[DEL] NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

General Information (adopted from Orphanet):

Synonyms, Signs: GSD-I related syndrome GSD-Irs
Number of Symptoms 0
OrphanetNr:
OMIM Id: 612541
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 0.1 of 100 000
Inheritance: Autosomal recessive
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

Associated genes:

G6PC3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: