Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
T-box 1
Synonyms:
nmf219

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Low-set ears, Double outlet right ventricle, Cleft upper... OMIM:231060
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Branchial fistula, Low-set ears, Cupped ear, Se... OMIM:602588
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Br... ORPHA:107
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Isotretinoin Embryopathy-Like Syndrome
Anotia, Cleft palate, Micrognathia, Microtia, Conotruncal defect OMIM:243440
Isotretinoin-Like Syndrome
Anotia, Abnormality of the pulmonary veins, Thin anteverted nares, Aplasia/Hypoplasia of the inne... ORPHA:2306
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Branchiootic Syndrome
Conductive hearing impairment, Branchial fistula, Atresia of the external auditory canal, Morphol... ORPHA:52429
Coronary Artery Dissection, Spontaneous
Coronary artery dissection OMIM:122455
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Cryptorchidism, Bulbous nose, Interrupted aortic a... OMIM:192430
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Branchial cyst, Conductive hearing impairment, Branchial fistula, Inte... OMIM:113650
Neu-Laxova Syndrome 2
Scoliosis, Short neck, Abnormality of the pinna, Low-set ears, Decreased fetal movement, Cleft pa... OMIM:616038
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Dyspnea, Resp... ORPHA:1832
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic valve, Transp... OMIM:612474
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Acrofacial Dysostosis, Cincinnati Type
Anotia, Macrotia, Patent ductus arteriosus, Choanal atresia, Acetabular dysplasia, Cleft palate, ... OMIM:616462
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle ... OMIM:611369
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Truncus arteriosus, Abnormality of the pinna, Ventricular septal defect OMIM:228940
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Slowed slurred speech, Cochlear degeneration, Ataxia OMIM:172500
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Primary Dystonia, Dyt13 Type
Postural tremor, Action tremor, Jerky head movements, Torticollis, Stereotypy, Involuntary movements ORPHA:98807
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Truncus arteriosus, Narrow mouth, Ventricular septal de... ORPHA:3426
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Oral ulcer, Lymph node hypoplasia, Otitis media OMIM:602450
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Abnormal vertebral morphology, Micrognathia, Low-set, posteriorly rotated ears, Thin ... ORPHA:2015
Johnson Neuroectodermal Syndrome
Carious teeth, Ventricular septal defect, Conductive hearing impairment, Atresia of the external ... OMIM:147770
Emanuel Syndrome
Scoliosis, Cryptorchidism, Congenital hip dislocation, Dental crowding, Patent ductus arteriosus,... OMIM:609029
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa... OMIM:609166
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Wide mouth, Microtia OMIM:251800
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Hemifacial Microsomia
Anotia, Vertebral hypoplasia, Unilateral external ear deformity, Branchial anomaly, Ventricular s... OMIM:164210
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Underdeveloped nasal alae, Conical tooth, Wide nasal bridge, H... ORPHA:90024
Stapes Ankylosis With Broad Thumbs And Toes
Underdeveloped nasal alae, Stapes ankylosis, Conductive hearing impairment, Limited neck range of... OMIM:184460
Mycophenolate Mofetil Embryopathy
Anotia, Ventricular septal defect, Atresia of the external auditory canal, Tracheomalacia, Oral c... ORPHA:268249
Emanuel Syndrome
Scoliosis, Cryptorchidism, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Coug... ORPHA:96170
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular Schwannoma OMIM:613641
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck OMIM:168400
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Truncus arteriosus, Smooth philtrum, Cleft palate OMIM:611867
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth, Abnormality of the endocrine system OMIM:274210
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Micrognathia, Webbed ne... ORPHA:2516
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Joint stiffness, Kyphoscoliosis, Stiff neck OMIM:616583
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Truncus arteriosus, Ventricular septal defect OMIM:601355
Fetal Akinesia Deformation Sequence 4
Polyhydramnios, Cryptorchidism, Micrognathia, Kyphosis, Broad neck, Posteriorly rotated ears, Low... OMIM:618393
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... ORPHA:705
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Cryptorchidism, Fetal akinesia sequence, Micrognathia, Kyphosis, Respiratory insuffici... OMIM:611890
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Hypothyroidism, Dextrocardia, Hearing impairment, Right aortic arch OMIM:617577
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
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Galactosialidosis
Cherry red spot of the macula, Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Cryptorchidism, Atrial septal defect, Truncus arteriosus, Dislocated radial head, ... ORPHA:401935
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Foam cells, Kyphosis, Anterior beaking of lumbar vertebrae, Hypoplastic... OMIM:230650
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal vertebral morphology, Restricted large joint mov... ORPHA:163665
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Atrial septal defect, Ventricular septal defect, Everted lower lip vermilion, Ten... OMIM:616898
Mohr-Tranebjaerg Syndrome
Tremor, Apraxia, Vestibular dysfunction, Abnormal pyramidal sign, Ankle clonus, Absent brainstem ... ORPHA:52368
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Sac... OMIM:618845
Recombinant Chromosome 8 Syndrome
Scoliosis, Cryptorchidism, Atrial septal defect, Downturned corners of mouth, Ventricular septal ... OMIM:179613
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Monosomy 22
Hypochromic microcytic anemia, Thin vermilion border, Aplasia of the thymus, Long philtrum, Joint... ORPHA:96123
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia, Spasticity ORPHA:99852
Spondylocostal Dysostosis 4, Autosomal Recessive
Hemivertebrae, Vertebral fusion, Unilateral vertebral artery hypoplasia, Abnormality of the odont... OMIM:613686
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Kyphosis, Back pain, Flat acetabular roof, Intervertebral space narrowing,... OMIM:271530
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Jo... OMIM:604864
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Gait ataxia, Cochlear degeneration, Head tremor, Progressive cerebellar ataxia, Hearing impairmen... ORPHA:95433
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Stapes ankylosis, Conductive hearing impairment... OMIM:185800
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Trisomy 4P
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Carious teeth, Camptodactyly of finger, ... ORPHA:1738
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Wormian bones, Hydrops fetalis, Cardiomegaly, Micrognathia, Short neck, Short fem... OMIM:616897
Phaver Syndrome
Ventricular septal defect, Overfolded helix, Conductive hearing impairment, Aplasia/Hypoplasia of... ORPHA:2876
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Vertigo, Abnormal autonomic nervous system physiology, Abnorma... ORPHA:297
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Recurrent fractures, Abn... ORPHA:93315
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Conductive hearing impairment, Atresia of the external auditory canal, Stenosis of the ex... OMIM:608257
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Trisomy 13
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Hydrops fetalis, Patent ductus arteriosu... ORPHA:3378
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Jerky head mov... ORPHA:251282
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Branchial anomaly, Abnormal mitral valve morphology, Conductive hearing impairmen... ORPHA:1131
Glossopharyngeal Neuralgia
Tongue pain, Abnormal palate morphology, Vascular dilatation, Cranial nerve compression, Abnormal... ORPHA:221098
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Abnormality of the pinna, Low-set ears, Pulm... OMIM:618164
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Congenital hip dislocation, Kyphosis, Abnormality of the pinna, Respiratory insufficie... OMIM:618291
Syngnathia
Cleft palate OMIM:119550
Ear-Patella-Short Stature Syndrome
Anotia, Cryptorchidism, Craniosynostosis, Narrow mouth, Elbow dislocation, Atresia of the externa... ORPHA:2554
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Recurrent otitis media, Double outlet right ventricle OMIM:618254
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Achondrogenesis
Thickened nuchal skin fold, Cystic hygroma, Long philtrum, Polyhydramnios, Hydrops fetalis, Short... ORPHA:932
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Swollen lip, Facial edema OMIM:619363
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Fetal Encasement Syndrome
Anotia, Mandibular aplasia, Aplasia of the sweat glands, Bilateral trilobed lungs, Protruding ton... OMIM:613630
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Ataxia, Lower limb spasticity, Abnormal auditory evoked potenti... ORPHA:320401
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Delayed skeletal maturation, Genu varum OMIM:608361
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231183
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Hemivertebrae, Low-set ears,... OMIM:220210
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Polyhydramnios, Cryptorchidism, Thin vermilion border, Bulbous nose, Narrow mouth, Micrognathia, ... OMIM:618766
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Short nose, Dental crowding, Conductive hearing impairment, Pierre-Robin sequence,... OMIM:617877
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Atrial septal defect, Macrotia, Recurrent otitis media, Patent ductus arteriosus,... ORPHA:3304
Achondrogenesis Type 1B
Thickened nuchal skin fold, Cystic hygroma, Long philtrum, Polyhydramnios, Hydrops fetalis, Short... ORPHA:93298
Achondrogenesis Type 1A
Thickened nuchal skin fold, Cystic hygroma, Long philtrum, Polyhydramnios, Hydrops fetalis, Short... ORPHA:93299
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Micrognathia, Elbow ankylosis, Low-set ears, Decreased fetal movem... ORPHA:96183
Lethal Congenital Contracture Syndrome 10
Long philtrum, Hydrops fetalis, Narrow palate, Oligohydramnios, Ventricular septal defect, Microg... OMIM:617022
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Microtia
Anotia, Hypoplastic helices, Atresia of the external auditory canal, Abnormality of the pinna, Mi... ORPHA:83463
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction ORPHA:231169
Monosomy 5P
Scoliosis, Microretrognathia, Low-set, posteriorly rotated ears, Wide nasal bridge, Small hand, I... ORPHA:281
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities, Abnormality of the middle ear ossicles, Maternal diabetes, Conducti... ORPHA:2549
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Mental Retardation, Autosomal Recessive 66
Shyness, Aggressive behavior OMIM:618221
Auriculocondylar Syndrome 3
Laryngeal cleft, Bilateral conductive hearing impairment, Question mark ear, Stenosis of the exte... OMIM:615706
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Increased b... ORPHA:2777
Burning Mouth Syndrome
Tongue pain, Abnormal fifth cranial nerve morphology, Parageusia, Xerostomia, Abnormality of the ... ORPHA:353253
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Warsaw Breakage Syndrome
Hypoplasia of the cochlea, Cupped ear, Hearing impairment OMIM:613398
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies ORPHA:93302
Fibrochondrogenesis 1
Hydrops fetalis, Narrow mouth, Patent foramen ovale, Short neck, Depressed nasal bridge, Long phi... OMIM:228520
Pierre Robin Syndrome
Pierre-Robin sequence, Cor pulmonale, Glossoptosis, Cleft palate OMIM:261800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Ventricular septal defect, Micrognathia, Abnormal aortic morphology, Tooth agenes... ORPHA:1166
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Hypertonia, Morphological abnormality of the vestibule of t... OMIM:611584
Cleft Lip/Palate
Agenesis of lateral incisor, Abnormal number of permanent teeth, Conductive hearing impairment, R... ORPHA:199306
Mosaic Trisomy 14
Cryptorchidism, Camptodactyly of finger, Micrognathia, Low-set, posteriorly rotated ears, Wide mo... ORPHA:1703
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Spastic paraparesis, Long-segment aganglionic megacolon, At... OMIM:609136
Lower Limb Malformation-Hypospadias Syndrome
Macrotia, Low-set, posteriorly rotated ears, Sacral dimple, Respiratory insufficiency, Premature ... ORPHA:2487
Arthrogryposis, Distal, Type 1C
Scoliosis, Cryptorchidism, Camptodactyly of finger, Pursed lips, Short neck, Thin vermilion borde... OMIM:619110
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Short nose, Ventricular septal defect, Low-set, posteriorly rotated ... ORPHA:261120
Mental Retardation, Autosomal Dominant 21
Cryptorchidism, Thin vermilion border, Atrial septal defect, Long philtrum, Narrow mouth, Low-set... OMIM:615502
Arnold-Chiari Malformation Type I
Adult onset sensorineural hearing impairment, Scoliosis, Vertigo, Cranial nerve compression, Cerv... ORPHA:268882
Bilateral Polymicrogyria
Facial diplegia, Drooling, Difficulty in tongue movements, Wide mouth, Low-set ears, Abnormal glo... ORPHA:268940
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormal... OMIM:617519
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Branchial cyst, Dental crowding, Mandibular prognathia, Laryngomalacia, Thin uppe... ORPHA:435938
Acrocardiofacial Syndrome
Cryptorchidism, Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Ventricular se... ORPHA:2008
Coxoauricular Syndrome
Hearing impairment, Microtia OMIM:122780
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Elbow dislocation, Condu... ORPHA:3236
Alpha-Mannosidosis
Scoliosis, Open bite, Narrow palate, Mandibular prognathia, Abnormality of the helix, Type II dia... ORPHA:61
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect OMIM:615297
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Fraxe Intellectual Disability
Recurrent hand flapping, Clumsiness, Prominent ear helix, Stereotypical body rocking ORPHA:100973
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Low-set, pos... ORPHA:1388
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Umbilical hernia, Short ribs, Absent or minimally os... OMIM:600972
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Genu varum, Delayed ossification of carpal bones OMIM:617974
Treacher-Collins Syndrome
Open bite, Cryptorchidism, Abnormal dental enamel morphology, Narrow mouth, Narrow internal audit... ORPHA:861
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus, Low-set ears, Hearing im... OMIM:617516
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Scoliosis, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Patent ductus arterio... OMIM:618316
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Hydrops fetalis, Anisospondyly, Narrow mouth, Increased placental thickness, Abno... ORPHA:1865
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
22Q11.2 Duplication Syndrome
Scoliosis, Tetralogy of Fallot, Transposition of the great arteries, Interrupted aortic arch ORPHA:1727
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Vestibular dysfunction, Ventricular septal defect, Peripheral pulmonary artery stenosis, Sensorin... OMIM:617992
Childhood Disintegrative Disorder
Impaired social interactions, Dementia, Abnormal emotion/affect behavior, Social and occupational... ORPHA:168782
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Cryptorchidism, Atrial septal defect, Truncus arte... OMIM:601186
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Incoordination, Ataxia ORPHA:79136
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements, Macrotia ORPHA:397933
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Genu varum, Advanced ossification of carpal bones, Vertebral... OMIM:617719
Mental Retardation, Autosomal Recessive 39
Anteverted ears, Stereotypy, Macrotia OMIM:615541
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Tarsal synostosis, Abnormal form of the vertebral bodies, Atresia of the external... ORPHA:3429
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Spondylocamptodactyly
Scoliosis, Camptodactyly of finger, Camptodactyly, Cervical platyspondyly OMIM:600000
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Optic ... OMIM:125250
Craniofacial Dyssynostosis
Short philtrum, Craniosynostosis, Underdeveloped nasal alae, Open mouth, Micrognathia, Patent duc... ORPHA:1516
Catel-Manzke Syndrome
Cystic hygroma, Cryptorchidism, Ventricular septal defect, Micrognathia, Abnormality of the pinna... OMIM:616145
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Oligodontia, Underdeveloped nasal alae, Branchial anomaly, Open mouth, Downturned corners of mout... ORPHA:453499
Distal Monosomy 10P
Cryptorchidism, Macrotia, Micrognathia, Low-set, posteriorly rotated ears, Webbed neck, Abnormali... ORPHA:1580
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormality of the pulmonary artery, Abnormal form of ... ORPHA:1354
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Abnormality of the mouth, Dyspnea, Abnormality of the philtrum, Respiratory distr... ORPHA:2759
Pierpont Syndrome
Uplifted earlobe, Cryptorchidism, Scoliosis, Thin vermilion border, Macrotia, Short finger, Evert... ORPHA:487825
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Anisospondyly, Generalized joint laxity, ... ORPHA:85198
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Webbed neck, Flexion contracture, Fused thoracic vertebrae, Antecub... OMIM:618469
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Sandestig-Stefanova Syndrome
Wide nasal bridge, Low-set ears, Angulated antihelix, Perimembranous ventricular septal defect, M... OMIM:618804
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Dental crowding, Short distal phalanx of finger, Sensorineural hearing impairment... OMIM:616331
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Ovarian neoplasm, Conductive hearing impairment, Hypopl... ORPHA:87
Atelosteogenesis, Type Ii
Scoliosis, Death in infancy, Respiratory insufficiency, Flat acetabular roof, Micrognathia, Short... OMIM:256050
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus... OMIM:601927
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Cofs Syndrome
Camptodactyly of finger, Prominent metopic ridge, Micrognathia, Everted lower lip vermilion, Deat... ORPHA:1466
Noonan Syndrome
Thickened nuchal skin fold, Cystic hygroma, Thickened helices, Thick lower lip vermilion, Low-set... ORPHA:648
Brachyolmia Type 2
Platyspondyly OMIM:613678
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Mosaic Trisomy 9
Scoliosis, Cryptorchidism, Polyhydramnios, Hydrops fetalis, Bulbous nose, Elbow dislocation, Pate... ORPHA:99776
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Underdeveloped nasal alae, Choanal atresia, Short distal phalanx of finger, Sensori... ORPHA:261330
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Limitation of neck motion, Widening of cervical spinal canal,... OMIM:606842
Treacher Collins Syndrome 1
Narrow mouth, Abnormal heart morphology, Conductive hearing impairment, Hypoplasia of the pharynx... OMIM:154500
Temple Syndrome
Scoliosis, Cryptorchidism, Maturity-onset diabetes of the young, Short philtrum, Recurrent otitis... OMIM:616222
Pierpont Syndrome
Scoliosis, Cryptorchidism, Thin vermilion border, Broad philtrum, Short neck, Wide nose, Broad na... OMIM:602342
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Brachyolmia Type 1, Toledo Type
Back pain, Irregular vertebral endplates, Intervertebral space narrowing, Precocious costochondra... OMIM:271630
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Narrow mouth, Downturned corners of mouth, Macrotia, Abnormal aortic arch morpholo... ORPHA:1110
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Aplasia of the thymus ORPHA:3004
Smith-Magenis Syndrome
Scoliosis, Abnormal heart morphology, Morphological abnormality of the middle ear, Abnormality of... OMIM:182290
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Cupped ear, Median cleft palate, Bilateral sensorineural hearing impair... ORPHA:40366
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Conical tooth, Microtia, first degree, Profound sensorineural hearing impairment... OMIM:610706
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Cryptorchidism, Anemia, High palate, Micrognathia, Short neck, Rhizomelia, Thrombocyto... OMIM:611209
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Diabetic Embryopathy
Cryptorchidism, Ventricular septal defect, Low-set, posteriorly rotated ears, Abnormal aortic mor... ORPHA:1926
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Low posterior hairline, Abnormality of the vertebral column, Webbed neck... ORPHA:2345
Acrocephalopolydactyly
Cystic hygroma, Abnormality of the mouth, Short neck, Short nose, Genu recurvatum, Limb undergrow... ORPHA:221054
Mucopolysaccharidosis, Type Vii
Scoliosis, Thoracolumbar kyphosis, Platyspondyly, Genu valgum, Hydrops fetalis, Recurrent upper r... OMIM:253220
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Craniosynostosis, Abnormality o... ORPHA:949
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Lateral Meningocele Syndrome
Scoliosis, Cryptorchidism, Wormian bones, Dental crowding, Atresia of the external auditory canal... ORPHA:2789
Weiss-Kruszka Syndrome
Overfolded helix, Ventricular septal defect, Low-set ears, Cupped ear, Hearing impairment, Horizo... OMIM:618619
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Low posterior hairline, Ventricular septal defect, Conductive hearing impairment, Abno... OMIM:214300
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
22Q11.2 Deletion Syndrome
Scoliosis, Cryptorchidism, Small earlobe, Carious teeth, Abnormal dental enamel morphology, Bulbo... ORPHA:567
Mullegama-Klein-Martinez Syndrome
Scoliosis, Long philtrum, Short philtrum, Bulbous nose, Smooth philtrum, Wide nasal bridge, Low-s... OMIM:301022
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Joint hypermobility, Kyphosis, Flexion contracture, Spinal rigidity OMIM:618323
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Oligodontia, Bulbous nose, Abnormal form of the vertebral bodies... ORPHA:1787
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Abnormality of the amniotic fluid, Death in infancy, Nonimmune hydrops fet... OMIM:608540
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Phalangeal dislocation, Elbow dislocation ORPHA:85174
Lateral Meningocele Syndrome
Scoliosis, Cryptorchidism, Wormian bones, Dental crowding, Patent ductus arteriosus, High palate,... OMIM:130720
Fetal Minoxidil Syndrome
Cryptorchidism, Ventricular septal defect, Low-set, posteriorly rotated ears, Umbilical hernia, D... ORPHA:1918
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Stereotypy OMIM:609425
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Short neck OMIM:300718
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Low posterior hairline, Dens in dente, Tarsal synostosis, Webbed neck, Mandibu... OMIM:263540
Fetal Trimethadione Syndrome
Scoliosis, Atrial septal defect, Short nose, Ventricular septal defect, Overfolded helix, Low-set... ORPHA:1913
Sialidosis Type 2
Hydrops fetalis, Dyspnea, Kyphosis, Pedal edema, Umbilical hernia, Hearing impairment, Ascites, S... ORPHA:87876
Intellectual Disability, Birk-Barel Type
Short philtrum, Congenital finger flexion contractures, Open mouth, Limited elbow flexion/extensi... ORPHA:166108
Kbg Syndrome
Scoliosis, Cryptorchidism, Oligodontia, Long philtrum, Underdeveloped nasal alae, Macrotia, Thora... ORPHA:2332
Ring Chromosome 6 Syndrome
Low posterior hairline, Macrotia, Respiratory insufficiency, Short distal phalanx of finger, Wide... ORPHA:1448
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Scoliosis, Cryptorchidism, Open bite, Craniosynostosis, Lambdoidal craniosynostosis, Underdevelop... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Scoliosis, Cryptorchidism, Open bite, Craniosynostosis, Lambdoidal craniosynostosis, Underdevelop... ORPHA:352665
Coffin-Siris Syndrome 10
Ventricular septal defect, Persistence of primary teeth, Laryngomalacia, Posteriorly rotated ears... OMIM:618506
Monosomy 18P
Abnormality of the antihelix, Carious teeth, Low posterior hairline, Short philtrum, Downturned c... ORPHA:1598
Morquio Syndrome C
Platyspondyly OMIM:252300
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Long philtrum, Conductive hearing impairment, High palate, Abnormality of the pinna, Low-set ears... OMIM:618500
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia, Cleft soft palate, V... ORPHA:99772
Igg4-Related Aortitis
Low back pain, Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid... ORPHA:449400
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Cardiomegaly, Optic disc pallor, Perimembranous ven... OMIM:619170
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Aarskog-Scott Syndrome
Cryptorchidism, Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum... ORPHA:915
Monosomy 9P
Anotia, Long philtrum, Abnormality of the antihelix, Cryptorchidism, Scoliosis, Narrow mouth, Sho... ORPHA:261112
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Cryptorchidism, Oligodontia, Narrow palate, Narrow mouth, Pericardial effusion, Sensor... OMIM:235510
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Stillbirth, Pulmonic stenosis, Aortic valve stenosis,... OMIM:615415
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respira... OMIM:614399
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Omphalocele Syndrome, Shprintzen-Goldberg Type
Anteroposteriorly shortened larynx, Webbed neck, Hypoplasia of the pharynx, Laryngeal hypoplasia ORPHA:3164
Lymphatic Malformation 6
Scoliosis, Hydrocele testis, Polyhydramnios, Facial edema, Periorbital edema, Micrognathia, Webbe... OMIM:616843
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Microretrognathia, Low-set, posteriorly rotated ears, Hypothyroidism, Ab... ORPHA:2994
Pyle Disease
Scoliosis, Platyspondyly, Genu valgum, Limited elbow extension, Delayed eruption of teeth, Reduce... OMIM:265900
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Shprintzen Omphalocele Syndrome
Laryngeal hypoplasia, Anteroposteriorly shortened larynx, Webbed neck, Hypoplasia of the pharynx,... OMIM:182210
Ehlers-Danlos Syndrome, Classic-Like, 2
Cryptorchidism, Low posterior hairline, Macrotia, Micrognathia, Webbed neck, High palate, Umbilic... OMIM:618000
Bethlem Myopathy 2
Hip dislocation, Kyphosis, Flexion contracture, Joint laxity OMIM:616471
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Hearing impairment, Intestinal lymphangiectasia, Pulmonary lymphangiectasia, Pericardial lymphang... OMIM:616006
Chromosome 16Q22 Deletion Syndrome
Cryptorchidism, Wormian bones, Wide anterior fontanel, Micrognathia, Wide nasal bridge, Posterior... OMIM:614541
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Wildervanck Syndrome
Webbed neck, Fused cervical vertebrae OMIM:314600
8P23.1 Duplication Syndrome
Long philtrum, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Hearing impa... ORPHA:251076
Oculoauriculofrontonasal Syndrome
Scoliosis, Narrow mouth, Underdeveloped nasal alae, Ventricular septal defect, Conductive hearing... ORPHA:398156
Vacterl With Hydrocephalus
Anotia, Cryptorchidism, Abnormal form of the vertebral bodies, Esophageal atresia, Abnormality of... ORPHA:3412
Simpson-Golabi-Behmel Syndrome, Type 2
Thickened nuchal skin fold, Short nose, Congenital hip dislocation, Recurrent upper respiratory t... OMIM:300209
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Scoliosis, Pursed lips, Long philtrum, Micrognathia, Umbilical hernia, Wide nasal bridge, Respira... OMIM:616266
Zechi-Ceide Syndrome
Thin vermilion border, Atrial septal defect, Oligodontia, Short philtrum, Downturned corners of m... ORPHA:217017
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Smooth ... ORPHA:363444
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Spondylolysis, Ankle clonus, Os odontoideum, Lumbar hyperlordosis, Resp... OMIM:600561
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Hyperphosphatasia With Mental Retardation Syndrome 6
Shortening of all distal phalanges of the fingers, Polyhydramnios, Thickened helices, Bulbous nos... OMIM:616809
Microtia-Anotia
Anotia, Microtia OMIM:600674
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Bulbous nose, Mandibular prognathia, Deep philtrum, Death ... OMIM:618622
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Bulbous nose, Micrognathia, Wide mouth, Hypodontia, Cleft pa... ORPHA:3473
Distal Trisomy 18Q
Thickened nuchal skin fold, Cryptorchidism, Carious teeth, Camptodactyly of finger, Short nose, A... ORPHA:1716
Holoprosencephaly 13, X-Linked
Butterfly vertebrae, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Thoracic ... OMIM:301043
Digeorge Syndrome
Scoliosis, Decreased circulating parathyroid hormone level, Patent ductus arteriosus, High palate... OMIM:188400
Gm1 Gangliosidosis
Scoliosis, Hydrops fetalis, Narrow mouth, Mandibular prognathia, Patent ductus arteriosus, Premat... ORPHA:354
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Genu varum OMIM:618728
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Bruck Syndrome 1
Osteoporosis, Platyspondyly, Scoliosis, Protrusio acetabuli, Joint laxity, Kyphosis, Pterygium, I... OMIM:259450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Vascular ring, Thoracic scoliosis, Knee flexion contracture OMIM:603387
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Fetal Gaucher Disease
Hydrops fetalis, Stillbirth, Fetal akinesia sequence, Low-set, posteriorly rotated ears, Death in... ORPHA:85212
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morphology, Enlarged interphalang... ORPHA:1159
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Micrognathia, Kyphosis, Abnormal palate morphology, Decreased fetal movement, Torticol... ORPHA:75840
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Temporomandibular joint ankylosis, Abnormal heart morphology, Low-set, posteriorl... ORPHA:2872
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Vertebral segmentation defect OMIM:221950
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Atrial septal defect, Narrow palate, Broad nasal tip, Overfolded helix, Kyphosis, Pate... OMIM:618223
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cryptorchidism, Downturned corners of mouth, Patent ductus arteriosus, Micrognathia, Short neck, ... OMIM:217980
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Abnormal vocal cord morphology, Synostosis of carpal bones, Micrognathia, Low-set, pos... ORPHA:3191
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Ankle clonus, Sensorineural hearing impairment, ... ORPHA:1435
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Underdeveloped nasal a... OMIM:608572
Holoprosencephaly
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Branchial anomaly, Spinal dysraphism, Ch... ORPHA:2162
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Trisomy 1Q
Cystic hygroma, Cryptorchidism, Camptodactyly of finger, Polyhydramnios, Hydrops fetalis, Narrow ... ORPHA:261344
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Kyphosis, Thoracolumbar scoliosis, Knee flexion contracture, Hip ... OMIM:313420
Spondylocostal Dysostosis 5
Scoliosis, Low back pain, Hemivertebrae, Vertebral fusion, Short neck, Butterfly vertebrae OMIM:122600
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Hadziselimovic Syndrome
Prominent nasal bridge, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect,... OMIM:612946
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Left superior vena cava draining to coronary sinus, D... ORPHA:185
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Long philtrum, Low posterior hairline, Bulbous nose, Underdeveloped nasal alae, Micrognathia, Web... OMIM:616549
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Atkin-Flaitz Syndrome
Macrotia, Everted lower lip vermilion, Macroorchidism, Abnormality of the dentition, Thick vermil... ORPHA:1193
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Chromosome 8Q21.11 Deletion Syndrome
Short philtrum, Downturned corners of mouth, Micrognathia, Wide nasal bridge, Low-set ears, Senso... OMIM:614230
Orofaciodigital Syndrome Type 2
Hypoplasia of teeth, Tongue nodules, Natal tooth, Hamartoma of tongue, High palate, Micrognathia,... ORPHA:2751
Sheldon-Hall Syndrome
Scoliosis, Tarsal synostosis, Micrognathia, Webbed neck, Aplasia/Hypoplasia of the radius, Wide n... ORPHA:1147
Congenital Disorder Of Glycosylation, Type In
Micrognathia, Sensorineural hearing impairment, Short neck, Respiratory insufficiency OMIM:612015
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Kyphosis, Knee flexion contracture,... OMIM:600175
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Short philtrum, Low-set, posteriorly rotated ears, Central apnea, Cleft ... ORPHA:1617
Distal Monosomy 10Q
Atrial septal defect, Short nose, Cochlear malformation, Patent ductus arteriosus, Smooth philtru... ORPHA:96148
Mulibrey Nanism
Enamel hypoplasia, Myocardial fibrosis, Hydrops fetalis, Dental crowding, Hypoplastic frontal sin... OMIM:253250
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Irregularity of vertebral bodies, Genu valgum OMIM:609324
Gillessen-Kaesbach-Nishimura Syndrome
Thickened nuchal skin fold, Polyhydramnios, Wide anterior fontanel, Underdeveloped nasal alae, Ab... OMIM:263210
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Flat acetabular roof, Joint stiffness, Acetabula... ORPHA:750
Mmep Syndrome
Oral cleft, Cryptorchidism, Median cleft lip, Ventricular septal defect ORPHA:3434
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae ORPHA:1436
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Platyspondyly, Hip subluxation, Protrusio acetabuli, Abnormality of the ... ORPHA:99642
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Knee pain, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxati... OMIM:184100
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Mandibular prognathia, Low-set ears, Unilateral cleft lip, Tetr... ORPHA:1919
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Orofacial Cleft 15
Cryptorchidism, Agenesis of lateral incisor, Bulbous nose, Low-set ears, Protruding ear, Palate f... OMIM:616788
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Oligodontia, Bulbous nose, Underdeveloped nasal alae, Aplasia of the distal phalan... ORPHA:364577
German Syndrome
Cryptorchidism, Camptodactyly of finger, Open mouth, Micrognathia, Lymphedema, Everted lower lip ... ORPHA:2077
Sprengel Deformity
Torticollis, Short neck, Cleft palate ORPHA:3181
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Atresia of the external auditory canal, Short foot, Sho... OMIM:264475
Hennekam Syndrome
Craniosynostosis, Hydrops fetalis, Narrow mouth, Pericardial effusion, Respiratory insufficiency,... ORPHA:2136
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Platyspondyly, Aplasia of the thymus, Autoimmune thrombocytopenia, Auto... OMIM:102700
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Abnormality of the antihelix, Conductive hearing impairment, Aplasia/Hypoplasia o... ORPHA:3082
Gm1-Gangliosidosis, Type I
Scoliosis, Cherry red spot of the macula, Hydrops fetalis, Vacuolated lymphocytes, Beaking of ver... OMIM:230500
Cerebellofaciodental Syndrome
Scoliosis, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngomalacia, Low-s... OMIM:616202
Distal 22Q11.2 Microduplication Syndrome
Abnormality of the antihelix, Bulbous nose, Optic disc coloboma, Patent ductus arteriosus, Abnorm... ORPHA:261337
Ring Chromosome 14 Syndrome
Low-set ears, High palate, Short neck, Anteverted nares, Depressed nasal bridge OMIM:616606
Gordon Syndrome
Cryptorchidism, Camptodactyly of finger, Decreased muscle mass, Hearing impairment, Cleft palate,... ORPHA:376
Cornelia De Lange Syndrome 5
Cryptorchidism, Limited elbow extension, Thin vermilion border, Long philtrum, Anteverted nares, ... OMIM:300882
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Hyperlordosis, Delayed eruption of teeth, Conductive hearing impairment, High, narrow ... ORPHA:2780
Anauxetic Dysplasia 1
Cervical subluxation, Platyspondyly, Short neck, Delayed ossification of carpal bones OMIM:607095
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Short nose, Downturned corners o... ORPHA:2409
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Whistling Face Syndrome, Recessive Form
Long philtrum, Short neck, Narrow mouth, Underdeveloped nasal alae, Trismus, Malar flattening, Mi... OMIM:277720
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Stillbirth, Short ribs, Laryngeal calcification, Premature birth... OMIM:215045
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Short neck, Drooling, Macrotia, Excessive salivation, Macroorchidism, Abnormality of the dentitio... OMIM:300055
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Atresia of the external auditory canal, Chronic otitis media OMIM:221320
Braddock Syndrome
Scoliosis, Overfolded helix, Pulmonary fibrosis, Micrognathia, Congenital muscular torticollis, P... ORPHA:52047
Auriculocondylar Syndrome 2
Apnea, Short mandibular rami, Narrow mouth, Dental crowding, Overfolding of the superior helices,... OMIM:614669
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Patent duct... OMIM:612541
Alkaptonuria
Intervertebral disc degeneration, Low back pain, Kyphosis, Limited hip movement, Limitation of kn... OMIM:203500
Huntington Disease-Like 3
Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progressive gait ... ORPHA:157946
Brachydactyly, Type B1
Hypoplastic sacrum, Camptodactyly, Hemivertebrae, Vertebral fusion, Delayed cranial suture closur... OMIM:113000
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Thin vermilion border, Narrow mouth, Phocomelia, High palate, Micrognathia, Short... OMIM:266910
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Osteogenesis Imperfecta, Type V
Joint hypermobility, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
Maternal Phenylketonuria
Long philtrum, Hypoplastic helices, Ventricular septal defect, Abnormal heart morphology, Esophag... ORPHA:2209
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Scoliosis, Underdeveloped nasal alae, Conductive hearing impairment, Joint contracture of the 5th... OMIM:248910
Anophthalmia Plus Syndrome
Spina bifida, Low-set, posteriorly rotated ears, Choanal atresia, Aplasia/Hypoplasia of the earlo... ORPHA:1104
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Abnormality of the tongue, Wide anterior fontanel, Abnormal form of the ... ORPHA:3098
Distal Trisomy 6P
Aplasia/Hypoplasia of the earlobes, Low-set ears, Abnormality of the antitragus, Short neck, Prom... ORPHA:1745
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Platyspondyly, Hydrops fetalis, Hypoplastic scapulae, Micromelia, Short distal ph... ORPHA:85166
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular sep... ORPHA:477817
Epidermolysis Bullosa Simplex With Pyloric Atresia
Microtia OMIM:612138
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Underdeveloped nasal alae, Macrotia, Micrognathia, Diastema, Attached earlobe, Low-set ears, Dent... ORPHA:436245
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Thick vermilion border, Umbilical hernia, Perimembranous ventricular... OMIM:618651
Distal Monosomy 17Q
Narrow mouth, Abnormality of the philtrum, Aplasia/Hypoplasia of the uvula, Abnormal form of the ... ORPHA:1597
Microtriplication 11Q24.1
Scoliosis, Genu valgum, Short philtrum, Irregularly spaced teeth, Smooth philtrum, Attached earlo... ORPHA:289522
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Prominent median palatal raphe, Genu recurvatum, Kyphosis, Macroorchidism... OMIM:300602
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Genu valgum, Joint dislocation, Abnormality of the wrist, Kyphoscoliosis ORPHA:93316
8Q22.1 Microdeletion Syndrome
Cryptorchidism, Abnormality of the antihelix, Craniosynostosis, Camptodactyly of finger, Long phi... ORPHA:178303
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Overfolded helix, Aplasia/Hypoplasia of the earlobes, Hypogonadism, Short neck, P... ORPHA:3409
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, High palate, Short neck OMIM:618951
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... OMIM:178110
Mohr Syndrome
Scoliosis, Wormian bones, Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, C... OMIM:252100
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Peripheral pulmonary artery stenosis, Flexion contracture of the 2nd toe,... ORPHA:2712
Paternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Low posterior hairline, Low-set, posteriorly rotated ears, Short metacarpal, Decr... ORPHA:261524
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Overfolded helix, Hypertonia, Ataxia, Low-set ears, Myoclonus, Stereotypy, L... OMIM:619092
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Overfolded helix, Low-set ears, Cupped ear, Microtia OMIM:609654
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Cryptorchidism, Webbed neck, Kyphosis, Respiratory insufficiency, Low-set ears, High p... ORPHA:178148
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, ... ORPHA:3405
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Natal tooth, Premature birth, Aplastic clavicle, Micrognathia, D... ORPHA:50945
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Platyspondyly, Long philtrum, Low-set, posteriorly rotated ears, Dehydration, Sen... OMIM:618958
Greenberg Dysplasia
Polyhydramnios, Tracheal calcification, Intestinal malrotation, Cardiomegaly, Hypoplastic vertebr... OMIM:215140
Distal Monosomy 7Q36
Cryptorchidism, Short neck, Bulbous nose, Macrotia, Wide mouth, Non-midline cleft lip, Cleft pala... ORPHA:1636
Legius Syndrome
Short neck, Low posterior hairline, Low-set, posteriorly rotated ears, High palate, High, narrow ... OMIM:611431
Schinzel-Giedion Syndrome
Scoliosis, Wormian bones, Central hypothyroidism, Abnormality of the stapes, Short distal phalanx... ORPHA:798
Diamond-Blackfan Anemia 10
Ventricular septal defect, Conductive hearing impairment, Atresia of the external auditory canal,... OMIM:613309
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Kyphoscoliosis OMIM:612847
Nuchal Bleb, Familial
Cystic hygroma, Fetal cystic hygroma, Hydrops fetalis, Stillbirth OMIM:257350
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Respiratory insufficiency, Decreased fetal movem... OMIM:253300
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Microtia, Hearing Impairment, And Cleft Palate
Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, Increased in... OMIM:612290
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, Microcytic anemia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the e... ORPHA:98791
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Platyspondyly, Genu valgum, Oligodontia, Joint contracture of the 5th finger, Irregular vertebral... OMIM:601668
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Prominent median palatal raphe, Genu recurvatum, Kyphosis, Macroorchidism... OMIM:300431
Chromosome 6Q11-Q14 Deletion Syndrome
Long philtrum, Short nose, Abnormality of the pinna, Umbilical hernia, Low-set ears, Thin upper l... OMIM:613544
Kniest-Like Dysplasia, Lethal
Polyhydramnios, Platyspondyly, Atrial septal defect, Wide anterior fontanel, Coronal cleft verteb... OMIM:245190
Orofaciodigital Syndrome Xvii
Short middle phalanx of the 2nd finger, High, narrow palate, Low-set ears, Hearing impairment, Te... OMIM:617926
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility ORPHA:168555
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia, Abnormality of the outer ear OMIM:248390
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Choreoathetosis, Oculomotor apraxia, Ataxia OMIM:245348
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Br... ORPHA:157941
Keratoconus Posticus Circumscriptus
Webbed neck, Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation ... OMIM:244600
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of the radius, Fibular aplasia, Humeroradial synostosis, Short nose, H... ORPHA:2879
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Branchiootic Syndrome 3
Sensorineural hearing impairment, Branchial cyst OMIM:608389
Autosomal Dominant Optic Atrophy Plus Syndrome
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sens... ORPHA:1215
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Hip dislocation, Short neck OMIM:615583
Acrootoocular Syndrome
Delayed eruption of teeth, Short toe, Conductive hearing impairment, Atresia of the external audi... ORPHA:2980
Charge Syndrome
Scoliosis, Cryptorchidism, Polyhydramnios, Narrow mouth, Overfolded helix, Choanal atresia, Paten... ORPHA:138
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-ventricular tunnel, Aortic... ORPHA:3400
Mucopolysaccharidosis, Type Ix
Periarticular soft-tissue mass, Chondrocalcinosis, Recurrent otitis media, Acetabular erosions, D... OMIM:601492
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Short fifth metatarsal, Underdeveloped nasal alae, Dysplastic sacrum, ... OMIM:134780
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Atresia of the external auditory canal, Bilateral conductive hearing impairmen... ORPHA:2010
Multiple Synostoses Syndrome 1