Table 2.

Overview of identified new candidate variants in established disease genes.

Gene	MIM	Affected/unaffected	FamilyID	Phenotype	Variant	Zygosity	Inheritance
MCOLN1	252650	6/11	TR14	Cerebellar ataxia, affection of upper motor neuron, intellectual disability, epilepsy, pes cavus	NM_020533.3:c.230C>T: p.(Thr77Met)	hom	AR
MFN2	617087	2/3	TR44A	Peripheral motor neuropathy	NM_014874.3:c.1963A>G: p.(Lys655Glu)	hom	AR
SEPSECS	613811	2/3	MA01	Intellectual disability, pontocerebellar hypoplasia	NM_016955.4:c.181A>G: p.(Met61Val)	hom	AR
SYNJ1	617389	2/3	BE09	Epileptic encephalopathy, severe myoclonic epilepsy	NM_203446.2:c.1274G>T: p.(Cys425Phe)	hom	AR
TSEN54	277470	2/3	TR39	Intellectual disability, microcephalus, hypotonia	NM_207346.3:c.341C>T: p.(Pro114Leu)	hom	AR

Detailed annotations can be found in Table S1.

AR autosomal recessive, MIM mendelian inheritance in men.