myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
MONDO:0033548Mondo
Findings
No curated finding names myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
41 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.
- Cleft palateHPOHP:0000175
- 3 of 3 reported patients · Antenatal onset
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- Dental malocclusionHPOHP:0000689
- 1 of 1 reported patient
- Distal arthrogryposisHPOHP:0005684
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 3 reported patients · Congenital onset
- 1 of 1 reported patient
- EsotropiaHPOHP:0000565
- 1 of 1 reported patient
- Failure to thrive in infancyHPOHP:0001531
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Mandibular prognathiaHPOHP:0000303
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
Show the remaining 29
- MyopathyHPOHP:0003198
- 2 of 2 reported patients
- Narrow chestHPOHP:0000774
- 1 of 1 reported patient
- Narrow jawHPOHP:0012801
- 1 of 1 reported patient
- Overlapping fingersHPOHP:0010557
- 1 of 3 reported patients · Antenatal onset
- 1 of 1 reported patient
- Pectus excavatumHPOHP:0000767
- 1 of 1 reported patient
- PolyhydramniosHPOHP:0001561
- 2 of 3 reported patients · Antenatal onset
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.
- MYOD1HGNC:7611
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018