Login to search by marker and hierarchy!
-
Arthrogryposis, Distal, Type 2A
Relevant markers:
CamptodactylyClenched hand/sDeep set eyesDistal contractures/arthrogryposisFixed flexed elbowFlat faceH shaped dimplingHypoplastic noseLong philtrumMicrostomiaPolyhydramniosReceding foreheadTalipesUlnar deviationUndescended testesWhistling mouthParents markers:FaceFixed hip/sIntrauterine growth retardation (IUGR/SGA/FGR)Microcephaly
Involved genes:
(gene — definition — chromosome)MYH3 — MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC — 17p13.1 Other online databases: OrphaNet, OMIM, Geneva Foundation References: 2006 Prenat Diagn Case report Read on PubMed 2010 Indian J Pediatr Case report Read on PubMed Login for more details.