Phenotype #0000242216

Individual ID 00320170
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details Thin upper lip vermilion (HP:0000219); Long philtrum (HP:0000343); Hyperopic astigmatism (HP:0000484); Delayed speech and language development (HP:0000750); Pallor (HP:0000980); Failure to thrive (HP:0001508); Short stature (HP:0004322); Abnormal fucosylation of protein N-linked glycosylation (HP:0012352); Abnormal fucosylation of O-linked protein glycosylation (HP:0012359)
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Date created 2020-11-23 17:43:01 +01:00 (CET)
Date last edited 2020-12-08 10:25:35 +01:00 (CET)

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