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IDDILF
MCID: INT363
MIFTS: 13
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Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies (IDDILF)
Categories:
Genetic diseases
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Aliases & Classifications for Intellectual Developmental Disorder with Impaired Language and...
MalaCards integrated aliases for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:
Name: Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies
56
6
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy de novo mutation five unrelated patients have been reported (last curated november 2019) Classifications: |
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OMIM :
56
Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures. Some patients may have additional findings, including feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies (summary by Balak et al., 2019). (618653)
MalaCards based summary : Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies, is also known as iddilf. An important gene associated with Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies is DDX6 (DEAD-Box Helicase 6). |
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618653 |
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Articles related to Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:
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Genes related to Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:6
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Search
GEO
for disease gene expression data for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies.
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