Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language (NDHSAL)

Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language, also known as ndhsal, is related to gastroesophageal reflux and hypotonia. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language is HECW2 (HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 2). Affiliated tissues include brain and eye, and related phenotypes are macrocephaly and intellectual disability