Disease #04063

Official abbreviation POF-8
Name ovarian failure, premature, type 8 (POF-8)
OMIM ID 615723
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene STAG3
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00029771 26059840-FamPatII1/2 PubMed: Le Quesne Stabej 2016, Journal: Le Quesne Stabej 2016 two affected sisters, unaffected parents F yes (Lebanon) Lebanese - 0 - - POF-8 see paper; ...; primary ovarian insufficiency with complete lack of any pubertal development and streak gonads STAG3 ACSF3, NDST1, STAG3, ZNF804B 7 2 Polona Le Quesne Stabej
00029856 - PubMed: Caburet 2014, Journal: Caburet 2014, PubMed: Caburet 2012 5-generation family, 5 affecteds (5F), unaffected heterozygous carriers - yes Israel Palestinian - 0 - - POF-8 see paper STAG3 ATP5J2-PTCD1, MOGAT3, MUC12, PTCD1, ST7, STAG3, ZAN 9 5 Johan den Dunnen
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