intellectual developmental disorder with speech delay and axonal peripheral neuropathy
MONDO:0030849Mondo
Findings
No curated finding names intellectual developmental disorder with speech delay and axonal 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
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
10 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 speech and language developmentHPOHP:0000750
- 9 of 9 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 4 of 4 reported patients
- Distal amyotrophyHPOHP:0003693
- 7 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 9 reported patients
- Generalized hypotoniaHPOHP:0001290
- 4 of 9 reported patients
- KyphoscoliosisHPOHP:0002751
- 4 of 9 reported patients
- AtaxiaHPOHP:0001251
- 3 of 9 reported patients
- TremorHPOHP:0001337
- 2 of 8 reported patients
- Respiratory distressHPOHP:0002098
- 1 of 9 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.
- NEMFHGNC:10663
- Strong · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: intellectual developmental disorder with speech delay and axonal peripheral neuropathy
- Also called
- IDDSAPN