hypermanganesemia with dystonia 2
Findings
No curated finding names hypermanganesemia with dystonia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.
Definition from the Mondo Disease Ontology (MONDO:0014864), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
48 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.
- DystoniaHPOHP:0001332
- 10 of 10 reported patients
- Frequent (30% to 79% of cases)
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- 10 of 10 reported patients
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Impaired masticationHPOHP:0005216
- 1 of 1 reported patient
- Inability to walkHPOHP:0002540
- 1 of 1 reported patient
- Generalized dystoniaHPOHP:0007325
- 6 of 9 reported patients
Show the remaining 36
- Cerebral atrophyHPOHP:0002059
- 3 of 10 reported patients
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- 1 of 10 reported patients
- Frequent (30% to 79% of cases)
- DyskinesiaHPOHP:0100660
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 2 of 10 reported patients
- Frequent (30% to 79% of cases)
- HypermanganesemiaHPOHP:0032097
- 3 of 10 reported patients
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
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.
- SLC39A14HGNC:20858
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: hypermanganesemia with dystonia 2
- Also called
- HMNDYT2hypermanganesemia with dystonia 2; HMNDYT2hypermanganesemia with dystonia caused by mutation in SLC39A14hypermanganesemia with dystonia type 2SLC39A14 hypermanganesemia with dystonia