Orphanet: X linked intellectual disability, Snyder type

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X-linked intellectual disability, Snyder type

Disease definition

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.


Classification level: Disorder
  • Synonym(s):
    • Snyder-Robinson syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Adolescent, Childhood, Infancy
  • ICD-10: Q87.8
  • OMIM: 309583
  • UMLS: C0796160
  • MeSH: -
  • GARD: 5615
  • MedDRA: -

Detailed information


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