Disease #00772 (CDLS-5 (Cornelia de Lange syndrome, type 5 (CDLS-5)), OMIM:300882)

Official abbreviation CDLS-5
Name Cornelia de Lange syndrome, type 5 (CDLS-5)
OMIM ID 300882
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 13
Phenotype entries for this disease 13
Associated with 1 gene HDAC8
Associated tissues -
Disease features -
Remarks -


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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AscendingIndividual ID     

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00043824 - - - F no - - - 0 - - CDLS-5 - HDAC8 HDAC8 1 1 Ilaria Parenti
00043825 - - - F no - - - 0 - - CDLS-5 - HDAC8 HDAC8 1 1 Ilaria Parenti
00043827 - - - F no - - - 0 - - CDLS-5 - HDAC8 HDAC8 1 1 Ilaria Parenti
00043828 - - - F no Italy - - 0 - - CDLS-5 - HDAC8 HDAC8 1 1 Ilaria Parenti
00043829 - - - F no Italy - - 0 - - CDLS-5 - HDAC8 HDAC8 1 1 Ilaria Parenti
00043830 - - - M no Italy - - 0 - - CDLS-5 - HDAC8 HDAC8 1 1 Ilaria Parenti
00043831 - - - F no (Germany) - - 0 - - CDLS-5 - HDAC8 HDAC8 1 1 Ilaria Parenti
00043832 - - - M no (Germany) - 02y 0 - - CDLS-5 - HDAC8 HDAC8 1 1 Ilaria Parenti
00043833 - - - F no Italy - - 0 - - CDLS-5 - HDAC8 HDAC8 1 1 Ilaria Parenti
00043834 - - - F no (Sweden) - - 0 - - CDLS-5 - HDAC8 HDAC8 1 1 Ilaria Parenti
00043835 - - - M no (Spain) - - 0 - - CDLS-5 - HDAC8 HDAC8 1 1 Ilaria Parenti
00380778 ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - CDLS-5 DD; ID; dysmorphic features; microcephaly (Multiple systems) - HDAC8 1 1 LOVD
00380779 ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - CDLS-5 DD; ID; hirsutism; short stature; microcephaly (Multiple systems) - HDAC8 1 1 LOVD
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