Global Variome shared LOVD
PIGU (phosphatidylinositol glycan anchor biosynthes...)
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Curator:
Philippe Campeau
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Phenotype #0000073651
Individual ID
00095255
Associated disease
BAMS
Phenotype details
complete arhinia; microphthalmia, bilateral strabismus; hypertelorism, High arched palate, Choanal atresia, Absent nasolacrimal ducts; delayed menstruation requiring hormone induction at puberty; normal growth; normal psychomotor development
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
28y (28 years)
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2017-01-13 12:30:06 +01:00 (CET)
Date last edited
2017-01-13 12:35:56 +01:00 (CET)
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