Phenotypes for disease #00018 (HSD10MD (HSD10 Mi disease), OMIM:300438)

23 entries on 1 page. Showing entries 1 - 23.
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AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Enzyme/Activity     

Protein     

Age/Diagnosis     

Owner     

Individual ID     
0000000837 - Isolated (sporadic) - - 01y02m - ascertainment clinical presentation; developmental regression, dystonia, blindness, epilepsy - - 07y Division of Human Genetics, Innsbruck 00001683
0000000838 - Isolated (sporadic) - - - - ascertainment clinical presentation; psychomotor retardation - - 07y Division of Human Genetics, Innsbruck 00001684
0000000839 - Familial - - - - - - - - Division of Human Genetics, Innsbruck 00001685
0000000840 - Unknown - - - - ascertainment clinical presentation; severe hypotonia, no development, cardiomyopathy; phenotype onset neonatal; biochemical phenotype typical for disease 30% residual MHBD activity - - Division of Human Genetics, Innsbruck 00001686
0000000841 - Familial - - 01y07m - ascertainment clinical presentation; developemtnal delay, plagiocephaly, fontal bosssing, short nose, dysplastic ears. 5th finger and toe clinodactyly, moderate syndactyly of 2nd, 3rd 4th fingers - - 01y07m Division of Human Genetics, Innsbruck 00001687
0000000842 - Familial - - - - - - - - Division of Human Genetics, Innsbruck 00001688
0000000843 - Isolated (sporadic) - - - - - - - - Division of Human Genetics, Innsbruck 00001689
0000000844 - Unknown - - - - - - - - Division of Human Genetics, Innsbruck 00001690
0000000845 - Familial - - - - ascertainment clinical presentation; developmental regression, ataxia, myoclonus, nystagmus, optic atrophy, retinopathy; biochemical phenotype typical for disease MHBD activity 0.5 (Mean 1.4, SD 0.43) - 01y02m Division of Human Genetics, Innsbruck 00001691
0000000846 - Familial - - - - ascertainment clinical presentation; psychomotor retardation, speech delay, hearing loss; phenotype onset first months of life; biochemical phenotype typical for disease - - - Division of Human Genetics, Innsbruck 00001692
0000000847 - Familial - - - - ascertainment clinical presentation; neonatal presentation - - - Division of Human Genetics, Innsbruck 00001693
0000000848 - Familial - - - - ascertainment clinical presentation; neonatal presentation - - - Division of Human Genetics, Innsbruck 00001694
0000000849 - Isolated (sporadic) - - - - ascertainment clinical presentation - - - Division of Human Genetics, Innsbruck 00001695
0000000850 - Familial - - 00y03m - ascertainment clinical presentation - - - Division of Human Genetics, Innsbruck 00001696
0000000851 - Familial - - 00y06m - ascertainment clinical presentation; severe neurological impairment at 20 months - - - Division of Human Genetics, Innsbruck 00001697
0000000854 - Isolated (sporadic) - - - - ascertainment clinical presentation - - - Division of Human Genetics, Innsbruck 00001700
0000000855 - Familial - - - - ascertainment clinical presentation - - - Division of Human Genetics, Innsbruck 00001701
0000000856 - Unknown - - - - - - - - Division of Human Genetics, Innsbruck 00001702
0000000857 - Familial - - - - - - - - Division of Human Genetics, Innsbruck 00001703
0000000858 - Unknown - - 02y06m - ascertainment clinical presentation; developmental regression, Hyperkinetic involuntary movement disorder, EEG showed diffuse background slowing and multifocal spike or polyspike activity - - - Division of Human Genetics, Innsbruck 00001704
0000175601 - Familial, X-linked - HSD10D 00y06m progressive spastic quadriplegia (HP:0002478), motor delay (HP:0001270) elevation of 2-methyl-3-hydroxybutyrate (94; normal <18 mmol/mol creatinine) and tiglylglycine (74; normal <5 mmol/mol creatinine) - - 06y Sebastien Levesque 00235339
0000230171 - Familial, X-linked recessive - HSD10D 00y19m transient episode of dystonia/ataxia 19m-transient episode of dystonia/ataxia, MRI brain normal, no cardiac abnormalities, no ophthalmological abnormalities; over time dystonic episodes gradually diminished in frequency and duration - - - Johan den Dunnen 00303087
0000230173 - Familial, X-linked recessive - HSD10D - - suspected possible episodes of absence epilepsy, observed elevations liver transaminases, history of neonatal death sister and mother's new pregnancy; epilepsy not confirmed, cytomegalovirus infection explained transient hepatic abnormalities; 18m-asymptomatic, normal development - - - Johan den Dunnen 00303089
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