lissencephaly 9 with complex brainstem malformation

Term ID

DOID:0112228

Synonyms

• LIS9
• posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome

Definition

A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3. (2)

References

• OMIM:618325
• ORDO:572013

Ontology

Human Disease   ( DOID:0112228 )