Also known as: Thiamine metabolism dysfunction syndrome 2; Basal ganglia disease, biotin-responsive; Thiamine-responsive encephalopathy OMIM#607483 https://omim.org/entry/607483 1. The Disease: BTRE is an autosomal recessive metabolic disorder characterized by episodic...
GOT2 gene Also known as: Developmental and epileptic encephalopathy 82; DEE82; Epileptic encephalopathy, early infantile, 82; EIEE82; Mitochondrial deficiency of glutamate oxaloacetate transaminase OMIM#618721 https://omim.org/entry/618721 1. The Disease: Developmental...
Also known as: Neurodegeneration due to cerebral folate transport deficiency; NCFTD OMIM#613068 https://omim.org/entry/613068 1. The Disease: NCFTD is an autosomal recessive disorder resulting from brain-specific folate deficiency early in...
Also known as: Parkinsonism, infantile, autosomal recessive; Dystonia, dopa-responsive, autosomal recessive; Dopa-responsive dystonia, autosomal recessive; Tyrosine hydroxylase deficiency; DYT5b, DYT-TH OMIM#605407 https://omim.org/entry/605407 1. The Disease: A very rare neurometabolic...
Congenital myasthenic syndrome (CMS) – DOK7, RAPSN, GFPT1, ACHRE, COLQ, CHAT, AGRN, ALG2, ALG14, CHRNA1, CHRNB1, CHRND, GMPPB, COL13A1, DPAGT1, LRP4, MUSK, MYO9A, PREPL, PLEC, SLC25A1, SLC5A7, SNAP25, SYT2,...
ARSA gene Also known as: Arylsulfatase A deficiency, ARSA deficiency OMIM#250100 https://omim.org/entry/250100 1. The Disease: A rare lysosomal disease characterized by accumulation of sulfatides in the central and peripheral...
SPR gene Also known as: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency; Dopa-Responsive Hypersomnia, DYT-SPR, SPR deficiency – OMIM#612716 https://omim.org/entry/612716 1. The Disease: The phenotypic spectrum of sepiapterin reductase...
DBH gene Also known as: Norepinephrine deficiency; Noradrenaline deficiency; Orthostatic Hypotension 1 – Includes: – OMIM#223360 https://omim.org/entry/223360 1. The Disease: A very rare primary monoamine neurotransmitter synthesis disorder with...
SLC2A1 gene Also known as: De Vivo disease; Glucose transport defect, blood-brain barrier; Severe infantile-onset GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Paroxysmal exercise-induced dyskinesia with or without...
TPP1 gene Also known as: CLN2 disease; Ceroid lipofuscinosis neuronal 2, variable age at onset; Jansky-Bielschowsky disease – OMIM#204500 https://omim.org/entry/204500 1. The Disease: CLN2 disease (Neuronal Ceroid Lipofuscinosis Type...