MASA syndrome
MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
MONDO:0017140
L1 syndrome
is_a
Clasped thumb and mental retardation
related
Gareis-Mason syndrome
exact
MASA syndrome
exact
adducted thumb with mental retardation
related
intellectual disability aphasia shuffling Gait adducted thumbs (MASA)
related
intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
exact
masa syndrome, X-linked recessive
exact
mental retardation aphasia shuffling Gait adducted thumbs (MASA)
related
mental retardation, aphasia, shuffling Gait, and adducted thumbs
related
spastic paraplegia 1
related
spastic paraplegia, X-linked
exact
thumb congenital clasped with intellectual disability
related
thumb congenital clasped with mental retardation
related
thumb, congenital Clasped, with mental retardation
related