Disease #00646 (PPD2 (polydactyly, preaxial, type II (PPD-2)), OMIM:174500)

Official abbreviation PPD2
Name polydactyly, preaxial, type II (PPD-2)
OMIM ID 174500
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene LMBR1
Associated tissues -
Disease features autosomal dominant
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00107939 - PubMed: Laurell 2012 - - - - - - - - - PPD2 preaxial polydactyly, triphalangeal thumb LMBR1 LMBR1 1 1 Nadav Ahituv
00302565 Fam1 PubMed: Potuijt 2018 5-generation family, 18 affected (9F, 9M) F;M no Netherlands - - - - - PPD2 bilaterally triphalangeal thumb–polysyndactyly syndrome; at least one triphalangeal thumb on both hands, hands poly- and syndactylous block of digits anterior and posterior side, second and occasionally third digit present between both blocks; postaxial syndactyly and polydactyly both feet in patients V-4, V-5, and V-6; no other congenital anomalies LMBR1 LMBR1, SHH 1 18 Johan den Dunnen
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