Condition: Hyperreflexia


rs121434578 in ABAT gene and Hyperreflexia PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs1555817157 in ABHD12 gene and Hyperreflexia PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs672601368 in KIF1A gene and Hyperreflexia PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs724159991 in TMEM186;ABAT gene and Hyperreflexia PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.