Phenotype #0000315281

Individual ID	00424074
Associated disease	BBS
Phenotype details	current body mass index: 23.1; kidney: end-stage renal disease, transplant; retinal findings: retinitis pigmentosa and cone-rod dystrophy; stature: medium stature; abdominal ultrasound: liver, spleen, pancreas, bladder and prostate are normal, no fluid in abdomen or hip; cognitive impairment: absent; hearing: normal; smell: normal; digits: normal; transaminases: high alanine and aspartate aminotransferase; high blood pressure: no; dental anomalies: no; cardiac assessment: normal; pulmonary assessment: normal; diabetes mellitus: absent; seizures: absent; psychiatric assessment: normal; other: elevated levels of urea, creatinine and cholesterol
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-11-16 19:00:01 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD