neurodegeneration with brain iron accumulation 8
MONDO:0054764Mondo
Findings
No curated finding names neurodegeneration with brain iron accumulation 8 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
- Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
13 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
- 1 of 1 reported patient · Childhood onset
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- DysmetriaHPOHP:0001310
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Iron accumulation in brainHPOHP:0012675
- 1 of 1 reported patient
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Sensory neuropathyHPOHP:0000763
- 1 of 1 reported patient
- TremorHPOHP:0001337
- 1 of 1 reported patient
- Unsteady gaitHPOHP:0002317
- 1 of 1 reported patient · Childhood onset
Show the remaining 1
- Increased circulating lactate concentrationHPOHP:0002151
- 0 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.
- CRATHGNC:2342
- Limited · Ambry Genetics · Autosomal recessive · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018