intellectual developmental disorder with poor growth and with or without seizures or ataxia
MONDO:0032930Mondo
Findings
No curated finding names intellectual developmental disorder with poor growth and with or without seizures or ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- Elevated circulating LDL-C concentrationHPOHP:0003141
- 2 of 2 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 2 reported patients
- IncoordinationHPOHP:0002311
- 2 of 2 reported patients
- Mild global developmental delayHPOHP:0011342
- 3 of 3 reported patients
- Fair hairHPOHP:0002286
- 2 of 3 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 2 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 1 of 2 reported patients
- Developmental cataractHPOHP:0000519
- 1 of 3 reported patients · Congenital onset
- MicrocephalyHPOHP:0000252
- 1 of 3 reported patients
- Muscle weaknessHPOHP:0001324
- 1 of 3 reported patients
Show the remaining 2
- SeizureHPOHP:0001250
- 1 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
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.
- ABCA2HGNC:32
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of