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MCID: INT330
MIFTS: 9
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Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies
Categories:
Genetic diseases
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MalaCards integrated aliases for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:
Name: Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies
57
6
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
one patient with a confirmed mutation in the ccnk gene has been reported (last curated october 2018) some patients with similar features have a larger deletion involving several genes, including ccnk Classifications: |
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MalaCards based summary
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Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies, is also known as iddhdf. An important gene associated with Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies is CCNK (Cyclin K).
Description from OMIM:
618147
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:618147 |
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Genes related to Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:6
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Search
GEO
for disease gene expression data for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies.
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