Phenotype #0000304592

Individual ID	00412600
Associated disease	BBS
Phenotype details	walked after the age of 2y; no polydactyly but a syndactyly between the second and the third toes; retinitis pigmentosa suspected at 3y7m months because of hemeralopia, confirmed at 8y on ophthalmologic examination; early overweight, at last medical examination -18y:weight: 116.5 kg (>+3SD) for 163 cm ( -2SD); learning difficulties that implied the need for special education; asthma; X-rays of the skeleton: no anomaly of the thorax, no polydactyly or brachydactyly; auditory evoked potential and audiogram: no deafness; cerebral magnetic resonance imaging and electroencephalogram: normal; renal ultrasound: no renal or hepatic anomalies, normal renal and hepatic functions and no diabetes
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	early developmental delay
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-01 18:28:31 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD