Global Variome shared LOVD

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Phenotype #0000279565 Individual ID 00385752 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; thin upper lip vermilion; no prognathism; inverted nipples; abnormal fat-distribution; no motor developmental delay; mild speech delay; learning problems; no increased muscle tone; no behavior abnormalities; no strabismus; MRI brain persistent cavum septum pellucidum; obesity; no short stature; no skeletal abnormalities; no osteoarthritis; no muscle cramps; no muscle hypertrophy; mild intellectual disability; eczema, hyper-trichosis Inheritance Isolated (sporadic) Age/Examination 15y (15 years) Age/Diagnosis 10y 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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