Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
2q37 microdeletion syndrome

Also known as: 2q37 deletion syndrome, 2q37 microdeletion syndrome, 2q37 monosomy, Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, BDMR, Del(2)(q37), brachydactyly intellectual disability syndrome, brachydactyly mental retardation syndrome, brachydactyly-intellectual disability syndrome, brachydactyly-mental retardation syndrome, chromosome 2q37 deletion syndrome, deletion 2q37, deletion 2q37-qter, monosomy 2q37-qter

3-hydroxy-3-methylglutaric aciduria

Also known as: 3-OH 3-Methyl glutaric aciduria, 3-hydroxy-3-methylglutaric aciduria, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, HL deficiency, HMG CoA lyase deficiency, HMG-CoA lyase deficiency, HMG-Coa lyase deficiency, HMGCLD, Hmgcl deficiency, Hydroxymethylglutaric aciduria, defect in leucine metabolism, deficiency of hydroxymethylglutaryl-CoA lyase, hydroxymethylglutaryl-CoA lyase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Also known as: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency, HMG CoA synthetase deficiency, HMG-CoA synthase deficiency, HMG-CoA synthase-2 deficiency, HMGCS2D, Hmgcs2 deficiency, mitochondrial HMG-Coa synthase deficiency

3-hydroxyisobutyryl-CoA hydrolase deficiency

Also known as: 3-hydroxyisobutryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency, Beta-hydroxyisobutyryl-CoA deacylase deficiency, HIBCH deficiency, HIBCHD, beta-hydroxyisobutyryl Coa deacylase deficiency, methacrylic acid toxicity, methacrylic aciduria, neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency, valine metabolic defect

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