Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000279569 Individual ID 00385756 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite CDG1W Phenotype details no intrauterine growth retardation; OFC 25th; no long face; high anterior hairline; short palpebral fissures; wide nasal bridge; no long/protruding ears; no thin upper lip vermilion; no prognathism; no inverted nipples; normal fat-distribution; no motor developmental delay; no speech delay; learning problems; increased muscle tone; no behavior abnormalities; no strabismus; short stature (<-2SD); scoliosis, dysplastic L5 vertebra; no osteoarthritis; no muscle cramps; muscle hypertrophy (biceps/quadriceps); no intellectual disability; easy bruising Inheritance Unknown Age/Examination 27y (27 years) Age/Diagnosis 14y Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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