Phenotype #0000309215
| Individual ID |
00417847 |
| Associated disease |
BBS |
| Phenotype details |
whole cohort description: most frequent manifestations: polydactyly, obesity, visual disturbance, cognitive impairment; male hypogonadism (>90% of patients); visual disturbance - early onset in most of this cohort with functional visual disability both at night and in the day present by 8y in the large majority; all older patients examined legally blind by mid-adolescence; developmental delay/cognitive impairment: whole cohort (more severe than described in more heterogeneous cohorts, where intellectual disability occurs in about two-thirds of cases and is usually mild in up to 77% of cases); type A postaxial polydactyly present in at least three limbs, suggesting a high penetrance for digital abnormalities with this mutation |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Bardet-Biedl syndrome (BBS) |
| Age/Examination |
15y (15 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-09-26 14:05:51 +02:00 (CEST) |
| Date last edited |
N/A |
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