Condition: Lower limb hypertonia
rs1553630279 in
CTNNB1 gene and
Lower limb hypertonia
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
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.