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MCID: CHR506
MIFTS: 24
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Choroideremia, Deafness, and Mental Retardation
Categories:
Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Mental diseases
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MalaCards integrated aliases for Choroideremia, Deafness, and Mental Retardation:
Characteristics:Orphanet epidemiological data:59
choroideremia-deafness-obesity syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM:57
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:32
choroideremia, deafness, and mental retardation:
Inheritance contiguous gene syndrome x-linked inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Metabolic diseases Anatomical: Eye diseases Ear diseases Endocrine diseases Neuronal diseases Mental diseases
Orphanet: 59
Rare eye diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
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MalaCards based summary
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Choroideremia, Deafness, and Mental Retardation, also known as ayazi syndrome, is related to ayazi syndrome and choroideremia. An important gene associated with Choroideremia, Deafness, and Mental Retardation is DELXQ21 (Choroideremia, Deafness, And Mental Retardation). Affiliated tissues include bone, eye and retina, and related phenotypes are obesity and sensorineural hearing impairment
Description 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:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:303110Human phenotypes related to Choroideremia, Deafness, and Mental Retardation:59 32 (show all 16)
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MalaCards organs/tissues related to Choroideremia, Deafness, and Mental Retardation:41
Bone,
Eye,
Retina
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Articles related to Choroideremia, Deafness, and Mental Retardation:
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Genes related to Choroideremia, Deafness, and Mental Retardation (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Choroideremia, Deafness, and Mental Retardation.
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