Disease - Glycosylphosphatidylinositol biosynthesis defect 21
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
GPIBD21
Synonyms
NEDBSS
Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis
Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis
Keywords
Disclaimer
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