Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

CORNELIA DE LANGE SYNDROME 2
Synonyms

CDLS, X-LINKED
ID

http://purl.bioontology.org/ontology/OMIM/300590
altLabel

CDLS, X-LINKED

CDLS2

CORNELIA DE LANGE SYNDROME, X-LINKED
cui

C1802395
Gene Locus

Xp11.22-p11.21
Gene Symbol

CDLS2

KIAA0178

SMC1A

SMC1

SMC1L1

DEE85

DXS423E
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003329

http://purl.bioontology.org/ontology/OMIM/MTHU005302

http://purl.bioontology.org/ontology/OMIM/MTHU000691

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

http://purl.bioontology.org/ontology/OMIM/MTHU000253

http://purl.bioontology.org/ontology/OMIM/MTHU004092

http://purl.bioontology.org/ontology/OMIM/MTHU008643

http://purl.bioontology.org/ontology/OMIM/MTHU004817

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU046972

http://purl.bioontology.org/ontology/OMIM/MTHU009409

http://purl.bioontology.org/ontology/OMIM/MTHU004213

http://purl.bioontology.org/ontology/OMIM/MTHU036369

http://purl.bioontology.org/ontology/OMIM/MTHU002392

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

http://purl.bioontology.org/ontology/OMIM/MTHU000583

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

http://purl.bioontology.org/ontology/OMIM/MTHU007254

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU002522

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

http://purl.bioontology.org/ontology/OMIM/MTHU003105

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU004166

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU036522

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

http://purl.bioontology.org/ontology/OMIM/MTHU001753

http://purl.bioontology.org/ontology/OMIM/MTHU008426

http://purl.bioontology.org/ontology/OMIM/MTHU001677

http://purl.bioontology.org/ontology/OMIM/MTHU005738

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

Phenotype description, molecular basis known.
notation

300590
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CORNELIA DE LANGE SYNDROME 2
Scope Statement

Caused by mutation in the structural maintenance of chromosomes 1A gene (SMC1A, 300040.0001) [MOLECULAR BASIS]

Female mutation carriers are less severely affected than male mutation carriers [MISCELLANEOUS]
tui

T047
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