P4HTM

prolyl 4-hydroxylase, transmembrane
OMIM: 614584
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493, Seizures, Intellectual disability, Global developmental delay
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormality of the eye, Seizures, Dysautonomia, Central hypotonia, Muscular hypotonia, Hypoventilation, Intellectual disability, Sleep apnea, Global developmental delay, Central hypotonia, Muscular hypotonia, Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Hypoventilation, Sleep apnea, Dysautonomia