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DOID:0112235 - lissencephaly 4
Disease Ontology 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.
Synonyms: LIS4, lissencephaly 4 with microcephaly,
Echinobase Genes :
MIM:614019 - lissencephaly 4; lis4 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)