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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
  • ICD-11: 8B44.02
  • OMIM: 303350
  • UMLS: C0795953
  • MeSH: C536029
  • GARD: 6986
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2012) Italiano (2012) Suomi (2012, pdf)

Detailed information

General public

Disease review articles

Disability

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.