Orphanet: Severe motor and intellectual disabilities sensorineural deafness dystonia syndrome

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Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Disease definition

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).

ORPHA:369939

Classification level: Disorder

Synonym(s):
- Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
OMIM: 300475
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

ORPHA:369939

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)

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