Phenotype #0000311205

Individual ID	00419938
Associated disease	CDG
Diagnosis/Initial	congenital disorder of glycosylation
Diagnosis/Definite	CDG2B
Phenotype details	see paper; ..., brachycephaly; short palperal fissure; long eyelashes; broad nasal tip or nasal arch; high-arched palate; smooth philtrum; downturned corner of mouth; retrognathia; hirsutism; hand or finger deformities; limb and foot defomities; cortical visual impairment; nystagmus; developmental delay; intellectual disability; hypotonia; no sensorineural hearing impairment; 2d-onset seizures, generalized tonic-clonic seizures; EEG-compatible with West syndrome; delayed eruption; osteopenia; no scoliosis; low level of IgG (135), IgA (<7), IgM (13); recurrent infections; hypoventilation; apnea; no cardiac abnormalities; constipation; gastroesophageal reflux; hepatomegaly, liver steatosis; normal aminotransferase; aminoaciduria; no hydronephrosis; no hypoplastic genitalia;
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-27 12:30:38 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD