Phenotype #0000279579

Individual ID 00385766
Associated disease CDG
Diagnosis/Initial congenital disorder of glycosylation
Diagnosis/Definite CDG1W
Phenotype details see paper; ..., microcephaly; developmental delay; intellectual disability; no cerebellar atrophy; seizures; abnormal visual development; optic atrophy; hypotonia; no self-injurious behavior; no sleep disturbance; no stereotypic behaviors; episodic hypothermia, reduced consciousness; failure to thrive; feeding problems; gastrointestinal symptoms/gastrostomy
Inheritance Familial, autosomal recessive
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-10-15 09:33:58 +02:00 (CEST)
Date last edited N/A

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