ARTHROGRYPOSIS, DISTAL, TYPE 2A

CRANIOCARPOTARSAL DYSPLASIA

http://purl.bioontology.org/ontology/OMIM/193700

CRANIOCARPOTARSAL DYSPLASIA

FREEMAN-SHELDON SYNDROME

WHISTLING FACE-WINDMILL VANE HAND SYNDROME

DA2A

FSS

CRANIOCARPOTARSAL DYSTROPHY

C0265224

17p13.1

CPSFS1A

MYH3

DA2A

CPSFS1B

DA2B3

DA8

http://purl.bioontology.org/ontology/OMIM/MTHU000565

http://purl.bioontology.org/ontology/OMIM/MTHU003911

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU023761

http://purl.bioontology.org/ontology/OMIM/MTHU002677

http://purl.bioontology.org/ontology/OMIM/MTHU023121

http://purl.bioontology.org/ontology/OMIM/MTHU014967

http://purl.bioontology.org/ontology/OMIM/MTHU001751

http://purl.bioontology.org/ontology/OMIM/MTHU023765

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU002310

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU014963

http://purl.bioontology.org/ontology/OMIM/MTHU002110

http://purl.bioontology.org/ontology/OMIM/MTHU004564

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU008733

http://purl.bioontology.org/ontology/OMIM/MTHU000324

http://purl.bioontology.org/ontology/OMIM/MTHU005905

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU005820

http://purl.bioontology.org/ontology/OMIM/MTHU023763

http://purl.bioontology.org/ontology/OMIM/MTHU014965

http://purl.bioontology.org/ontology/OMIM/MTHU000257

http://purl.bioontology.org/ontology/OMIM/MTHU036568

http://purl.bioontology.org/ontology/OMIM/MTHU007235

http://purl.bioontology.org/ontology/OMIM/MTHU002016

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU036440

http://purl.bioontology.org/ontology/OMIM/MTHU002378

http://purl.bioontology.org/ontology/OMIM/MTHU036361

http://purl.bioontology.org/ontology/OMIM/MTHU002599

http://purl.bioontology.org/ontology/OMIM/MTHU014966

http://purl.bioontology.org/ontology/OMIM/MTHU005747

http://purl.bioontology.org/ontology/OMIM/MTHU023764

http://purl.bioontology.org/ontology/OMIM/MTHU023762

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU014962

http://purl.bioontology.org/ontology/OMIM/MTHU008738

http://purl.bioontology.org/ontology/OMIM/MTHU003098

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU012892

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU037201

Phenotype description, molecular basis known.

193700

3

pound

ARTHROGRYPOSIS, DISTAL, TYPE 2A

Caused by mutation in the embryonic skeletal muscle myosin heavy chain 3 gene (MYH3, 160720.0001) [MOLECULAR BASIS]

Autosomal recessive form (277720) has also been described [MISCELLANEOUS]

See also DA2B (601680), which is an allelic disorder [MISCELLANEOUS]

Breech presentation [MISCELLANEOUS]

T047