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.