Phenotype #0000304488

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00412486
Associated disease	-
Phenotype details	sensorineural features: retinal dystrophy; abnormalities of the hands and feet: postaxial polydactyly; obesity; no intellectual disability; no learning difficulty; no speech delay; no slow ideation; no motor development delay; urogenital anomalies
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-06-29 13:33:34 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.