Phenotype #0000272173

Individual ID	00376980
Associated disease	CDG
Diagnosis/Initial	congenital glycosylation disorder
Diagnosis/Definite	-
Phenotype details	birth full term, weight 3685g; length 79cm (-1.0SD, 18 mo), 18m-OFC 48cm (0.0SD), 18m-weight 9.4kg (-1.9SD); developmental delay; speech delay; no seizures; hypotonia; noi behavioral disturbances; failure to thrive; narrow palpebral fissures; no epicanthal folds; increased nasal height; bulbous tip; hypoplastic alae nasi; smooth philtrum; short philtrum; thin upper lip; retrognatia; deep set eyes, intermittent strabismus, cleft palate; no eye abnormalities; no ear abnormalities; normal extremities; no genital abnormalities; atypical hair growth pattern and whorl, early feeding difficulties required nasogastric tube
Inheritance	Familial, autosomal recessive
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Johan den Dunnen
Date created	2021-06-28 16:11:27 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD