eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | microcephaly |
| Comorbidity | C0013421|dystonia |
| Sentences | 1 |
| PubMedID- 22691284 | Neurological findings including severe psychomotor retardation, quadruspasticity and microcephaly accompanied with marked dystonia, excessive sweating in the first patient was compatible with the diagnosis of tyrosine hydroxylase (th) deficiency (type b) and subsequent molecular analysis revealed two novel heterozygous mutations c.636a>c and c.1124g>c in the th gene. |
Page: 1