Phenotype #0000272176

Individual ID	00376983
Associated disease	CDG
Diagnosis/Initial	congenital glycosylation disorder
Diagnosis/Definite	-
Phenotype details	birth-40w+0, weight 3030g, length 52cm; mild intellectual disability; developmental delay; speech delay; no seizures; no hypotonia; delayed responses in social situations; history of central apnea as baby, self limiting; no narrow palpebral fissures; epicanthal folds (Hindu); increased nasal height; bulbous tip; no hypoplastic alae nasi; no smooth philtrum; no short philtrum; no thin upper lip; no retrognatia; droopy eyelids, high palate, full lips, low posterior hair line, mild webbing of the shoulders, narrow temporal skull; no eye abnormalities; no ear abnormalities; born with a Poland sequence: left arm muscles and pectoral muscle underdeveloped, left wrist impaired supination and pronation, mild atrophy of the left thenar muscle and short metacarpal bones of the first digits.; dextrocardia and a mild thoracic scoliosis
Inheritance	Familial, autosomal recessive
Age/Examination	33y (33 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