EHMT1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 31.8% | 7/22 |
| Female | 68.2% | 15/22 |
| Indifferent | 0% | 0/22 |
| Unknown | 0% | 0/22 |
| General | ||
| Birth Length abnormalities | 0% | 0/5 |
| Birth Weight abnormalities | 10.5% | 2/19 |
| > P98 : Large for gestational age | 10.5% | 2/19 |
| Birth Head circumference abnormalities | 20.0% | 1/5 |
| < P3 : Primary microcephaly | 20.0% | 1/5 |
| Current Height abnormalities | 15.0% | 3/20 |
| < P3 : Short stature | 15.0% | 3/20 |
| Current Weight abnormalities | 35.3% | 6/17 |
| > P98 : Increased body weight | 35.3% | 6/17 |
| Current Head circumference abnormalities | 40.0% | 8/20 |
| < P3 : Microcephaly | 40.0% | 8/20 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 22/22 |
| Hypotonia | 86.4% | 19/22 |
| Seizure | 22.7% | 5/22 |
| Absent speech | 4.5% | 1/22 |
| Generalized hypotonia | 4.5% | 1/22 |
| Global developmental delay | 4.5% | 1/22 |
| Inability to walk | 4.5% | 1/22 |
| Moderate intellectual disability | 4.5% | 1/22 |
| Neurodevelopmental delay | 4.5% | 1/22 |
| Behavioral problems | 77.3% | 17/22 |
| Atypical behavior | 72.7% | 16/22 |
| Apathy | 9.1% | 2/22 |
| Aggressive behavior | 4.5% | 1/22 |
| Anxiety | 4.5% | 1/22 |
| Autism | 4.5% | 1/22 |
| Compulsive behaviors | 4.5% | 1/22 |
| Short attention span | 4.5% | 1/22 |
| Sleep disturbance | 4.5% | 1/22 |
| Brain abnormality | 57.9% | 11/19 |
| Abnormal brain morphology | 42.1% | 8/19 |
| Abnormal cerebral white matter morphology | 10.5% | 2/19 |
| Ventriculomegaly | 5.3% | 1/19 |
| Facial abnormalities | ||
| Abnormality of the ear | 9.1% | 2/22 |
| Overfolding of the superior helices | 4.5% | 1/22 |
| Thickened helices | 4.5% | 1/22 |
| Abnormality of the eye | 100.0% | 22/22 |
| Synophrys | 95.5% | 21/22 |
| Abnormal eyebrow morphology | 86.4% | 19/22 |
| Anteverted nares | 4.5% | 1/22 |
| Coloboma | 4.5% | 1/22 |
| Long eyelashes | 4.5% | 1/22 |
| Strabismus | 4.5% | 1/22 |
| Abnormality of the nose | 9.1% | 2/22 |
| Depressed nasal ridge | 4.5% | 1/22 |
| Short nose | 4.5% | 1/22 |
| Abnormality of the mouth | 100.0% | 22/22 |
| Exaggerated cupid's bow | 95.5% | 21/22 |
| Everted lower lip vermilion | 90.9% | 20/22 |
| Protruding tongue | 90.9% | 20/22 |
| High palate | 4.5% | 1/22 |
| Mandibular prognathia | 4.5% | 1/22 |
| Thick lower lip vermilion | 4.5% | 1/22 |
| Tooth malposition | 4.5% | 1/22 |
| Visual and hearing impairments | ||
| Abnormal hearing | 31.8% | 7/22 |
| Hearing impairment | 31.8% | 7/22 |
| Abnormal vision | 4.5% | 1/22 |
| Hypermetropia | 4.5% | 1/22 |
| Heart | ||
| Abnormality of the heart | 31.8% | 7/22 |
| Abnormal heart morphology | 22.7% | 5/22 |
| Atrial flutter | 4.5% | 1/22 |
| Left ventricular hypertrophy | 4.5% | 1/22 |
| Supraventricular arrhythmia | 4.5% | 1/22 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 40.9% | 9/22 |
| Gastroesophageal reflux | 31.8% | 7/22 |
| Anal atresia | 4.5% | 1/22 |
| Constipation | 4.5% | 1/22 |
| Urogenital | ||
| Abnormality of the urogenital system | 18.2% | 4/22 |
| Abnormal reproductive system morphology | 9.1% | 2/22 |
| Hydronephrosis | 4.5% | 1/22 |
| Vesicoureteral reflux | 4.5% | 1/22 |
| Skeleton | ||
| Skeletal abnormalities | 22.7% | 5/22 |
| Abnormality of the skeletal system | 18.2% | 4/22 |
| Joint hypermobility | 4.5% | 1/22 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 4.5% | 1/22 |
| Abnormality of the dentition | 4.5% | 1/22 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 9.1% | 2/22 |
| Precocious puberty | 9.1% | 2/22 |
| Abnormality of the immune system | 9.1% | 2/22 |
| Recurrent infections | 9.1% | 2/22 |