Phenotype #0000304539

Individual ID	00412544
Associated disease	-
Phenotype details	occipitofrontal circumference: 51 cm; no microcephalic features ; height: 3 feet 10 inches; body mass index: 26.9 (obese); no involvement of environmental factors; behavioral expression: hyperactive; communication ability: normal; growth condition: normal; no epileptic shock; wide gait; no attention deficit; no muscle degeneration; no abnormal spine curvature; liver status (LFTs): abnormal (high ALT/SGPT & alk. phosphatase); kidney status (RFTs): normal; lipid profile: normal; normal facial morphology; no webbing of neck ; polydactyly: hexadactyly of both feet and hands; syndactyly: no; no dental anomalies; retinitis pigmentosa: no; eye sight: normal; no nystagmus; no color blindness; no strabismus; no deafness; no diabetes; normal digestive system functionality; normal cardiac status; normal renal status:
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	0m
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-06-30 13:40:52 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD