fatal infantile hypertonic myofibrillar myopathy
MONDO:0013472Mondo
Findings
No curated finding names fatal infantile hypertonic myofibrillar myopathy 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
- Death in infancy · Infantile onset · Neonatal onset · Rapidly progressive
HPO, annotations 2026-09-02
Features
8 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 4 of 4 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 8 of 8 reported patients
- HypertoniaHPOHP:0001276
- 7 of 8 reported patients
- ApneaHPOHP:0002104
- 1 of 8 reported patients
- Muscular dystrophyHPOHP:0003560
- Respiratory failureHPOHP:0002878
- RigidityHPOHP:0002063
- Weak cryHPOHP:0001612
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.
- CRYABHGNC:2389
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · G2P · Autosomal recessive · 2026
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of