rs1135401778 in
BPTF gene and
Ataxia
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs1057519389 in
EBF3 gene and
Ataxia
PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
rs199476133 in
ND3;COX3;ND4L;ND4;ATP8;ATP6 gene and
Ataxia
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
rs121918358 in
SPG7 gene and
Ataxia
PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
rs752298579 in
TANGO2 gene and
Ataxia
PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.