Phenotype #0000279583

Individual ID 00385770
Associated disease CDG
Diagnosis/Initial congenital disorder of glycosylation
Diagnosis/Definite CDG1W
Phenotype details see paper; ..., microcephaly; developmental delay; intellectual disability; seizures; normal visual development; no hypotonia; self-injurious behavior; no sleep disturbance; stereotypic behaviors; no episodic hypothermia, no reduced consciousness; no failure to thrive; no feeding problems; no gastrointestinal symptoms/gastrostomy
Inheritance Familial, autosomal recessive
Age/Examination 17y (17 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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