Regression

Gene: SYT1

Red List (low evidence)

Baker-Gordon syndrome (BAGOS) is a neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioural abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures. More than 10 unrelated individuals reported.

Not a progressive neurodevelopmental disorder.

Created: 7 Jun 2021, 12:26 a.m. | Last Modified: 7 Jun 2021, 12:26 a.m.

Panel Version: 0.334

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Baker-Gordon syndrome, MIM# 618218; MONDO:0033864

Publications

• 30107533