| Individual ID |
00412545 |
| Associated disease |
- |
| Phenotype details |
occipitofrontal circumference: 52 cm; no microcephalic features ; height: 5 feet; body mass index: 27.9 (over weight); no involvement of environmental factors; behavioral expression: lethargic; communication ability: nil; growth condition: weak; no epileptic shock; wide gait; attention deficit; no muscle degeneration; no abnormal spine curvature; liver status (LFTs): abnormal (high ALT/SGPT & alk. phosphatase); kidney status (RFTs): boarder-line; lipid profile: normal; normal facial morphology; no webbing of neck ; polydactyly: hexadactyly of feet, hexa-dactyly of right hand, syn-hepta- dactyly of left hand; syndactyly: yes; no dental anomalies; retinitis pigmentosa: yes; eye sight: weak; nystagmus; no color blindness; no strabismus; no deafness; no diabetes; normal digestive system functionality; normal cardiac status; normal renal status |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Bardet-Biedl syndrome |
| Age/Examination |
24y (24 years) |
| Age/Diagnosis |
- |
| Age/Onset |
00y00m |
| Phenotype/Onset |
- |
| Protein |
anna_tracewska |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-06-30 13:40:52 +02:00 (CEST) |
| Date last edited |
2022-06-30 13:43:13 +02:00 (CEST) |
