Global Variome shared LOVD

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Phenotype #0000304489 Individual ID 00412487 Associated disease - Phenotype details sensorineural features: retinal dystrophy; abnormalities of the hands and feet: postaxial polydactyly: hands, feet; obesity; moderate intellectual disability; learning difficulty; severe speech delay; slow ideation; motor development delay; micropenis; no cryptorchidism; ptosis right kidney; other clinical features: right pes cavus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Bardet-Biedl syndrome Age/Examination - 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 2022-06-29 13:33:34 +02:00 (CEST) Date last edited N/A

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