Phenotype #0000309130

Individual ID	00417713
Associated disease	BBS
Phenotype details	primary features: rod-cone dystrophy: present, retinitis pigmentosa early features; polydactyly in hands/feet: bilateral postaxial type a/bilateral postaxial type a; obesity (BMI): absent (20); intellectual disability: severe; renal anomaly: parenchymal disease; urogenital abnormality: not ascertained; secondary features: enlarged fatty liverabsent; physical disability; neuromotor problem: severe, walks with support; speech disorder: present; aggressive behaviour: absent; dental anomalies: present; developmental delay: severe; diabetes: absent; ataxia/poor coordination: absent; syndactyly/brachydactyly: absent/absent; exotropia of right eye: absent; shortness of breath: present; diverse symptoms: sparse hair; enuresis; enlarged head; frontal bossing
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome (BBS)
Age/Examination	25y (25 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-23 11:15:45 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD