neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures

Rare Disease

MONDO:0030037

Also known as:

Glycosylphosphatidylinositol Biosynthesis Defect 22NEDHCASNEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES

Genes

Clinical Trials

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Newborn Screening

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Patient Groups

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