Disease #00610 (CDLS1 (Cornelia de Lange syndrome, type 1 (CDLS-1)), OMIM:122470)

Official abbreviation CDLS1
Name Cornelia de Lange syndrome, type 1 (CDLS-1)
OMIM ID 122470
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene NIPBL
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00306228 135 - - F - China - - - - - CDLS1 - NIPBL NIPBL 1 1 Sha Hong
00335380 177107 - - M ? Germany - - 0 - - CDLS1 - NIPBL NIPBL 1 1 Andreas Laner
00380834 14 PubMed: Ivanova 2018 - ? - - - - 0 - - CDLS1 - NIPBL NIPBL 1 1 LOVD
00391016 182139 - - M no Germany - - 0 - - CDLS1 Intrauterine growth retardation, Short long bone, Abnormality of long bone morphology, Abnormal appendicular skeleton morphology, Prenatal maternal abnormality, Preeclampsia, Abnormality of prenatal development or birth NIPBL NIPBL 1 1 Andreas Laner
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