Phenotype #0000309131

Individual ID	00417714
Associated disease	BBS
Phenotype details	primary features: rod-cone dystrophy: present, optic nerve atrophy; polydactyly in hands/feet: bilateral postaxial type b/bilateral postaxial type a; obesity (BMI): overweight (27.0); intellectual disability: severe; renal anomaly: absent; urogenital abnormality: not ascertained; secondary features: enlarged fatty liverpresent; physical disability; neuromotor problem: absent; speech disorder: present; aggressive behaviour: absent; dental anomalies: present; developmental delay: severe; diabetes: not ascertained; ataxia/poor coordination: absent; syndactyly/brachydactyly: absent/absent; exotropia of right eye: present; shortness of breath: present; diverse symptoms: absent
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome (BBS)
Age/Examination	22y (22 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