Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without Seizures (NEDHLSS)

Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without Seizures, is also known as nedhlss. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Language Delay, and Skeletal Defects with or Without Seizures is CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C). Related phenotypes are frontal bossing and dysphagia