Phenotype #0000228747

Individual ID	00301647
Associated disease	EDS
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	Larsen of Reunion Island syndrome
Age/Examination	19y (19 years)
Diagnosis/Definite	EDSSPD1
Age/Onset	-
Phenotype/Onset	-
Phenotype details	birth length 41 cm, adult height 131 cm, BMI 17.1; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows; advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; bilateral Genu recurvatum
Hearing/Loss	-
Protein	-
CK-level	-
EMG	-
Muscle/Biopsy	-
Age/Diagnosis	-
Owner name	Francois Cartault
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-20 08:16:52 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD