Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome

Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder)

active

Code	`770755007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20190131

Synonyms

Congenital disorder of glycosylation due to PIGT (phosphatidylinositol glycan anchor biosynthesis class T) deficiency
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3

Parents (13)

13028004Abnormal nervous system function finding
85995004Autosomal recessive hereditary disorder disorder
238049009Carbohydrate-deficient glycoprotein syndrome disorder
8447006Congenital anomaly of skeletal bone disorder
363070008Developmental hereditary disorder disorder
1362108000Genetic intellectual disability disorder
363212003Hereditary disorder of musculoskeletal system disorder
128190004Inherited metabolic disorder of nervous system disorder
879976004Lesion of bone disorder
50279003Metabolic bone disease disorder
65094009Multiple malformation syndrome with facial defects as major feature disorder
128613002Seizure disorder disorder
105986008Skeletal dysplasia disorder

Children (0)

None (leaf concept).