Disease #01193 (BPES (blepharophimosis, ptosis, and epicanthus inversus (BPES)), OMIM:110100)

Official abbreviation BPES
Name blepharophimosis, ptosis, and epicanthus inversus (BPES)
OMIM ID 110100
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene FOXL2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-04-20 14:30:33 +02:00 (CEST)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00299430 - - - - - - - - - - - BPES - FOXL2 FOXL2 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00397492 patient PubMed: Giannakopoulos 2022 - F no Greece - - - - - BPES see paper; ..., amenorrhea, short stature, bilateral blepharophimosis, ptosis eyelids, cubitus valgus; breast/pubic hair Tanner III stage without any signs of further pubertal progression NR5A1 LHX4, NR5A1 2 1 Amalia Sertedaki
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