neurodevelopmental disorder with hypotonia, neuropathy, and deafness
MONDO:0060496Mondo
Findings
No curated finding names neurodevelopmental disorder with hypotonia, neuropathy, and deafness 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
38 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
- 5 of 5 reported patients
- Ankle contractureHPOHP:0034677
- 1 of 1 reported patient
- Delayed gross motor developmentHPOHP:0002194
- 5 of 5 reported patients
- Demyelinating motor neuropathyHPOHP:0007220
- 1 of 1 reported patient
- Distal muscle weaknessHPOHP:0002460
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 5 of 5 reported patients
- EEG abnormalityHPOHP:0002353
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 6 of 6 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 3 of 3 reported patients
- Generalized hypotoniaHPOHP:0001290
- 5 of 5 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Motor axonal neuropathyHPOHP:0007002
- 1 of 1 reported patient
Show the remaining 26
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Myopathic faciesHPOHP:0002058
- 6 of 6 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 5 of 5 reported patients · Neonatal onset
- Poor head controlHPOHP:0002421
- 6 of 6 reported patients
- Poor suckHPOHP:0002033
- 6 of 6 reported patients
- Recurrent infections due to aspirationHPOHP:0004891
- 5 of 5 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.
- SPTBN4HGNC:14896
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Illumina · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025