Global Variome shared LOVD

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Phenotype #0000279568 Individual ID 00385755 Associated disease CDG Diagnosis/Initial congenital disorder of glycosylation Diagnosis/Definite CDG1W Phenotype details intrauterine growth retardation; OFC 3rd; long face; high anterior hairline; short palpebral fissures; wide nasal bridge; long/protruding ears; thin upper lip vermilion; prognathism; inverted nipples; abnormal fat-distribution; severe motor developmental delay; speech delay, nonverbal; learning problems; increased muscle tone, spastic diplegia; aggressivity; strabismus, retinal dystrophy; MRI brain arachnoid cyst, large posterior fossa; failure to thrive; short stature (-2SD); spondylo-metaphyseal dysplasia brachydactyly; no osteoarthritis; muscle cramps; muscle hypertrophy (biceps/quadriceps); severe intellectual disability; mastoid granulomatosis Inheritance Isolated (sporadic) Age/Examination 12y (12 years) Age/Diagnosis 7m 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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