Orphanet: X linked intellectual disability, Cabezas type

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X-linked intellectual disability, Cabezas type

Disease definition

An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability with significant speech impairment, and short stature in male patients. Variable additional clinical features have been associated, including macrocephaly, seizures, tremor, gait abnormalities, hypogonadism, truncal obesity, behavioral disturbances and unspecific facial dysmorphism.


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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