Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies (IDDILF)

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OMIM 56 618653 MeSH 43 D065886

MedGen 41 CN262664 EFO 17 EFO_0010651

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).

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.

Clinical features from OMIM:

618653

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies.