Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

Table 1

Angelman-like Syndrome.

Chromatin-remodeling disorder		Synaptopathies		Unknown mechanism
Syndrome	Genes	Syndrome	Genes	Syndrome	Genes
Rett Syndrome/MECP2 duplication syndrome	MECP2	Phelan-McDermid Syndrome/22q13.3 deletion syndrome	SHANK3	Pitt-Hopkins Syndrome	TCF4
Mowat-Wilson Syndrome	ZEB2			Christianson Syndrome	SLC9A6
Kleefstra Syndrome/9q34.3 deletion syndrome	EHMT1			HERC2 deficiency	HERC2
MBD5 haploinsufficiency/2q23.1 deletion syndrome	MBD5			Adenylosuccinase deficiency	ADSL
Koolen-de Vries Syndrome/17q23.31 deletion syndrome	KANSL1			CDKL5 syndrome	CDKL5
Congenital variant of Rett Syndrome	FOXG1			MEF2C haploinsufficiency syndrome	MEF2C
Alpha-thalassemia/intellectual disability syndrome	ATRX			Ohtahara Syndrome	STXBP1
				Methylenetetrahydrofolate deficiency	MTHFR