BEARE-STEVENSON CUTIS GYRATA SYNDROME

BSTVS

http://purl.bioontology.org/ontology/OMIM/123790

BSTVS

CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON

BEARE-STEVENSON SYNDROME

C1852406

10q26

TK14

FGFR2

BEK

BBDS

JWS

CFD1

http://purl.bioontology.org/ontology/OMIM/MTHU000061

http://purl.bioontology.org/ontology/OMIM/MTHU018771

http://purl.bioontology.org/ontology/OMIM/MTHU041221

http://purl.bioontology.org/ontology/OMIM/MTHU001627

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU012780

http://purl.bioontology.org/ontology/OMIM/MTHU004139

http://purl.bioontology.org/ontology/OMIM/MTHU001173

http://purl.bioontology.org/ontology/OMIM/MTHU001649

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU014693

http://purl.bioontology.org/ontology/OMIM/MTHU002205

http://purl.bioontology.org/ontology/OMIM/MTHU018769

http://purl.bioontology.org/ontology/OMIM/MTHU018767

http://purl.bioontology.org/ontology/OMIM/MTHU036653

http://purl.bioontology.org/ontology/OMIM/MTHU041223

http://purl.bioontology.org/ontology/OMIM/MTHU003772

http://purl.bioontology.org/ontology/OMIM/MTHU003499

http://purl.bioontology.org/ontology/OMIM/MTHU018770

http://purl.bioontology.org/ontology/OMIM/MTHU002092

http://purl.bioontology.org/ontology/OMIM/MTHU041222

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU013662

http://purl.bioontology.org/ontology/OMIM/MTHU000559

http://purl.bioontology.org/ontology/OMIM/MTHU018768

Phenotype description, molecular basis known.

123790

3

pound

BEARE-STEVENSON CUTIS GYRATA SYNDROME

Early death in patients with cloverleaf skull [MISCELLANEOUS]

Reported cases all sporadic [MISCELLANEOUS]

Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0015) [MOLECULAR BASIS]

Increased paternal age [MISCELLANEOUS]

T047