Metadata | |
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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 |