Phenotype #0000279150

Individual ID	00385354
Associated disease	-
Phenotype details	retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Asthma, DislipidemiaTeeth crowding, Micropenis, Cholelithiasis
Diagnosis/Initial	BardetBiedl Syndrome (BBS)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	43y6m (43 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2021-10-09 03:44:00 +02:00 (CEST)
Date last edited	N/A

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Global Variome shared LOVD