Neurodevelopmental Disorder with or Without Hypotonia, Seizures, and Cerebellar Atrophy (NEDHSCA)

Alias:

Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or Without Seizures

Glycosylphosphatidylinositol Biosynthesis Defect 13

Glycosylphosphatidylinositol Biosynthesis Defect 22

Nedhsca

Gpibd13

Nedhcas

Gpibd22

Intellectual Developmental Disorder, Autosomal Recessive 53, Formerly

Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome

Congenital Disorder of Glycosylation Due to Pigg Deficiency

Intellectual Developmental Disorder, Autosomal Recessive 53

Mental Retardation, Autosomal Recessive 53, Formerly

Mental Retardation, Autosomal Recessive, Type 53

Intellectual Disability, Autosomal Recessive 53

Mrt53, Formerly

Pigg-Cdg

Mrt53

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neurodevelopmental Disorder with or Without Hypotonia, Seizures, and Cerebellar Atrophy, also known as neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, is related to hypotonia and coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome. An important gene associated with Neurodevelopmental Disorder with or Without Hypotonia, Seizures, and Cerebellar Atrophy is PIGG (Phosphatidylinositol Glycan Anchor Biosynthesis Class G (EMM Blood Group)), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include brain, and related phenotypes are seizure and hypotonia

Related ID：

MALACARDS：NRD151

OMIM：616917

MESH：D008607