neurodevelopmental disorder with hearing loss and spasticity
MONDO:0859206Mondo
Findings
No curated finding names neurodevelopmental disorder with hearing loss and spasticity 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
HPO, annotations 2026-09-02
Features
27 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.
- Global developmental delayHPOHP:0001263
- 18 of 18 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 12 of 14 reported patients
- HypotoniaHPOHP:0001252
- 13 of 17 reported patients
- SeizureHPOHP:0001250
- 13 of 18 reported patients
- SpasticityHPOHP:0001257
- 17 of 25 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 15 of 25 reported patients
- DystoniaHPOHP:0001332
- 15 of 25 reported patients
- MicrocephalyHPOHP:0000252
- 13 of 25 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 11 of 25 reported patients
- Myoclonic seizureHPOHP:0032794
- 7 of 25 reported patients
- ScoliosisHPOHP:0002650
- 7 of 25 reported patients
- Focal-onset seizureHPOHP:0007359
- 4 of 25 reported patients
Show the remaining 15
- Infantile spasmsHPOHP:0012469
- 4 of 25 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 3 of 25 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 25 reported patients
- Spastic hemiparesisHPOHP:0011099
- 1 of 14 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 25 reported patients
- High palateHPOHP:0000218
- 1 of 25 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.
- AFG2BHGNC:28762
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2021
- Moderate · G2P · Autosomal recessive · 2025