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 |
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Microphthalmia |
OMIM:616335 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Waardenburg Syndrome, Type 2E |
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Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Halperin-Birk Syndrome |
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Optic atrophy, Semilobar holoprosencephaly, Perimembranous ventricular septal defect, High palate... |
OMIM:618651 |
Lymphatic Malformation 6 |
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Edema, Micrognathia, Facial edema, Lymphedema, Polyhydramnios, Periorbital edema, Atrial septal d... |
OMIM:616843 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
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Microtia |
OMIM:611863 |
Congenital Disorder Of Glycosylation, Type Ih |
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Short neck, Patent ductus arteriosus, Perimembranous ventricular septal defect, Protein-losing en... |
OMIM:608104 |
Congenital Disorder Of Glycosylation, Type In |
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Sensorineural hearing impairment, Micrognathia, Respiratory insufficiency, Short neck |
OMIM:612015 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
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Low-set, posteriorly rotated ears, Mandibular prognathia, Overriding aorta, Carious teeth, Abnorm... |
ORPHA:1110 |
Vacterl With Hydrocephalus |
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Microtia, third degree, Micrognathia, Esophageal atresia, Cryptorchidism, Hemivertebrae, Tracheoe... |
ORPHA:3412 |
Zechi-Ceide Syndrome |
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Mandibular prognathia, Atrial septal defect, Cleft lip, Abnormal earlobe morphology, Cleft palate... |
ORPHA:217017 |
22Q11.2 Deletion Syndrome |
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Polyhydramnios, Short neck, Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thym... |
ORPHA:567 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
Microtia-Anotia |
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Anotia, Microtia |
OMIM:600674 |
Transposition Of The Great Arteries, Dextro-Looped |
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Transposition of the great arteries |
OMIM:608808 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Adams-Oliver Syndrome 6 |
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Splenomegaly, Truncus arteriosus, Esophageal varix, Ventricular septal defect |
OMIM:616589 |
Trisomy 1Q |
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Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Cryptorchi... |
ORPHA:261344 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
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Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Chromosome 16Q22 Deletion Syndrome |
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Prominent metopic ridge, Posteriorly rotated ears, Short neck, Micrognathia, Wide anterior fontan... |
OMIM:614541 |
Atrial Septal Defect 4 |
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Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Thyroiditis, Lymphad... |
ORPHA:83471 |
Digeorge Syndrome |
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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 |
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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 |
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Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Protruding ear, Downtu... |
ORPHA:352665 |
Brachyolmia Type 2 |
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Platyspondyly |
OMIM:613678 |
Monosomy 9P |
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Congenital diaphragmatic hernia, Abnormality of the dentition, Narrow mouth, Cryptorchidism, Clef... |
ORPHA:261112 |
Oculoauriculofrontonasal Syndrome |
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Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Microtia, Scoliosis, Narrow mou... |
ORPHA:398156 |
Gaucher Disease, Type Ii |
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Death in infancy, Double aortic arch, Apnea, Trismus, Thrombocytopenia, Splenomegaly, Stridor, Co... |
OMIM:230900 |
Microphthalmia, Isolated 2 |
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Microphthalmia |
OMIM:610093 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Rubinstein-Taybi Syndrome 2 |
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Posteriorly rotated ears, Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental... |
OMIM:613684 |
Fetal Gaucher Disease |
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Low-set, posteriorly rotated ears, Death in infancy, Pancytopenia, Decreased fetal movement, Feta... |
ORPHA:85212 |
Distal Deletion 10Q |
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Smooth philtrum, Thin upper lip vermilion, Abnormal morphology of the vestibule of the inner ear,... |
ORPHA:96148 |
Fetal Trimethadione Syndrome |
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Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Abnorm... |
ORPHA:1913 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Hyperactivity, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal repetiti... |
OMIM:618718 |
Gombo Syndrome |
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Microphthalmia |
OMIM:233270 |
Microtia, Hearing Impairment, And Cleft Palate |
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Increased incisura length, Mixed hearing impairment, Overfolded helix, Cleft palate, Microtia, St... |
OMIM:612290 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
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Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
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Reduced vital capacity, Short neck, Kyphosis, Cryptorchidism, Respiratory insufficiency, High pal... |
ORPHA:178148 |
2Q24 Microdeletion Syndrome |
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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 |
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Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
Microcephaly 6, Primary, Autosomal Recessive |
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Microtia |
OMIM:608393 |
Aarskog-Scott Syndrome |
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Delayed eruption of teeth, Low-set, posteriorly rotated ears, Short palm, Genu recurvatum, Campto... |
ORPHA:915 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
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Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle... |
OMIM:600561 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
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Mandibular prognathia, Posteriorly rotated ears, Short neck, Microcytic anemia, Deep philtrum, As... |
OMIM:619750 |
Guanidinoacetate Methyltransferase Deficiency |
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Abnormal head movements, Hyperactivity, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
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Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Microtia, Intestinal lymphangiectasia, ... |
OMIM:616006 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Monosomy 18P |
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Kyphoscoliosis, Short neck, Micrognathia, Carious teeth, Lymphedema, Cleft palate, Low posterior ... |
ORPHA:1598 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
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Conical tooth, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Microdontia, Peg-s... |
OMIM:610706 |
Winchester Syndrome |
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Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized osteopor... |
OMIM:277950 |
Meier-Gorlin Syndrome 8 |
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Bilateral cryptorchidism, Microtia, Low-set ears |
OMIM:617564 |
Catifa Syndrome |
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Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Camptodactyly, ... |
OMIM:618761 |
Lowry-Maclean Syndrome |
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Delayed eruption of primary teeth, Craniosynostosis, Micrognathia, Midgut malrotation, High, narr... |
ORPHA:2409 |
Charcot-Marie-Tooth Disease, Type 4C |
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Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Sprengel Deformity |
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Torticollis, Cleft palate, Short neck |
ORPHA:3181 |
Distal Duplication 14Q |
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Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Multiple Synostoses Syndrome 2 |
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Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Diaphanospondylodysostosis |
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Myelomeningocele, Abnormal vertebral segmentation and fusion, Absent or minimally ossified verteb... |
ORPHA:66637 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Respiratory distress, Posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Abnormality of ... |
ORPHA:2759 |
Mesoaxial Hexadactyly And Cardiac Malformation |
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Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
Legius Syndrome |
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Posteriorly rotated ears, Short neck, Micrognathia, High, narrow palate, Low posterior hairline, ... |
OMIM:611431 |
Hypoplastic Left Heart Syndrome 2 |
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Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Chromosome 6Q11-Q14 Deletion Syndrome |
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Thin upper lip vermilion, Sacral dimple, Short neck, Micrognathia, Bilateral cryptorchidism, High... |
OMIM:613544 |
Pseudodiastrophic Dysplasia |
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Elbow dislocation, Platyspondyly, Phalangeal dislocation, Scoliosis |
ORPHA:85174 |
Ring Chromosome 6 Syndrome |
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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 |
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Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Distal 22Q11.2 Microduplication Syndrome |
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Smooth philtrum, Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Optic di... |
ORPHA:261337 |
Alkaptonuria |
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Arthropathy, Vertebral fusion, Low back pain, Coronary artery calcification, Kyphosis, Limited sh... |
OMIM:203500 |
Orofaciodigital Syndrome Xvii |
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Prominent metopic ridge, Median cleft lip, Short neck, Short middle phalanx of the 2nd finger, Hi... |
OMIM:617926 |
Chromosome 15Q11-Q13 Duplication Syndrome |
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Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... |
OMIM:608636 |
Fanconi Anemia, Complementation Group L |
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Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Anemia, Anotia, Microt... |
OMIM:614083 |
Oligodontia |
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Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
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Cutaneous mastocytosis, Micrognathia, Microtia, High palate, Joint contracture of the 5th finger,... |
OMIM:248910 |
Immunodeficiency 42 |
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Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:616622 |
Kbg Syndrome |
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Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho... |
ORPHA:2332 |
Autism, Susceptibility To, X-Linked 2 |
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Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Reticular Dysgenesis |
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Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
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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 |
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Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Phenobarbital Embryopathy |
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Mandibular prognathia, Unilateral cleft lip, Low-set ears, Abnormal mitral valve morphology, Tetr... |
ORPHA:1919 |
Gm1 Gangliosidosis |
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Mandibular prognathia, Hydrops fetalis, Abnormal form of the vertebral bodies, Aspiration pneumon... |
ORPHA:354 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Rubinstein-Taybi Syndrome 1 |
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Respiratory distress, Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxil... |
OMIM:180849 |
Xq21 Microdeletion Syndrome |
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Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Bethlem Myopathy 2 |
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Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis |
OMIM:616471 |
Brachydactylous Dwarfism, Mseleni Type |
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Osteopenia, Protrusio acetabuli, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly... |
ORPHA:2619 |
Hennekam Syndrome |
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Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, Short philtrum, Conductive hearing ... |
ORPHA:2136 |
Distal Deletion 17Q |
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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 |
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Glue ear, Ventricular septal defect, Thrombocytopenia, Leukopenia, Microtia, Atrial septal defect... |
OMIM:620184 |
Short Stature And Facioauriculothoracic Malformations |
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Ventricular septal defect, Cleft upper lip, Cupped ear, Cleft palate, Microtia, High palate, Low-... |
OMIM:609654 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
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Knee flexion contracture, Kyphosis, Thoracic scoliosis, Vascular ring |
OMIM:603387 |
Rhizomelic Syndrome, Urbach Type |
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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 |
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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 |
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Kyphosis, Camptodactyly |
OMIM:618453 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Brachydactyly, Type B1 |
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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 |
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Hypoplastic scapulae, Polyhydramnios, Micromelia, Abnormal carpal morphology, Hydrops fetalis, Cl... |
ORPHA:85166 |
Bruck Syndrome 1 |
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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 |
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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 |
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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 |
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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 |
|