Disease #00007

Official abbreviation LCCS-1
Name contracture syndrome, lethal, congenital, type 1 (LCCS-1)
OMIM ID 253310
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 3
Phenotype entries for this disease 5
Associated with 1 gene GLE1
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00001503 - - - M - - - - - - - CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LAAHD, LCCS-1, LGMD-2I;MDDGC-5, MCLMR, PSORP, USH-3B ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
00016592 - PubMed: Ellard et al 2014 This entry represents 2 fetuses, from the same couple, affected with with fetal akinesia syndrome (pterygia and joint contractures), all terminated at 15-20 weeks gestation - no United Kingdom (Great Britain) white European 00y00m00d 0 - - LCCS-1 - GLE1 2 2 Hana Lango-Allen
00095112 - - - - ? - - - 0 Yes - LCCS-1 - GLE1 2 1 Karen Stals
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