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PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
DDD Study Group
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Keyphrases
Clinical Characteristics
100%
Facial Gestalt
100%
Seizure
66%
Hypotonia
66%
Computer-assisted
66%
First Day
33%
Epilepsy
33%
Rare Disorders
33%
Genotype-phenotype Correlation
33%
Epilepsy Onset
33%
Epileptic Encephalopathy
33%
Severe Developmental Delay
33%
Neonatal Onset
33%
Electroclinical Syndrome
33%
Genetic Testing
33%
Gene-specific
33%
Genetic Subtypes
33%
Multiple Congenital Anomalies
33%
Phenotype Space
33%
Heterozygous Pathogenic Variants
33%
Developmental Epilepsy
33%
Seizure Disorder
33%
Compound Heterozygous mutation
33%
Biochemistry, Genetics and Molecular Biology
Glycosylphosphatidylinositol
100%
Genetic Screening
50%
Genetics
50%
Phenotype
50%
Genotype Phenotype Correlation
50%