Visualize Submit Comment
Metadata
ID DOID:0050764
Name Armfield syndrome
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
Xrefs

ICD10CM:Q87.8

OMIM:300261

ORDO:85276

Subsets

DO_rare_slim

Synonyms

Armfield X-linked mental retardation syndrome [EXACT]

mental retardation syndrome, X-linked, Armfield type [EXACT]

MRXSA [EXACT]

syndromic X-linked mental retardation Armfield type [EXACT]

X-linked intellectual disability, Armfield type [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

Add an item to the term tracker