banner
Genes Phenotypes Help, News, Blog

Gene: Tbx1 MGI:98493

Log in to follow

Gene Summary

Name:
T-box 1
Synonyms:
nmf219

Order Alleles

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
abnormal pancreas morphology Tbx1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Tbx1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal eye morphology Tbx1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Tbx1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Tbx1em1(IMPC)Mbp HET E15.5 0.00
anophthalmia Tbx1em1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Tbx1em1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Tbx1em1(IMPC)Mbp HET Early adult 2.41×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

45 Images

View images
Download thumbnail Download
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

Human diseases caused by Tbx1 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 Tbx1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Cleft palate, Micrognathia, Ventricular septal de... OMIM:231060
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Retrognathia, Ex... ORPHA:107
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Microtia, Micrognathia, Anotia, Conotruncal defect OMIM:243440
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Conductive Deafness-Malformed External Ear Syndrome
High palate, Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing impa... ORPHA:3216
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Cleft palate... ORPHA:2306
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Micrognathia, Branchial fistula,... ORPHA:52429
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Cleft palate, Micro... OMIM:113650
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:619702
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia OMIM:616428
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex co... OMIM:611369
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Gingival overgrowth, Retrognathia, Microgn... ORPHA:1832
Velocardiofacial Syndrome
Hypoparathyroidism, Abnormality of the ear, Velopharyngeal insufficiency, Cleft palate, Retrognat... OMIM:192430
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Abnormal pinna morphology, Neonatal death, Truncus arteriosus OMIM:228940
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... ORPHA:98807
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma OMIM:611638
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... OMIM:609166
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Abnormality of cartilage of exte... ORPHA:3426
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Webbed neck, Hydranencephaly, Truncus arteriosus OMIM:601355
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Retrognathia, Hypogonadotr... OMIM:147770
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Emanuel Syndrome
High palate, Cleft palate, Congenital hip dislocation, Ventricular septal defect, Intrauterine gr... OMIM:609029
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Fetal Akinesia Deformation Sequence 4
High palate, Kyphosis, Cryptorchidism, Retrognathia, Micrognathia, Short neck, Polyhydramnios, Br... OMIM:618393
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Kyphosis, Cryptorchidism, Retrognathia, Micrognathia, Short neck, Scoliosis, Neonata... OMIM:611890
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Short neck, Low-set, posteriorly rotated ears, Abnormal vertebral mor... ORPHA:2015
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Warsaw Breakage Syndrome
High palate, Wide mouth, Cupped ear, Tetralogy of Fallot, Optic disc coloboma, Ventricular septal... OMIM:613398
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Thymic Aplasia With Fetal Death
Abnormality of the endocrine system, Stillbirth, Truncus arteriosus OMIM:274210
Emanuel Syndrome
High palate, Cleft palate, Congenital hip dislocation, Abnormality of the ankles, Delayed eruptio... ORPHA:96170
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Acrofacial Dysostosis, Cincinnati Type
Cleft palate, Microtia, Retrognathia, Micrognathia, Anotia, Patent ductus arteriosus, Hypoplasia ... OMIM:616462
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Limited neck range ... OMIM:184460
Mycophenolate Mofetil Embryopathy
Microtia, Micrognathia, Tracheoesophageal fistula, Anotia, Coarctation of aorta, Oral cleft, Atre... ORPHA:268249
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... ORPHA:79113
Marcus-Gunn Syndrome
Cleft palate, Cleft lip, Abnormal fifth cranial nerve morphology, Abnormal ear morphology, Abnorm... ORPHA:91412
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Pendred Syndrome
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... ORPHA:705
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Kyphoscoliosis, Elbow ankylosis, Micrognathia, Short neck, Conge... ORPHA:96183
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
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Sensorineural hearing impairment, Aplasia of the inner ear, Supernumerary tooth, Hypodontia, Micr... ORPHA:90024
Ciliary Dyskinesia, Primary, 37
Goiter, Hypothyroidism, Dextrocardia, Situs inversus totalis, Hearing impairment, Right aortic arch OMIM:617577
Lambert Syndrome
Ventricular septal defect, Branchial anomaly ORPHA:1296
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column, Cherry red spot of the macula ORPHA:351
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Vertebral segmentation defect, Anomalous origin of left coronary a... OMIM:618845
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum OMIM:168400
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Platyspondyly, Stiff neck OMIM:616583
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, High, narrow palate, Cleft palate, Micrognathia, Short neck, Vent... ORPHA:2516
Intellectual Developmental Disorder, Autosomal Recessive 64
Impaired social interactions, Aggressive behavior OMIM:618103
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Myelomeningocele, Hemivertebrae, Unilateral vertebral artery hypop... OMIM:613686
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Cystic hygro... OMIM:277300
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Ravine Syndrome
Ataxia, Spasticity, Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Head tremor, Spastic dysarthria, Optic atrophy, Gait ataxia, Cochl... ORPHA:95433
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Otofaciocervical Syndrome 1
Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Long neck, Hypoplasia of the... OMIM:166780
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Low-set ears, Gingival overgrowth, Atrial septal defect, Joint con... OMIM:179613
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Velopharyngeal insufficiency, Cleft palate, Vertebral clefting, Thin vermilion ... OMIM:614701
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Splenomegaly, Otitis media, Aplasia of the thymus, Eosinophilia, Abnormally low T ce... OMIM:602450
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent otitis media OMIM:618254
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Narrow mouth, Cryptorchidism, Thin vermilion border, Micrognathia, Death in childhood, Short neck... OMIM:618766
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Proximal symphalangism of han... OMIM:185800
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Trisomy 4P
Abnormal antihelix morphology, Abnormality of the dentition, Camptodactyly of finger, Short neck,... ORPHA:1738
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Pulmonic stenos... OMIM:618164
Monosomy 22
High palate, Joint swelling, Aplasia of the thymus, Retrognathia, Thin vermilion border, Hepatosp... ORPHA:96123
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Foam cells, Hypoplastic... OMIM:230650
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Tick-Borne Encephalitis
Abnormality of the vestibular nerve, Abnormal autonomic nervous system physiology, Polyneuritis, ... ORPHA:297
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... OMIM:609223
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Limited elbo... ORPHA:401935
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Conductive hearing impairment, Dental malocclusion, Joint contracture of the hand, Stenosis of th... OMIM:608257
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231183
Ear-Patella-Short Stature Syndrome
Cleft palate, Craniosynostosis, Anotia, Breast aplasia, Hypoplasia of the maxilla, Microtia, thir... ORPHA:2554
Syngnathia
Cleft palate OMIM:119550
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Abnormal pinna morphology, Micrognathia, Congenital hip dislocation, Scoliosis, Respira... OMIM:618291
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Atrial septal defect, Decreased response to growth h... OMIM:220210
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnormal vertebral mor... ORPHA:163665
Trisomy 13
Abnormal antihelix morphology, Kyphosis, Sensorineural hearing impairment, Abnormal helix morphol... ORPHA:3378
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Glossopharyngeal Neuralgia
Cranial nerve compression, Vascular dilatation, Tongue pain, Abnormal palate morphology, Schwanno... ORPHA:221098
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Babinski sign, Jerky head movements, Spastic dysarthria, Spastic paraple... ORPHA:251282
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Platyspondyly, Short neck, Ventricular septal defect, Intrauterine growth retardati... OMIM:616897
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Lower limb spasticity... ORPHA:320401
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231169
Microtia
Abnormal pinna morphology, Microtia, Anotia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... OMIM:604864
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... ORPHA:40
Phaver Syndrome
Myelomeningocele, Conductive hearing impairment, Overfolded helix, Coarctation of aorta, Pulmonar... ORPHA:2876
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Burning Mouth Syndrome
Parageusia, Xerostomia, Smooth tongue, Abnormal fifth cranial nerve morphology, Abnormality of ta... ORPHA:353253
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Aggressive behavior OMIM:618221
X-Linked Mandibulofacial Dysostosis
High palate, Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, Abn... ORPHA:1131
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Wide mouth, Sensorineural hearing impairment, Conductive hearing impairment, Abnorm... ORPHA:2549
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Protruding ear, Recurrent otitis media, Atrial septal... ORPHA:3304
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Miscarriage, Cryptorchidism, Cleft palate, Encephalocele, Short ribs, Micrognathia,... ORPHA:1865
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate OMIM:261800
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Cranial nerve compression, Abnormality of the eleventh cranial n... ORPHA:268882
Acrocardiofacial Syndrome
Cleft upper lip, Anal atresia, Mitral stenosis, Joint dislocation, Cryptorchidism, Hyperthyroidis... ORPHA:2008
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Conductive hearing impairment, Everted lower lip vermilion, Pulmonic stenosis, Long ... OMIM:617877
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Low-set, ... OMIM:615502
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Lethal Congenital Contracture Syndrome 10
High palate, Torticollis, Thoracic scoliosis, Narrow palate, Overriding aorta, Micrognathia, Hypo... OMIM:617022
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... ORPHA:199306
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Lower Limb Malformation-Hypospadias Syndrome
Respiratory insufficiency, Short neck, Abnormality of the spleen, Low-set, posteriorly rotated ea... ORPHA:2487
Monosomy 5P
High palate, Microretrognathia, Small hand, Short neck, Scoliosis, Low-set, posteriorly rotated e... ORPHA:281
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Abnormal oral cavity morphology, Craniosynostosis, Stenosis of the external auditory canal, Micro... ORPHA:1516
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Arthrogryposis, Distal, Type 1C
High palate, Narrow mouth, Limited neck range of motion, Pursed lips, Cleft palate, Cryptorchidis... OMIM:619110
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Protruding ear, Tooth agenesis, Cleft palate, Abnormality of lower... ORPHA:1166
Bilateral Polymicrogyria
Facial diplegia, Wide mouth, Sensorineural hearing impairment, Perisylvian polymicrogyria, 4-laye... ORPHA:268940
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... OMIM:616898
Stankiewicz-Isidor Syndrome
Low-set ears, Cryptorchidism, Retrognathia, Micrognathia, Ventricular septal defect, Patent ductu... OMIM:617516
Episodic Ataxia Type 4
Frequent falls, Incoordination, Ataxia, Abnormal head movements ORPHA:79136
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Scoliosis, Transposition of the great arteries, Tetralogy of Fallot ORPHA:1727
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Cryptorchidism, Scoliosis, Tetralogy of Fall... OMIM:618316
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Coxoauricular Syndrome
Hearing impairment, Microtia OMIM:122780
Fibrochondrogenesis 1
Abnormal pinna morphology, Cleft palate, Platyspondyly, Short neck, Rhizomelia, Widely patent cor... OMIM:228520
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Spondyloepiphyseal Dysplasia, Kimberley Type
Delayed skeletal maturation, Genu valgum, Platyspondyly, Genu varum OMIM:608361
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Micrognathia, Retrognathia, Glossoptosis, Bilateral cond... OMIM:615706
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Sensorineural hearing impairment, Protruding ear, Ankle flexion contracture, Cryptorchidism, Bran... ORPHA:435938
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Catel-Manzke Syndrome
Atrial septal defect, Cleft palate, Glossoptosis, Micrognathia, Camptodactyly of finger, Scoliosi... ORPHA:1388
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the pulmonary artery, Accelerated... ORPHA:1354
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Abnormal helix morphology, Cleft palate, Atrioventricular canal defect, Ventricular ... ORPHA:453499
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
High palate, Sensorineural hearing impairment, Abnormal pinna morphology, Conductive hearing impa... OMIM:618500
Achondrogenesis, Type Ib
Malar flattening, Short ribs, Respiratory insufficiency, Hydrops fetalis, Micromelia, Absent or m... OMIM:600972
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Catel-Manzke Syndrome
High palate, Cleft upper lip, Abnormal pinna morphology, Joint dislocation, Cryptorchidism, Cleft... OMIM:616145
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Tracheoes... ORPHA:861
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Elbow dislocation, Aplasia... ORPHA:3236
Mosaic Trisomy 9
High palate, Cleft palate, Hemivertebrae, Short neck, Micromelia, Ventricular septal defect, Intr... ORPHA:99776
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Vent... OMIM:617992
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Cleft palate, Microtia, Abnormality of the parathyroid gland, Atresia of the exte... ORPHA:3429
Noonan Syndrome
Abnormal pulmonary valve morphology, Sensorineural hearing impairment, Webbed neck, High palate, ... ORPHA:648
Microphthalmia, Syndromic 9
Atrial septal defect, Cryptorchidism, Multilobulated spleen, Pulmonic stenosis, Single ventricle,... OMIM:601186
Pierpont Syndrome
Uplifted earlobe, Short toe, Long upper lip, Malar flattening, Everted lower lip vermilion, Thin ... ORPHA:487825
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... OMIM:618469
Achondrogenesis
Thickened nuchal skin fold, Micrognathia, Short neck, Long philtrum, Hydrops fetalis, Micromelia,... ORPHA:932
Alpha-Mannosidosis
Dental malocclusion, Kyphosis, Gingival overgrowth, Narrow palate, Abnormal helix morphology, Mac... ORPHA:61
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Mosaic Trisomy 14
High palate, Wide mouth, Ectopic anus, Cleft palate, Microtia, Micrognathia, Camptodactyly of fin... ORPHA:1703
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Limitation of neck motion, Cervical vertebral bodies with decreased anteroposterior diameter, Fus... OMIM:606842
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Ventricular septal defect, Pneu... ORPHA:95430
Treacher Collins Syndrome 1
Conductive hearing impairment, Wide mouth, Narrow mouth, Hypoplasia of the pharynx, Cleft palate,... OMIM:154500
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... OMIM:615113
Achondrogenesis Type 1B
Thickened nuchal skin fold, Micrognathia, Short neck, Long philtrum, Hydrops fetalis, Micromelia,... ORPHA:93298
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Athetosis, Progressive extrapyramidal movement disorder, Abnormal head movements,... ORPHA:382
Achondrogenesis Type 1A
Thickened nuchal skin fold, Micrognathia, Short neck, Long philtrum, Hydrops fetalis, Micromelia,... ORPHA:93299
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... OMIM:125250
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Microtia, Atrioventricular canal defect, Cupped ear, Hypoplasia... ORPHA:40366
Auriculocondylar Syndrome
Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft palate, Mandibular condyle... ORPHA:137888
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Sandestig-Stefanova Syndrome
High palate, Intrauterine growth retardation, Angulated antihelix, Muscular ventricular septal de... OMIM:618804
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Micrognathia, Long philtrum, Low-set, pos... ORPHA:261120
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Craniofacial Microsomia
Wide mouth, Cleft palate, Hemivertebrae, Maxillozygomatic hypoplasia, Anotia, Underdeveloped trag... OMIM:164210
Distal 22Q11.2 Microdeletion Syndrome
Cleft palate, Branchial fistula, Pyloric stenosis, Ventricular septal defect, Ankyloglossia, Intr... ORPHA:261330
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Aplasia of the thymus ORPHA:3004
Distal Monosomy 10P
Ectopic anus, Anal atresia, Webbed neck, Cryptorchidism, Cleft palate, Micrognathia, Polycystic o... ORPHA:1580
Congenitally Uncorrected Transposition Of The Great Arteries
Anomalous pulmonary venous return, Dextrotransposition of the great arteries, Abnormal coronary a... ORPHA:860
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Apert Syndrome
Vertebral segmentation defect, Sensorineural hearing impairment, Conductive hearing impairment, N... ORPHA:87
Diabetic Embryopathy
Cryptorchidism, Microtia, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Ventricular sep... ORPHA:1926
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Lateral Meningocele Syndrome
High palate, Short neck, Ventricular septal defect, Umbilical hernia, High, narrow palate, Microg... ORPHA:2789
Weiss-Kruszka Syndrome
Horizontal crus of helix, Protruding ear, Bicuspid aortic valve, Microtia, Overfolded helix, Left... OMIM:618619
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... ORPHA:3384
Kallmann Syndrome-Heart Disease Syndrome
Sensorineural hearing impairment, Double outlet right ventricle, Cleft palate, Hypogonadotropic h... ORPHA:2326
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Overriding aorta, Ventricular septal defect, Patent ductu... OMIM:601927
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... ORPHA:2345
Intellectual Developmental Disorder, Autosomal Recessive 73
Thick upper lip vermilion, Scoliosis, Ventricular septal defect, Deep philtrum, Widely spaced tee... OMIM:619717
Mullegama-Klein-Martinez Syndrome
Sensorineural hearing impairment, Abnormal cardiac septum morphology, Hypoplastic left heart, Cle... OMIM:301022
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Increased intervertebral space, Cleft pa... OMIM:256050
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Cofs Syndrome
Sensorineural hearing impairment, Everted lower lip vermilion, Micrognathia, Prominent metopic ri... ORPHA:1466
Combined Oxidative Phosphorylation Deficiency 45
High palate, Low-set ears, Short neck OMIM:618951
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Spondylocamptodactyly
Cervical platyspondyly, Scoliosis, Camptodactyly of finger, Camptodactyly OMIM:600000
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Cleft upper lip, Conductive hearing impairment, Abnormal pinna m... OMIM:214300
Congenital Disorder Of Glycosylation, Type Ik
Intrauterine growth retardation, Splenomegaly, Thin vermilion border, Micrognathia, Nonimmune hyd... OMIM:608540
Omphalocele Syndrome, Shprintzen-Goldberg Type
Hypoplasia of the pharynx, Webbed neck, Anteroposteriorly shortened larynx, Laryngeal hypoplasia ORPHA:3164
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Platyspondyly, Genu varum, Flat acetabular roof, Vertebral... OMIM:617719
Charge Syndrome
Webbed neck, Aplasia of the semicircular canal, Cleft palate, Tracheoesophageal fistula, Ventricu... OMIM:214800
Sialidosis Type 2
Kyphosis, Splenomegaly, Hydrops fetalis, Pedal edema, Umbilical hernia, Dyspnea, Hearing impairme... ORPHA:87876
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Dens in dente, Kyphoscoliosis, Hypoplastic vertebral bodies, Webbed neck, ... OMIM:263540
Multiple Pterygium Syndrome, Escobar Variant
High palate, Triangular mouth, Cleft palate, Short neck, Umbilical hernia, Pterygium, Anterior cl... OMIM:265000
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Short neck, Rhizomelia, Intrauterine growth retardation, Vertebral seg... OMIM:611209
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Narrow mouth, Low-set, posteriorly rotated ears, Genu varum, Carious ... ORPHA:1110
Pierpont Syndrome
Large fleshy ears, Short toe, Prominent median palatal raphe, Long upper lip, Everted lower lip v... OMIM:602342
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Spinal rigidity, Micrognathia, Short neck, Scoliosis, Elbow flexion contra... ORPHA:75840
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Truncus arteriosus, Situs inversus totalis, Hypertrophi... OMIM:615415
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Zechi-Ceide Syndrome
Conductive hearing impairment, Abnormal helix morphology, Atrial septal defect, Cleft palate, Mic... ORPHA:217017
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Reduced bone mineral density, Platyspondyly, Genu varum, Ir... OMIM:617974
Lateral Meningocele Syndrome
High palate, Short neck, Biconcave vertebral bodies, Umbilical hernia, Micrognathia, Scoliosis, L... OMIM:130720
Wildervanck Syndrome
Fused cervical vertebrae, Webbed neck OMIM:314600
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Microtia OMIM:612138
Microphthalmia, Isolated, With Coloboma 7
Coloboma, Microphthalmia OMIM:614497
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, High palate, Webbed neck, Everted lower lip vermilion, Micrognat... OMIM:616549
Mucopolysaccharidosis, Type Vii
Airway obstruction, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Genu valgum,... OMIM:253220
Trisomy 1Q
Anal atresia, Narrow mouth, Microretrognathia, Cryptorchidism, Cleft palate, Camptodactyly of fin... ORPHA:261344
Dysspondyloenchondromatosis
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Shprintzen Omphalocele Syndrome
Hypoplasia of the pharynx, Webbed neck, Anteroposteriorly shortened larynx, Laryngeal hypoplasia OMIM:182210
Chromosome 9P Deletion Syndrome
High palate, Narrow mouth, Narrow palate, Atrial septal defect, High, narrow palate, Thin vermili... OMIM:158170
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation o... OMIM:600987
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Malar flattening, Small hand, Micrognathia, Oligodontia... ORPHA:1787
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Ectopic anus, Short distal phalanx of finger, Microretrognathia, Amniotic constriction ring, Clef... ORPHA:2994
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Micrognathia, Scoliosis, Ven... ORPHA:398156
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Precocious costochondra... OMIM:271630
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot, Unilateral cleft lip, Mandibular prognathi... ORPHA:1919
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Coffin-Siris Syndrome 10
Laryngomalacia, Persistence of primary teeth, Ventricular septal defect, Low-set ears, Posteriorl... OMIM:618506
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Large earlobe, Echogenic fetal bowel, Thickened ears, Shortening of all distal phala... OMIM:616809
Smith-Magenis Syndrome
Scoliosis, Morphological abnormality of the middle ear, Abnormality of the outer ear, Hearing imp... OMIM:182290
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Microdontia, Widely spaced teeth, Conical tooth... OMIM:610706
Monosomy 9P
High palate, Abnormal antihelix morphology, Narrow mouth, Congenital diaphragmatic hernia, Cleft ... ORPHA:261112
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... ORPHA:449400
Brachydactylous Dwarfism, Mseleni Type
Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality of the ank... ORPHA:2619
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cleft palate, Craniosynostosis, Ventricular septal defect, Sagittal craniosynostosis, Open mouth,... ORPHA:453504
Temple Syndrome
High palate, Intrauterine growth retardation, Cleft palate, Maturity-onset diabetes of the young,... OMIM:616222
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cleft palate, Craniosynostosis, Ventricular septal defect, Sagittal craniosynostosis, Open mouth,... ORPHA:352665
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate, Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing ... OMIM:612290
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... OMIM:600561
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Pericardial lymphangiectas... OMIM:235510
2Q24 Microdeletion Syndrome
Cleft palate, Short philtrum, Short neck, Camptodactyly of finger, Low-set, posteriorly rotated e... ORPHA:1617
Digeorge Syndrome
High palate, Hydrocele testis, Cholelithiasis, Cleft palate, Ovarian cyst, Short philtrum, Thromb... OMIM:188400
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
High palate, Kyphosis, Webbed neck, Cryptorchidism, Reduced vital capacity, Respiratory insuffici... ORPHA:178148
Microtia-Anotia
Anotia, Microtia OMIM:600674
Intellectual Disability, Birk-Barel Type
Protruding ear, High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion cont... ORPHA:166108
Lymphatic Malformation 6
Hydrocele testis, Abnormal pinna morphology, Facial edema, Genital edema, Nonimmune hydrops fetal... OMIM:616843
Brachyolmia Type 2
Platyspondyly OMIM:613678
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Aarskog-Scott Syndrome
Cleft upper lip, Genu recurvatum, Cleft palate, Everted lower lip vermilion, Abnormal vertebral s... ORPHA:915
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Cleft palate, Overfolded helix, Abnormality of the dentition, ... ORPHA:567
Congenital Disorder Of Glycosylation, Type In
Sensorineural hearing impairment, Micrognathia, Respiratory insufficiency, Short neck OMIM:612015
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Long philtrum, Patent ductus arteriosus, Protein-losing enteropathy, Low-set ears, Pe... OMIM:608104
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Atrial septal defect, Velopharyngea... ORPHA:363444
Fetal Trimethadione Syndrome
High palate, Abnormal helix morphology, Atrial septal defect, Overfolded helix, Micrognathia, Sco... ORPHA:1913
Auriculocondylar Syndrome 2
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Abnormal pinna mor... OMIM:614669
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... ORPHA:1435
Thymic Aplasia
Decreased proportion of naive T cells, Malabsorption, Coombs-positive hemolytic anemia, Aplasia o... ORPHA:83471
Adams-Oliver Syndrome 6
Ventricular septal defect, Esophageal varix, Truncus arteriosus, Splenomegaly OMIM:616589
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Fetal Gaucher Disease
High palate, Splenomegaly, Intracranial hemorrhage, Hydrops fetalis, Abnormality of the spleen, L... ORPHA:85212
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Microtia, Pulmonary lymphangiectasia, Pericardial lymphangiectasia, Intestinal lymphangiectasia, ... OMIM:616006
Vacterl With Hydrocephalus
Anal atresia, Retrognathia, Micrognathia, Hemivertebrae, Anotia, Tracheoesophageal fistula, Abnor... ORPHA:3412
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Vertebral fusion OMIM:122600
Chromosome 16Q22 Deletion Syndrome
High palate, Sensorineural hearing impairment, Wide anterior fontanel, Cryptorchidism, Micrognath... OMIM:614541
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Vertebral fusion OMIM:221950
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Vascular ring, Knee flexion contracture OMIM:603387
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Kyphosis, Hypoparathyroidism, Narrow palate, Atrial septal defect,... OMIM:618223
Monosomy 18P
Abnormal antihelix morphology, Kyphoscoliosis, Protruding ear, Tooth malposition, Cleft palate, H... ORPHA:1598
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Thickened nuchal skin fold, ... OMIM:300209
Lowry-Maclean Syndrome
Widely patent coronal suture, Intrauterine growth retardation, High, narrow palate, Cleft palate,... ORPHA:2409
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Winchester Syndrome
Kyphosis, Generalized osteoporosis, Carpal osteolysis, Arthropathy, Osteolysis involving tarsal b... OMIM:277950
Kbg Syndrome
Webbed neck, Cryptorchidism, Cleft palate, Oligodontia, Short neck, Scoliosis, Macrodontia, Long ... ORPHA:2332
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Asthma, Hepatosplenomegaly, Short neck, Scoliosis, Hypothyroidism, Deep philtrum, Mi... OMIM:619750
Rubinstein-Taybi Syndrome 1
High palate, Respiratory distress, Cleft palate, Premature thelarche, Ventricular septal defect, ... OMIM:180849
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Distal Monosomy 17Q
Abnormal cardiac septum morphology, Narrow mouth, Microtia, Prominent metopic ridge, Aplasia/Hypo... ORPHA:1597
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Low-set ears, Aplasia/Hypoplasia of the tongue, Overfolded helix, Hemiverte... ORPHA:2759
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Sprengel Deformity
Torticollis, Short neck, Cleft palate ORPHA:3181
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Tarsal synostosis, Humeroradial ... OMIM:610017
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Hyperlordosis OMIM:300718
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Elbow flexion contracture, Arthrogryposis mu... OMIM:600175
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Alkaptonuria
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... OMIM:203500
Treacher Collins Syndrome 3
Conductive hearing impairment, Cleft palate, Microtia, Micrognathia, Abnormality of the outer ear OMIM:248390
Halperin-Birk Syndrome
High palate, Optic atrophy, Umbilical hernia, Semilobar holoprosencephaly, Thick vermilion border... OMIM:618651
Fanconi Anemia, Complementation Group L
Anal atresia, Cleft palate, Microtia, Anemia, Micrognathia, Tracheoesophageal fistula, Anotia, Bo... OMIM:614083
Gm1 Gangliosidosis
Platyspondyly, Ventricular septal defect, Mandibular prognathia, Abnormal heart morphology, Cherr... ORPHA:354
Gm1-Gangliosidosis, Type I
Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Gingival overgrowth, Vacuola... OMIM:230500
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Intrauterine growth retardation, Protruding ear, Thin vermilion border, Short philtrum, Short nec... OMIM:618622
Ring Chromosome 6 Syndrome
Short distal phalanx of finger, Respiratory insufficiency, Short neck, Macrotia, Low posterior ha... ORPHA:1448
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Malar flattening, Cleft palate, Platyspondyly, Hydrops fetalis, G... ORPHA:85166
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Low-set ears, Duodenal atresia, Butterfly vertebrae, Median cleft ... OMIM:301043
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Kyphoscoliosis, Dental malocclusion, Narrow palate, Supernumerary tooth, ... OMIM:264475
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
High palate, Conductive hearing impairment, Microtia, Micrognathia, Scoliosis, Joint contracture ... OMIM:248910
Orofaciodigital Syndrome Xvii
High, narrow palate, Retrognathia, Prominent metopic ridge, Short neck, Short middle phalanx of t... OMIM:617926
Catifa Syndrome
Tooth malposition, Cleft palate, Microtia, Long philtrum, Delayed eruption of teeth, Camptodactyl... OMIM:618761
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Pseudodiastrophic Dysplasia
Phalangeal dislocation, Platyspondyly, Scoliosis, Elbow dislocation ORPHA:85174
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... OMIM:265380
Gordon Syndrome
High palate, Cryptorchidism, Cleft palate, Camptodactyly of finger, Hearing impairment, Decreased... ORPHA:376
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, High palate, Cleft palate, Microtia, Overfolded helix, Cupped ear, Ventricular s... OMIM:609654
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Holoprosencephaly
Abnormal antihelix morphology, Short neck, Ventricular septal defect, Median cleft lip and palate... ORPHA:2162
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Tongue fasciculations, Abnormal cranial ... OMIM:601596
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Low-set ears, Temporomandibular joint ankylosis, Episodic tachypnea, High, narrow pa... ORPHA:2872
Cleft Velum
Conductive hearing impairment, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Recurrent... ORPHA:99772
Mmep Syndrome
Ventricular septal defect, Cryptorchidism, Median cleft lip, Oral cleft ORPHA:3434
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Abnormal antihelix morphology, Low-set ears, Protruding ear, Abnormal h... ORPHA:261337
Distal Monosomy 10Q
Facial diplegia, High palate, Protruding ear, Cochlear malformation, Atrial septal defect, Congen... ORPHA:96148
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Morquio Syndrome C
Platyspondyly OMIM:252300
Pyle Disease
Reduced bone mineral density, Platyspondyly, Scoliosis, Delayed eruption of teeth, Limited elbow ... OMIM:265900
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Microphthalmia, Syndromic 12
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:615524
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media OMIM:221320
8P23.1 Duplication Syndrome
Adrenal insufficiency, Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal ... ORPHA:251076
Hennekam Syndrome
Arteriovenous malformation, Lymphangioma, Craniosynostosis, Short philtrum, Delayed eruption of t... ORPHA:2136
Legius Syndrome
High palate, High, narrow palate, Micrognathia, Short neck, Low-set, posteriorly rotated ears, Lo... OMIM:611431
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Protruding ear, Bicuspid aortic valve, Cleft palate, Microtia, Ste... OMIM:616367
Alg9-Cdg
Wide mouth, Short neck, Ventricular septal defect, Rhizomelia, Abnormal heart morphology, Microgn... ORPHA:79328
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Huntington Disease-Like 3
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal sign, Chorea, Spa... ORPHA:157946
Fetal Minoxidil Syndrome
Ventricular septal defect, Cryptorchidism, Low-set, posteriorly rotated ears, Umbilical hernia ORPHA:1918
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Tremor, Spasticity, Low-set ears OMIM:618718
Zimmermann-Laband Syndrome
High palate, Wide mouth, Sensorineural hearing impairment, Large fleshy ears, Supernumerary tooth... ORPHA:3473
Nuchal Bleb, Familial
Cystic hygroma, Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Rhizomelic Syndrome, Urbach Type
High palate, Kyphosis, Abnormality of the tongue, Wide anterior fontanel, Short distal phalanx of... ORPHA:3098
Sheldon-Hall Syndrome
Vertebral segmentation defect, High palate, Protruding ear, Micrognathia, Short neck, Scoliosis, ... ORPHA:1147
Paternal Uniparental Disomy Of Chromosome X
Short neck, Low-set, posteriorly rotated ears, Cubitus valgus, Decreased testicular size, Short m... ORPHA:261524
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... OMIM:132900
Distal Trisomy 18Q
High palate, Thickened nuchal skin fold, Micrognathia, Progressive intervertebral space narrowing... ORPHA:1716
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Hadziselimovic Syndrome
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... OMIM:612946
Osteogenesis Imperfecta, Type V
Recurrent fractures, Anterior radial head dislocation, Limited pronation/supination of forearm, H... OMIM:610967
Osteopathia Striata-Cranial Sclerosis Syndrome
Conductive hearing impairment, Aortic valve stenosis, High, narrow palate, Cleft palate, Retrogna... ORPHA:2780
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Type II diabetes mellitus, Membranous subvalvular aortic stenosis, Micrognathia, Respir... ORPHA:3191
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Short neck, Abnormal antitragus mor... ORPHA:3082
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm OMIM:614823
Craniosynostosis And Dental Anomalies
Stapes ankylosis, Conductive hearing impairment, Dental malocclusion, Supernumerary tooth, Papill... OMIM:614188
Meier-Gorlin Syndrome 8
Narrow mouth, Microtia, Thick vermilion border, Low-set ears, Bilateral cryptorchidism OMIM:617564
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Respiratory distress, Cleft palate, Camptodactyly of finger, Respiratory insufficien... OMIM:614399
Sandhoff Disease
Kyphosis, Cherry red spot of the macula ORPHA:796
Bruck Syndrome 1
Kyphosis, Hip contracture, Platyspondyly, Scoliosis, Osteoporosis, Protrusio acetabuli, Joint lax... OMIM:259450
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Myelomeningocele, Absent or minimally oss... ORPHA:66637
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Abnormal pinna morphology, Cryptorchidism, Craniosynostosis, Abnor... ORPHA:178303
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Widely-spaced incisors, Oligodontia, Platyspondyly, Short femoral ... OMIM:601668
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Scoliosis, Genu varum OMIM:618728
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Scoliosis, Hip dislocation, Distal joint laxity OMIM:616471
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Autism
Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Jerky head movements, Simultan... ORPHA:157941
Whistling Face Syndrome, Recessive Form
High palate, Kyphoscoliosis, Narrow mouth, Malar flattening, Micrognathia, Short neck, Long philt... OMIM:277720
Kniest-Like Dysplasia, Lethal
Narrow mouth, Hypoplastic vertebral bodies, Abnormal pinna morphology, Wide anterior fontanel, Cl... OMIM:245190
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Asthma, Sinusitis, Lymphopenia, Aplasia of the thymus, Splenomegaly, Severe B lymphocytopenia, Pl... OMIM:102700
Keratoconus Posticus Circumscriptus
Abnormal vertebral segmentation and fusion, Webbed neck, Short neck, Limited elbow extension and ... OMIM:244600
Combined Oxidative Phosphorylation Deficiency 47