Phenotype #0000309990

Individual ID	00418691
Associated disease	BBS
Phenotype details	polydactyly (specifically hexadactyly) of all four limbs, congenital heart disease, blindness and obesity; hypothyroidism; dental anomalies such as crowding of the teeth; urinalysis, complete blood count and renal function tests: normal; normal facies; no hearing impairment; normal maturation at puberty, normal secondary sexual characteristics such as pubic hair and regular menses; 1y: surgery for correcting the postaxial polydactyly of the four limbs; 2y: learned to walk and speak, but had difficulty in finding words, 8y: learning disability noted and complaint of night blindness; 10y: complete blindness; family history of death due to renal dysfunction in her maternal uncle, who had displayed similar phenotypic characteristics
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-10-04 13:16:41 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD