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DO Term : lissencephaly 9 with complex brainstem malformation [DOID:0112228] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:618325,
  • LIS9,
  • posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,
  • 618325,
  • ORDO:572013
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