lissencephaly 10

Term ID

DOID:0112229

Synonyms

• LIS10

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/

References

• MIM:618873

Ontology

Human Disease   ( DOID:0112229 )