Phenotype #0000309985

Individual ID 00418686
Associated disease BBS
Phenotype details no retinitis pigmentosa; postaxial polydactyly feet only; no obesity; hypogonadism; cognitive impairment: mild; renal impairment: present; dental anomaly: absent; clinodactyly/brachydactyly: present
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Bardet-Biedl syndrome
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-10-04 12:10:24 +02:00 (CEST)
Date last edited N/A

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