neurodegeneration with brain iron accumulation 9
MONDO:0958012Mondo
Findings
No curated finding names neurodegeneration with brain iron accumulation 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
32 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
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Iron accumulation in brainHPOHP:0012675
- 4 of 4 reported patients
- NeurodegenerationHPOHP:0002180
- 5 of 5 reported patients
- Reduced cerebral white matter volumeHPOHP:0034295
- 5 of 5 reported patients
- Thin corpus callosumHPOHP:0033725
- 5 of 5 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 4 of 5 reported patients
- Delayed ability to sitHPOHP:0025336
- 4 of 5 reported patients
- Delayed ability to walkHPOHP:0031936
- 4 of 5 reported patients
- DysphagiaHPOHP:0002015
- 4 of 5 reported patients
Show the remaining 20
- MicrocephalyHPOHP:0000252
- 4 of 5 reported patients
- Mental deteriorationHPOHP:0001268
- 2 of 3 reported patients
- Cerebellar atrophyHPOHP:0001272
- 3 of 5 reported patients
- Decreased circulating ferritin concentrationHPOHP:0012343
- 3 of 5 reported patients
- Decreased transferrin saturationHPOHP:0012464
- 3 of 5 reported patients
- SeizureHPOHP:0001250
- 3 of 5 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.
- FTH1HGNC:3976
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Moderate · ClinGen · Autosomal dominant · 2025