Phenotype #0000309016

Individual ID	00417536
Associated disease	BBS
Phenotype details	the only child of an unrelated couple without personal or familial medical history; born at 39 weeks of gestation; weight: 3210 g, height: 51 cm; head circumference: 35 cm; mesoaxial polydactyly of the right hand with a Y-shaped metacarpian and syndactyly between the 5th and the 6th fingers and postaxial polydactyly of the right foot noticed at birth; partial atrioventricular septal defect diagnosed and operated at 5 weeks old; mitral insufficiency persisted after operation and was operated at 2 years old; renal ultrasound: normal; cerebral ultrasound at birth: isolated thin corpus callosum, not confirmed on cerebral magnetic resonance imaging; delayed psychomotor development: walked at 25-month-old; delayed language (5 words at 2 years; 10 words at 3 years, sentences at 5 years; audition: normal; specialized education; progressively developed obesity: at 2 years old, 16.8 kg (+ 3SD) for 93 cm (+ 2SD) and normal head circumference (49 cm); at 3 years old, 22.9 kg (> +3SD) for 101.5 cm (+ 2SD); 7y BMI: 25; ophthalmologic examination 2y: myopia ; 3y: alternate divergent strabismus; scalable myopia noticed at 4y; 7y: cone-rod dystrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome (BBS)
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	0m
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-19 12:25:32 +02:00 (CEST)
Date last edited	N/A