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X-linked intellectual disability, Cabezas type

Disease definition

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.

ORPHA:85293

Classification level: Disorder
  • Synonym(s):
    • Cabezas syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 300354
  • UMLS: C1845861
  • MeSH: -
  • GARD: -
  • MedDRA: -
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