neurodegeneration with brain iron accumulation 7
MONDO:0054763Mondo
Findings
No curated finding names neurodegeneration with brain iron accumulation 7 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 · Progressive
HPO, annotations 2026-09-02
Features
23 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.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 2 reported patients
- Iron accumulation in brainHPOHP:0012675
- 2 of 2 reported patients
- Loss of ambulationHPOHP:0002505
- 2 of 2 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 2 reported patients
- Brisk reflexesHPOHP:0001348
- 1 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 2 reported patients
- DysarthriaHPOHP:0001260
- 1 of 2 reported patients
- DysmetriaHPOHP:0001310
- 1 of 2 reported patients
- DysphagiaHPOHP:0002015
- 1 of 2 reported patients
Show the remaining 11
- DystoniaHPOHP:0001332
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Increased circulating very long-chain fatty acid concentrationHPOHP:0033643
- 1 of 2 reported patients
- LeukodystrophyHPOHP:0002415
- 1 of 2 reported patients
- Lower limb spasticityHPOHP:0002061
- 1 of 2 reported patients
- Motor delayHPOHP:0001270
- 1 of 2 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.
- REPS1HGNC:15578
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025