Disease #01045

Official abbreviation GBBB-2
Name Opitz GBBB syndrome, type 2, autosomal dominant (GBBB-2)
OMIM ID 145410
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 2 genes HIRA, SPECC1L
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00029712 - PubMed: Kruszka 2015, Journal: Kruszka 2015 3-generation family, affected grandmother, 2 daugthers and 4 grand children (F, 3M) - no United States - - 0 - - GBBB-2 see paper; .. EFNB1, MID1, SPECC1L SPECC1L 1 7 Johan den Dunnen
00029713 - PubMed: Kruszka 2015, Journal: Kruszka 2015 3-generation family, affected grandmother, 2 daugthers/3 sons and 2 grandchildren (2F) - no United States - - 0 - - GBBB-2 see paper; .. SPECC1L SPECC1L 1 8 Johan den Dunnen
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