neurodegeneration and seizures due to copper transport defect
MONDO:0957211Mondo
Findings
No curated finding names neurodegeneration and seizures due to copper transport defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Antenatal onset
HPO, annotations 2026-09-02
Features
29 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.
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- CardiomegalyHPOHP:0001640
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 2 of 2 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 2 of 2 reported patients
- Decreased CSF copper concentrationHPOHP:0034823
- 2 of 2 reported patients
- Delayed ability to roll overHPOHP:0032989
- 2 of 2 reported patients
- Enlarged cisterna magnaHPOHP:0002280
- 1 of 1 reported patient
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 2 reported patients · Infantile onset
- Glanular hypospadiasHPOHP:0000807
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 2 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
Show the remaining 17
- Increased CSF lactateHPOHP:0002490
- 2 of 2 reported patients
- LethargyHPOHP:0001254
- 2 of 2 reported patients
- Limb hypertoniaHPOHP:0002509
- 2 of 2 reported patients
- Persistent head lagHPOHP:0032988
- 2 of 2 reported patients
- PneumothoraxHPOHP:0002107
- 1 of 1 reported patient
- Pulmonary hypoplasiaHPOHP:0002089
- 1 of 1 reported patient
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.
- SLC31A1HGNC:11016
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of