lissencephaly 8

Term ID

DOID:0112233

Synonyms

• LIS8

Definition

A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32. https://pubmed.ncbi.nlm.nih.gov/27773428/

References

• MIM:617255

Ontology

Human Disease   ( DOID:0112233 )