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MASA syndrome

Disease definition

A X-linked, clinical subtype of L1 syndrome, characterized by mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

ORPHA:2466

Classification level: Subtype of disorder
  • Synonym(s):
    • Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: G11.4
  • OMIM: 303350
  • UMLS: C0795953
  • MeSH: C536029
  • GARD: 6986
  • MedDRA: -

Detailed information

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