rs1555817157 in
ABHD12 gene and
Dysarthria
PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
rs1114167423 in
APTX gene and
Dysarthria
PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.
rs1553630279 in
CTNNB1 gene and
Dysarthria
PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
rs1057519389 in
EBF3 gene and
Dysarthria
PMID 28017372 2017 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
rs797045055 in
ND5;ND6;CYTB gene and
Dysarthria
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
rs121918358 in
SPG7 gene and
Dysarthria
PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
rs752298579 in
TANGO2 gene and
Dysarthria
PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
rs748787734 in
TUBB4A gene and
Dysarthria
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.