Global Variome shared LOVD

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Phenotype #0000278950 Individual ID 00385154 Associated disease - Phenotype details HP:0000510 Rod-cone dystrophy; HP:0010864 Intellectual disability, severe; HP:0000054 Micropenis; HP:0004691 2-3 toe syndactyly; HP:0000819 Diabetes mellitus; HP:0001344 Absent speech; HP:0001513 Obesity; HP:0000708 Behavioural abnormality; HP:0001250 Seizures; HP:0011003 Severe Myopia; Diagnosis/Initial Bardet-Biedl syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination 23y4m (23 years, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2021-10-08 17:29:22 +02:00 (CEST) Date last edited N/A

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