X-linked intellectual disability, Cabezas type

What is X-linked intellectual disability, Cabezas type?

An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet.

Other condition names

  • Cabezas syndrome

Inheritance type

X-linked recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
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