Could distal variants in ALG13 lead to atypical clinical presentation?

Keyphrases

• Atypical Presentation 100%
• ALG13 100%
• Proband 50%
• Glycosylation 50%
• Glycosyltransferase 50%
• During Pregnancy 25%
• Fibroblasts 25%
• Newborn Infant 25%
• Medical History 25%
• Congenital Disorders of Glycosylation 25%
• Adult Female 25%
• Neurological Features 25%
• Psychotic Features 25%
• Identified Genes 25%
• Functional Impact 25%
• Acute Onset 25%
• Functional Assessment 25%
• LAMP2 25%
• Hypomorphic mutation 25%
• Liver Dysfunction 25%
• Development History 25%
• Inherited Metabolic Diseases 25%
• Factor 9 25%
• Heterozygous Pathogenic Variants 25%
• Atypical Clinical Manifestation 25%
• Infantile Epileptic Encephalopathy 25%
• Kinetic Tremor 25%
• Neonatal Liver Failure 25%
• Gestational Alloimmune Liver Disease 25%
• Recurrent Pathogenic Variant 25%

Medicine and Dentistry

• Liver Disease 100%
• Glycosylation 100%
• Glycosyltransferase 100%
• Neonatal Infant 50%
• Carboxy Terminal Sequence 50%
• Medical History 50%
• Brain Disease 50%
• Liver Dysfunction 50%
• Functional Assessment 50%
• Factor IX 50%
• Congenital Disorder of Glycosylation 50%
• Fibroblast 50%
• Inborn Error of Metabolism 50%

Biochemistry, Genetics and Molecular Biology

• Glycosylation 100%
• Proband 100%
• Glycosyltransferase 100%
• C-Terminus 50%
• LAMP2 50%
• Congenital Disorder of Glycosylation 50%
• Factor IX 50%
• Fibroblast 50%
• Inborn Error of Metabolism 50%