neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
MONDO:0032758Mondo
Findings
No curated finding names neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 1 of 1 reported patient
- Cerebral palsyHPOHP:0100021
- 1 of 1 reported patient
- Cerebral white matter atrophyHPOHP:0012762
- 1 of 1 reported patient
- ChoreaHPOHP:0002072
- 1 of 1 reported patient
- ChoreoathetosisHPOHP:0001266
- 1 of 1 reported patient
- DyskinesiaHPOHP:0100660
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
Show the remaining 11
- Hypochromic anemiaHPOHP:0001931
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Microcytic anemiaHPOHP:0001935
- 1 of 1 reported patient
- Midface retrusionHPOHP:0011800
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- Profound global developmental delayHPOHP:0012736
- 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.
- IREB2HGNC:6115
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
- Also called
- NDCAMA