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Metadata
ID DOID:0112235
Name lissencephaly 4
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.
https://pubmed.ncbi.nlm.nih.gov/21529751/, https://pubmed.ncbi.nlm.nih.gov/21529752/
Xrefs

MIM:614019
Synonyms

LIS4 [EXACT]

lissencephaly 4 with microcephaly [EXACT]
Parent Relationships

is_a microlissencephaly

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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