Phenotype #0000228754

Individual ID	00301654
Associated disease	EDS
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	Larsen of Reunion Island syndrome
Age/Examination	29y (29 years)
Diagnosis/Definite	EDSSPD1
Age/Onset	-
Phenotype/Onset	-
Phenotype details	birth length 45 cm, adult height 120 cm, BMI 19.8; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; bifid thumb; no cleft palate; scoliosis/kyphosis; joint dislocations knees, elbows; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; no Swedish key; radioulnar synostosis; no 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