lissencephaly 1

Term ID

DOID:0112237

Synonyms

• LIS1
• PAFAH1B1-related lissencephaly

Definition

A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. (2)

References

• OMIM:607432
• ORDO:95232

Ontology

Human Disease   ( DOID:0112237 )