UNC45A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 1/2 |
| Female | 50.0% | 1/2 |
| Indifferent | 0% | 0/2 |
| Unknown | 0% | 0/2 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 2/2 |
| Global developmental delay | 100.0% | 2/2 |
| Intellectual disability | 50.0% | 1/2 |
| Behavioral problems | 50.0% | 1/2 |
| Abnormal aggressive, impulsive or violent behavior | 50.0% | 1/2 |
| Agitation | 50.0% | 1/2 |
| Brain abnormality | 50.0% | 1/2 |
| Asymmetric radial dysplasia | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the ear | 50.0% | 1/2 |
| External ear malformation | 50.0% | 1/2 |
| Profound hearing impairment | 50.0% | 1/2 |
| Abnormality of the eye | 50.0% | 1/2 |
| Anterior pyramidal cataract | 50.0% | 1/2 |
| Congenital blindness | 50.0% | 1/2 |
| Microphthalmia | 50.0% | 1/2 |
| Peters anomaly | 50.0% | 1/2 |
| Visual and hearing impairments | ||
| Abnormal hearing | 100.0% | 2/2 |
| Profound hearing impairment | 50.0% | 1/2 |
| Severe hearing impairment | 50.0% | 1/2 |
| Abnormal vision | 100.0% | 1/1 |
| Congenital blindness | 100.0% | 1/1 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 2/2 |
| Villous atrophy | 100.0% | 2/2 |
| Cholestasis | 50.0% | 1/2 |
| Chronic diarrhea | 50.0% | 1/2 |
| Cow milk allergy | 50.0% | 1/2 |
| Gastroesophageal reflux | 50.0% | 1/2 |
| Hepatomegaly | 50.0% | 1/2 |
| Intermittent diarrhea | 50.0% | 1/2 |
| Pruritus | 50.0% | 1/2 |