Spinal muscular atrophy, infantile, james type

Preferred Label : Spinal muscular atrophy, infantile, james type;

Symbol : SMAJI;

Type : Phenotype, molecular basis known;

Prefixed ID : #619042;

Details

Origin ID

619042;

UMLS CUI

C5436669;

Genes related to phenotype
- Glycyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed ability to walk [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Generalized hypotonia [HPO term]
- Hip contracture [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Infantile onset [HPO term]
- Lower limb muscle weakness [HPO term]
- Lumbar hyperlordosis [HPO term]
- Motor delay [HPO term]
- Muscle fibrillation [HPO term]
- Muscle weakness [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Type 1 muscle fiber predominance [HPO term]
- Weak voice [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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