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 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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