Phenotype #0000312159
| Individual ID |
00420912 |
| Associated disease |
BBS |
| Phenotype details |
5y: mild intellectual disability, with delays in gross and fine motor, and cognitive domains; no other family members with retinal disease; anthropometric measurements: relative macrocephaly and central obesity with increased abdominal circumference for age; brachydactyly, postaxial polydactyly and clinodactyly of fifth digit; broad feet with post-axial polydactyly; best corrected visual acuity and refraction right, left eye: 20/100 with -5.50 sph, 20/70 with -5.00 sph; 15 prism diopter exotropia on alternate prism cover test; slit-lamp examination and intraocular pressures: normal; indirect ophthalmoscopy: findings compatible with a retinal dystrophy; macular optical coherence tomography: generalized macular thinning for both eyes; electroretinography: generalized cone and rod dysfunction; lipid profile: dyslipidemia; transrectal, kidney and urinary bladder ultrasonography: non-pathologic |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Bardet-Biedl syndrome |
| Age/Examination |
14y (14 years) |
| Age/Diagnosis |
- |
| Age/Onset |
5y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-11-03 11:14:50 +01:00 (CET) |
| Date last edited |
N/A |
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