| Metadata | |
|---|---|
| ID | DOID:0070716 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070716 Copy |
| Name | progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia |
| Definition | A congenital nervous system abnormality characterized by severe to profound global developmental delay with inability to sit or walk independently, almost no cognitive development, poor visual fixation, and absent speech; progressive, severe microcephaly; and notable structural brain abnormalities apparent on brain imaging, including simplified gyral pattern, lissencephaly, partial or complete agenesis of the corpus callosum, enlarged ventricles, and cerebellar hypoplasia, that has_material_basis_in heterozygous mutation in the CRNKL1 gene on chromosome 20p11. https://pubmed.ncbi.nlm.nih.gov/40857589/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621436 |
| Subsets |
DO_rare_slim |
| Synonyms |
MGCH [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Antenatal onset has material basis in some autosomal dominant inheritance |