Phenotype #0000279567

Individual ID 00385754
Associated disease CDG
Diagnosis/Initial congenital disorder of glycosylation
Diagnosis/Definite CDG1W
Phenotype details no intrauterine growth retardation; OFC normal; no long face; no high anterior hairline; no short palpebral fissures; no wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; mild motor developmental delay; speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; short stature (-2SD); skeletal abnormalities; no osteoarthritis; no muscle cramps; intellectual disability
Inheritance Unknown
Age/Examination 18y (18 years)
Age/Diagnosis 8y
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 2021-10-14 19:11:47 +02:00 (CEST)
Date last edited N/A

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