EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE (EDSHMB)

Question 1

What is  EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE (EDSHMB)?

Accepted Answer

rare

autosomal recessive

autosomal dominant

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 130020

Disease	EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE (EDSHMB)
Synonym	EHLERS-DANLOS SYNDROME, TYPE III; EDS3
OMIM	130020 OMIM = Online Mendelian Inheritance of Men
Orphanet	285
Gene locus
ICD	Q79.6
Summary	rare autosomal recessive autosomal dominant
Laboratory findings
Symptoms	tachykardia behavior, anxiety cardiac involvement, cardiac defects fatigue, severe or unusual gastrointestinal dysmotility joint hypermobilty, dislocations, laxity onset, adolescent onset, childhood onset, infancy Osteoarthritis pain, bones or joints skin hyperelasticity