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IDDHDF
MCID: INT330
MIFTS: 14
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Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies (IDDHDF)
Categories:
Genetic diseases
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MalaCards integrated aliases for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:Characteristics:OMIM:58
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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UniProtKB/Swiss-Prot
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76
Intellectual developmental disorder with hypertelorism and distinctive facies: An autosomal dominant neurodevelopmental disorder characterized by developmental delay and intellectual disability, language defects, and distinctive facial dysmorphism including high hairline, hypertelorism, thin eyebrows, dysmorphic ears, broad nasal bridge and tip, and narrow jaw.
MalaCards based summary : 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). Related phenotypes are hypertelorism and low-set ears
Description from OMIM:
618147
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Human phenotypes related to Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:33 (show all 12)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:618147 |
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Articles related to Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:
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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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UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:76
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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