Morimoto-Ryu-Malicdan neuromuscular syndrome
MONDO:0975848Mondo
Findings
No curated finding names Morimoto-Ryu-Malicdan neuromuscular syndrome 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 · Neonatal onset · Childhood onset · Late young adult onset
HPO, annotations 2026-09-02
Features
102 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.
- AminoaciduriaHPOHP:0003355
- 1 of 1 reported patient
- Angulated muscle fibersHPOHP:0034045
- 1 of 1 reported patient
- Anti-thyroid peroxidase antibody positivityHPOHP:0025379
- 1 of 1 reported patient
- AspirationHPOHP:0002835
- 2 of 2 reported patients
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Bilateral coxa valgaHPOHP:0010665
- 1 of 1 reported patient
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 3 of 3 reported patients
- Bilateral single transverse palmar creasesHPOHP:0007598
- 1 of 1 reported patient
- Bowing of the legsHPOHP:0002979
- 1 of 1 reported patient
- CachexiaHPOHP:0004326
- 1 of 1 reported patient
- CardiomyopathyHPOHP:0001638
- 1 of 1 reported patient
- Cardiorespiratory arrestHPOHP:0006543
- 1 of 1 reported patient
Show the remaining 90
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Congestive heart failureHPOHP:0001635
- 2 of 2 reported patients
- CraniosynostosisHPOHP:0001363
- 1 of 1 reported patient
- CyanosisHPOHP:0000961
- 1 of 1 reported patient
- Decreased body weightHPOHP:0004325
- 4 of 4 reported patients
- Delayed ability to sitHPOHP:0025336
- 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.
- RFC4HGNC:9972
- Strong · PanelApp Australia · Autosomal recessive · 2025