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MCID: 9Q2001
MIFTS: 12
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9q22.3 Microdeletion |
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MalaCards integrated aliases for 9q22.3 Microdeletion:
Characteristics:GeneReviews:24
Penetrance
It is expected that 9q22.3 microdeletion is fully penetrant for phenotype, but with variable expressivity. no unaffected individuals with this microdeletion have been reported to date...
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Genetics Home Reference
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9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q22.3. This chromosomal change is associated with delayed development, intellectual disability, certain physical abnormalities, and the characteristic features of a genetic condition called Gorlin syndrome.
MalaCards based summary : 9q22.3 Microdeletion, also known as microdeletion 9q22.3 syndrome, is related to monosomy 9q22.3 and wilms tumor 5. An important gene associated with 9q22.3 Microdeletion is PTCH1 (Patched 1).
GeneReviews:
NBK61984
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Diseases related to 9q22.3 Microdeletion via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to 9q22.3 Microdeletion:
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Genetic tests related to 9q22.3 Microdeletion:
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Articles related to 9q22.3 Microdeletion:
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Genes related to 9q22.3 Microdeletion (0 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for 9q22.3 Microdeletion.
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