KOOLEN-DE VRIES SYNDROME

KDVS

http://purl.bioontology.org/ontology/OMIM/610443

KDVS

MICRODELETION 17q21.31 SYNDROME

CHROMOSOME 17q21.31 DELETION SYNDROME

C1864871

17q21.31

KDVS

MSL1V1

KIAA1267

KANSL1

http://purl.bioontology.org/ontology/OMIM/MTHU005792

http://purl.bioontology.org/ontology/OMIM/MTHU068785

http://purl.bioontology.org/ontology/OMIM/MTHU001747

http://purl.bioontology.org/ontology/OMIM/MTHU001601

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

http://purl.bioontology.org/ontology/OMIM/MTHU036757

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

http://purl.bioontology.org/ontology/OMIM/MTHU013761

http://purl.bioontology.org/ontology/OMIM/MTHU025207

http://purl.bioontology.org/ontology/OMIM/MTHU057673

http://purl.bioontology.org/ontology/OMIM/MTHU068783

http://purl.bioontology.org/ontology/OMIM/MTHU068787

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

http://purl.bioontology.org/ontology/OMIM/MTHU001611

http://purl.bioontology.org/ontology/OMIM/MTHU068791

http://purl.bioontology.org/ontology/OMIM/MTHU002602

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU066292

http://purl.bioontology.org/ontology/OMIM/MTHU001050

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

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU003461

http://purl.bioontology.org/ontology/OMIM/MTHU000267

http://purl.bioontology.org/ontology/OMIM/MTHU001305

http://purl.bioontology.org/ontology/OMIM/MTHU016459

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

http://purl.bioontology.org/ontology/OMIM/MTHU017073

http://purl.bioontology.org/ontology/OMIM/MTHU004085

http://purl.bioontology.org/ontology/OMIM/MTHU004733

http://purl.bioontology.org/ontology/OMIM/MTHU012111

http://purl.bioontology.org/ontology/OMIM/MTHU008495

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

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU058770

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

http://purl.bioontology.org/ontology/OMIM/MTHU068788

http://purl.bioontology.org/ontology/OMIM/MTHU068782

http://purl.bioontology.org/ontology/OMIM/MTHU068786

http://purl.bioontology.org/ontology/OMIM/MTHU044719

http://purl.bioontology.org/ontology/OMIM/MTHU068789

http://purl.bioontology.org/ontology/OMIM/MTHU001819

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU036450

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU000564

http://purl.bioontology.org/ontology/OMIM/MTHU013691

http://purl.bioontology.org/ontology/OMIM/MTHU068792

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU039050

http://purl.bioontology.org/ontology/OMIM/MTHU007688

http://purl.bioontology.org/ontology/OMIM/MTHU068790

http://purl.bioontology.org/ontology/OMIM/MTHU068784

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

http://purl.bioontology.org/ontology/OMIM/MTHU061182

http://purl.bioontology.org/ontology/OMIM/MTHU000710

http://purl.bioontology.org/ontology/OMIM/MTHU004136

http://purl.bioontology.org/ontology/OMIM/MTHU002343

http://purl.bioontology.org/ontology/OMIM/MTHU036338

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

http://purl.bioontology.org/ontology/OMIM/MTHU026569

http://purl.bioontology.org/ontology/OMIM/MTHU004285

http://purl.bioontology.org/ontology/OMIM/MTHU003535

http://purl.bioontology.org/ontology/OMIM/MTHU001852

http://purl.bioontology.org/ontology/OMIM/MTHU013237

http://purl.bioontology.org/ontology/OMIM/MTHU021901

http://purl.bioontology.org/ontology/OMIM/MTHU060533

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

http://purl.bioontology.org/ontology/OMIM/MTHU004024

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU058764

http://purl.bioontology.org/ontology/OMIM/MTHU021287

Phenotype description, molecular basis known.

610443

3

pound

KOOLEN-DE VRIES SYNDROME

De novo mutation Estimated prevalence of 1 in 16,000 [MISCELLANEOUS]

Contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism [MISCELLANEOUS]

Caused by mutation in the KAT8 regulatory NSL complex subunit 1 gene (KANSL1, 612452.0001) [MOLECULAR BASIS]

Contiguous gene syndrome caused by microdeletion (600-800kb) of chromosome 17q21.31 encompassing genes CRHR1 (122561), MAPT (157140), STH (607067), IMP5 (608284), and KANSL1 (612452) [MOLECULAR BASIS]

T047