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MCID: CLB031
MIFTS: 16
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Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Categories:
Endocrine diseases, Eye diseases, Fetal diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome:
Name: Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
56
71
Characteristics:Orphanet epidemiological data:58
colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; HPO:31
coloboma-obesity-hypogenitalism-mental retardation syndrome:
Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Metabolic diseases Anatomical: Eye diseases Endocrine diseases Neuronal diseases Mental diseases
ICD10:
33
Orphanet: 58
Rare eye diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis |
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MalaCards based summary :
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome, is also known as colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome. Affiliated tissues include eye and retina, and related phenotypes are cataract and cryptorchidism
More information from OMIM:
601794
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Human phenotypes related to Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome:58 31 (show all 15)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:601794 |
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MalaCards organs/tissues related to Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome:40
Eye,
Retina
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Articles related to Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome:
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Search
GEO
for disease gene expression data for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome.
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