Chromosome Xp21 Deletion Syndrome malady
Categories: Genetic diseases, Metabolic diseases, Fetal diseases, Rare diseases
Aliases & Descriptions for Chromosome Xp21 Deletion Syndrome:
Orphanet epidemiological data:53
xp21 microdeletion syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile,normal life expectancy
Global: Genetic diseases, Metabolic diseases, Fetal diseases, Rare diseases
ICD10: 30 29
OMIM:51 Infantile or complex glycerol kinase deficiency is a contiguous gene syndrome caused by microdeletion of GK (300474)... (300679) more...
MalaCards based summary: Chromosome Xp21 Deletion Syndrome, also known as complex glycerol kinase deficiency, is related to glycerol kinase deficiency and cryptococcal meningitis, and has symptoms including Array, Array and Array. An important gene associated with Chromosome Xp21 Deletion Syndrome is DELXP21 (Chromosome Xp21 Deletion Syndrome). Affiliated tissues include bone.
Clinical features from OMIM:300679
Human phenotypes related to Chromosome Xp21 Deletion Syndrome:53 (show all 32)
MalaCards organs/tissues related to Chromosome Xp21 Deletion Syndrome:35
Search GEO for disease gene expression data for Chromosome Xp21 Deletion Syndrome.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet