Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies (IDDEBF)

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OMIM® 57 619031

OMIM® : ⁵⁷ IDDEBF is a severe disorder characterized by impaired intellectual development, epilepsy, behavioral abnormalities, and coarse facies. Brain MRI findings may include delayed myelination in the deep parietal lobes (Kvarnung et al., 2018). (619031) (Updated 05-Mar-2021)

MalaCards based summary : Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies, is also known as iddebf. An important gene associated with Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies is ALG14 (ALG14 UDP-N-Acetylglucosaminyltransferase Subunit).

Clinical features from OMIM®:

619031 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies.