Disease #00779 (OPD2 (otopalatodigital syndrome, type II (OPD-2)), OMIM:304120)

Official abbreviation OPD2
Name otopalatodigital syndrome, type II (OPD-2)
OMIM ID 304120
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 20
Phenotype entries for this disease 20
Associated with 1 gene FLNA
Associated tissues -
Disease features -
Remarks -


Individuals

20 entries on 1 page. Showing entries 1 - 20.
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00027224 - PubMed: Fennell 2015, Journal: Fennell 2015 - F no - - - 0 - - OPD2 , see paper; sagittal sutures affected, broad prominent forehead/brow ridge, no micro/retrognathia, no camptodactyly/arthrogryposis, broad/flattened/spatulateterminal digits; hHypertelorism, cleft palate, ... FLNA FLNA 1 1 Stephen Robertson
00028707 - PubMed: Robertson 2003, PubMed: Robertson 1997, PubMed: Robertson 2001 - M - - - - 0 - - OPD2 omphalocele, perinatal death, bowed bones, abnormal digits FLNA FLNA 1 3 Yu Sun
00028708 - PubMed: Robertson 2003, PubMed: Young 1993 - M - - - - 0 - - OPD2 hydrocephalus, omphalocele, perinatal death, bowed bones, abnormal digits, cleft palate FLNA FLNA 1 2 Yu Sun
00028709 - PubMed: Robertson 2003, PubMed: Young 1993 - M - - - - 0 - - OPD2 hydrocephalus, omphalocele, perinatal death, bowed bones, abnormal digits, cleft palate FLNA FLNA 1 2 Yu Sun
00028710 - PubMed: Robertson 2003, PubMed: Savarirayan 2000 - M - - - - 0 - - OPD2 omphalocele, perinatal death, bowed bones, abnormal digits, cleft palate FLNA FLNA 1 2 Yu Sun
00028727 - PubMed: Robertson 2003 - F - - - - 0 - - OPD2 short stature, bowed bones, abnormal digits, cleft palate FLNA FLNA 1 1 Yu Sun
00028729 - PubMed: Robertson 2003 - F - - - - 0 - - OPD2 cleft palate FLNA FLNA 1 1 Yu Sun
00028730 - PubMed: Robertson 2003 - F - - - - 0 - - OPD2 perinatal death, short stature, bowed bones, abnormal digits, cleft palate FLNA FLNA 1 1 Yu Sun
00028833 - PubMed: Marino-Enriquez 2007 - M - - - - 0 - - OPD2 - FLNA FLNA 1 1 Yu Sun
00028834 - PubMed: Marino-Enriquez 2007 - M - - - - 0 - - OPD2 - FLNA FLNA 1 1 Yu Sun
00028856 - PubMed: Robertson 2003, PubMed: Verloes 2000 - M - - - - 0 - - OPD2 hydrocephalus, short stature, bowed bones, abnormal digits FLNA FLNA 1 2 Yu Sun
00028857 - PubMed: Robertson 2003, PubMed: Horn 1995 - M - - - - 0 - - OPD2 short stature, bowed bones, abnormal digits FLNA FLNA 1 2 Yu Sun
00028861 - PubMed: Robertson 2003, PubMed: Andre 1981 - M - - - - 0 - - OPD2 perinatal death, short stature, bowed bones, abnormal digits, cleft palate FLNA FLNA 1 2 Yu Sun
00028862 - PubMed: Robertson 2003, PubMed: Stratton 1991 - M - - - - 0 - - OPD2 hydrocephalus, short stature, bowed bones, abnormal digits, cleft palate FLNA FLNA 1 2 Yu Sun
00028879 - - - - - South Africa - - 0 - - OPD2 - FLNA FLNA 1 1 Yu Sun
00051523 - - - F no Lebanon - - 0 - - OPD2 - FLNA FLNA 1 1 Sébastien Moutton
00051524 - - - F no France - - 0 - - OPD2 - FLNA FLNA 1 1 Sébastien Moutton
00051525 - - - F no France - - 0 - - OPD2 - FLNA FLNA 1 1 Sébastien Moutton
00051526 - - - M no France - - 0 - - OPD2 - FLNA FLNA 1 1 Sébastien Moutton
00306115 - - - M no Finland - - - - - OPD2 Bilateral choanal stenosis Intestinal malrotation Bilateral cryptorchidism - FLNA 1 1 Laura Tanner
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