductus arteriosus,... ORPHA:980
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Renal hypoplasia OMIM:619053
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Accessory oral frenulum, Hypoplasia of the maxilla, Conical tooth, Diastem... OMIM:619142
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad s... OMIM:277600
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Primary amenorrhea OMIM:158330
Jeune Syndrome
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Postaxial hand polydactyly, Sh... ORPHA:474
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... ORPHA:1120
Arterial Tortuosity Syndrome
Joint laxity, Arachnodactyly, Convex nasal ridge, Malar flattening, Micrognathia, Hiatus hernia, ... OMIM:208050
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Azoospermia, Infertility, At... ORPHA:10
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... OMIM:223900
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment ORPHA:1861
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thum... ORPHA:2091
Neu-Laxova Syndrome 1
Micrognathia, Short neck, Swollen lip, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal ... OMIM:256520
Maffucci Syndrome
Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary... ORPHA:163634
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... OMIM:616294
Hardikar Syndrome
Vesicoureteral reflux, Bladder exstrophy, Cleft soft palate, Thoracolumbar scoliosis, Vertigo, Pa... OMIM:301068
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micrognathia, Generalized joint laxity, Tibial bowing, Narrow che... OMIM:613848
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia, Low-set ears OMIM:618975
Marshall-Smith Syndrome
Conductive hearing impairment, Optic atrophy ORPHA:561
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia ORPHA:228384
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o... OMIM:618265
Kleefstra Syndrome 1
Abnormal pinna morphology, Hypospadias, Aggressive behavior, Cryptorchidism, Abnormal renal morph... OMIM:610253
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Wide nose, Convex nasal ridge, Micrognathia, Shor... OMIM:617667
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture, Wrist flexion contracture, Joint laxity, Long toe, Anteverted nares, Depress... ORPHA:254528
Penile Agenesis
Urethral atresia, male, Posteriorly rotated ears, Hydroureter, Cryptorchidism, Fetal pyelectasis,... ORPHA:49
Feingold Syndrome 1
Patent ductus arteriosus, Interrupted aortic arch OMIM:164280
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Joint laxity, Dental crowding, Open bite, Hyperplasia of the maxilla OMIM:613671
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment ORPHA:238750
Phosphoribosylpyrophosphate Synthetase Superactivity
Epicanthus, Renal insufficiency, Hypospadias, Depressed nasal bridge, Hearing impairment, Cryptor... OMIM:300661
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Branchio-Oculo-Facial Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Abnormal pinna morphology, Renal... ORPHA:1297
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Optic disc pallor, Neurogenic bladder, Renal ins... ORPHA:191
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Abnormal cerebral white matter morphology, Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Stüve-Wiedemann Syndrome
Osteopenia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smooth tongue, H... ORPHA:3206
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Mandibular prognathia, Ureteral duplication, High, narrow palate, Narrow palpebral fissure, Dupli... ORPHA:457212
Meckel Syndrome
Ureteral duplication, Micrognathia, Asplenia, Depressed nasal ridge, Urethral atresia, Dandy-Walk... ORPHA:564
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Premature thelarche, Osteolysis involving bones of the upper limbs, Abno... ORPHA:371428
20Q13.33 Microdeletion Syndrome
Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Facial hypotonia ORPHA:261311
Humeroradial Synostosis
Renal insufficiency, Humeroradial synostosis, Wide nasal bridge, Microtia, Small earlobe OMIM:236400
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Cerebellar vermis hypoplasia, Accelerated skeletal maturation, Renal cyst,... OMIM:312870
Trichorhinophalangeal Syndrome Type 2
Low-set, posteriorly rotated ears, Recurrent urinary tract infections, Vesicoureteral reflux, Pro... ORPHA:502
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Achondrogenesis Type 2
Pulmonary hypoplasia, Hearing impairment ORPHA:93296
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms, Multifocal epileptiform discharges, EEG with spike-wave complexes... OMIM:619317
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Bowing of the legs, Short neck, Depressed nasal ridge, Knee flexion contracture, Ab... OMIM:271665
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Congenital diaphragmatic hernia, Abnormal a... ORPHA:2059
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Decreased resp... ORPHA:94089
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Microphthalmia, Syndromic 6
Adrenal hypoplasia, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Clinodactyly of ... OMIM:607932
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
High-frequency sensorineural hearing impairment, Osteopenia, Mixed hearing impairment, Epicanthus... OMIM:614557
Schwannomatosis, Vestibular
Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas, Unilat... OMIM:101000
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema... ORPHA:667
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst OMIM:614091
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal... ORPHA:228402
12Q14 Microdeletion Syndrome
Renal hypoplasia, Horseshoe kidney, Ectopic kidney ORPHA:94063
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartom... ORPHA:99880
Autosomal Dominant Spastic Ataxia Type 1
Jerky head movements, Dysphagia ORPHA:251282
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Unilateral renal agenesis, Optic atrophy, Hydrone... ORPHA:487796
Ellis-Van Creveld Syndrome
Epispadias, Pectus carinatum, Narrow chest, Hypoplastic iliac wing, Dandy-Walker malformation, Hy... OMIM:225500
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Bilateral conductive hearing impairment, Interictal epileptiform activity, Low-set ears, Dysphagi... OMIM:617802
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... OMIM:610042
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,... ORPHA:99027
Alstrom Syndrome
Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula... OMIM:203800
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... ORPHA:1328
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Recurrent otitis media, Conductive hearing impairment, Abno... ORPHA:244
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Telecanthus, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue,... ORPHA:989
Wolfram Syndrome 1
Ptosis, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Sideroblastic ane... OMIM:222300
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Testicular neoplasm, Renal hamartom... ORPHA:143
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Steroid-dependent nephrotic syndrome, Urinary incontinence, Aggressive behavior, B... OMIM:300912
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Arthrogryposis multiple... OMIM:601809
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... OMIM:250420
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Hypoplas... ORPHA:1101
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Subcortical cerebral atrophy, Conjunctivitis, Agenesis of corpus call... ORPHA:2273
Pediatric-Onset Graves Disease
Craniosynostosis, Abnormal eyelid morphology, Puberty and gonadal disorders, Microcephaly, Thyrot... ORPHA:525731
Thanatophoric Dysplasia
Patent ductus arteriosus, Pulmonary hypoplasia, Low-set ears, Hearing impairment ORPHA:2655
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Micrognathia, Short neck, Prominent nose, Synophrys, Protruding ear, High ... OMIM:612474
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Vesicouret... OMIM:613174
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Aggressive behavior, EEG with photoparoxysmal response, Multifocal epileptiform di... ORPHA:168491
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... ORPHA:401777
Alagille Syndrome 1
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h... OMIM:118450
Fanconi Anemia, Complementation Group W
Renal hypoplasia OMIM:617784
Heart Defects-Limb Shortening Syndrome
Death in infancy, Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal fo... ORPHA:1354
Dextrocardia
Congenital hip dislocation, Intestinal malrotation, Abnormality of the spleen, Abnormal renal mor... ORPHA:1666
Phocomelia, Schinzel Type
Hypoplasia of penis, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Pr... ORPHA:2879
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Cryptorchi... ORPHA:322
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Delaye... OMIM:244460
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hypothyroidism, Hyperplasia of the ... ORPHA:231226
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Agnathia-Otocephaly Complex
Conductive hearing impairment, Low-set ears, Synotia OMIM:202650
Craniofacial-Deafness-Hand Syndrome
Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment,... OMIM:122880
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Glandular hyp... OMIM:300219
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Huntington Disease-Like 1
EEG abnormality, Jerky head movements, Restlessness, Abnormal head movements ORPHA:157941
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Cryptorchidism, Microphallus, Micropenis, Macrotia, Abnormal repetitive mannerisms... OMIM:300486
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Recurrent hand flapping, Agitation, Abnormal autonomic nervous system physiology, Bruxism OMIM:617903
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529799
Childhood Absence Epilepsy
Punding, EEG with spike-wave complexes (2.5-3.5 Hz), Attention deficit hyperactivity disorder, Je... ORPHA:64280
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Cerebellar vermis hypoplasia, Short neck, Protruding ear, High palate, Bif... OMIM:620330
Microcephaly 3, Primary, Autosomal Recessive
Mixed hearing impairment, Sensorineural hearing impairment OMIM:604804
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, Cryptorchidism, Repetitive compulsive behavior, Dysphagia, Low-set ears, Bruxism, Ma... OMIM:300260
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Death in infancy, Accessory spleen, Sandal gap, Adrenal hypoplasia, Mic... OMIM:613177
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Posteriorly rotated ears, Underfolded helix, Patent ductus arte... OMIM:618316
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Choanal atresia, Lip pit, Micrognath... ORPHA:1300
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Depressed nasal bridge, Convex nasal ridge, Microgn... ORPHA:3015
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... ORPHA:95715
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... OMIM:271640
Multiple Synostoses Syndrome 2
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Pr... OMIM:610017
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteo... ORPHA:93351
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-set ears,... OMIM:618430
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft lip, Meningocele, Hip dislocation, Absent nasal septal cartilage, Depressed nas... ORPHA:2003
Microphthalmia, Syndromic 1
Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Narrow chest... OMIM:309800
Degcags Syndrome
Recurrent urinary tract infections, Posteriorly rotated ears, Hypospadias, Bilateral renal dyspla... OMIM:619488
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
3-5 toe syndactyly, Vesicoureteral reflux, Clinodactyly of the 5th finger, Pelvic kidney, Spina b... OMIM:300707
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Wide nose, Palpebral edema, Abnormal cortical gyration, Anteverted nares, Narrow mouth... ORPHA:314647
Cantú Syndrome
Accelerated skeletal maturation, Short neck, Narrow chest, Broad ribs, Long philtrum, Finger synd... ORPHA:1517
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia, Low-set ears OMIM:191830
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Smooth philtrum, Hypoplasia of eyelid, Intestinal malrotation, Cleft soft palate, Optic nerve hyp... OMIM:619321
Down Syndrome
Conductive hearing impairment, Renal hypoplasia/aplasia, Aganglionic megacolon, Round ear ORPHA:870
Chanarin-Dorfman Syndrome
Sensorineural hearing impairment, Microtia, Everted lower lip vermilion, Ectropion OMIM:275630
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... ORPHA:2050
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Penoscrotal hypospadias, Cryptorchidism, Glandular hypospadias, Thin ribs, High palate, Micropeni... ORPHA:456328
Sotos Syndrome
Ureteral duplication, Cerebellar vermis hypoplasia, Accelerated skeletal maturation, No permanent... ORPHA:821
Blepharophimosis-Impaired Intellectual Development Syndrome
Recurrent urinary tract infections, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Enures... OMIM:619293
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Cupped ear, Irregular menstruation, Amenorrhea OMIM:110100
Giant Cell Arteritis
Renal insufficiency, Vertigo, Optic atrophy, Hematuria, Conductive hearing impairment, Hearing im... ORPHA:397
Congenital Disorder Of Glycosylation, Type Iit
Conductive hearing impairment, Posteriorly rotated ears, Urinary incontinence, Low-set ears OMIM:618885
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Cerebral calcification, Bowing of the long bones, Intestinal malro... ORPHA:3035
19P13.12 Microdeletion Syndrome
Hypospadias, External ear malformation, Sensorineural hearing impairment, Low-set ears, Conductiv... ORPHA:254346
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... OMIM:200610
Beta-Thalassemia Major
Extramedullary hematopoiesis, Malar prominence, Hypothyroidism, Hyperplasia of the maxilla, Hypop... ORPHA:231214
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Rabin-Pappas Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic nerve hypoplasia OMIM:620155
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Macrotia, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Epicanthus, Broad hallux, Sandal gap, Short neck, Delayed skeletal maturation, Hypose... OMIM:614800
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Pectus excavatum, Hypoplasia of the zygomatic bone, Macrocephaly, Malar f... ORPHA:2835
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence, Decreased nerv... ORPHA:101085
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears OMIM:617877
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Aggressive behavior, Cryptorchidism, Self-... ORPHA:261494
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Increased circulating... ORPHA:3240
Mesomelia-Synostoses Syndrome
Micrognathia, Short metatarsal, Tibial bowing, Tarsometatarsal synostosis, Abnormal vertebral mor... OMIM:600383
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec... OMIM:619580
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Choanal atresia, Optic disc coloboma, Cleft palate,... OMIM:270420
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Vascular ring, Patent ductus arteriosus, Natal tooth, Coarctation of aorta ORPHA:353281
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms ORPHA:280763
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia ORPHA:572013
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death OMIM:619817
8Q24.3 Microdeletion Syndrome
Hyperactivity, Posteriorly rotated ears, Abnormality of the kidney, Unilateral renal agenesis, As... ORPHA:508488
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperalaninemia, Abnormal rep... ORPHA:927
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Pneumothorax, Abnormal pulmonary artery morphology, Pulmonary h... ORPHA:2257
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Optic disc pallor, Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Osteogenesis Imperfecta, Type Vii
Osteopenia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest, Death in in... OMIM:610682
Thyroid Dyshormonogenesis 1
Macroglossia, Umbilical hernia, Hypothyroidism, Goiter OMIM:274400
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... ORPHA:91387
Faciocardiomelic Syndrome
Osteopenia, Ptosis, Telecanthus, Dysharmonic bone age, Anteverted nares, Depressed nasal bridge, ... OMIM:612731
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, A... OMIM:617952
Waardenburg Syndrome, Type 1
Mandibular prognathia, Smooth philtrum, Telecanthus, White eyelashes, White eyebrow, Spina bifida... OMIM:193500
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Mixed hearing impairment, Oligosacchariduria ORPHA:309288
Ritscher-Schinzel Syndrome 4
Impulsivity, Aggressive behavior, Cryptorchidism, Dysphagia, Micropenis, Macrotia, Abnormal repet... OMIM:619435
De Barsy Syndrome
Delayed eruption of teeth, Decreased muscle mass, Patent ductus arteriosus, Hypoplastic aortic ar... ORPHA:2962
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Cerebral calcification, Depressed nasal bridge, Decreased proportion of CD8-positive T cells, Wid... OMIM:617241
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Hypokalemia, Aminoaciduria, Hypophos... ORPHA:213
Waardenburg Syndrome
Conductive hearing impairment, Aganglionic megacolon, Hearing impairment ORPHA:3440
Microsporidiosis
Sinusitis, Osteomyelitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Urethr... ORPHA:2552
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Achilles tendon contra... OMIM:607155
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Prominent antihelix, Abnormal repetitive mannerisms, Optic atrophy OMIM:617807
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Urinary incontinence, Peripheral demyelination, E... ORPHA:206448
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Radio-Tartaglia Syndrome
Conductive hearing impairment, Large earlobe, Low-set ears, Hearing impairment OMIM:619312
Isolated Exencephaly
Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleto... ORPHA:563612
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Autosomal Dominant Progressive External Ophthalmoplegia
Ptosis, Diabetes mellitus, Hyperthyroidism, Facial palsy, Goiter, Osteoporosis, Facial diplegia, ... ORPHA:254892
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Delayed tarsal o... OMIM:600002
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Anteverted nares, Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Abnormal form o... ORPHA:73230
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age... OMIM:308205
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Flexion contracture, Congenit... ORPHA:158684
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis, Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies,... ORPHA:2064
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia, Unilateral renal agenesis ORPHA:457284
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow greater scia... OMIM:250220
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Se... OMIM:105830
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Epicanthus, Posteriorly rotated ears, Exaggerated cupid's bow, Spina bifida, Tapered finger, Broa... OMIM:619480
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... OMIM:620294
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Hypospadias, Cupped ear, Microtia, Rectovaginal fistula, Scoliosis, ... OMIM:617466
Immunodeficiency 9
Death in infancy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenes... OMIM:612782
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Ulnar-Mammary Syndrome
Cryptorchidism, Hypoplasia of penis, Decreased fertility, Renal hypoplasia ORPHA:3138
Nestor-Guillermo Progeria Syndrome
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Cavum... OMIM:614008
Rett Syndrome
EEG abnormality, Agitation, Abnormal autonomic nervous system physiology, Abnormal repetitive man... ORPHA:778
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Aggressive behavior, Tongue thrusting, Protruding ear, Polycystic kidn... OMIM:606232
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Anteverted nares, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia... ORPHA:238468
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Tracheoesophageal fistula, Lymphadenopathy, Anaplastic thyroid carcinom... ORPHA:142
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Trisomy 10P
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit... ORPHA:171929
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Low-set ears ORPHA:85166
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Intestinal obstruct... OMIM:243150
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Single naris, Orofacial cleft, Abnormality of the max... ORPHA:141099
Phakomatosis Pigmentokeratotica
Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Hypophosphatemic ... ORPHA:2874
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Short neck, Flexion contrac... OMIM:601803
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Hepatic periportal necrosis, Abnormal pinna morphology, Pulmonary hypoplasia OMIM:231680
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Short neck, Abnormality of the thyroid gland, Hemivertebrae, Abnormal rib mo... ORPHA:2234
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Renal agenesis, Posteriorly p... OMIM:306955
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Abnormal subclavian a... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Abnormal subclavian a... ORPHA:353277
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Elevated u... ORPHA:653
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Steinfeld Syndrome
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morph... OMIM:184705
White-Sutton Syndrome
Duplicated collecting system, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Ag... OMIM:616364
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Wide nose, Anteverted nares, Hypoplasia of the zygomatic bone, Long philtrum, Clinodactyly of the... ORPHA:3074
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Hydrocele testis, Microtia... ORPHA:276280
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Hypsarrhythmia, EEG with frontal sharp slow waves, EEG abnormal... ORPHA:457351
Kapur-Toriello Syndrome
Conductive hearing impairment, Micropenis, Abnormality of the urinary system, Low-set ears OMIM:244300
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Sotos Syndrome
Posteriorly rotated ears, Abnormality of the kidney, Low-set ears, Otitis media, Conductive heari... OMIM:117550
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, High palate, Short philtrum, Death in childhood, S... OMIM:619127
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Dysphagia ORPHA:240103
Birk-Barel Syndrome
Microretrognathia, Sacral dimple, Tented upper lip vermilion, Highly arched eyebrow, High palate,... OMIM:612292
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Compulsive behaviors, Attention deficit hyperactivity disorder, Con... ORPHA:1001
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal ala... ORPHA:250999
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Fetal Akinesia Deformation Sequence
Posteriorly rotated ears, Pulmonary hypoplasia ORPHA:994
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholesterolemia, Abnormal... ORPHA:2479
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dys... ORPHA:1318
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... ORPHA:402075
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Repetitive compulsive behavior, Optic atrophy, Per... ORPHA:66634
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Patent ductus arteriosu... ORPHA:1600
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Low-set ears ORPHA:171430
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Ag... OMIM:613091
Blepharochalasis And Double Lip
Blepharochalasis, Duplication of the upper lip, Goiter OMIM:109900
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Low-set ears OMIM:618205
Tetrasomy 5P
Recurrent respiratory infections, Posteriorly rotated ears, Wide anterior fontanel, Pulmonary hyp... ORPHA:3309
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Short palm, Broad ribs, Thick upper lip vermilion, Anteverted nar... OMIM:619727
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Sensorineural hearing impairment, Vesicoureteral reflux, Horseshoe kidney, Low-se... OMIM:235510
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Epicanthus, Supernumerary nipple, Microcephaly, Cryptorchidism, Postaxial hand polydactyly, Paten... ORPHA:2519
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Protruding ear, Bladder diverticulum, Low-set ears ORPHA:90348
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Joint stiffness, Abnorma... ORPHA:392
Multiple Epiphyseal Dysplasia Type 5
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea... ORPHA:93311
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Sensorineural hearing imp... OMIM:194050
White-Sutton Syndrome
Duplicated collecting system, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnor... ORPHA:468678
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Hyperbilirubinemia OMIM:301094
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, EEG with focal spike waves, Posteriorly rotated ears, Multifo... OMIM:619229
Kniest Dysplasia
Conductive hearing impairment, Recurrent otitis media OMIM:156550
Distal Deletion 15Q
Congenital diaphragmatic hernia, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia, Arachnodactyly, Micrognathia, Cerebral atrophy, Congenital ... OMIM:619036
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Intestinal obstruction, Neoplasm of the nose, Nasal polyposis, Abnorma... ORPHA:2869
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... ORPHA:79474
Mccune-Albright Syndrome
Intestinal polyposis, Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated c... OMIM:174800
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repet... OMIM:616393
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... OMIM:300986
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Chronic otitis media OMIM:244400
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta, Aortic root aneurysm, Pe... OMIM:617506
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar... ORPHA:284984
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Hypospadias, Microcephaly, Submucous cleft hard palate, Flexion contracture, Cerebral atrophy, An... OMIM:618891
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Head-banging, Renal tubular acidosis, Self-injurious behavior, ... OMIM:619575
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620242
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Mixed hearing impairment, Cupped ear, Renal cyst, Low-set ears OMIM:615560
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Abnormal repetitive mannerisms, Low-set ears, Overfriendliness OMIM:616579
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Low-set ears, Ma... OMIM:212066
Immunodeficiency 23
Conductive hearing impairment, Sensorineural hearing impairment, Membranoproliferative glomerulon... OMIM:615816
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Patent ductus arteriosus, Bilateral superior vena cava with bridging ve... ORPHA:216694
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteini... ORPHA:3044
Occipital Horn Syndrome
Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi... OMIM:304150
Aspergillosis
Osteomyelitis, Sinusitis, Abnormality of the kidney, Eosinophilia, Dacryocystitis, Abnormal rib m... ORPHA:1163
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Single naris, Anosmia, Cleft pa... ORPHA:2250
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Bilateral conductive hearing impairment OMIM:602080
Rett Syndrome, Congenital Variant
Tongue thrusting, Protruding ear, EEG abnormality, Bruxism, Abnormal repetitive mannerisms OMIM:613454
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Oculodentodigital Dysplasia
Neurogenic bladder, External ear malformation, Optic atrophy, Abnormality of the ear, Conductive ... ORPHA:2710
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Everted upper lip vermilion, Absent nipple, Sparse eyelashes, Depressed nasal bri... OMIM:305100
Calvarial Doughnut Lesions With Bone Fragility
Mixed hearing impairment OMIM:126550
Ogden Syndrome
Cryptorchidism, Macrotia, Low-set ears, Abnormal head movements ORPHA:276432
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Elevated circulating cr... OMIM:300352
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Low u... OMIM:603233
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia OMIM:612918
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula, Absent thumb, Microcephaly OMIM:619239
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Fanconi Anemia, Complementation Group A
Male infertility, Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, E... OMIM:227650
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Renal agenesis, Low-set, posteriorly rotated ears, Renal hypoplasi... ORPHA:2754
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggres... OMIM:619121
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Elevated... ORPHA:401973
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:616867
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Urinary incontinence, Hair-pulling, Hypsarrhythmia, Protruding ear, Low-set ears, ... ORPHA:447997
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Abnormality of the outer ear, A... ORPHA:435638
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... ORPHA:91347
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... ORPHA:733
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Abnormal repetitive mannerisms OMIM:618067
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Bone pain, Rickets, Renal phosphate wasting, Hypophosphatemic rickets, Eleva... OMIM:612089
Kindler Epidermolysis Bullosa
Urethral stricture, Laryngeal stenosis, Flexion contracture, Gingivitis, Inflammation of the larg... ORPHA:2908
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Neurogenic bladder, Urinary incontinence, Elevated circulating creatine kinase concentration, Opt... ORPHA:496641
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Posteriorly rotated ears, Dilatation of renal calices, Sensorineural hearing impairment, Prominen... ORPHA:466943
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Frontofacionasal Dysplasia
Telecanthus, Blepharophimosis, Underdeveloped nasal alae, Cleft upper lip, Ankyloblepharon, Orofa... OMIM:229400
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Bencze Syndrome
Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate, Open bite ORPHA:1241
Otopalatodigital Syndrome, Type I
Conductive hearing impairment OMIM:311300
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab... ORPHA:436
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia OMIM:619003
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Thickened helices, Mixed hearing impairment, Overfolded helix, Low-set ears OMIM:608624
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Nephroblastoma, Thyroid nodule, Goiter OMIM:180295
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow... OMIM:263520
Acrocephalopolydactylous Dysplasia
Abnormal pinna morphology, Pulmonary hypoplasia, Low-set ears, Extrapulmonary sequestrum OMIM:200995
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephr... OMIM:203500
Glutaric Aciduria Iii
Glutaric aciduria, Hyperthyroidism, Goiter OMIM:231690
Syndromic Diarrhea
Polycystic kidney dysplasia, Renal hypoplasia, Abnormality of iron homeostasis ORPHA:84064
Cockayne Syndrome B
Renal insufficiency, Abnormal pinna morphology, Abnormal peripheral myelination, Abnormal auditor... OMIM:133540
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Basal ganglia calcification, Sensorineural hearing impairment, C... OMIM:146255
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
Cockayne Syndrome A
Renal insufficiency, Abnormal pinna morphology, Abnormal peripheral myelination, Abnormal auditor... OMIM:216400
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Low-set ears ORPHA:1848
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Developmental Delay, Hypotonia, And Impaired Language
Mixed hearing impairment OMIM:620012
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... OMIM:208500
Pgm3-Cdg
Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Sensorineural hea... ORPHA:443811
Joubert Syndrome 6
Abnormal repetitive mannerisms, Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compulsive be... OMIM:615656
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Micropenis, Low-set ears, Vesicoureteral reflux, Overfolded helix, Pelvic kidney,... OMIM:618653
Split Lower Lip
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla OMIM:183400
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Peroxisome Biogenesis Disorder 1A (Zellweger)
Posteriorly rotated ears, Wide anterior fontanel, Sensorineural hearing impairment, Patent ductus... OMIM:214100
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Fetal ... OMIM:619512
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Pierre-Robin s... OMIM:192445
Brittle Cornea Syndrome
Conductive hearing impairment, Sensorineural hearing impairment ORPHA:90354
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cryptorchidism, Micropenis, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Pitt-Hopkins Syndrome
Cryptorchidism, Cupped ear, Self-injurious behavior, Thickened helices, Micropenis, Abnormal repe... OMIM:610954
Genitopatellar Syndrome
Pulmonary hypoplasia, Low-set ears, Hearing impairment ORPHA:85201
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Sensorineural hearing impairment, Abnormal autonomic nervous system physi... ORPHA:300570
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... OMIM:171400
Liver Disease, Severe Congenital
Chronic gastritis, Micrognathia, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... OMIM:619991
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Arteria lusoria, Left aortic arch with cervical origin of the right sub... OMIM:212093
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Achondroplasia
Conductive hearing impairment, Recurrent otitis media OMIM:100800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Cerebral calcification, Elevated circulating parathyroid hormone level, Parathyroid h... OMIM:617994
Huntington Disease-Like 3
Abnormal head movements, Urinary incontinence ORPHA:157946
Okamoto Syndrome
Urinary incontinence, Unilateral renal hypoplasia, Abnormal helix morphology, Low-set ears, Urete... ORPHA:2729
Larsen Syndrome
Conductive hearing impairment ORPHA:503
Bainbridge-Ropers Syndrome
Death in infancy, Posteriorly rotated ears, Cryptorchidism, Self-injurious behavior, Low-set ears... OMIM:615485
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... OMIM:610168
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Developmental And Epileptic Encephalopathy 2
EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:300672
Loeys-Dietz Syndrome 3
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... OMIM:613795
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements OMIM:245348
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Ectopic kidney, External ear malformation, R... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Ectopic kidney, External ear malformation, R... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Ectopic kidney, External ear malformation, R... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Ectopic kidney, External ear malformation, R... ORPHA:881
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia, Aggressive behavior, Compulsive behaviors, Attention deficit... ORPHA:476126
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Nasal polyposis, Rectal prolapse, Clubbing, Multiple gastric polyps, Ab... OMIM:175200
Hajdu-Cheney Syndrome
Hypospadias, Renal cyst, Large earlobe, Low-set ears, Polycystic kidney dysplasia, Conductive hea... OMIM:102500
Congenital Tracheal Stenosis
Ascending aorta hypoplasia, Patent ductus arteriosus, Preductal coarctation of the aorta, Pulmona... ORPHA:141127
Hennekam Syndrome
Ectopic kidney, External ear malformation, Horseshoe kidney, Low-set ears, Conductive hearing imp... ORPHA:2136
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Posteriorly rotated ears, Pulmonary hypoplasia, Hearing impairment OMIM:619148
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, EEG abnormality, Attention deficit hyperactivity disorder, Death in childhood, Mi... OMIM:619005
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, EEG with focal sharp waves, Self-biting, EEG abnormality, EEG wit... ORPHA:522077
Meckel Syndrome 14
Pneumothorax, Pulmonary hypoplasia, Low-set ears OMIM:619879
Cardiac Diverticulum
Abnormal coronary artery origin, Diastasis recti, Patent ductus arteriosus, Pulmonary artery sten... ORPHA:1686
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Dilatation of renal calices, Abnorma... ORPHA:319182
Mosaic Trisomy 16
Abnormal ear morphology, Patent ductus arteriosus, Abnormal lung morphology, Pulmonary hypoplasia... ORPHA:1708
Mosaic Trisomy 1
Pulmonary artery atresia, Abnormal pinna morphology, Pulmonary hypoplasia, Low-set ears ORPHA:1692
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth, Agenesis of corpus callosum, Lacrimal duct atresia, Thyroid C ... OMIM:300952
Vater/Vacterl Association
Occipital encephalocele, Laryngeal stenosis, Abnormal nasopharynx morphology, Ectopic kidney, Pre... OMIM:192350
Codas Syndrome
Conductive hearing impairment, Crumpled ear, Sensorineural hearing impairment OMIM:600373
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Protruding ear, Tics, Otitis media, Compulsive behaviors, Micropenis, Abnormal repetitive manneri... OMIM:619475
Phace Syndrome
Optic nerve hypoplasia, Microcephaly, Hypothyroidism, Abnormality of the orbital region, Abnormal... ORPHA:42775
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... OMIM:233450
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... OMIM:175050
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Abnormality of the orbital re... ORPHA:79078
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Abn... ORPHA:649
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi... OMIM:182250
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... ORPHA:1332
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:203330
Cleft Soft Palate
Cleft soft palate OMIM:119570
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Uplifted earlobe, Overfolded helix, Conductive hearing impairment, ... OMIM:280000
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Sinusitis, Microcephaly, Acu... OMIM:208900
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Congenital Total Pulmonary Venous Return Anomaly
Pulmonary artery stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Supracardiac total ... ORPHA:99125
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Duplicated collecting system, Bilateral conductive hearing impairment, Hearing impairment ORPHA:488642
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Accelerated skeletal maturation, In... OMIM:609152
Phace Association
Optic nerve hypoplasia, Patent ductus arteriosus, Optic atrophy, Horner syndrome, Congenital hypo... OMIM:606519
Leprosy
Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomic nervous s... ORPHA:548
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Sensorineural hearing impairment OMIM:215150
Hypotonia, Ataxia, And Delayed Development Syndrome
Posteriorly rotated ears, Cryptorchidism, Overfolded helix, Micropenis, Low-set ears, Dysphagia, ... OMIM:617330
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia OMIM:241800
Hunter-Macdonald Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Hypospadias OMIM:611962
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Abnormal circulating phytanic acid concentration ORPHA:247815
Tick-Borne Encephalitis
Vertigo, Tinnitus, Abnormality of the vestibular nerve, Hearing impairment ORPHA:297
Tuberous Sclerosis Complex
Renal insufficiency, Retinal astrocytic hamartoma, Abnormality of the kidney, Retinal hamartoma, ... ORPHA:805
Acrofrontofacionasal Dysostosis 1
Mixed hearing impairment, Optic atrophy OMIM:201180
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Recurrent otitis media ORPHA:2502
Kyphoscoliotic Ehlers-Danlos Syndrome
Sensorineural hearing impairment, Bladder diverticulum, Low-set ears, Conductive hearing impairme... ORPHA:536545
Lathosterolosis
Conductive hearing impairment, Horseshoe kidney OMIM:607330
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Hyperactivity, Posteriorly rotated ears, Facial palsy, Crypto... OMIM:615873
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Cupped ear, Optic atrophy, ... OMIM:309590
Diamond-Blackfan Anemia 1
Renal hypoplasia OMIM:105650
Congenital Myopathy 13
Conductive hearing impairment, Low-set ears OMIM:255995
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
D-2-hydroxyglutaric aciduria, Macrotia, Unilateral renal agenesis ORPHA:99646
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Accelerated skeletal maturation, Thyrotoxicosis with diffuse goiter, Activating ... ORPHA:424
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Legius Syndrome
Neurofibroma, Nephrolithiasis, Vestibular schwannoma, Male urethral meatus stenosis, Nephroblasto... ORPHA:137605
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle, Hearing impairment OMIM:600901
Mucolipidosis Type Ii
Conductive hearing impairment, Sensorineural hearing impairment, Otitis media ORPHA:576
Floating-Harbor Syndrome
Posteriorly rotated ears, Hypospadias, Glandular hypospadias, Nephrocalcinosis, Recurrent otitis ... OMIM:136140
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Sensorineural hearing impairment, Pulmonary hypoplasia OMIM:619351
Atelosteogenesis Type Ii
Pulmonary hypoplasia, Low-set ears ORPHA:56304
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia, Low-set ears OMIM:616546
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Hypospadias, Decreased response to growth hormone stimul... OMIM:180500
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Renal hypoplasia OMIM:270100
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Abnormality of the kidney, Head-banging, Compulsive behaviors, Att... ORPHA:177907
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of t... ORPHA:93941
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Low urinary cyclic AMP ... ORPHA:94090
Niemann-Pick Disease, Type C2
Death in infancy, Abnormal repetitive mannerisms, Dysphagia, Death in childhood OMIM:607625
Full Nf2-Related Schwannomatosis
Facial palsy, Bilateral vestibular schwannoma, Sensorineural hearing impairment, Peripheral schwa... ORPHA:637
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Posteriorly rotated ears, Anteverted ears, Bilateral cryptorc... OMIM:616268
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Repeated pneumothoraces, Atelectasis, Pulmona... ORPHA:536467
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Hydron... ORPHA:93271
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia, Low-set ears ORPHA:50945
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria ORPHA:2239
Thyroid Ectopia
Abnormality of the thyroid gland, Macroglossia, Ectopic thyroid, Umbilical hernia, Hypothyroidism ORPHA:95712
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Pulmonary hypoplasia, Low-set ears, Aortopulmonary window OMIM:620025
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... OMIM:309000
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Low-set ears, Hearing impairment OMIM:227646
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle, Hearing impairment OMIM:227645
Alzahrani-Kuwahara Syndrome
Persistent left superior vena cava, Pulmonary artery sling OMIM:619268
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:616866
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Osteomyelitis, Duodenal ulcer, Gastritis, Osteomalacia, Decreased proportion of ... OMIM:619381
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral d... OMIM:619656
Pagod Syndrome
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Abnormal clavicle morphology, Spin... ORPHA:991
Cowden Syndrome 7
Intestinal polyposis, Papillary thyroid carcinoma, Macrocephaly, Ductal carcinoma in situ, Hashim... OMIM:616858
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia, Low-set ears OMIM:616503
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Low-set ears OMIM:273395
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Cardiac-Valvular Ehlers-Danlos Syndrome
Severe conductive hearing impairment ORPHA:230851
Esophageal Atresia
Recurrent respiratory infections, Bronchitis, Abnormality of the ear, Pulmonary hypoplasia, Heari... ORPHA:1199
Sandifer Syndrome
Abnormal head movements ORPHA:71272
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura... ORPHA:93317
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Conductive hearing impairment, Macrotia, Calcification of the auricular cartilage ORPHA:3042
Ogden Syndrome
Global glomerulosclerosis, Cryptorchidism, Dysphagia, Protruding ear, Hydrocele testis, Hyperbili... OMIM:300855
Carney Complex
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O... ORPHA:1359
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno... ORPHA:93930
Nmda Receptor Encephalitis
Orthostatic hypotension, Orthostatic tachycardia, Hypersexuality, EEG with temporal sharp slow wa... ORPHA:217253
Holoprosencephaly 4
Ptosis, Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal ... OMIM:142946
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia OMIM:187600
Joubert Syndrome 21
Sensorineural hearing impairment, Pulmonary hypoplasia OMIM:615636
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Horseshoe kidney, Mild conductive hearing impairment, Hypoplas... ORPHA:221120
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Pheochromo... OMIM:160980
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Intestinal atresia, Hypoplas... ORPHA:436252
Biliary, Renal, Neurologic, And Skeletal Syndrome
Right aortic arch, Patent ductus arteriosus, Pulmonary artery dilatation OMIM:619534
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Aortic root aneurysm, Delayed eruption of teeth OMIM:135500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms, Horseshoe kidney ORPHA:508533
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Pulmonary hypoplasia OMIM:615415
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Pulmonary hypoplasia, Low-set ears, Hearing impairment ORPHA:536471
Developmental And Epileptic Encephalopathy 100
Abnormal repetitive mannerisms, EEG with photoparoxysmal response, Dysphagia OMIM:619777
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... OMIM:301044
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Premature loss of teeth, Multinodular goiter OMIM:618373
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Renal cell carcinoma, Thyroid carcinoma, ... ORPHA:276399
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypospadias, Vesicovaginal fistula, Horseshoe kidney, Chordee, Low-set ears, Conductive hearing i... OMIM:201750
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Pulmonary hypoplasia OMIM:314390
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Hutchinson-Gilford Progeria Syndrome
Conductive hearing impairment, Prominent ear helix, Low-frequency sensorineural hearing impairmen... ORPHA:740
Autosomal Recessive Polycystic Kidney Disease
Recurrent pneumonia, Spontaneous pneumothorax, Pulmonary hypoplasia, Low-set ears ORPHA:731
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Dpagt1-Cdg
Pulmonary hypoplasia, Hearing impairment ORPHA:86309
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Costello Syndrome
Renal insufficiency, Vestibular schwannoma, Posteriorly rotated ears, Low-set ears OMIM:218040
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Thoracoabdominal Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:313850
Renal-Hepatic-Pancreatic Dysplasia 1
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:208540
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Cryptorchidism, Abnormal repetitive mannerisms, Proteinuria OMIM:616682
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pulmonary hypoplasia OMIM:263200
Genitopatellar Syndrome
Pulmonary hypoplasia, Hearing impairment OMIM:606170
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:1112
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Eya1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Eya1.

No publications found that use IMPC mice or data for Eya1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Eya1tm188325(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Eya1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Eya1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Eya1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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