Global Variome shared LOVD

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Phenotype #0000309704 Individual ID 00418335 Associated disease BBS Phenotype details 5y: hospitalized for general deterioration related to terminal renal failure; obesity (body mass index: 22); cone-rod dystrophy: 5y; chronic renal failure: 5y; no polydactyly; hypogonadism/hypogenitalism: not determined; developmental delay; mild mental retardation and speech delay; conductive hearing loss/ recurrent otitis; since the age of 1 month, recurrent respiratory infection; respiratory failure: not determined; asthma: not determined Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome (BBS) Age/Examination - Age/Diagnosis - Age/Onset 6y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-28 12:32:58 +02:00 (CEST) Date last edited N/A

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