TRMT1
| 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 | 0% | 0/1 |
| Birth Head circumference abnormalities | 100.0% | 1/1 |
| < P3 : Congenital microcephaly | 100.0% | 1/1 |
| Current Height abnormalities | 100.0% | 1/1 |
| < P3 : Short stature | 100.0% | 1/1 |
| Current Weight abnormalities | 100.0% | 1/1 |
| < P3 : Decreased body weight | 100.0% | 1/1 |
| Current Head circumference abnormalities | 100.0% | 1/1 |
| < P3 : Microcephaly | 100.0% | 1/1 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 1/1 |
| Epileptic spasms | 100.0% | 1/1 |
| Generalized hypotonia | 100.0% | 1/1 |
| Generalized hyperreflexia | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Abnormality of thalamus morphology | 100.0% | 1/1 |
| Abnormality of lateral ventricle | 100.0% | 1/1 |
| Aplasia/Hypoplasia of the corpus callosum | 100.0% | 1/1 |
| Lobar holoprosencephaly | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 1/1 |
| Protruding ear | 100.0% | 1/1 |
| Abnormality of the eye | 100.0% | 1/1 |
| Hypotelorism | 100.0% | 1/1 |
| Medial flaring of the eyebrow | 100.0% | 1/1 |
| Abnormality of the nose | 100.0% | 1/1 |
| Anteverted nares | 100.0% | 1/1 |
| Abnormality of the mouth | 100.0% | 1/1 |
| High palate | 100.0% | 1/1 |
| Single median maxillary incisor | 100.0% | 1/1 |
| Smooth philtrum | 100.0% | 1/1 |
| Thin upper lip vermilion | 100.0% | 1/1 |
| Heart | ||
| Abnormality of the heart | 100.0% | 1/1 |
| Patent foramen ovale | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 1/1 |
| Generalized joint laxity | 100.0% | 1/1 |
| Long fingers | 100.0% | 1/1 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Central diabetes insipidus | 100.0% | 1/1 |