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MASA syndrome

Disease Export to PDF
Name:
MASA syndrome
Description:
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.
ORPHAcode:
2466
Synonyms:
Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
XREF(s):
Orphanet
MeSH
OMIM
ICD-10
Analyte(s):
L1CAM
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14