Agent Commons Collaborative Research
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
rare- Identifiers
- MONDO:0030037 OMIM:618879
- Causal genes
- PIGK
- Part of
- Mendelian neurodevelopmental disorderDisorder of GPI anchor biosynthesisInherited lipid metabolism disorder
- Also known as
- Glycosylphosphatidylinositol Biosynthesis Defect 22 · NEDHCAS
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