microcephaly-thin corpus callosum-intellectual disability syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MRT40
related
intellectual developmental disorder, autosomal recessive 40
exact
intellectual disability, autosomal recessive 40
related
intellectual disability, autosomal recessive type 40
exact
mental retardation, autosomal recessive 40
related
mental retardation, autosomal recessive type 40
exact
microcephaly-thin corpus callosum-intellectual disability syndrome
exact
SPAC3A12.05c