Term Name: lissencephaly 4
Synonyms: LIS4, lissencephaly 4 with microcephaly
Definition: A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11.
Ontology: Human Disease [DOID:0112235]   ( DOID:0112235 )

Relationships
is a type of: autosomal recessive disease microlissencephaly