Phenotype #0000228846

Individual ID	00301748
Associated disease	EDS
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	Ehlers-Danlos-syndrome
Age/Examination	10y (10 years)
Diagnosis/Definite	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	severe S-formed scoliosis, ptosis right eyelid, asymmetrical face, midface hypoplasia, shallow orbitae with pseudoexophtalmus, bilateral adducted thumbs, non progressive flexion contractures proximal finger joints, atrophy thenar muscles, overall poor muscle development; 2y-bilateral sensorineural deafness; thin and soft skin, without scarring, reduced skin creases both palms; motor development slightly retarded, cognitive function mildly impaired; sister similarly affected, no significant scoliosis
Hearing/Loss	-
Protein	-
CK-level	-
EMG	-
Muscle/Biopsy	-
Age/Diagnosis	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-22 19:17:06 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD