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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

MIM:618873

Synonyms

LIS10 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a lissencephaly

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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