UBR7
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/1 |
| Female | 100.0% | 1/1 |
| Indifferent | 0% | 0/1 |
| Unknown | 0% | 0/1 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 100.0% | 1/1 |
| < P3 : Small for gestational age | 100.0% | 1/1 |
| Birth Head circumference abnormalities | 0% | 0/1 |
| Current Height abnormalities | 0% | 0/1 |
| Current Weight abnormalities | 0% | 0/1 |
| Current Head circumference abnormalities | 0% | 0/1 |
| Neurology | ||
| Behavioral problems | 100.0% | 1/1 |
| Attention deficit hyperactivity disorder | 100.0% | 1/1 |
| Stereotypic behavior | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Arnold-Chiari type I malformation | 100.0% | 1/1 |
| Cerebral venous angioma | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 1/1 |
| Darwin tubercle of helix | 100.0% | 1/1 |
| Abnormality of the eye | 100.0% | 1/1 |
| Ptosis | 100.0% | 1/1 |
| Abnormality of the nose | 100.0% | 1/1 |
| Convex nasal ridge | 100.0% | 1/1 |
| Deviated nasal tip | 100.0% | 1/1 |
| Abnormality of the mouth | 100.0% | 1/1 |
| Broad chin | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 1/1 |
| Genu recurvatum | 100.0% | 1/1 |
| Joint laxity | 100.0% | 1/1 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 1/1 |
| Hypertrichosis | 100.0% | 1/1 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Hypothyroidism | 100.0% | 1/1 |