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MCID: MCR282
MIFTS: 18
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Microcephaly and Chorioretinopathy 1
Categories:
Eye diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Microcephaly and Chorioretinopathy 1:Classifications:External Ids:
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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 charcot-marie-tooth disease, x-linked recessive, 2 and pica disease. An important gene associated with Microcephaly and Chorioretinopathy 1 is TUBGCP6 (Tubulin Gamma Complex Associated Protein 6). Affiliated tissues include eye, heart and kidney, and related phenotypes are growth/size/body region and craniofacial |
MGI Mouse Phenotypes related to Microcephaly and Chorioretinopathy 1:45
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MalaCards organs/tissues related to Microcephaly and Chorioretinopathy 1:40
Eye,
Heart,
Kidney
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Genes related to Microcephaly and Chorioretinopathy 1 (0 elite genes):(show all 11) - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Microcephaly and Chorioretinopathy 1.
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Biological processes related to Microcephaly and Chorioretinopathy 1 according to GeneCards Suite gene sharing:
Molecular functions related to Microcephaly and Chorioretinopathy 1 according to GeneCards Suite gene sharing:
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