Phenotype #0000309134
| Individual ID |
00417717 |
| Associated disease |
BBS |
| Phenotype details |
primary features: rod-cone dystrophy: present, early features; polydactyly in hands/feet: bilateral postaxial type a/bilateral mesoaxial; obesity (BMI): severe(36.3); intellectual disability: present; renal anomaly: absent; urogenital abnormality: not ascertained; secondary features: enlarged fatty liverpresent; physical disability; neuromotor problem: absent; speech disorder: absent; aggressive behaviour: present; dental anomalies: present; developmental delay: present; diabetes: not ascertained; ataxia/poor coordination: absent; syndactyly/brachydactyly: 2/3 toes syndactyly, right/absent; exotropia of right eye: present; shortness of breath: present; diverse symptoms: overriding sixth toe, left; hyperphagy; insomnia; low hairline, hypertensive |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Bardet-Biedl syndrome (BBS) |
| Age/Examination |
24y (24 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 |
2022-09-23 11:15:45 +02:00 (CEST) |
| Date last edited |
N/A |
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