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X-linked intellectual disability, Abidi type

ORPHA:85273· ICD-10 Q87.8

Definition

X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.

Prevalence
<1 / 1 000 000
Inheritance
X-linked recessive
Age of onset
Childhood