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Armfield Syndrome (MONDO:0010284)

Open Trait in OLS

X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.

Overview

Category

syndromic disease

Ontology ID

Internal:11457

Synonyms

Armfield X-linked intellectual disability syndrome

Armfield X-linked mental retardation syndrome

Armfield syndrome

MRXSA

X-linked intellectual disability, Armfield type

intellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessive

intellectual disability syndrome, X-linked, Armfield type

mental retardation syndrome, X-linked, armfield type, X-linked recessive

syndromic X-linked intellectual disability Armfield type

intellectual disability, X-linked, syndromic, Armfield type

mental retardation, X-linked, syndromic, Armfield type

Mapped terms

DOID:0050764

GARD:0016742

MEDGEN:375800

MESH:C564551

OMIM:300261

Orphanet:85276

SCTID:719017003

UMLS:C1846057

Child terms

Unknown children.