syndromic X-linked intellectual disability Shrimpton type

Term ID

DOID:0060813

Synonyms

• mental retardation, X-linked, syndromic 9
• MRXS9

Definition

A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. (2)

References

• ICD10CM:Q87.8
• OMIM:300709
• ORDO:85324

Ontology

Human Disease   ( DOID:0060813 )