Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities (NEDHIB)

External Ids:

OMIM 56 618603 MeSH 43 D065886

MedGen 41 CN262335

OMIM : ⁵⁶ Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Additional features may include feeding difficulties, dysmorphic features, and visual defects. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles. The severity of the disorder is highly variable; initial evidence suggests that the severity may depend on the type of mutation (summary by Haijes et al., 2019). (618603)

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities, is also known as nedhib. An important gene associated with Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities is POLR2A (RNA Polymerase II Subunit A). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : ⁷³ Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities: An autosomal dominant neurodevelopmental disorder characterized by profound infantile-onset hypotonia, developmental delay with poor speech, delayed walking, and impaired intellectual development. Additional variable features include feeding difficulties, dysmorphic features, and visual defects.

Clinical features from OMIM:

618603

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities.