neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
NMIHBA
related
neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
exact
SPAC2F3.11