MCID: CLB031
MIFTS: 16
|
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Categories:
Endocrine diseases, Eye diseases, Fetal diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
|
|
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
![]() ![]() ![]() |
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
|
|
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 |
|
MalaCards organs/tissues related to Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome:40
Eye,
Retina
|
Articles related to Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome:
|
|
Search
GEO
for disease gene expression data for Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome.
|
|
|