EHMT1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 35.0% | 7/20 |
| Female | 65.0% | 13/20 |
| Indifferent | 0% | 0/20 |
| Unknown | 0% | 0/20 |
| General | ||
| Birth Length abnormalities | 0% | 0/3 |
| Birth Weight abnormalities | 11.8% | 2/17 |
| > P98 : Large for gestational age | 11.8% | 2/17 |
| Birth Head circumference abnormalities | 0% | 0/3 |
| Current Height abnormalities | 16.7% | 3/18 |
| < P3 : Short stature | 16.7% | 3/18 |
| Current Weight abnormalities | 33.3% | 5/15 |
| > P98 : Increased body weight | 33.3% | 5/15 |
| Current Head circumference abnormalities | 38.9% | 7/18 |
| < P3 : Microcephaly | 38.9% | 7/18 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 20/20 |
| Muscular hypotonia | 95.0% | 19/20 |
| Seizures | 25.0% | 5/20 |
| Inability to walk | 5.0% | 1/20 |
| Neurodevelopmental delay | 5.0% | 1/20 |
| Behavioral problems | 80.0% | 16/20 |
| Behavioral abnormality | 75.0% | 15/20 |
| Apathy | 10.0% | 2/20 |
| Anxiety | 5.0% | 1/20 |
| Autism | 5.0% | 1/20 |
| Short attention span | 5.0% | 1/20 |
| Sleep disturbance | 5.0% | 1/20 |
| Brain abnormality | 52.9% | 9/17 |
| Abnormality of brain morphology | 47.1% | 8/17 |
| Abnormality of the cerebral white matter | 5.9% | 1/17 |
| Facial abnormalities | ||
| Abnormality of the ear | 5.0% | 1/20 |
| Thickened helices | 5.0% | 1/20 |
| Abnormality of the eye | 100.0% | 20/20 |
| Abnormality of the eyebrow | 95.0% | 19/20 |
| Synophrys | 95.0% | 19/20 |
| Anteverted nares | 5.0% | 1/20 |
| Coloboma | 5.0% | 1/20 |
| Strabismus | 5.0% | 1/20 |
| Abnormality of the nose | 5.0% | 1/20 |
| Short nose | 5.0% | 1/20 |
| Abnormality of the mouth | 100.0% | 20/20 |
| Exaggerated cupid's bow | 100.0% | 20/20 |
| Protruding tongue | 100.0% | 20/20 |
| Everted lower lip vermilion | 95.0% | 19/20 |
| Visual and hearing impairments | ||
| Abnormal hearing | 35.0% | 7/20 |
| Hearing impairment | 35.0% | 7/20 |
| Abnormal vision | 5.0% | 1/20 |
| Hypermetropia | 5.0% | 1/20 |
| Heart | ||
| Abnormality of the heart | 30.0% | 6/20 |
| Abnormal heart morphology | 25.0% | 5/20 |
| Atrial flutter | 5.0% | 1/20 |
| Left ventricular hypertrophy | 5.0% | 1/20 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 40.0% | 8/20 |
| Gastroesophageal reflux | 35.0% | 7/20 |
| Anal atresia | 5.0% | 1/20 |
| Urogenital | ||
| Abnormality of the urogenital system | 20.0% | 4/20 |
| Abnormal genital system morphology | 10.0% | 2/20 |
| Hydronephrosis | 5.0% | 1/20 |
| Vesicoureteral reflux | 5.0% | 1/20 |
| Skeleton | ||
| Skeletal abnormalities | 25.0% | 5/20 |
| Abnormality of the skeletal system | 20.0% | 4/20 |
| Joint hypermobility | 5.0% | 1/20 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 5.0% | 1/20 |
| Abnormality of the teeth | 5.0% | 1/20 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 10.0% | 2/20 |
| Precocious puberty | 10.0% | 2/20 |
| Abnormality of the immune system | 10.0% | 2/20 |
| Recurrent infections | 10.0% | 2/20 |