SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr:
OMIM Id: 271225
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005855) Multiple prenatal fractures 10 / 7739
2
(HPO:0007280) Acute infantile spinal muscular atrophy 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 male infants of first-cousin parents, Borochowitz et al. (1991) observed a form of acute infantile spinal muscular atrophy (SMA type I; Werdnig-Hoffmann disease; 253300) in association with congenital bone fractures. The authors suggested autosomal recessive inheritance, ...