TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: Neuromuscular Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.010 Biomarker group BEFREE Patients with TH deficiency suffer from progressive infantile encephalopathy dominated by motor retardation similar to a primary neuromuscular disorder, fluctuating extrapyramidal, and ocular and vegetative symptoms. 12891655 2003