HEATR5B
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 3/3 |
| Female | 0% | 0/3 |
| Indifferent | 0% | 0/3 |
| Unknown | 0% | 0/3 |
| General | ||
| Birth Length abnormalities | 0% | 0/3 |
| Birth Weight abnormalities | 0% | 0/3 |
| Birth Head circumference abnormalities | 0% | 0/3 |
| Current Height abnormalities | 0% | 0/3 |
| Current Weight abnormalities | 0% | 0/3 |
| Current Head circumference abnormalities | 0% | 0/3 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 3/3 |
| Abnormality of vision | 100.0% | 3/3 |
| Dysphagia | 100.0% | 3/3 |
| Infantile axial hypotonia | 100.0% | 3/3 |
| Nystagmus | 100.0% | 3/3 |
| Seizures | 100.0% | 3/3 |
| Apnea | 33.3% | 1/3 |
| Behavioral problems | 100.0% | 3/3 |
| Delayed speech and language development | 100.0% | 3/3 |
| Motor delay | 100.0% | 3/3 |
| No social interaction | 100.0% | 3/3 |
| Brain abnormality | 100.0% | 3/3 |
| Cerebral white matter hypoplasia | 100.0% | 3/3 |
| Cerebral cortical atrophy | 100.0% | 3/3 |
| Hypoplasia of the corpus callosum | 100.0% | 3/3 |
| Pontocerebellar atrophy | 100.0% | 3/3 |
| Ventriculomegaly | 100.0% | 3/3 |
| Facial abnormalities | ||
| Abnormality of the eye | 33.3% | 1/3 |
| Microphthalmia | 33.3% | 1/3 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 3/3 |
| Abnormality of vision | 100.0% | 3/3 |
| Pulmonary | ||
| Abnormality of the lungs | 100.0% | 3/3 |
| Recurrent aspiration pneumonia | 100.0% | 3/3 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 33.3% | 1/3 |
| Aganglionic megacolon | 33.3% | 1/3 |