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HIVEP2-related intellectual disability is a neurological disorder characterized by intellectual disability, developmental delay, and variable physical features. Early symptoms include poor muscle tone (hypotonia) and delays in the devlopment of motor skills like sitting, standing, and walking. Speech is also affected, with many children never talking or saying only a few words. Common physical features include crossed and widely spaced eyes, high forehead, broad nose root, and tapering fingers. Additional less common signs and symptoms may include a very small head (microcephaly), vision problems, constipation, feeding difficulties, seizures and behavioral problems such as autism, attention deficit, defiance, and anxiety.
HIVEP2-related intellectual disability is caused by mutations in the HIVEP2 gene. Inheritance is autosomal dominant. Treatment depends on the symptoms, and may include behavioral, physical and speech therapy.
Source: GARD Last updated on 05-01-20
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