IDDILF
MCID: INT363
MIFTS: 22
|
Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies (IDDILF)
Categories:
Bone diseases, Genetic diseases
|
|
Aliases & Classifications for Intellectual Developmental Disorder with Impaired Language and...
MalaCards integrated aliases for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy de novo mutation five unrelated patients have been reported (last curated november 2019) HPO:31
intellectual developmental disorder with impaired language and dysmorphic facies:
Inheritance autosomal dominant inheritance Classifications: |
OMIM® :
57
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) (Updated 05-Mar-2021)
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). Affiliated tissues include heart and kidney, and related phenotypes are intellectual disability and frontal bossing UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder with impaired language and dysmorphic facies: An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies. |
|
Human phenotypes related to Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:31 (show all 47)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618653 (Updated 05-Mar-2021) |
|
MalaCards organs/tissues related to Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:40
Heart,
Kidney
|
Articles related to Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:
|
ClinVar genetic disease variations for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:6
UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies:73
|
Search
GEO
for disease gene expression data for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies.
|
|
|