Phenotype #0000203691

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00265913
Associated disease	BBS
Phenotype details	height 126cm (-0.1 SD), no polydactyly, walking difficulties, speech impairment, blindness, no macrocephaly, no alopecia, no scoliosis, no cutis laxa, no umbilical hernia, no facial coarsening
Diagnosis/Initial	Bardet-Biedl syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	BBS-7
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Sadaf Naz
Database submission license
Created by	Johan den Dunnen
Date created	2019-10-11 17:14:21 +02:00 (CEST)
Date last edited	N/A

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