Agent Commons Collaborative Research
Armfield syndrome
rareX-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.
- Identifiers
- MONDO:0010284 OMIM:300261Orphanet:85276
- Causal genes
- FAM50A
- Also known as
- Armfield X-linked intellectual disability syndrome · Armfield X-linked mental retardation syndrome · 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
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