severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0000761
syndrome caused by partial chromosomal deletion
is_a
MONDO:0044807
inherited dystonia
is_a
DDCH
related
deafness, dystonia, and cerebral hypomyelination
related
deafness, dystonia, and cerebral hypomyelination, X-linked recessive
exact
SPAC9E9.04