NM_001001683.4:c.325C>T

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
620327.1.1	Saudi Arabia; Yemen	2	Pathogenic	Neurodegeneration with Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities	Calì et al. 2022	Patient from "family B" in the publicati...
620327.1.2	Saudi Arabia; Yemen	2	Pathogenic	Neurodegeneration with Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities	Calì et al. 2022	Brother of 620327.1.1
620327.1.3	Saudi Arabia; Yemen	1			Calì et al. 2022	Father of 620327.1.1
620327.1.4	Saudi Arabia; Yemen	1			Calì et al. 2022	Mother of 620327.1.1
620327.2.1	Tunisia	2	Pathogenic	Neurodegeneration with Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities	Calì et al. 2022	Patient from "family D" in the publicati...
620327.2.2	Tunisia	1			Calì et al. 2022	Father of 620327.2.1
620327.2.3	Tunisia	1			Calì et al. 2022	Mother of 620327.2.1
620327.3.1	Tunisia	2	Pathogenic	Neurodegeneration with Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities	Calì et al. 2022	Patient from "family E" in the publicati...
620327.3.2	Tunisia	1			Calì et al. 2022	Father of 620327.3.1
620327.3.3	Tunisia	1			Calì et al. 2022	Mother of 620327.3.1

Epidemiology in the Arab World