Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Cleft palate, Micrognathia, Ventricular septal de... |
OMIM:231060 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Coronary Artery Dissection, Spontaneous |
|
Coronary artery dissection, Cystic medial necrosis |
OMIM:122455 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy |
|
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... |
OMIM:124490 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Retrognathia, Ex... |
ORPHA:107 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... |
ORPHA:3232 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Ossicular Malformations, Familial |
|
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Microtia, Micrognathia, Anotia, Conotruncal defect |
OMIM:243440 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Conductive Deafness-Malformed External Ear Syndrome |
|
High palate, Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing impa... |
ORPHA:3216 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Cleft palate... |
ORPHA:2306 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Branchiootic Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Micrognathia, Branchial fistula,... |
ORPHA:52429 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Cleft palate, Micro... |
OMIM:113650 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... |
OMIM:612474 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia |
OMIM:616428 |
Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex co... |
OMIM:611369 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... |
OMIM:606217 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Gingival overgrowth, Retrognathia, Microgn... |
ORPHA:1832 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Abnormality of the ear, Velopharyngeal insufficiency, Cleft palate, Retrognat... |
OMIM:192430 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Abnormal pinna morphology, Neonatal death, Truncus arteriosus |
OMIM:228940 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... |
OMIM:615436 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... |
ORPHA:98807 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma |
OMIM:611638 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... |
OMIM:609166 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Abnormality of cartilage of exte... |
ORPHA:3426 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Webbed neck, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Retrognathia, Hypogonadotr... |
OMIM:147770 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth, Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear |
OMIM:251800 |
Emanuel Syndrome |
|
High palate, Cleft palate, Congenital hip dislocation, Ventricular septal defect, Intrauterine gr... |
OMIM:609029 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Fetal Akinesia Deformation Sequence 4 |
|
High palate, Kyphosis, Cryptorchidism, Retrognathia, Micrognathia, Short neck, Polyhydramnios, Br... |
OMIM:618393 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Kyphosis, Cryptorchidism, Retrognathia, Micrognathia, Short neck, Scoliosis, Neonata... |
OMIM:611890 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Cleft palate, Micrognathia, Short neck, Low-set, posteriorly rotated ears, Abnormal vertebral mor... |
ORPHA:2015 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Warsaw Breakage Syndrome |
|
High palate, Wide mouth, Cupped ear, Tetralogy of Fallot, Optic disc coloboma, Ventricular septal... |
OMIM:613398 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Thymic Aplasia With Fetal Death |
|
Abnormality of the endocrine system, Stillbirth, Truncus arteriosus |
OMIM:274210 |
Emanuel Syndrome |
|
High palate, Cleft palate, Congenital hip dislocation, Abnormality of the ankles, Delayed eruptio... |
ORPHA:96170 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate |
OMIM:611867 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Acrofacial Dysostosis, Cincinnati Type |
|
Cleft palate, Microtia, Retrognathia, Micrognathia, Anotia, Patent ductus arteriosus, Hypoplasia ... |
OMIM:616462 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... |
OMIM:108760 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Limited neck range ... |
OMIM:184460 |
Mycophenolate Mofetil Embryopathy |
|
Microtia, Micrognathia, Tracheoesophageal fistula, Anotia, Coarctation of aorta, Oral cleft, Atre... |
ORPHA:268249 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... |
ORPHA:79113 |
Marcus-Gunn Syndrome |
|
Cleft palate, Cleft lip, Abnormal fifth cranial nerve morphology, Abnormal ear morphology, Abnorm... |
ORPHA:91412 |
Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... |
ORPHA:705 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Intrauterine growth retardation, Kyphoscoliosis, Elbow ankylosis, Micrognathia, Short neck, Conge... |
ORPHA:96183 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Sensorineural hearing impairment, Aplasia of the inner ear, Supernumerary tooth, Hypodontia, Micr... |
ORPHA:90024 |
Ciliary Dyskinesia, Primary, 37 |
|
Goiter, Hypothyroidism, Dextrocardia, Situs inversus totalis, Hearing impairment, Right aortic arch |
OMIM:617577 |
Lambert Syndrome |
|
Ventricular septal defect, Branchial anomaly |
ORPHA:1296 |
Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Cherry red spot of the macula |
ORPHA:351 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Vertebral segmentation defect, Anomalous origin of left coronary a... |
OMIM:618845 |
Parastremmatic Dwarfism |
|
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum |
OMIM:168400 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Platyspondyly, Stiff neck |
OMIM:616583 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, High, narrow palate, Cleft palate, Micrognathia, Short neck, Vent... |
ORPHA:2516 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Impaired social interactions, Aggressive behavior |
OMIM:618103 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Myelomeningocele, Hemivertebrae, Unilateral vertebral artery hypop... |
OMIM:613686 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Cystic hygro... |
OMIM:277300 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Ravine Syndrome |
|
Ataxia, Spasticity, Abnormal auditory evoked potentials |
ORPHA:99852 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Head tremor, Spastic dysarthria, Optic atrophy, Gait ataxia, Cochl... |
ORPHA:95433 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... |
OMIM:617478 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Long neck, Hypoplasia of the... |
OMIM:166780 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Low-set ears, Gingival overgrowth, Atrial septal defect, Joint con... |
OMIM:179613 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Velopharyngeal insufficiency, Cleft palate, Vertebral clefting, Thin vermilion ... |
OMIM:614701 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Splenomegaly, Otitis media, Aplasia of the thymus, Eosinophilia, Abnormally low T ce... |
OMIM:602450 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent otitis media |
OMIM:618254 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Narrow mouth, Cryptorchidism, Thin vermilion border, Micrognathia, Death in childhood, Short neck... |
OMIM:618766 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Proximal symphalangism of han... |
OMIM:185800 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Trisomy 4P |
|
Abnormal antihelix morphology, Abnormality of the dentition, Camptodactyly of finger, Short neck,... |
ORPHA:1738 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Pulmonic stenos... |
OMIM:618164 |
Monosomy 22 |
|
High palate, Joint swelling, Aplasia of the thymus, Retrognathia, Thin vermilion border, Hepatosp... |
ORPHA:96123 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Foam cells, Hypoplastic... |
OMIM:230650 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Tick-Borne Encephalitis |
|
Abnormality of the vestibular nerve, Abnormal autonomic nervous system physiology, Polyneuritis, ... |
ORPHA:297 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... |
OMIM:609223 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Intestinal malrotation, Long philtrum, Limited elbo... |
ORPHA:401935 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Conductive hearing impairment, Dental malocclusion, Joint contracture of the hand, Stenosis of th... |
OMIM:608257 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231183 |
Ear-Patella-Short Stature Syndrome |
|
Cleft palate, Craniosynostosis, Anotia, Breast aplasia, Hypoplasia of the maxilla, Microtia, thir... |
ORPHA:2554 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Abnormal pinna morphology, Micrognathia, Congenital hip dislocation, Scoliosis, Respira... |
OMIM:618291 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Anal atresia, Atrial septal defect, Decreased response to growth h... |
OMIM:220210 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnormal vertebral mor... |
ORPHA:163665 |
Trisomy 13 |
|
Abnormal antihelix morphology, Kyphosis, Sensorineural hearing impairment, Abnormal helix morphol... |
ORPHA:3378 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Vascular dilatation, Tongue pain, Abnormal palate morphology, Schwanno... |
ORPHA:221098 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Babinski sign, Jerky head movements, Spastic dysarthria, Spastic paraple... |
ORPHA:251282 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Platyspondyly, Short neck, Ventricular septal defect, Intrauterine growth retardati... |
OMIM:616897 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Lower limb spasticity... |
ORPHA:320401 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231169 |
Microtia |
|
Abnormal pinna morphology, Microtia, Anotia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... |
OMIM:604864 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... |
ORPHA:40 |
Phaver Syndrome |
|
Myelomeningocele, Conductive hearing impairment, Overfolded helix, Coarctation of aorta, Pulmonar... |
ORPHA:2876 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
Burning Mouth Syndrome |
|
Parageusia, Xerostomia, Smooth tongue, Abnormal fifth cranial nerve morphology, Abnormality of ta... |
ORPHA:353253 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Shyness, Aggressive behavior |
OMIM:618221 |
X-Linked Mandibulofacial Dysostosis |
|
High palate, Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, Abn... |
ORPHA:1131 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Ectopic anus, Wide mouth, Sensorineural hearing impairment, Conductive hearing impairment, Abnorm... |
ORPHA:2549 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, High palate, Protruding ear, Recurrent otitis media, Atrial septal... |
ORPHA:3304 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Narrow mouth, Miscarriage, Cryptorchidism, Cleft palate, Encephalocele, Short ribs, Micrognathia,... |
ORPHA:1865 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate |
OMIM:261800 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Arnold-Chiari Malformation Type I |
|
Cervical C2/C3 vertebral fusion, Cranial nerve compression, Abnormality of the eleventh cranial n... |
ORPHA:268882 |
Acrocardiofacial Syndrome |
|
Cleft upper lip, Anal atresia, Mitral stenosis, Joint dislocation, Cryptorchidism, Hyperthyroidis... |
ORPHA:2008 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Conductive hearing impairment, Everted lower lip vermilion, Pulmonic stenosis, Long ... |
OMIM:617877 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Low-set, ... |
OMIM:615502 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... |
OMIM:618300 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Torticollis, Thoracic scoliosis, Narrow palate, Overriding aorta, Micrognathia, Hypo... |
OMIM:617022 |
Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... |
ORPHA:199306 |
Primary Basilar Invagination |
|
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine |
ORPHA:2285 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Respiratory insufficiency, Short neck, Abnormality of the spleen, Low-set, posteriorly rotated ea... |
ORPHA:2487 |
Monosomy 5P |
|
High palate, Microretrognathia, Small hand, Short neck, Scoliosis, Low-set, posteriorly rotated e... |
ORPHA:281 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Abnormal oral cavity morphology, Craniosynostosis, Stenosis of the external auditory canal, Micro... |
ORPHA:1516 |
Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... |
OMIM:616749 |
Arthrogryposis, Distal, Type 1C |
|
High palate, Narrow mouth, Limited neck range of motion, Pursed lips, Cleft palate, Cryptorchidis... |
OMIM:619110 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... |
OMIM:619657 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Platyspondyly |
ORPHA:93304 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vertebral segmentation defect, Protruding ear, Tooth agenesis, Cleft palate, Abnormality of lower... |
ORPHA:1166 |
Bilateral Polymicrogyria |
|
Facial diplegia, Wide mouth, Sensorineural hearing impairment, Perisylvian polymicrogyria, 4-laye... |
ORPHA:268940 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... |
OMIM:616898 |
Stankiewicz-Isidor Syndrome |
|
Low-set ears, Cryptorchidism, Retrognathia, Micrognathia, Ventricular septal defect, Patent ductu... |
OMIM:617516 |
Episodic Ataxia Type 4 |
|
Frequent falls, Incoordination, Ataxia, Abnormal head movements |
ORPHA:79136 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Scoliosis, Transposition of the great arteries, Tetralogy of Fallot |
ORPHA:1727 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Atrial septal defect, Cryptorchidism, Scoliosis, Tetralogy of Fall... |
OMIM:618316 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger, Platyspondyly, Scoliosis |
ORPHA:3180 |
Coxoauricular Syndrome |
|
Hearing impairment, Microtia |
OMIM:122780 |
Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Cleft palate, Platyspondyly, Short neck, Rhizomelia, Widely patent cor... |
OMIM:228520 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Delayed skeletal maturation, Genu valgum, Platyspondyly, Genu varum |
OMIM:608361 |
Auriculocondylar Syndrome 3 |
|
Stenosis of the external auditory canal, Micrognathia, Retrognathia, Glossoptosis, Bilateral cond... |
OMIM:615706 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Ankle flexion contracture, Cryptorchidism, Bran... |
ORPHA:435938 |
Fryns Macrocephaly |
|
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... |
OMIM:600302 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:93302 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Cleft palate, Glossoptosis, Micrognathia, Camptodactyly of finger, Scoliosi... |
ORPHA:1388 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the pulmonary artery, Accelerated... |
ORPHA:1354 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Abnormal helix morphology, Cleft palate, Atrioventricular canal defect, Ventricular ... |
ORPHA:453499 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
High palate, Sensorineural hearing impairment, Abnormal pinna morphology, Conductive hearing impa... |
OMIM:618500 |
Achondrogenesis, Type Ib |
|
Malar flattening, Short ribs, Respiratory insufficiency, Hydrops fetalis, Micromelia, Absent or m... |
OMIM:600972 |
Renal, Genital, And Middle Ear Anomalies |
|
Abnormality of the middle ear ossicles, Hearing impairment |
OMIM:267400 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... |
ORPHA:168782 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Catel-Manzke Syndrome |
|
High palate, Cleft upper lip, Abnormal pinna morphology, Joint dislocation, Cryptorchidism, Cleft... |
OMIM:616145 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Tracheoes... |
ORPHA:861 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Elbow dislocation, Aplasia... |
ORPHA:3236 |
Mosaic Trisomy 9 |
|
High palate, Cleft palate, Hemivertebrae, Short neck, Micromelia, Ventricular septal defect, Intr... |
ORPHA:99776 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Sensorineural hearing impairment, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Vent... |
OMIM:617992 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Cleft palate, Microtia, Abnormality of the parathyroid gland, Atresia of the exte... |
ORPHA:3429 |
Noonan Syndrome |
|
Abnormal pulmonary valve morphology, Sensorineural hearing impairment, Webbed neck, High palate, ... |
ORPHA:648 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Cryptorchidism, Multilobulated spleen, Pulmonic stenosis, Single ventricle,... |
OMIM:601186 |
Pierpont Syndrome |
|
Uplifted earlobe, Short toe, Long upper lip, Malar flattening, Everted lower lip vermilion, Thin ... |
ORPHA:487825 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... |
OMIM:618469 |
Achondrogenesis |
|
Thickened nuchal skin fold, Micrognathia, Short neck, Long philtrum, Hydrops fetalis, Micromelia,... |
ORPHA:932 |
Alpha-Mannosidosis |
|
Dental malocclusion, Kyphosis, Gingival overgrowth, Narrow palate, Abnormal helix morphology, Mac... |
ORPHA:61 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Mosaic Trisomy 14 |
|
High palate, Wide mouth, Ectopic anus, Cleft palate, Microtia, Micrognathia, Camptodactyly of fin... |
ORPHA:1703 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Limitation of neck motion, Cervical vertebral bodies with decreased anteroposterior diameter, Fus... |
OMIM:606842 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Ventricular septal defect, Pneu... |
ORPHA:95430 |
Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Wide mouth, Narrow mouth, Hypoplasia of the pharynx, Cleft palate,... |
OMIM:154500 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... |
OMIM:615113 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Micrognathia, Short neck, Long philtrum, Hydrops fetalis, Micromelia,... |
ORPHA:93298 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Athetosis, Progressive extrapyramidal movement disorder, Abnormal head movements,... |
ORPHA:382 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Micrognathia, Short neck, Long philtrum, Hydrops fetalis, Micromelia,... |
ORPHA:93299 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... |
OMIM:125250 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Microtia, Atrioventricular canal defect, Cupped ear, Hypoplasia... |
ORPHA:40366 |
Auriculocondylar Syndrome |
|
Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft palate, Mandibular condyle... |
ORPHA:137888 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Platyspondyly |
OMIM:271620 |
Sandestig-Stefanova Syndrome |
|
High palate, Intrauterine growth retardation, Angulated antihelix, Muscular ventricular septal de... |
OMIM:618804 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Narrow mouth, Everted lower lip vermilion, Micrognathia, Long philtrum, Low-set, pos... |
ORPHA:261120 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Craniofacial Microsomia |
|
Wide mouth, Cleft palate, Hemivertebrae, Maxillozygomatic hypoplasia, Anotia, Underdeveloped trag... |
OMIM:164210 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Cleft palate, Branchial fistula, Pyloric stenosis, Ventricular septal defect, Ankyloglossia, Intr... |
ORPHA:261330 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia, Aplasia of the thymus |
ORPHA:3004 |
Distal Monosomy 10P |
|
Ectopic anus, Anal atresia, Webbed neck, Cryptorchidism, Cleft palate, Micrognathia, Polycystic o... |
ORPHA:1580 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Anomalous pulmonary venous return, Dextrotransposition of the great arteries, Abnormal coronary a... |
ORPHA:860 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
Apert Syndrome |
|
Vertebral segmentation defect, Sensorineural hearing impairment, Conductive hearing impairment, N... |
ORPHA:87 |
Diabetic Embryopathy |
|
Cryptorchidism, Microtia, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Ventricular sep... |
ORPHA:1926 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Lateral Meningocele Syndrome |
|
High palate, Short neck, Ventricular septal defect, Umbilical hernia, High, narrow palate, Microg... |
ORPHA:2789 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Protruding ear, Bicuspid aortic valve, Microtia, Overfolded helix, Left... |
OMIM:618619 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... |
ORPHA:3384 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Sensorineural hearing impairment, Double outlet right ventricle, Cleft palate, Hypogonadotropic h... |
ORPHA:2326 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Hydrocele testis, Atrial septal defect, Overriding aorta, Ventricular septal defect, Patent ductu... |
OMIM:601927 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... |
ORPHA:2345 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Scoliosis, Ventricular septal defect, Deep philtrum, Widely spaced tee... |
OMIM:619717 |
Mullegama-Klein-Martinez Syndrome |
|
Sensorineural hearing impairment, Abnormal cardiac septum morphology, Hypoplastic left heart, Cle... |
OMIM:301022 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Lumbar hyperlordosis, Increased intervertebral space, Cleft pa... |
OMIM:256050 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... |
ORPHA:2248 |
Cofs Syndrome |
|
Sensorineural hearing impairment, Everted lower lip vermilion, Micrognathia, Prominent metopic ri... |
ORPHA:1466 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
High palate, Low-set ears, Short neck |
OMIM:618951 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude |
OMIM:613641 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... |
ORPHA:216694 |
Spondylocamptodactyly |
|
Cervical platyspondyly, Scoliosis, Camptodactyly of finger, Camptodactyly |
OMIM:600000 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Cleft upper lip, Conductive hearing impairment, Abnormal pinna m... |
OMIM:214300 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Intrauterine growth retardation, Splenomegaly, Thin vermilion border, Micrognathia, Nonimmune hyd... |
OMIM:608540 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Hypoplasia of the pharynx, Webbed neck, Anteroposteriorly shortened larynx, Laryngeal hypoplasia |
ORPHA:3164 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism, Tooth agenesis, Cleft palate, Non-midline cleft lip |
ORPHA:1074 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Platyspondyly, Genu varum, Flat acetabular roof, Vertebral... |
OMIM:617719 |
Charge Syndrome |
|
Webbed neck, Aplasia of the semicircular canal, Cleft palate, Tracheoesophageal fistula, Ventricu... |
OMIM:214800 |
Sialidosis Type 2 |
|
Kyphosis, Splenomegaly, Hydrops fetalis, Pedal edema, Umbilical hernia, Dyspnea, Hearing impairme... |
ORPHA:87876 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Dens in dente, Kyphoscoliosis, Hypoplastic vertebral bodies, Webbed neck, ... |
OMIM:263540 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Triangular mouth, Cleft palate, Short neck, Umbilical hernia, Pterygium, Anterior cl... |
OMIM:265000 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Short neck, Rhizomelia, Intrauterine growth retardation, Vertebral seg... |
OMIM:611209 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Narrow mouth, Low-set, posteriorly rotated ears, Genu varum, Carious ... |
ORPHA:1110 |
Pierpont Syndrome |
|
Large fleshy ears, Short toe, Prominent median palatal raphe, Long upper lip, Everted lower lip v... |
OMIM:602342 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Kyphosis, Spinal rigidity, Micrognathia, Short neck, Scoliosis, Elbow flexion contra... |
ORPHA:75840 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Truncus arteriosus, Situs inversus totalis, Hypertrophi... |
OMIM:615415 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Zechi-Ceide Syndrome |
|
Conductive hearing impairment, Abnormal helix morphology, Atrial septal defect, Cleft palate, Mic... |
ORPHA:217017 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density, Platyspondyly, Genu varum, Ir... |
OMIM:617974 |
Lateral Meningocele Syndrome |
|
High palate, Short neck, Biconcave vertebral bodies, Umbilical hernia, Micrognathia, Scoliosis, L... |
OMIM:130720 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Webbed neck |
OMIM:314600 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... |
ORPHA:99050 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Microtia |
OMIM:612138 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma, Microphthalmia |
OMIM:614497 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, High palate, Webbed neck, Everted lower lip vermilion, Micrognat... |
OMIM:616549 |
Mucopolysaccharidosis, Type Vii |
|
Airway obstruction, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Genu valgum,... |
OMIM:253220 |
Trisomy 1Q |
|
Anal atresia, Narrow mouth, Microretrognathia, Cryptorchidism, Cleft palate, Camptodactyly of fin... |
ORPHA:261344 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Shprintzen Omphalocele Syndrome |
|
Hypoplasia of the pharynx, Webbed neck, Anteroposteriorly shortened larynx, Laryngeal hypoplasia |
OMIM:182210 |
Chromosome 9P Deletion Syndrome |
|
High palate, Narrow mouth, Narrow palate, Atrial septal defect, High, narrow palate, Thin vermili... |
OMIM:158170 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Cleft upper lip, Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation o... |
OMIM:600987 |
Acrofacial Dysostosis, Palagonia Type |
|
Supernumerary tooth, High, narrow palate, Malar flattening, Small hand, Micrognathia, Oligodontia... |
ORPHA:1787 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Ectopic anus, Short distal phalanx of finger, Microretrognathia, Amniotic constriction ring, Clef... |
ORPHA:2994 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Micrognathia, Scoliosis, Ven... |
ORPHA:398156 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Genu valgum, Platyspondyly |
OMIM:184095 |
Brachyolmia Type 1, Toledo Type |
|
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Precocious costochondra... |
OMIM:271630 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot, Unilateral cleft lip, Mandibular prognathi... |
ORPHA:1919 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
Van Der Woude Syndrome 2 |
|
Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
Coffin-Siris Syndrome 10 |
|
Laryngomalacia, Persistence of primary teeth, Ventricular septal defect, Low-set ears, Posteriorl... |
OMIM:618506 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
High palate, Large earlobe, Echogenic fetal bowel, Thickened ears, Shortening of all distal phala... |
OMIM:616809 |
Smith-Magenis Syndrome |
|
Scoliosis, Morphological abnormality of the middle ear, Abnormality of the outer ear, Hearing imp... |
OMIM:182290 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Aplasia of the inner ear, Microtia, first degree, Microdontia, Widely spaced teeth, Conical tooth... |
OMIM:610706 |
Monosomy 9P |
|
High palate, Abnormal antihelix morphology, Narrow mouth, Congenital diaphragmatic hernia, Cleft ... |
ORPHA:261112 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal common carotid artery morphology, Abnormal aortic arch morphol... |
ORPHA:449400 |
Brachydactylous Dwarfism, Mseleni Type |
|
Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality of the ank... |
ORPHA:2619 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Cleft palate, Craniosynostosis, Ventricular septal defect, Sagittal craniosynostosis, Open mouth,... |
ORPHA:453504 |
Temple Syndrome |
|
High palate, Intrauterine growth retardation, Cleft palate, Maturity-onset diabetes of the young,... |
OMIM:616222 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Cleft palate, Craniosynostosis, Ventricular septal defect, Sagittal craniosynostosis, Open mouth,... |
ORPHA:352665 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Cleft palate, Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing ... |
OMIM:612290 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:949 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... |
OMIM:600561 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Ventricular septal defect, Rectal prolapse, Pericardial lymphangiectas... |
OMIM:235510 |
2Q24 Microdeletion Syndrome |
|
Cleft palate, Short philtrum, Short neck, Camptodactyly of finger, Low-set, posteriorly rotated e... |
ORPHA:1617 |
Digeorge Syndrome |
|
High palate, Hydrocele testis, Cholelithiasis, Cleft palate, Ovarian cyst, Short philtrum, Thromb... |
OMIM:188400 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
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High palate, Kyphosis, Webbed neck, Cryptorchidism, Reduced vital capacity, Respiratory insuffici... |
ORPHA:178148 |
Microtia-Anotia |
|
Anotia, Microtia |
OMIM:600674 |
Intellectual Disability, Birk-Barel Type |
|
Protruding ear, High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion cont... |
ORPHA:166108 |
Lymphatic Malformation 6 |
|
Hydrocele testis, Abnormal pinna morphology, Facial edema, Genital edema, Nonimmune hydrops fetal... |
OMIM:616843 |
Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
Microcephaly 6, Primary, Autosomal Recessive |
|
Microtia |
OMIM:608393 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Genu recurvatum, Cleft palate, Everted lower lip vermilion, Abnormal vertebral s... |
ORPHA:915 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Tricuspid atresia, Cleft palate, Overfolded helix, Abnormality of the dentition, ... |
ORPHA:567 |
Congenital Disorder Of Glycosylation, Type In |
|
Sensorineural hearing impairment, Micrognathia, Respiratory insufficiency, Short neck |
OMIM:612015 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Long philtrum, Patent ductus arteriosus, Protein-losing enteropathy, Low-set ears, Pe... |
OMIM:608104 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Anal atresia, Dental malocclusion, Atrial septal defect, Velopharyngea... |
ORPHA:363444 |
Fetal Trimethadione Syndrome |
|
High palate, Abnormal helix morphology, Atrial septal defect, Overfolded helix, Micrognathia, Sco... |
ORPHA:1913 |
Auriculocondylar Syndrome 2 |
|
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Abnormal pinna mor... |
OMIM:614669 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... |
ORPHA:1435 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Malabsorption, Coombs-positive hemolytic anemia, Aplasia o... |
ORPHA:83471 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Esophageal varix, Truncus arteriosus, Splenomegaly |
OMIM:616589 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
Fetal Gaucher Disease |
|
High palate, Splenomegaly, Intracranial hemorrhage, Hydrops fetalis, Abnormality of the spleen, L... |
ORPHA:85212 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Microtia, Pulmonary lymphangiectasia, Pericardial lymphangiectasia, Intestinal lymphangiectasia, ... |
OMIM:616006 |
Vacterl With Hydrocephalus |
|
Anal atresia, Retrognathia, Micrognathia, Hemivertebrae, Anotia, Tracheoesophageal fistula, Abnor... |
ORPHA:3412 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Vertebral fusion |
OMIM:122600 |
Chromosome 16Q22 Deletion Syndrome |
|
High palate, Sensorineural hearing impairment, Wide anterior fontanel, Cryptorchidism, Micrognath... |
OMIM:614541 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Vertebral fusion |
OMIM:221950 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Vascular ring, Knee flexion contracture |
OMIM:603387 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Kyphosis, Hypoparathyroidism, Narrow palate, Atrial septal defect,... |
OMIM:618223 |
Monosomy 18P |
|
Abnormal antihelix morphology, Kyphoscoliosis, Protruding ear, Tooth malposition, Cleft palate, H... |
ORPHA:1598 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Thickened nuchal skin fold, ... |
OMIM:300209 |
Lowry-Maclean Syndrome |
|
Widely patent coronal suture, Intrauterine growth retardation, High, narrow palate, Cleft palate,... |
ORPHA:2409 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Winchester Syndrome |
|
Kyphosis, Generalized osteoporosis, Carpal osteolysis, Arthropathy, Osteolysis involving tarsal b... |
OMIM:277950 |
Kbg Syndrome |
|
Webbed neck, Cryptorchidism, Cleft palate, Oligodontia, Short neck, Scoliosis, Macrodontia, Long ... |
ORPHA:2332 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
High palate, Asthma, Hepatosplenomegaly, Short neck, Scoliosis, Hypothyroidism, Deep philtrum, Mi... |
OMIM:619750 |
Rubinstein-Taybi Syndrome 1 |
|
High palate, Respiratory distress, Cleft palate, Premature thelarche, Ventricular septal defect, ... |
OMIM:180849 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
Distal Monosomy 17Q |
|
Abnormal cardiac septum morphology, Narrow mouth, Microtia, Prominent metopic ridge, Aplasia/Hypo... |
ORPHA:1597 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Low-set ears, Aplasia/Hypoplasia of the tongue, Overfolded helix, Hemiverte... |
ORPHA:2759 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... |
OMIM:609813 |
Sprengel Deformity |
|
Torticollis, Short neck, Cleft palate |
ORPHA:3181 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Tarsal synostosis, Humeroradial ... |
OMIM:610017 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Scoliosis, Hyperlordosis |
OMIM:300718 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Kyphosis, Scoliosis, Hyperlordosis, Elbow flexion contracture, Arthrogryposis mu... |
OMIM:600175 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Alkaptonuria |
|
Kyphosis, Intervertebral disc degeneration, Limitation of knee mobility, Arthritis, Low back pain... |
OMIM:203500 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Cleft palate, Microtia, Micrognathia, Abnormality of the outer ear |
OMIM:248390 |
Halperin-Birk Syndrome |
|
High palate, Optic atrophy, Umbilical hernia, Semilobar holoprosencephaly, Thick vermilion border... |
OMIM:618651 |
Fanconi Anemia, Complementation Group L |
|
Anal atresia, Cleft palate, Microtia, Anemia, Micrognathia, Tracheoesophageal fistula, Anotia, Bo... |
OMIM:614083 |
Gm1 Gangliosidosis |
|
Platyspondyly, Ventricular septal defect, Mandibular prognathia, Abnormal heart morphology, Cherr... |
ORPHA:354 |
Gm1-Gangliosidosis, Type I |
|
Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Gingival overgrowth, Vacuola... |
OMIM:230500 |
Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Intrauterine growth retardation, Protruding ear, Thin vermilion border, Short philtrum, Short nec... |
OMIM:618622 |
Ring Chromosome 6 Syndrome |
|
Short distal phalanx of finger, Respiratory insufficiency, Short neck, Macrotia, Low posterior ha... |
ORPHA:1448 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Malar flattening, Cleft palate, Platyspondyly, Hydrops fetalis, G... |
ORPHA:85166 |
Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Low-set ears, Duodenal atresia, Butterfly vertebrae, Median cleft ... |
OMIM:301043 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
High palate, Anodontia, Kyphoscoliosis, Dental malocclusion, Narrow palate, Supernumerary tooth, ... |
OMIM:264475 |
Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
High palate, Conductive hearing impairment, Microtia, Micrognathia, Scoliosis, Joint contracture ... |
OMIM:248910 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Retrognathia, Prominent metopic ridge, Short neck, Short middle phalanx of t... |
OMIM:617926 |
Catifa Syndrome |
|
Tooth malposition, Cleft palate, Microtia, Long philtrum, Delayed eruption of teeth, Camptodactyl... |
OMIM:618761 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Pseudodiastrophic Dysplasia |
|
Phalangeal dislocation, Platyspondyly, Scoliosis, Elbow dislocation |
ORPHA:85174 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Nonimmune hydrops fetalis... |
OMIM:265380 |
Gordon Syndrome |
|
High palate, Cryptorchidism, Cleft palate, Camptodactyly of finger, Hearing impairment, Decreased... |
ORPHA:376 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Cleft palate, Microtia, Overfolded helix, Cupped ear, Ventricular s... |
OMIM:609654 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Short neck, Ventricular septal defect, Median cleft lip and palate... |
ORPHA:2162 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Tongue fasciculations, Abnormal cranial ... |
OMIM:601596 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Low-set ears, Temporomandibular joint ankylosis, Episodic tachypnea, High, narrow pa... |
ORPHA:2872 |
Cleft Velum |
|
Conductive hearing impairment, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Recurrent... |
ORPHA:99772 |
Mmep Syndrome |
|
Ventricular septal defect, Cryptorchidism, Median cleft lip, Oral cleft |
ORPHA:3434 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, Abnormal antihelix morphology, Low-set ears, Protruding ear, Abnormal h... |
ORPHA:261337 |
Distal Monosomy 10Q |
|
Facial diplegia, High palate, Protruding ear, Cochlear malformation, Atrial septal defect, Congen... |
ORPHA:96148 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Camptodactyly |
OMIM:618453 |
Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
Pyle Disease |
|
Reduced bone mineral density, Platyspondyly, Scoliosis, Delayed eruption of teeth, Limited elbow ... |
OMIM:265900 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... |
OMIM:113000 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:615524 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media |
OMIM:221320 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal ... |
ORPHA:251076 |
Hennekam Syndrome |
|
Arteriovenous malformation, Lymphangioma, Craniosynostosis, Short philtrum, Delayed eruption of t... |
ORPHA:2136 |
Legius Syndrome |
|
High palate, High, narrow palate, Micrognathia, Short neck, Low-set, posteriorly rotated ears, Lo... |
OMIM:611431 |
Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Protruding ear, Bicuspid aortic valve, Cleft palate, Microtia, Ste... |
OMIM:616367 |
Alg9-Cdg |
|
Wide mouth, Short neck, Ventricular septal defect, Rhizomelia, Abnormal heart morphology, Microgn... |
ORPHA:79328 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Huntington Disease-Like 3 |
|
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal sign, Chorea, Spa... |
ORPHA:157946 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Cryptorchidism, Low-set, posteriorly rotated ears, Umbilical hernia |
ORPHA:1918 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Tremor, Spasticity, Low-set ears |
OMIM:618718 |
Zimmermann-Laband Syndrome |
|
High palate, Wide mouth, Sensorineural hearing impairment, Large fleshy ears, Supernumerary tooth... |
ORPHA:3473 |
Nuchal Bleb, Familial |
|
Cystic hygroma, Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Rhizomelic Syndrome, Urbach Type |
|
High palate, Kyphosis, Abnormality of the tongue, Wide anterior fontanel, Short distal phalanx of... |
ORPHA:3098 |
Sheldon-Hall Syndrome |
|
Vertebral segmentation defect, High palate, Protruding ear, Micrognathia, Short neck, Scoliosis, ... |
ORPHA:1147 |
Paternal Uniparental Disomy Of Chromosome X |
|
Short neck, Low-set, posteriorly rotated ears, Cubitus valgus, Decreased testicular size, Short m... |
ORPHA:261524 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coronary artery atheroscler... |
OMIM:132900 |
Distal Trisomy 18Q |
|
High palate, Thickened nuchal skin fold, Micrognathia, Progressive intervertebral space narrowing... |
ORPHA:1716 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Hadziselimovic Syndrome |
|
High palate, Anal atresia, U-Shaped upper lip vermilion, Atrial septal defect, Tetralogy of Fallo... |
OMIM:612946 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Anterior radial head dislocation, Limited pronation/supination of forearm, H... |
OMIM:610967 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Conductive hearing impairment, Aortic valve stenosis, High, narrow palate, Cleft palate, Retrogna... |
ORPHA:2780 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Type II diabetes mellitus, Membranous subvalvular aortic stenosis, Micrognathia, Respir... |
ORPHA:3191 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Short neck, Abnormal antitragus mor... |
ORPHA:3082 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
Craniosynostosis And Dental Anomalies |
|
Stapes ankylosis, Conductive hearing impairment, Dental malocclusion, Supernumerary tooth, Papill... |
OMIM:614188 |
Meier-Gorlin Syndrome 8 |
|
Narrow mouth, Microtia, Thick vermilion border, Low-set ears, Bilateral cryptorchidism |
OMIM:617564 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
High palate, Respiratory distress, Cleft palate, Camptodactyly of finger, Respiratory insufficien... |
OMIM:614399 |
Sandhoff Disease |
|
Kyphosis, Cherry red spot of the macula |
ORPHA:796 |
Bruck Syndrome 1 |
|
Kyphosis, Hip contracture, Platyspondyly, Scoliosis, Osteoporosis, Protrusio acetabuli, Joint lax... |
OMIM:259450 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Short neck, Myelomeningocele, Absent or minimally oss... |
ORPHA:66637 |
8Q22.1 Microdeletion Syndrome |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Cryptorchidism, Craniosynostosis, Abnor... |
ORPHA:178303 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Irregular vertebral endplates, Widely-spaced incisors, Oligodontia, Platyspondyly, Short femoral ... |
OMIM:601668 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Scoliosis, Genu varum |
OMIM:618728 |
Bethlem Myopathy 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Hip dislocation, Distal joint laxity |
OMIM:616471 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy |
OMIM:300425 |
Autism |
|
Motor stereotypy |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:608636 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Jerky head movements, Simultan... |
ORPHA:157941 |
Whistling Face Syndrome, Recessive Form |
|
High palate, Kyphoscoliosis, Narrow mouth, Malar flattening, Micrognathia, Short neck, Long philt... |
OMIM:277720 |
Kniest-Like Dysplasia, Lethal |
|
Narrow mouth, Hypoplastic vertebral bodies, Abnormal pinna morphology, Wide anterior fontanel, Cl... |
OMIM:245190 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Asthma, Sinusitis, Lymphopenia, Aplasia of the thymus, Splenomegaly, Severe B lymphocytopenia, Pl... |
OMIM:102700 |
Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Webbed neck, Short neck, Limited elbow extension and ... |
OMIM:244600 |
Combined Oxidative Phosphorylation Deficiency 47 |
|