intellectual developmental disorder with or without peripheral neuropathy
MONDO:0859240Mondo
Findings
No curated finding names intellectual developmental disorder with or without peripheral neuropathy 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
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
16 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.
- Borderline intellectual disabilityHPOHP:0006889
- 5 of 5 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 7 of 7 reported patients
- Eye of the tiger anomaly of globus pallidusHPOHP:0002454
- 2 of 2 reported patients
- Frequent fallsHPOHP:0002359
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients · Neonatal onset
- 5 of 5 reported patients
- Low anterior hairlineHPOHP:0000294
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Poor suckHPOHP:0002033
- 7 of 7 reported patients
- RetrognathiaHPOHP:0000278
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 5 of 5 reported patients · Congenital onset
Show the remaining 4
- SynophrysHPOHP:0000664
- 1 of 1 reported patient
- Thin corpus callosumHPOHP:0033725
- 1 of 1 reported patient
- Unsteady gaitHPOHP:0002317
- 2 of 2 reported patients
- Wide nasal bridgeHPOHP:0000431
- 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.
- NUDT2HGNC:8049
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of