Details of Disease

General Information of Disease (ID: DISL0P18)

• Disease Name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
• Synonyms: DDCH; deafness, dystonia, and cerebral hypomyelination; contiguous ABCD1/Dxs1375E deletion syndrome; deafness, dystonia, and cerebral hypomyelination, X-linked recessive
• 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).
• Disease Hierarchy:
  DISEIJV9: Inherited dystonia
  DIS1DD8C: Syndrome caused by partial chromosomal deletion
  DISL0P18: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010334
  MESH ID: C564508
  UMLS CUI: C3806634
  OMIM ID: 300475
  MedGen ID: 812964
  Orphanet ID: 369939
  SNOMED CT ID: 773415005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BCAP31	OTKSACR4	Definitive	X-linked	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.