SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 616084
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0003355) Aminoaciduria rare [HPO:skoehler] 65 / 7739
2
 (HPO:0000121) Nephrocalcinosis rare [HPO:skoehler] 57 / 7739
3
 (HPO:0000510) Rod-cone dystrophy rare [HPO:skoehler] 266 / 7739
4
 (HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
5
 (HPO:0001251) Ataxia rare [HPO:skoehler] 413 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
8
 (HPO:0001510) Growth delay rare [HPO:skoehler] 295 / 7739
9
 (HPO:0002299) Brittle hair rare [HPO:skoehler] 52 / 7739
10
 (HPO:0001638) Cardiomyopathy rare [HPO:skoehler] 192 / 7739
11
 (HPO:0004840) Hypochromic microcytic anemia 15 / 7739
12
 (HPO:0004313) Decreased antibody level in blood 47 / 7739
13
 (HPO:0001924) Sideroblastic anemia 12 / 7739
14
 (HPO:0003128) Lactic acidosis rare [HPO:skoehler] 116 / 7739
15
 (HPO:0001252) Muscular hypotonia 990 / 7739
16
 (HPO:0002059) Cerebral atrophy rare [HPO:skoehler] 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: