Phenotype #0000312083

Individual ID	00420836
Associated disease	BBS
Phenotype details	voracious appetite, noisy breathing and snoring; excessive weight gain and weak cry from 4 months of age; mild developmental delay; caesarean section, birth weight 3500 g, smooth perinatal transition; 11m: vitals stable, weight: 15kg ( +4.4z-score), length: 77 cm (+0.56z-score), body mass index: 24.8 (+5.03z-score) head circumference: 48 cm (+1.52 z-score); craniofacial dysmorphism in the form of brachycephaly, wide and deep set eyes, long smooth philtrum, depressed nasal bridge micrognathia, retrognathia, stubby built, bilateral epicanthic folds, polydactyly in both hands, syndactyly of third and fourth fingers in right hand, hepatomegaly, short systolic murmer, short penis with testicular volume of 2 cc; dysphonia; bronchoscopy: bifid epiglottis, laryngeal web and membrane between vocal cords and small glottis chink; ultrasonography of abdomen: enlarged kidneys
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome (BBS)
Age/Examination	11m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-11-02 19:01:45 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD