PPP3CA
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 1/2 |
| Female | 50.0% | 1/2 |
| Indifferent | 0% | 0/2 |
| Unknown | 0% | 0/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/2 |
| Birth Weight abnormalities | 0% | 0/2 |
| Birth Head circumference abnormalities | 0% | 0/2 |
| Current Height abnormalities | 0% | 0/2 |
| Current Weight abnormalities | 0% | 0/2 |
| Current Head circumference abnormalities | 0% | 0/2 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 2/2 |
| Delayed gross motor development | 50.0% | 1/2 |
| Expressive language delay | 50.0% | 1/2 |
| Generalized hypotonia | 50.0% | 1/2 |
| Intellectual disability, moderate | 50.0% | 1/2 |
| Intellectual disability, profound | 50.0% | 1/2 |
| Seizures | 50.0% | 1/2 |
| Behavioral problems | 50.0% | 1/2 |
| Autistic behavior | 50.0% | 1/2 |
| Obsessive-compulsive trait | 50.0% | 1/2 |
| Stereotypic behavior | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the eye | 50.0% | 1/2 |
| Broad eyebrow | 50.0% | 1/2 |
| Long eyelashes | 50.0% | 1/2 |
| Synophrys | 50.0% | 1/2 |
| Abnormality of the mouth | 50.0% | 1/2 |
| High palate | 50.0% | 1/2 |
| Misalignment of teeth | 50.0% | 1/2 |
| Narrow palate | 50.0% | 1/2 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 1/2 |
| Tall stature | 50.0% | 1/2 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 50.0% | 1/2 |
| Decreased circulating cortisol level | 50.0% | 1/2 |