Table 1 Comparison of phenotypes of reported patients with BBS10 gene mutations and our patient
Reported cases | Our case | |
|---|---|---|
Primary features | ||
Pigmentary degeneration of the retina | + | − |
Polydactyly | + | + |
Obesity | + | + |
Learning problems | + | + |
Hypogonadism | + | − |
Renal dysfunction | + | + |
Secondary features | ||
Liver fibrosis | + | − |
Diabetes mellitus | + | − |
Neuro-motor problem | NA | − |
Speech deficits | NA | + |
Behavioral problem | NA | + |
Facial dysmorphism | + | + |
Dental irregularities | NA | + |
Developmental delay | + | + |
Hypertension | NA | − |
Cardiac problem | NA | − |
Hearing loss | + | − |
Anosmia/hyposmia | + | − |
Respiratory problem | + | − |
Hypothyroidism | NA | − |
Atopy | NA | − |
Syndactyly | NA | − |
