Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

MONDO:0010334

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).

Also known as: deafness, dystonia, and cerebral hypomyelination, X-linked recessive, DDCH, contiguous ABCD1/Dxs1375E deletion syndrome, deafness, dystonia, and cerebral hypomyelination

14 clinical trials for this condition and its sub-types, 0 tagged with Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome itself.

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