CTNNB1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 55.6% | 5/9 |
| Female | 44.4% | 4/9 |
| Indifferent | 0% | 0/9 |
| Unknown | 0% | 0/9 |
| General | ||
| Birth Length abnormalities | 0% | 0/9 |
| Birth Weight abnormalities | 0% | 0/9 |
| Birth Head circumference abnormalities | 11.1% | 1/9 |
| < P3 : Primary microcephaly | 11.1% | 1/9 |
| Current Height abnormalities | 11.1% | 1/9 |
| < P3 : Short stature | 11.1% | 1/9 |
| Current Weight abnormalities | 33.3% | 3/9 |
| < P3 : Decreased body weight | 33.3% | 3/9 |
| Current Head circumference abnormalities | 77.8% | 7/9 |
| < P3 : Microcephaly | 77.8% | 7/9 |
| Neurology | ||
| Neurological abnormalities | 88.9% | 8/9 |
| Lower limb spasticity | 55.6% | 5/9 |
| Dystonia | 44.4% | 4/9 |
| Axial hypotonia | 22.2% | 2/9 |
| obsolete Infantile axial hypotonia | 22.2% | 2/9 |
| Spasticity | 22.2% | 2/9 |
| Bradykinesia | 11.1% | 1/9 |
| Limb dystonia | 11.1% | 1/9 |
| obsolete Central hypotonia | 11.1% | 1/9 |
| Facial abnormalities | ||
| Abnormality of the eye | 80.0% | 4/5 |
| Strabismus | 60.0% | 3/5 |
| obsolete Exudative retinopathy | 40.0% | 2/5 |
| Monocular strabismus | 20.0% | 1/5 |
| Thin upper lip vermilion | 20.0% | 1/5 |
| Abnormality of the nose | 71.4% | 5/7 |
| Underdeveloped nasal alae | 71.4% | 5/7 |
| Bulbous nose | 42.9% | 3/7 |
| Abnormality of the mouth | 62.5% | 5/8 |
| Thin upper lip vermilion | 62.5% | 5/8 |
| Long philtrum | 37.5% | 3/8 |
| Smooth philtrum | 25.0% | 2/8 |
| Visual and hearing impairments | ||
| Abnormal hearing | 11.1% | 1/9 |
| Unilateral deafness | 11.1% | 1/9 |
| Abnormal vision | 83.3% | 5/6 |
| Strabismus | 50.0% | 3/6 |
| obsolete Exudative retinopathy | 33.3% | 2/6 |
| Astigmatism | 16.7% | 1/6 |
| Cataract | 16.7% | 1/6 |
| Hypermetropia | 16.7% | 1/6 |
| Monocular strabismus | 16.7% | 1/6 |
| Skeleton | ||
| Skeletal abnormalities | 11.1% | 1/9 |
| Craniosynostosis | 11.1% | 1/9 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 4/8 |
| obsolete Sparse and thin eyebrow | 25.0% | 2/8 |
| Sparse scalp hair | 25.0% | 2/8 |
| Fair hair | 12.5% | 1/8 |
| Thick eyebrow | 12.5% | 1/8 |
| Widow's peak | 12.5% | 1/8 |