Table 1.

Neurodevelopmental disorders associated with germline pathogenic variants in CHD proteins.

Gene	OMIM Gene Number	Inheritance	Proposed pathogenic mechanism	Disorder	Source
CHD1	602118	De novo (2/5 patients)	Dominant negative	Developmental delay, ASD, speech apraxia, facial dysmorphism	Pilarowski et al. (2017)
CHD2/15q26.1 microdeletion	615369	De novo	Haploinsufficiency	Myoclonic epilepsy (15q26.1del)	Veredice et al. (2009)
				Generalized epilepsy (15q26.1del)	Dhamija et al. (2011)
				Developmental delay, febrile seizures (15q26.1del)	Li et al. (2008)
				Developmental delay, epilepsy, autistic behavior, facial dysmorphisms (15q26.1del)	Capelli et al. (2012)
				DEE (CHD2)	Carvill et al. (2013)
				ID, absence of seizures (CHD2)	Verhoeven et al. (2016)
				ASD (CHD2)	O’Roak et al. (2014)
CHD4	603277	De novo	Unknown	ID, macrocephaly, hearing loss, ventriculomegaly, hypogonadism, palatal abnormalities, facial dysmorphism	Weiss et al. (2016)
CHD7	608892	De novo	Haplo insufficiency	CHARGE syndrome	Vissers et al. (2004)
CHD8	610528	De novo	Haplo insufficiency	ASD, macrocephaly, facial dysmorphisms, gastrointestinal problems	O’Roak et al. (2012) and Bernier et al. (2014)

ASD, Autism spectrum disorder; DEE, Developmental and Epileptic Encephalopathy; ID, intellectual disability.