Human genes for dopamine beta-hydroxylase deficiency
Dopamine beta-hydroxylase deficiency [DOID:0090145]
An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.
Synonyms: dopamine beta-hydroxylase deficiency, DOID:0090145, dopamine betahydroxylase deficiency, dopamine beta-hydroxylase deficiencies, congenital dopamine beta-hydroxylase deficiency ...