| Metadata | |
|---|---|
| ID | DOID:0112229 |
| Name | lissencephaly 10 |
| Definition | A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31. https://pubmed.ncbi.nlm.nih.gov/32097630/ |
| Xrefs | |
| Synonyms |
LIS10 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a lissencephaly |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |