complex cortical dysplasia with other brain malformations 13

Term ID

DOID:0070043

Synonyms

• autosomal dominant intellectual developmental disorder 13
• autosomal dominant mental retardation 13
• autosomal dominant non-syndromic intellectual disability 13
• mental retardation, autosomal dominant 13, with neuronal migration defects
• MRD13

Definition

A complex cortical dysplasia with other brain malformations characterized by global developmental delay with impaired intellectual development that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.31. https://www.ncbi.nlm.nih.gov/pubmed/21076407

References

• MIM:614563
• UMLS_CUI:C3281202

Ontology

Human Disease   ( DOID:0070043 )