Phenotype #0000312160
| Individual ID |
00420913 |
| Associated disease |
BBS |
| Phenotype details |
7y: 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; sixth digit of the left hand surgically removed; broad feet with post-axial polydactyly; ocular examinations: best corrected visual acuity and refraction right, left eye: 20/200 with -0.5 sph -1.50 x 180, 16/200 with plano -1.5 x 180; 12 prism diopter exotropia by modified krimsky; 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 |
11y (11 years) |
| Age/Diagnosis |
- |
| Age/Onset |
7y |
| 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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