EHMT1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 31.6% | 6/19 |
| Female | 68.4% | 13/19 |
| Indifferent | 0% | 0/19 |
| Unknown | 0% | 0/19 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 19/19 |
| Muscular hypotonia | 100.0% | 19/19 |
| Seizures | 26.3% | 5/19 |
| Inability to walk | 5.3% | 1/19 |
| Behavioral problems | 78.9% | 15/19 |
| Behavioral abnormality | 78.9% | 15/19 |
| Apathy | 5.3% | 1/19 |
| Sleep disturbance | 5.3% | 1/19 |
| Brain abnormality | 56.3% | 9/16 |
| Abnormality of brain morphology | 50.0% | 8/16 |
| Abnormality of the cerebral white matter | 6.3% | 1/16 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 19/19 |
| Abnormality of the eyebrow | 100.0% | 19/19 |
| Synophrys | 100.0% | 19/19 |
| Coloboma | 5.3% | 1/19 |
| Strabismus | 5.3% | 1/19 |
| Abnormality of the mouth | 100.0% | 19/19 |
| Everted lower lip vermilion | 100.0% | 19/19 |
| Exaggerated cupid's bow | 100.0% | 19/19 |
| Protruding tongue | 100.0% | 19/19 |
| Visual and hearing impairments | ||
| Abnormal hearing | 36.8% | 7/19 |
| Hearing impairment | 36.8% | 7/19 |
| Heart | ||
| Abnormality of the heart | 31.6% | 6/19 |
| Abnormal heart morphology | 26.3% | 5/19 |
| Atrial flutter | 5.3% | 1/19 |
| Left ventricular hypertrophy | 5.3% | 1/19 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 42.1% | 8/19 |
| Gastroesophageal reflux | 36.8% | 7/19 |
| Anal atresia | 5.3% | 1/19 |
| Urogenital | ||
| Abnormality of the urogenital system | 21.1% | 4/19 |
| Abnormal genital system morphology | 10.5% | 2/19 |
| Hydronephrosis | 5.3% | 1/19 |
| Vesicoureteral reflux | 5.3% | 1/19 |
| Skeleton | ||
| Skeletal abnormalities | 26.3% | 5/19 |
| Abnormality of the skeletal system | 21.1% | 4/19 |
| Joint hypermobility | 5.3% | 1/19 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 5.3% | 1/19 |
| Abnormality of the teeth | 5.3% | 1/19 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 10.5% | 2/19 |
| Precocious puberty | 10.5% | 2/19 |
| Abnormality of the immune system | 10.5% | 2/19 |
| Recurrent infections | 10.5% | 2/19 |