Neurodevelopmental Disorder with Dysmorphic Features, Spasticity, and Brain Abnormalities (NEDDSBA)

Alias:

Glycosylphosphatidylinositol Biosynthesis Defect 9

Mental Retardation, Autosomal Recessive 42

Neddsba

Gpibd9

Mrt42

Mental Retardation, Autosomal Recessive, Type 42

Intellectual Disability, Autosomal Recessive 42

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neurodevelopmental Disorder with Dysmorphic Features, Spasticity, and Brain Abnormalities, is also known as glycosylphosphatidylinositol biosynthesis defect 9. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Features, Spasticity, and Brain Abnormalities is PGAP1 (Post-GPI Attachment To Proteins Inositol Deacylase 1). Affiliated tissues include brain and skeletal muscle, and related phenotypes are spasticity and hyperreflexia

Related ID：

MALACARDS：NRD124

OMIM：615802

MESH：D008607