Phenotype #0000155597
| Individual ID |
00207813 |
| Associated disease |
BBS |
| Phenotype details |
best corrected visual acuity right, left eye (14y): 20/400, 20/600; anterior segment: normal; retinal exam (15y): macular atrophy, vessel attenuation, bone spicules; electroretinogram amplitude (1y): severe rod-cone dystrophy; neurological findings (13y): absent seizures, autism, normal brain magnetic resonance imaging, head circumference: 57 cm; kidney (age 13y): normal structure and function; liver (age 13y): fatty infiltration, normal transaminases; lipidsa (age 13y) cholesterol 6.4 mmol/l (elevated); triglyceride: 8.63 mmol/L (elevated); heart: situs solitus, levocardia; spleen: mild splenomegaly; digits: postaxial polydactyly in 3 limbs; weight: BMI 38.9; menarche: 13y; development: delayed; other: recurrent ear infections, strabism |
| Diagnosis/Initial |
Bardet-Biedl syndrome |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
BBS-1 |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
anna_tracewska |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2018-12-01 16:02:48 +01:00 (CET) |
| Date last edited |
2022-06-29 11:29:06 +02:00 (CEST) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
