Clinical and research tests for Methyl 2-hydroxybutanoate - Genetic Testing Registry (GTR)

Results: 1 to 8 of 8

Select all conditions on this page	Conditions	Synonyms
Select item 409616	Severe neonatal-onset encephalopathy with microcephaly	Encephalopathy, neonatal severe Encephalopathy, neonatal severe, due to MECP2 mutations
Select item 337496	Syndromic X-linked intellectual disability Lubs type	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE Lubs X-linked mental retardation syndrome MECP2 duplication syndrome MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS Mental retardation, X-linked, Lubs type XLMR syndrome, Lubs type
Select item 483046	Corticosterone methyloxidase type 2 deficiency	18-OXIDASE DEFICIENCY ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE ALDOSTERONE DEFICIENCY II CMO II DEFICIENCY Corticosterone Methyloxidase Type II Deficiency STEROID 18-OXIDASE DEFICIENCY
Select item 280689	Deficiency of acetyl-CoA acetyltransferase	2-methyl-3-hydroxybutyricacidemia 3-ketothiolase deficiency 3-oxothiolase deficiency Alpha-methylacetoaceticaciduria Beta ketothiolase deficiency Ketothiolase Deficiency Mitochondrial acetoacetyl-CoA Thiolase deficiency
Select item 1843150	HSD10 disease, infantile type
Select item 781653	HSD10 mitochondrial disease	17 beta-hydroxysteroid dehydrogenase type 10 deficiency 17-beta-hydroxysteroid dehydrogenase X deficiency 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2M3HBA 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency 3H2MBD deficiency Chorioathetosis with Mental Retardation and Abnormal Behavior HSD10 deficiency HSD10 disease HSD17B10 DEFICIENCY Hydroxyacyl-CoA dehydrogenase II deficiency
Select item 388039	Congenital bile acid synthesis defect 4	CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID Cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid in bile Trihydroxycoprostanic acid to cholic acid
Select item 1842355	HSD10 disease, neonatal type

Results: 1 to 8 of 8

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