Pyridoxine-dependent developmental and epileptic encephalopathy

Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)

active

Code	`734434007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20180131

Synonyms

Antiquitin deficiency
PD-DEE - pyridoxine-dependent developmental and epileptic encephalopathy
Pyridoxine-dependent DEE (developmental and epileptic encephalopathy)
Pyridoxine-dependent epilepsy
Vitamin B6-dependent seizures

Parents (7)

85995004Autosomal recessive hereditary disorder disorder
1275631007Developmental and epileptic encephalopathy disorder
363070008Developmental hereditary disorder disorder
16909721000119103Disorder of gamma aminobutyric acid metabolism disorder
16279005Disorder of neurometabolic regulation disorder
363104002Hereditary disorder of endocrine system disorder
128190004Inherited metabolic disorder of nervous system disorder

Children (1)

717276003Folinic acid responsive developmental and epileptic encephalopathy disorder