Phenotype #0000309240

Individual ID 00417873
Associated disease BBS
Phenotype details weight, kg/height, m: 72.5/1.49; pressure, mmHg: 140/100; major bbs phenotypes: retinitis pigmentosa: yes; obesity (bmi, kg/m2): yes (33); renal anomalies: right renal cyst; polydactyly: yes; learning/comprehension: delay; hypogonadism: yes; minor features: speech development: delay; motor skill: normal; strabismus: yes; dental architechure: normal; behavior: normal; development delay: mild; brachydactyly: yes; short neck, low nose bridge: yes; diabetes mellitus: no; heart problems: no; hearing loss: no; menstruation in female: na; nystagmus: no; cataract: no; micropenis: yes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Bardet-Biedl syndrome (BBS)
Age/Examination 37y (37 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 2022-09-27 14:36:44 +02:00 (CEST)
Date last edited N/A

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