Phenotype #0000050422

Individual ID 00063832
Associated disease BBS
Phenotype details CRD/RP, polydactyly, hypogonadism, developmental delay, irregular menstruation, low progesterone levels, diabetes, borderline hepatomegaly with fatty infiltration, abnormally high cholesterol level, elevated liver enzymes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Muhammad Ajmal
Database submission license No license selected
Created by Muhammad Ajmal
Date created 2016-04-18 19:14:57 +02:00 (CEST)
Date last edited 2016-04-19 09:16:14 +02:00 (CEST)

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