Phenotype #0000311207

Individual ID 00419940
Associated disease CDG
Diagnosis/Initial congenital disorder of glycosylation
Diagnosis/Definite CDG2B
Phenotype details see paper; ..., no brachycephaly; no short palperal fissure; no long eyelashes; no broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; no hirsutism; hand or finger deformities; no limb and foot defomities; no visual impairment; no nystagmus; no strabismus; small lens opacity (left), hyperopia, astigmatism; developmental delay; intellectual disability; hypotonia; no neuropathy; sensorineural hearing impairment; no seisures; EEG-normal; caries; no scoliosis; recurrent infections; no hypoventilation; no apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; no hepatomegaly; no hypoalbuminemia; mild elevated AST; no aminoaciduria; no hydronephrosis; no hypoplastic genitalia;
Inheritance Familial, autosomal recessive
Age/Examination 6y6m (6 years, 6 months)
Age/Diagnosis -
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 2022-10-27 12:30:38 +02:00 (CEST)
Date last edited N/A

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