|  Help  |  About  |  Contact Us

DO Term : pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures [DOID:0081266] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A lissencephaly that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26.
  • synonyms:
  • 618737,
  • PAMDDFS,
  • OMIM:618737
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents