syndromic X-linked mental retardation Hough type

Term ID

DOID:0080242

Synonyms

Definition

A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22. https://pubmed.ncbi.nlm.nih.gov/28098945/

References

• MIM:301008

Ontology

Human Disease   ( DOID:0080242 )