neuromuscular disorder, congenital, with dysmorphic facies
MONDO:0958332Mondo
Findings
No curated finding names neuromuscular disorder, congenital, with dysmorphic facies 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
HPO, annotations 2026-09-02
Features
67 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.
- CamptodactylyHPOHP:0012385
- 5 of 5 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Exercise-induced myalgiaHPOHP:0003738
- 1 of 1 reported patient
- Gowers signHPOHP:0003391
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Limitation of knee mobilityHPOHP:0010501
- 1 of 1 reported patient
- Limited elbow movementHPOHP:0002996
- 5 of 5 reported patients
- Limited hip movementHPOHP:0008800
- 2 of 2 reported patients
- Mildly elevated creatine kinaseHPOHP:0008180
- 1 of 1 reported patient
- Pectus excavatumHPOHP:0000767
- 1 of 1 reported patient
- Positional foot deformityHPOHP:0005656
- 2 of 2 reported patients
Show the remaining 55
- PtosisHPOHP:0000508
- 2 of 2 reported patients
- Scapular wingingHPOHP:0003691
- 4 of 4 reported patients
- Spinal rigidityHPOHP:0003306
- 2 of 2 reported patients
- Wide nasal bridgeHPOHP:0000431
- 1 of 1 reported patient
- Elbow contractureHPOHP:0034391
- 8 of 9 reported patients
- ScoliosisHPOHP:0002650
- 7 of 8 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.
- FILIP1HGNC:21015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of