Disease #00778 (OPD-1 (otopalatodigital syndrome, type I (OPD-1)), OMIM:311300)

Official abbreviation OPD-1
Name otopalatodigital syndrome, type I (OPD-1)
OMIM ID 311300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 1 gene FLNA
Associated tissues -
Disease features -
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Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00028703 - PubMed: Robertson 2003, PubMed: Dudding 1967 - M - - - - 0 - - OPD-1 short stature, bowed bones, abnormal digits, cleft palate FLNA FLNA 1 2 Yu Sun
00028704 - PubMed: Robertson 2003, PubMed: Biancalana 1991, PubMed: Le Marec - M - - - - 0 - - OPD-1 bowed bones, abnormal digits, cleft palate FLNA FLNA 1 3 Yu Sun
00028705 - PubMed: Robertson 2006 unaffected parents, 2 healthy siblings, affected brother; mother germline mosaic M - - - - 0 - - OPD-1 - FLNA FLNA 1 1 Yu Sun
00028706 - PubMed: Robertson 2006 unaffected parents, 2 healthy siblings, affected brother; mother germline mosaic M - - - - 0 - - OPD-1 - FLNA FLNA 1 1 Yu Sun
00028741 - PubMed: Stefenova 2005 mother of III-2,III-3 F - - - - 0 - - OPD-1 - FLNA FLNA 1 1 Yu Sun
00028742 - PubMed: Stefenova 2005 mother of IV-2 F - - - - 0 - - OPD-1 - FLNA FLNA 1 1 Yu Sun
00028743 - PubMed: Stefenova 2005 mother of IV-3 F - - - - 0 - - OPD-1 - FLNA FLNA 1 1 Yu Sun
00028744 - PubMed: Stefenova 2005 daughter of III-2 F - - - - 0 - - OPD-1 - FLNA FLNA 1 1 Yu Sun
00028745 - PubMed: Stefenova 2005 daughter of III-3 F - - - - 0 - - OPD-1 - FLNA FLNA 1 1 Yu Sun
00028746 - PubMed: Stefenova 2005 mother of II-3 F - - - - 0 - - OPD-1 - FLNA FLNA 1 1 Yu Sun
00028750 - PubMed: Hidalgo-Bravo 2005 healthy parents and nine healthy siblings F - Mexico - - 0 - - OPD-1 - FLNA FLNA 1 1 Yu Sun
00028758 - PubMed: Zenker 2006 healthy parents F - - - - 0 - - OPD-1 frontometaphyseal dysplasia/frontometaphyseal dysplasia FLNA FLNA 1 1 Yu Sun
00028860 - PubMed: Robertson 2003 - M - - - - 0 - - OPD-1 abnormal digits, cleft palate FLNA FLNA 1 1 Yu Sun
00028863 - PubMed: Robertson 2003 - M - - - - 0 - - OPD-1 abnormal digits, cleft palate FLNA FLNA 1 1 Yu Sun
00051503 - - - M no Martinique martinique - 0 - - OPD-1 - FLNA FLNA 1 1 Sébastien Moutton
00051522 - - - M no Sweden - - 0 - - OPD-1 - FLNA FLNA 1 1 Sébastien Moutton
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