Multiple congenital anomalies, hypotonia, seizures syndrome

Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)

active

Code	`785303004`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20190731

Synonyms

Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency
PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation

Parents (9)

85995004Autosomal recessive hereditary disorder disorder
238049009Carbohydrate-deficient glycoprotein syndrome disorder
363070008Developmental hereditary disorder disorder
75047002Disorder of skeletal muscle disorder
363212003Hereditary disorder of musculoskeletal system disorder
128190004Inherited metabolic disorder of nervous system disorder
65094009Multiple malformation syndrome with facial defects as major feature disorder
398152000Poor muscle tone finding
128613002Seizure disorder disorder

Children (0)

None (leaf concept).