Mackenzie's Mission_Reproductive Carrier Screening

Gene: NTNG2

Comment on list classification: Amber for MM due to rarity

Created: 7 May 2021, 2:42 a.m. | Last Modified: 7 May 2021, 2:42 a.m.

Panel Version: 0.83

Green List (high evidence)

Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome, such as poor communication, stereotypic or repetitive behaviours, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities.

More than 8 families reported.
Sources: Expert Review

Created: 14 Nov 2020, 3:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718

Publications

• 31668703
• 31692205