Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)
| Code | 1172593006 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20210930 |
85995004Autosomal recessive hereditary disorder
disorder
248290002Developmental delay
disorder
363070008Developmental hereditary disorder
disorder
1144427006Diffuse atrophy of cerebrum
disorder
84757009Epilepsy
disorder
26360005Hereditary optic atrophy
disorder
106152006Second cranial nerve finding
finding
None (leaf concept).