Phenotype #0000311215

Individual ID 00419948
Associated disease CDG
Diagnosis/Initial congenital disorder of glycosylation
Diagnosis/Definite CDG2B
Phenotype details see paper; ..., 10m-deceased; short palperal fissure; no long eyelashes; broad nasal tip or nasal arch; high-arched palate; ; ; ; developmental delay; ; sensorineural hearing impairment; no seisures; ; immunological abnormalities; cardiac abnormalities; no constipation; hepatomegaly; elevated aminotransferase; no hypoplastic genitalia; central hypothyroidism;
Inheritance Familial, autosomal recessive
Age/Examination 10m
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 2022-10-27 12:30:38 +02:00 (CEST)
Date last edited N/A

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