DEL
MCID: CHR506
MIFTS: 27
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Choroideremia, Deafness, and Mental Retardation (DEL)
Categories:
Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Choroideremia, Deafness, and Mental Retardation:
Name: Choroideremia, Deafness, and Mental Retardation
57
71
Characteristics:Orphanet epidemiological data:58
xq21 microdeletion syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
contiguous gene deletion syndrome onset of choroideremia in second to third decade leakage of fluid ('gusher') if the stapes is disturbed female carriers may have mild hearing impairment and/or mild signs of choroideremia
Inheritance:
x-linked recessive HPO:31
choroideremia, deafness, and mental retardation:
Inheritance x-linked inheritance x-linked recessive inheritance contiguous gene syndrome Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Anatomical: Eye diseases Ear diseases Endocrine diseases Neuronal diseases Mental diseases
ICD10:
33
Orphanet: 58
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MalaCards based summary :
Choroideremia, Deafness, and Mental Retardation, also known as chromosome xq21 deletion syndrome, is related to choroideremia and ayazi syndrome. An important gene associated with Choroideremia, Deafness, and Mental Retardation is DELXQ21 (Choroideremia, Deafness, And Mental Retardation). Affiliated tissues include eye, pituitary and bone, and related phenotypes are choroideremia and chorioretinal degeneration
More information from OMIM:
303110
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Diseases related to Choroideremia, Deafness, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Choroideremia, Deafness, and Mental Retardation:![]() |
Human phenotypes related to Choroideremia, Deafness, and Mental Retardation:58 31 (show all 49)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:303110 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Choroideremia, Deafness, and Mental Retardation:40
Eye,
Pituitary,
Bone,
Retina
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Articles related to Choroideremia, Deafness, and Mental Retardation:
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Search
GEO
for disease gene expression data for Choroideremia, Deafness, and Mental Retardation.
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