Armfield syndrome

Term ID

DOID:0050764

Synonyms

• Armfield X-linked mental retardation syndrome
• mental retardation syndrome, X-linked, Armfield type
• MRXSA
• syndromic X-linked mental retardation Armfield type
• X-linked intellectual disability, Armfield type

Definition

A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. https://www.ncbi.nlm.nih.gov/pubmed/10398235

References

• ICD10CM:Q87.8
• MIM:300261
• ORDO:85276

Ontology

Human Disease   ( DOID:0050764 )