Disease #01065 (CDLS2 (Cornelia de Lange syndrome, type 2 (CDLS-2)), OMIM:300590)

Official abbreviation CDLS2
Name Cornelia de Lange syndrome, type 2 (CDLS-2)
OMIM ID 300590
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SMC1A
Associated tissues -
Disease features cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; syndactyly; organ abnormalities; cardiac defects; limb reductions; hearing loss; no skin pigmentation abnormalities; no elevated cancer incidence; no bone marrow/hematopoietic defects
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-08-31 23:37:40 +02:00 (CEST)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00080991 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - CDLS2 Cornelia de Lange syndrome 2 (OMIM:300590) SMC1A SMC1A 1 1 Daniel Trujillano
00444353 277705 - - F ? India - - - - - CDLS2 Global developmental delay, Delayed speech and language development, Intellectual disability, Failure to thrive, Short stature, Microcephaly, Decreased body weight, Limited elbow extension SMC1A SMC1A 1 1 Andreas Laner
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