|
MCID: MCR282
MIFTS: 13
|
Microcephaly and Chorioretinopathy 1
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Microcephaly and Chorioretinopathy 1:Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases External Ids:
|
|
Disease Ontology :
12
A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has material basis in homozygous or compound heterozygous mutation in the TUBGCP6 gene.
MalaCards based summary : Microcephaly and Chorioretinopathy 1 is related to exophthalmos and ectodermal dysplasia 6, hair/nail type. An important gene associated with Microcephaly and Chorioretinopathy 1 is TUBGCP6 (Tubulin Gamma Complex Associated Protein 6). Related phenotype is limbs/digits/tail. |
|
|
Genes related to Microcephaly and Chorioretinopathy 1 (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
|
|
|
Search
GEO
for disease gene expression data for Microcephaly and Chorioretinopathy 1.
|
Biological processes related to Microcephaly and Chorioretinopathy 1 according to GeneCards Suite gene sharing:
|
|