Phenotype #0000309984

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00418685
Associated disease	BBS
Phenotype details	retinitis pigmentosa; postaxial polydactyly hands only; obesity; hypogonadism; cognitive impairment: severe; renal impairment: present; dental anomaly: absent; clinodactyly/brachydactyly: present
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-10-04 12:10:24 +02:00 (CEST)
Date last edited	N/A

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