Visualize Submit Comment

Metadata
ID	DOID:0112233
Name	lissencephaly 8
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/
Xrefs	MIM:617255
Synonyms	LIS8 [EXACT]
Parent Relationships	is_a lissencephaly is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance