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IDDHDF
MCID: INT330
MIFTS: 16
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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®:57 (Updated 05-Mar-2021)
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 HPO:31
intellectual developmental disorder with hypertelorism and distinctive facies:
Inheritance autosomal dominant inheritance Classifications: |
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UniProtKB/Swiss-Prot :
73
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 macrocephaly and global developmental delay
More information from OMIM:
618147
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Human phenotypes related to Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:31 (show all 15)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618147 (Updated 05-Mar-2021) |
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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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ClinVar genetic disease variations for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:6
UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies:73
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Search
GEO
for disease gene expression data for Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies.
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