SCHWARTZ-JAMPEL SYNDROME, TYPE 1

SCHWARTZ-JAMPEL-ABERFELD SYNDROME

http://purl.bioontology.org/ontology/OMIM/255800

SCHWARTZ-JAMPEL-ABERFELD SYNDROME

SJA SYNDROME

SJS

SCHWARTZ-JAMPEL SYNDROME

CHONDRODYSTROPHIC MYOTONIA

SJS1

MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES

C0036391

C4551479

1p36.1

SJS1

PLC

SJA

SJS

HSPG2

http://purl.bioontology.org/ontology/OMIM/MTHU032356

http://purl.bioontology.org/ontology/OMIM/MTHU010808

http://purl.bioontology.org/ontology/OMIM/MTHU010800

http://purl.bioontology.org/ontology/OMIM/MTHU010803

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU010801

http://purl.bioontology.org/ontology/OMIM/MTHU010797

http://purl.bioontology.org/ontology/OMIM/MTHU002079

http://purl.bioontology.org/ontology/OMIM/MTHU010809

http://purl.bioontology.org/ontology/OMIM/MTHU006937

http://purl.bioontology.org/ontology/OMIM/MTHU004637

http://purl.bioontology.org/ontology/OMIM/MTHU010805

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU000507

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

http://purl.bioontology.org/ontology/OMIM/MTHU008519

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU004805

http://purl.bioontology.org/ontology/OMIM/MTHU010810

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU010806

http://purl.bioontology.org/ontology/OMIM/MTHU001789

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

http://purl.bioontology.org/ontology/OMIM/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU000921

http://purl.bioontology.org/ontology/OMIM/MTHU001153

http://purl.bioontology.org/ontology/OMIM/MTHU000681

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

http://purl.bioontology.org/ontology/OMIM/MTHU010807

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

http://purl.bioontology.org/ontology/OMIM/MTHU001429

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU009456

http://purl.bioontology.org/ontology/OMIM/MTHU000038

http://purl.bioontology.org/ontology/OMIM/MTHU010802

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU010799

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

http://purl.bioontology.org/ontology/OMIM/MTHU000604

http://purl.bioontology.org/ontology/OMIM/MTHU010804

http://purl.bioontology.org/ontology/OMIM/MTHU036449

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU007248

http://purl.bioontology.org/ontology/OMIM/MTHU036821

http://purl.bioontology.org/ontology/OMIM/MTHU005783

http://purl.bioontology.org/ontology/OMIM/MTHU005815

http://purl.bioontology.org/ontology/OMIM/MTHU010798

http://purl.bioontology.org/ontology/OMIM/MTHU000585

http://purl.bioontology.org/ontology/OMIM/MTHU002237

http://purl.bioontology.org/ontology/OMIM/MTHU009597

http://purl.bioontology.org/ontology/OMIM/MTHU010796

Phenotype description, molecular basis known.

255800

3

pound

SCHWARTZ-JAMPEL SYNDROME, TYPE 1

Anesthesia complications include difficult intubation secondary to microstomia and risk of malignant hyperthermia [MISCELLANEOUS]

Caused by mutation in the perlecan gene (HSPG2, 142461.0001) [MOLECULAR BASIS]

Contractures most severe by midadolescence [MISCELLANEOUS]

Progressive disease with onset in infancy [MISCELLANEOUS]

T047