Phenotype #0000304593

Individual ID 00412601
Associated disease BBS
Phenotype details delayed development and obesity; 2y: hypogonadism with micropenis and bilateral cryptorchidism; 3y: retinitis pigmentosa; 13y weight: 111 kg (>+3SD) for 157 cm (+0.5SD), orthopedic and respiratory complications; X-rays of the skeleton: postaxial polydactyly of the hand and the preaxial polydactyly of the feet with duplication of the metatarsus and the phalanges without other abnormality; brain magnetic resonance imaging, abdominal ultrasound, and biological renal, hepatic and pancreatic functions: normal
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Bardet-Biedl syndrome
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset 0m
Phenotype/Onset postaxial polydactyly of the right hand and bilateral preaxial polydactyly of the feet
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-01 18:28:31 +02:00 (CEST)
Date last edited N/A

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