severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Findings
No curated finding names severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0010334), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal pyramidal signHPOHP:0007256
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Cerebral hypomyelinationHPOHP:0006808
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- 6 of 6 reported patients
- Failure to thriveHPOHP:0001508
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BCAP31HGNC:16695
- Definitive · ClinGen · X-linked · 2023
- Definitive · G2P · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
- Also called
- deafness, dystonia, and cerebral hypomyelination, X-linked recessive