severe intellectual disability-progressive spastic diplegia syndrome
Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0100571
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
CTNNB1 syndrome
exact
CTNNB1-related intellectual disability
related
MRD19
exact
autosomal dominant intellectual disability 19
exact
intellectual disability, autosomal dominant 19
related
intellectual disability, autosomal dominant type 19
exact
mental retardation, autosomal dominant 19
related
mental retardation, autosomal dominant type 19
exact
neurodevelopmental disorder with spastic diplegia and visual defects
exact
severe intellectual disability-progressive spastic diplegia syndrome
exact