Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities (NEDLIB)

External Ids:

OMIM® 57 618917 MeSH 44 D065886

MedGen 41 C5394502 CN283239 SNOMED-CT via HPO 68 12479006 191736004 204878001 221360009 224958001 228156007 247578003 248062006 249808002 25136009 263681008 271700006 278849000 282145008 29753000 397790002 397932003 41497008 418143002 52522001 54200006 91138005 95646004 more

UniProtKB/Swiss-Prot : ⁷³ Neurodevelopmental disorder with language impairment and behavioral abnormalities: A neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, and behavioral abnormalities, such as autism spectrum disorder, repetitive behaviors, and hyperactivity. Some patients develop seizures and manifest developmental regression.

MalaCards based summary : Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities, is also known as nedlib. An important gene associated with Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities is GRIA2 (Glutamate Ionotropic Receptor AMPA Type Subunit 2). Related phenotypes are intellectual disability and spasticity

OMIM® : ⁵⁷ Neurodevelopmental disorder with speech impairment and behavioral abnormalities (NEDLIB) is characterized by impaired intellectual development or developmental delay, behavioral abnormalities including autistic features, and language impairment. Other features include seizures and developmental regression (Salpietro et al., 2019). (618917) (Updated 05-Mar-2021)

Clinical features from OMIM®:

618917 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities.