SPINAL MUSCULAR ATROPHY, RYUKYUAN TYPE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 271200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002380) Fasciculations 42 / 7739
2
 (HPO:0002751) Kyphoscoliosis 131 / 7739
3
 (HPO:0001761) Pes cavus 225 / 7739
4
 (HPO:0007126) Proximal amyotrophy 29 / 7739
5
 (HPO:0007269) Spinal muscular atrophy 24 / 7739
6
 (OMIM) Slight kyphoscoliosis 1 / 7739
7
 (HPO:0003593) Infantile onset 249 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: