/severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Rare Disease

MONDO:0010334

Also Known As

deafness, dystonia, and cerebral hypomyelination, X-linked recessiveDDCHcontiguous ABCD1/Dxs1375E deletion syndromedeafness, dystonia, and cerebral hypomyelination

Definition

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).