spinal muscular atrophy, infantile, James type
MONDO:0033621Mondo
Findings
No curated finding names spinal muscular atrophy, infantile, James type 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
- Infantile onset
HPO, annotations 2026-09-02
Features
17 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.
- AreflexiaHPOHP:0001284
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Distal amyotrophyHPOHP:0003693
- 1 of 1 reported patient
- Distal muscle weaknessHPOHP:0002460
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- Hip contractureHPOHP:0003273
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Lower limb muscle weaknessHPOHP:0007340
- 1 of 1 reported patient
- Lumbar hyperlordosisHPOHP:0002938
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- Muscle fibrillationHPOHP:0010546
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 2 of 2 reported patients
Show the remaining 5
- Respiratory insufficiencyHPOHP:0002093
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 1 of 1 reported patient
- Weak voiceHPOHP:0001621
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 2 of 3 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.
- GARS1HGNC:4162
- Moderate · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: spinal muscular atrophy, infantile, James type
- Also called
- SMAJI