Disease - Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis
Definition
An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism.
Acronym
NEDBSS
Synonyms
Glycosylphosphatidylinositol biosynthesis defect 21
GPIBD21
GPIBD21
Keywords
Disclaimer
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