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Gene: Tbx1 MGI:98493

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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
anophthalmia Tbx1em1(IMPC)Mbp HET Early adult 0.00
edema Tbx1em1(IMPC)Mbp HOM E15.5 0.00
abnormal blood vessel morphology Tbx1em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Tbx1em1(IMPC)Mbp HET E15.5 0.00
abnormal blood vessel morphology Tbx1em1(IMPC)Mbp HET E15.5 0.00
hyperactivity Tbx1em1(IMPC)Mbp HET Early adult 6.66×10-05
preweaning lethality, complete penetrance Tbx1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal eye morphology Tbx1em1(IMPC)Mbp HET Early adult 0.00
abnormal pancreas morphology Tbx1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Tbx1em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Tbx1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Tbx1em1(IMPC)Mbp HET E15.5 0.00
persistence of hyaloid vascular system Tbx1em1(IMPC)Mbp HET Early adult 1.34×10-07
abnormal skin morphology Tbx1em1(IMPC)Mbp HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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Gross Morphology Embryo E14.5-E15.5

Images

20 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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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 Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Cleft upper lip, Cleft palate, Right aortic arch, Transp... OMIM:231060
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Coronary Artery Dissection, Spontaneous
Cystic medial necrosis, Coronary artery dissection OMIM:122455
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Cleft palate, Conotruncal defect, Anotia, Microtia OMIM:243440
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio... ORPHA:2306
Scheuermann Disease
Kyphosis, Osteochondrosis, Morbus Scheuermann OMIM:181440
Branchiootic Syndrome
Branchial fistula, Facial palsy, Micrognathia, Sensorineural hearing impairment, Abnormality of t... ORPHA:52429
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... OMIM:113650
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... OMIM:620294
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm... OMIM:192430
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Short neck, Micrognathia, Dyspnea, Gingival fibro... ORPHA:1832
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Decreased fetal movement, Posteriorly rotated ears, Polyhydramnios, Short neck,... OMIM:618393
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Skraban-Deardorff Syndrome
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid... OMIM:617616
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Hemivertebrae, Contracture of the proximal... OMIM:618223
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Shor... OMIM:615583
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage o... ORPHA:3426
Toriello-Carey Syndrome
Abnormal pinna morphology, Aganglionic megacolon, Micrognathia, Wide anterior fontanel, Patent du... ORPHA:3338
Warsaw Breakage Syndrome
Ventricular septal defect, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Wide mouth... OMIM:613398
You-Hoover-Fong Syndrome
Kyphoscoliosis, Accessory oral frenulum, Cleft palate, Vascular ring, Coarctation of aorta, Doubl... OMIM:616954
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Micrognathia, Short neck, Cleft pala... ORPHA:2015
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Atrial septal defect, Pre... OMIM:609029
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Micrognathia, Kyphosis, Cryptorchidism, Fetal akinesia sequence, Respiratory insuffic... OMIM:611890
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck OMIM:601355
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment OMIM:251800
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Marcus-Gunn Syndrome
Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Cleft lip, Cleft palate, Abnorm... ORPHA:91412
Chromosome 22Q11.2 Deletion Syndrome, Distal
Smooth philtrum, Thin upper lip vermilion, Truncus arteriosus, Cleft palate OMIM:611867
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Emanuel Syndrome
Redundant neck skin, Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Coug... ORPHA:96170
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Retrognathia, Cleft palate, An... OMIM:616462
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Polyhydramnios, Micrognathia, Downturned corners of mouth, At... OMIM:620186
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Overfolded helix, Abnormal antihelix morp... ORPHA:79113
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Limit... OMIM:184460
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Coarctation ... ORPHA:268249
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Anomalous origin of left coronary artery from the pulmonary arte... OMIM:618845
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
Maternal Uniparental Disomy Of Chromosome 9
Decreased fetal movement, Kyphoscoliosis, Short neck, Micrognathia, Congenital hypothyroidism, Pa... ORPHA:96183
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Galactosialidosis
Cherry red spot of the macula, Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Parastremmatic Dwarfism
Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Goiter, Right aortic arch, Hypothyroidism, Hearing impairment OMIM:617577
Treacher Collins Syndrome 2
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Anotia, Microtia, H... OMIM:613717
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Micrognathia, High, narrow palate, Cleft palate, Abnormal ... ORPHA:2516
Lipedema
Edema OMIM:614103
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Double outlet right ventricle, Dextrocardia OMIM:618254
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Sensorineural hearing impairment, Supernumerary tooth, Abnormal cranial nerve morp... ORPHA:90024
Burning Mouth Syndrome
Abnormality of taste sensation, Abnormal fifth cranial nerve morphology, Parageusia, Abnormality ... ORPHA:353253
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor... OMIM:617478
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Otofaciocervical Syndrome 1
Mixed hearing impairment, Long neck, Hypoplasia of the cochlea, Cupped ear, Conductive hearing im... OMIM:166780
Mullegama-Klein-Martinez Syndrome
Facial palsy, Micrognathia, Sensorineural hearing impairment, Absent stapes, Microtia, Atresia of... OMIM:301022
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Micrognathia, Abno... OMIM:179613
Monosomy 22
Low-set, posteriorly rotated ears, Aplasia of the thymus, Short neck, Hypochromic microcytic anem... ORPHA:96123
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency,... OMIM:614701
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Genu valgum, Irregular vertebral endplates, Platys... OMIM:609223
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Symphalangism, Proximal, 1A
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ... OMIM:185800
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Brachyolmia Type 1, Hobaek Type
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet... OMIM:271530
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Short n... OMIM:617022
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Thin upper lip vermilion, Ventricular septal defect, Inte... ORPHA:401935
Syngnathia
Cleft palate OMIM:119550
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Death in infancy, Decreased fetal movement, Polyhydramnios, Micrognathia, Short neck, Cryptorchid... OMIM:618766
Phaver Syndrome
Posteriorly rotated ears, Ventricular septal defect, Myelomeningocele, Aplasia/Hypoplasia of the ... ORPHA:2876
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Oral ulcer, Lymph... OMIM:602450
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... OMIM:300845
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... ORPHA:163665
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr... OMIM:616583
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... OMIM:604864
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate OMIM:261800
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Short neck, Cardiomegaly, Micrognathia, Hydrops fetalis, Large fleshy ears, Short... OMIM:616897
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Camptodactyly of finger, Short neck, Cryptorchidism, Increased nuch... OMIM:619110
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Posteriorly rotated ears, Cryptorchidism, Patent ductus arteriosus, Cleft palate, ... OMIM:615502
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Trisomy 4P
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Carious teeth, Cryptorchi... ORPHA:1738
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Conductive hea... OMIM:608257
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Tick-Borne Encephalitis
Stiff neck, Facial palsy, Hearing impairment, Vertigo, Abnormal glossopharyngeal nerve morphology... ORPHA:297
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir... ORPHA:2554
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Oculoauriculovertebral Spectrum With Radial Defects
Maternal diabetes, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abno... ORPHA:2549
Glossopharyngeal Neuralgia
Ear pain, Cranial nerve compression, Schwannoma, Abnormal palate morphology, Abnormal glossophary... ORPHA:221098
Trisomy 13
Atrial septal defect, Median cleft lip, Ventricular septal defect, Abnormality of the dentition, ... ORPHA:3378
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Micrognathia, Cryptorchidism... ORPHA:1131
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Pierre-Robin sequence, Anter... OMIM:617877
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Stiff neck, Myelopathy, Vertigo, Cranial nerve compressi... ORPHA:268882
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
7Q31 Microdeletion Syndrome
Torticollis, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Hypoplasia of the semicircular... ORPHA:251061
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Micrognathia, Cryptorchidism, P... ORPHA:3304
Aorta Coarctation
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... ORPHA:1457
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Posteriorly rotated ears, Miscarriage, Micromelia, Short neck, Micrognathia, Crypt... ORPHA:1865
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Monosomy 5P
Low-set, posteriorly rotated ears, Microretrognathia, Short neck, Small hand, High palate, Scolio... ORPHA:281
Acrocardiofacial Syndrome
Joint dislocation, Death in infancy, Hyperthyroidism, Mitral stenosis, Ventricular septal defect,... ORPHA:2008
Lower Limb Malformation-Hypospadias Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Premature birth, Short neck, Abnormality of the... ORPHA:2487
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal optic disc morphology, Low-set ears... OMIM:617516
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Noonan Syndrome
Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Abnormal pulmonary valve morpholog... ORPHA:648
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Ventricular septal defect, Posteriorly rotated ears, Cleft lip, Cleft... OMIM:616898
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Transposition of the great arteries, Scoliosis ORPHA:1727
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae,... OMIM:230650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Atrial septal defec... ORPHA:453499
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Microphthalmia, Syndromic 9
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic left atrium, Mul... OMIM:601186
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Abnormal heart morphology, Wide mouth, Hypoplasia of the pharynx... OMIM:154500
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Subglottic stenosis, Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Intestina... OMIM:619657
Spastic Paraplegia 18B, Autosomal Recessive
Ankle clonus, Kyphosis, Joint contracture, Scoliosis OMIM:611225
Sandestig-Stefanova Syndrome
Short neck, Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septa... OMIM:618804
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Sacral dimple, Craniosynostosis, Short neck, Micrognathia, Patent ductus arteriosus, Short philtr... ORPHA:1516
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Coxoauricular Syndrome
Microtia, Hearing impairment OMIM:122780
Spondyloepiphyseal Dysplasia, Kimberley Type
Delayed skeletal maturation, Platyspondyly, Genu varum, Genu valgum OMIM:608361
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Micrognathia, Cryptorchidism, Cleft palate, Protruding ear, Tooth agen... ORPHA:1166
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormality of the pulmonary artery, Abnormal form of the vertebral bodies, Accelerated... ORPHA:1354
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of the middle ear, Atres... ORPHA:3236
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Ankle flexion c... ORPHA:435938
Meacham Syndrome
Accessory spleen, Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardi... OMIM:608978
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... OMIM:618469
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Bilateral Polymicrogyria
4-layered lissencephaly, Sensorineural hearing impairment, Perisylvian polymicrogyria, Wide mouth... ORPHA:268940
Schizophrenia 15
Hyperactivity OMIM:613950
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Fibrochondrogenesis 1
Short neck, Hydrops fetalis, Short palm, Patent foramen ovale, Widely patent sagittal suture, Pos... OMIM:228520
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral... OMIM:617992
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... OMIM:600987
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Con... ORPHA:861
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Nemaline Myopathy 9
High palate, Polyhydramnios, Ventricular septal defect, Cleft palate OMIM:615731
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Short neck, Open bite, Kyphosis, Splenomegaly, ... ORPHA:61
Acitretin/Etretinate Embryopathy
Cupped ear, Conotruncal defect, Microtia, High palate, Bilateral sensorineural hearing impairment... ORPHA:40366
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Achondrogenesis, Type Ib
Edema, Polyhydramnios, Micromelia, Breech presentation, Hydrops fetalis, Respiratory insufficienc... OMIM:600972
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, High palate, Widely spaced teeth, Low-set ears, Pulmoni... OMIM:618205
Mosaic Trisomy 9
Polyhydramnios, Short neck, Micrognathia, Asplenia, Micromelia, Hemivertebrae, Hydrops fetalis, H... ORPHA:99776
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Atrial septal defect, Ventricular septal defect, Camptodactyly... ORPHA:1388
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Non-midline cleft lip, Abnormality of the parathyroid gland, Cleft palate, Microt... ORPHA:3429
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchid... ORPHA:1703
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Patent ductus arter... ORPHA:860
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Pierpont Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Uplifted earlobe, Short neck, Cryptorchidism,... ORPHA:487825
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Atrial septal defect, Branchial fistula, Premature birth, Hyperl... ORPHA:261330
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Lateral Meningocele Syndrome
Dental crowding, Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bo... ORPHA:2789
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Exaggerated cupid's bow, Micrognath... ORPHA:261120
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Posteriorly rotated ears, Underfolded helix, Parachute mitral valve, Ve... OMIM:618316
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Short neck, Abnormal sacrum morphology, Low poster... ORPHA:2345
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... OMIM:601927
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Cupped ear, Protruding ear,... OMIM:618619
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
Charge Syndrome
Secundum atrial septal defect, Holoprosencephaly, Pulmonary artery atresia, Atrial septal defect,... OMIM:214800
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Chromosome 9P Deletion Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Short neck, High, ... OMIM:158170
Combined Oxidative Phosphorylation Deficiency 45
High palate, Low-set ears, Short neck OMIM:618951
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Achondrogenesis
Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Short neck, Micromelia, Hydrops fetalis... ORPHA:932
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... OMIM:609425
Craniofacial Microsomia 1
Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conductive hearing impairment, Du... OMIM:164210
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hy... ORPHA:87
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Ventricular septal defect, Cryptorchidism, Microtia, Abnormal ... ORPHA:1926
Distal Deletion 10P
Low-set, posteriorly rotated ears, Short neck, Micrognathia, Hearing abnormality, Cryptorchidism,... ORPHA:1580
Kallmann Syndrome-Heart Disease Syndrome
Short lingual frenulum, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery f... ORPHA:2326
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Chondrodysplasia, Blomstrand Type
Premature birth, Polyhydramnios, Micrognathia, Fetal ascites, Micromelia, Advanced ossification o... OMIM:215045
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Cofs Syndrome
Death in infancy, Prominent metopic ridge, Camptodactyly of finger, Micrognathia, Short neck, Sen... ORPHA:1466
Achondrogenesis Type 1B
Thickened nuchal skin fold, Polyhydramnios, Micrognathia, Short neck, Micromelia, Hydrops fetalis... ORPHA:93298
Achondrogenesis Type 1A
Thickened nuchal skin fold, Short palm, Polyhydramnios, Micrognathia, Short neck, Micromelia, Hyd... ORPHA:93299
Omphalocele Syndrome, Shprintzen-Goldberg Type
Hypoplasia of the pharynx, Anteroposteriorly shortened larynx, Laryngeal hypoplasia, Webbed neck ORPHA:3164
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing ente... OMIM:235510
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Vertebral artery hypoplasia, Abnormal odontoid process morphology, Block verteb... OMIM:613686
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Ge... OMIM:617719
Sialidosis Type 2
Splenomegaly, Kyphosis, Dyspnea, Hydrops fetalis, Pedal edema, Umbilical hernia, Ascites, Hearing... ORPHA:87876
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Ventricular septal defect, Short neck, Cleft upper lip, Sensorineural ... OMIM:214300
Intellectual Disability, Birk-Barel Type
Sacral dimple, Tented upper lip vermilion, Micrognathia, High, narrow palate, Limited elbow flexi... ORPHA:166108
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Smooth philtrum, Abnormality of the dentition, Carious teeth, Patent ductus arteriosus, Velophary... ORPHA:363444
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Hip contracture, Necrotizing enterocolitis, Death in infancy, Polyhydramnios, Short neck, Echogen... OMIM:616809
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Wildervanck Syndrome
Fused cervical vertebrae, Webbed neck OMIM:314600
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Low posterior hairli... OMIM:616549
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Microtia OMIM:612138
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Deep philtrum, Wid... OMIM:619717
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed skeletal maturation, Reduced bone mineral density, Platyspondyly, Delayed ossification of... OMIM:617974
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Micrognathia, Hydrops fetalis, Knee flexion contracture, Downturned corners of mouth,... OMIM:265000
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism ORPHA:1074
Acrofacial Dysostosis, Palagonia Type
Posteriorly rotated ears, Short neck, Micrognathia, High, narrow palate, Supernumerary tooth, Sma... ORPHA:1787
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... OMIM:271630
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Recurrent hand flapping, Posteriorly rotated ears, Low-set ears OMIM:618147
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Lateral Meningocele Syndrome
Bicuspid aortic valve, Dental crowding, Short neck, Micrognathia, High palate, Conductive hearing... OMIM:130720
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ... OMIM:615113
Atelosteogenesis, Type Ii
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Micromelia, Short neck, Increased inte... OMIM:256050
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Craniosynostosis, Abnormality of th... ORPHA:949
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Decreased fetal movement, Sacral dimple, Congenital hip dislocation, Abnormal pinn... OMIM:618291
Congenital Disorder Of Glycosylation, Type Ik
Death in infancy, Nonimmune hydrops fetalis, Micrognathia, Splenomegaly, Cardiomyopathy, Thin ver... OMIM:608540
Shprintzen Omphalocele Syndrome
Hypoplasia of the pharynx, Anteroposteriorly shortened larynx, Laryngeal hypoplasia, Webbed neck OMIM:182210
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Igg4-Related Aortitis
Low back pain, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta... ORPHA:449400
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Low-set, posteriorly rotated ears, Microretrognathia, Camptodactyly of finger, Short neck, Abnorm... ORPHA:2994
Pierpont Syndrome
Posteriorly rotated ears, Short neck, Cryptorchidism, Short toe, Large fleshy ears, Broad philtru... OMIM:602342
Congenital Muscular Dystrophy, Ullrich Type
Decreased fetal movement, Torticollis, Spinal rigidity, Short neck, Kyphosis, Micrognathia, Hip d... ORPHA:75840
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Halperin-Birk Syndrome
Optic atrophy, Semilobar holoprosencephaly, Perimembranous ventricular septal defect, High palate... OMIM:618651
Lymphatic Malformation 6
Edema, Micrognathia, Facial edema, Lymphedema, Polyhydramnios, Periorbital edema, Atrial septal d... OMIM:616843
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Patent ductus arteriosus, Perimembranous ventricular septal defect, Protein-losing en... OMIM:608104
Congenital Disorder Of Glycosylation, Type In
Sensorineural hearing impairment, Micrognathia, Respiratory insufficiency, Short neck OMIM:612015
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Overriding aorta, Carious teeth, Abnorm... ORPHA:1110
Vacterl With Hydrocephalus
Microtia, third degree, Micrognathia, Esophageal atresia, Cryptorchidism, Hemivertebrae, Tracheoe... ORPHA:3412
Zechi-Ceide Syndrome
Mandibular prognathia, Atrial septal defect, Cleft lip, Abnormal earlobe morphology, Cleft palate... ORPHA:217017
22Q11.2 Deletion Syndrome
Polyhydramnios, Short neck, Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thym... ORPHA:567
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae OMIM:122600
Microtia-Anotia
Anotia, Microtia OMIM:600674
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Adams-Oliver Syndrome 6
Splenomegaly, Truncus arteriosus, Esophageal varix, Ventricular septal defect OMIM:616589
Trisomy 1Q
Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Cryptorchi... ORPHA:261344
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Posteriorly rotated ears, Short neck, Micrognathia, Wide anterior fontan... OMIM:614541
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Thyroiditis, Lymphad... ORPHA:83471
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palat... OMIM:188400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding ear, Downtu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding ear, Downtu... ORPHA:352665
Brachyolmia Type 2
Platyspondyly OMIM:613678
Monosomy 9P
Congenital diaphragmatic hernia, Abnormality of the dentition, Narrow mouth, Cryptorchidism, Clef... ORPHA:261112
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Microtia, Scoliosis, Narrow mou... ORPHA:398156
Gaucher Disease, Type Ii
Death in infancy, Double aortic arch, Apnea, Trismus, Thrombocytopenia, Splenomegaly, Stridor, Co... OMIM:230900
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Rubinstein-Taybi Syndrome 2
Posteriorly rotated ears, Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental... OMIM:613684
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Death in infancy, Pancytopenia, Decreased fetal movement, Feta... ORPHA:85212
Distal Deletion 10Q
Smooth philtrum, Thin upper lip vermilion, Abnormal morphology of the vestibule of the inner ear,... ORPHA:96148
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Abnorm... ORPHA:1913
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetiti... OMIM:618718
Gombo Syndrome
Microphthalmia OMIM:233270
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Cleft palate, Microtia, St... OMIM:612290
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Reduced vital capacity, Short neck, Kyphosis, Cryptorchidism, Respiratory insufficiency, High pal... ORPHA:178148
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Central apnea, Camptodactyly of finger, Short neck, Cleft pala... ORPHA:1617
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis OMIM:300718
Microcephaly 6, Primary, Autosomal Recessive
Microtia OMIM:608393
Aarskog-Scott Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Short palm, Genu recurvatum, Campto... ORPHA:915
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle... OMIM:600561
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Mandibular prognathia, Posteriorly rotated ears, Short neck, Microcytic anemia, Deep philtrum, As... OMIM:619750
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Self-injurious behavior, Aggressive behavior ORPHA:382
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis ORPHA:1436
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Microtia, Intestinal lymphangiectasia, ... OMIM:616006
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Monosomy 18P
Kyphoscoliosis, Short neck, Micrognathia, Carious teeth, Lymphedema, Cleft palate, Low posterior ... ORPHA:1598
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Microdontia, Peg-s... OMIM:610706
Winchester Syndrome
Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteopor... OMIM:277950
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Microtia, Low-set ears OMIM:617564
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Camptodactyly, ... OMIM:618761
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Craniosynostosis, Micrognathia, Midgut malrotation, High, narr... ORPHA:2409
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... OMIM:601596
Sprengel Deformity
Torticollis, Cleft palate, Short neck ORPHA:3181
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Diaphanospondylodysostosis
Myelomeningocele, Abnormal vertebral segmentation and fusion, Absent or minimally ossified verteb... ORPHA:66637
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Abnormality of ... ORPHA:2759
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Legius Syndrome
Posteriorly rotated ears, Short neck, Micrognathia, High, narrow palate, Low posterior hairline, ... OMIM:611431
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Sacral dimple, Short neck, Micrognathia, Bilateral cryptorchidism, High... OMIM:613544
Pseudodiastrophic Dysplasia
Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis ORPHA:85174
Ring Chromosome 6 Syndrome
Short neck, Respiratory insufficiency, Low posterior hairline, Macrotia, Short distal phalanx of ... ORPHA:1448
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Distal 22Q11.2 Microduplication Syndrome
Smooth philtrum, Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Optic di... ORPHA:261337
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Coronary artery calcification, Kyphosis, Limited sh... OMIM:203500
Orofaciodigital Syndrome Xvii
Prominent metopic ridge, Median cleft lip, Short neck, Short middle phalanx of the 2nd finger, Hi... OMIM:617926
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... OMIM:608636
Fanconi Anemia, Complementation Group L
Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Anemia, Anotia, Microt... OMIM:614083
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis, Micrognathia, Microtia, High palate, Joint contracture of the 5th finger,... OMIM:248910
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:616622
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho... ORPHA:2332
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Death in infancy, Thin upper lip vermilion, Tented upper lip vermilion, Po... OMIM:618622
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Phenobarbital Embryopathy
Mandibular prognathia, Unilateral cleft lip, Low-set ears, Abnormal mitral valve morphology, Tetr... ORPHA:1919
Gm1 Gangliosidosis
Mandibular prognathia, Hydrops fetalis, Abnormal form of the vertebral bodies, Aspiration pneumon... ORPHA:354
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxil... OMIM:180849
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Bethlem Myopathy 2
Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis OMIM:616471
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Protrusio acetabuli, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly... ORPHA:2619
Hennekam Syndrome
Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Conductive hearing ... ORPHA:2136
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Prominent metopic ridge, Abnormality of the philtrum, Aplasia/... ORPHA:1597
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Atelis Syndrome 1
Glue ear, Ventricular septal defect, Thrombocytopenia, Leukopenia, Microtia, Atrial septal defect... OMIM:620184
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Cleft upper lip, Cupped ear, Cleft palate, Microtia, High palate, Low-... OMIM:609654
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Knee flexion contracture, Kyphosis, Thoracic scoliosis, Vascular ring OMIM:603387
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Rhizomelia, Short neck, Micrognathia, Kyphosis, Wide anterior fontanel, ... ORPHA:3098
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal OMIM:221320
Morquio Syndrome C
Platyspondyly OMIM:252300
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Brachydactyly, Type B1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of... OMIM:113000
Holoprosencephaly
Short neck, Abnormality of the spleen, Deep philtrum, Abnormal form of the vertebral bodies, Ence... ORPHA:2162
Platyspondylic Dysplasia, Torrance Type
Hypoplastic scapulae, Polyhydramnios, Micromelia, Abnormal carpal morphology, Hydrops fetalis, Cl... ORPHA:85166
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Holoprosencephaly 13, X-Linked
Median cleft lip, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cl... OMIM:301043
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Ectopic pos... ORPHA:508488
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplas... OMIM:616367
Pyle Disease
Delayed eruption of teeth, Persistence of primary teeth, Reduced bone mineral density, Genu valgu... OMIM:265900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Polyhydramnios, Atrial sep... OMIM:265380
Nuchal Bleb, Familial
Stillbirth, Cystic hygroma, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Macrotia, Stereotypical hand wringing ORPHA:397933
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Decreased fetal movement, Camptodactyly of finger, Cleft palate, Respirator... OMIM:614399
Xia-Gibbs Syndrome
Uplifted earlobe, Protruding ear, Low-set ears, Laryngomalacia, Small earlobe OMIM:615829
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Short neck, Micrognathia, Protruding ear, Round ... ORPHA:1147
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Sandhoff Disease
Kyphosis, Cherry red spot of the macula ORPHA:796
Zimmermann-Laband Syndrome
Short neck, Micrognathia, Splenomegaly, Sensorineural hearing impairment, Supernumerary tooth, Gi... ORPHA:3473
Yuan-Harel-Lupski Syndrome
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,... OMIM:616652
Combined Oxidative Phosphorylation Deficiency 47
Short palm, Posteriorly rotated ears, Short neck, Cryptorchidism, Sensorineural hearing impairmen... OMIM:618958
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Ab... ORPHA:3082
Distal Duplication 18Q
Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Abnormal dental morphology, Campto... ORPHA:1716
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Short neck, Micrognathia, Trismus, Whistling appearance, Elbow flexion contractur... OMIM:277720
Hadziselimovic Syndrome
Ventricular hypertrophy, Posteriorly rotated ears, Ventricular septal defect, Thick lower lip ver... OMIM:612946
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Orofaciodigital Syndrome Type 2
Apnea, Micrognathia, Central retinal vessel vascular tortuosity, Tachypnea, Protruding ear, High ... ORPHA:2751
Alg9-Cdg
Villous atrophy, Short neck, Micrognathia, Hydrops fetalis, Large fleshy ears, Right ventricular ... ORPHA:79328
Tetrasomy 15Q26
Microretrognathia, Kyphoscoliosis, Patent ductus arteriosus, Cupped ear, Hypoplastic aortic arch,... OMIM:614846
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis OMIM:309620
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type