peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
MONDO:0013711Mondo
Findings
No curated finding names peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Progressive
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.
- Distal amyotrophyHPOHP:0003693
- 15 of 15 reported patients
- Distal muscle weaknessHPOHP:0002460
- 15 of 15 reported patients
- Fiber type groupingHPOHP:0033685
- 2 of 2 reported patients
- Abnormal foot morphologyHPOHP:0001760
- 10 of 15 reported patients
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Frequent (30% to 79% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Fatty replacement of skeletal muscleHPOHP:0012548
- Frequent (30% to 79% of cases)
- Hoarse voiceHPOHP:0001609
- 8 of 15 reported patients
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- Increased variability in muscle fiber diameterHPOHP:0003557
- Frequent (30% to 79% of cases)
- Lower limb muscle weaknessHPOHP:0007340
- Frequent (30% to 79% of cases)
Reported absent (2)
- DysphagiaHPOHP:0002015
- Vocal cord paralysisHPOHP:0001605
Show the remaining 15
- Mildly elevated creatine kinaseHPOHP:0008180
- 4 of 11 reported patients
- Frequent (30% to 79% of cases)
- Mitochondrial swellingHPOHP:0030774
- Frequent (30% to 79% of cases)
- MyopathyHPOHP:0003198
- Frequent (30% to 79% of cases)
- Peripheral neuropathyHPOHP:0009830
- Frequent (30% to 79% of cases)
- Progressive distal muscle weaknessHPOHP:0009063
- Frequent (30% to 79% of cases)
- Structural foot deformityHPOHP:0010219
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.
- MYH14HGNC:23212
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
- Also called
- peripheral neuropathy-myopathy-hoarseness-deafness syndromePNMHH