X-linked intellectual disability, Armfield type

Orpha code: 85276OMIM code: 300261

Definition

X-linked intellectual disability, Armfield type is characterised 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.

Disease data
Classification

Malformation syndrome

Synonyms
Armfield syndrome
Zespół Armfielda
ORPHA code
85276
OMIM code
300261
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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