KMT2B
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 46.4% | 13/28 |
| Female | 53.6% | 15/28 |
| Indifferent | 0% | 0/28 |
| Unknown | 0% | 0/28 |
| General | ||
| Birth Length abnormalities | 0% | 0/9 |
| Birth Weight abnormalities | 0% | 0/9 |
| Birth Head circumference abnormalities | 0% | 0/9 |
| Current Height abnormalities | 35.7% | 5/14 |
| < P3 : Short stature | 35.7% | 5/14 |
| Current Weight abnormalities | 0% | 0/11 |
| Current Head circumference abnormalities | 18.2% | 2/11 |
| < P3 : Microcephaly | 18.2% | 2/11 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 28/28 |
| Generalized dystonia | 96.4% | 27/28 |
| Absence seizures | 3.6% | 1/28 |
| Craniofacial dystonia | 3.6% | 1/28 |
| Increased intracranial pressure | 3.6% | 1/28 |
| Lower limb spasticity | 3.6% | 1/28 |
| Retrocollis | 3.6% | 1/28 |
| Seizures | 3.6% | 1/28 |
| Behavioral problems | 19.2% | 5/26 |
| Attention deficit hyperactivity disorder | 11.5% | 3/26 |
| Anxiety | 7.7% | 2/26 |
| Depression | 3.8% | 1/26 |
| Obsessive-compulsive trait | 3.8% | 1/26 |
| Self-injurious behavior | 3.8% | 1/26 |
| Facial abnormalities | ||
| Abnormality of the ear | 7.4% | 2/27 |
| Low-set ears | 3.7% | 1/27 |
| Low-set, posteriorly rotated ears | 3.7% | 1/27 |
| Abnormality of the eye | 11.1% | 3/27 |
| Absent eyelashes | 3.7% | 1/27 |
| Blepharophimosis | 3.7% | 1/27 |
| Epicanthus | 3.7% | 1/27 |
| Hypertelorism | 3.7% | 1/27 |
| Periorbital fullness | 3.7% | 1/27 |
| Prominent epicanthal folds | 3.7% | 1/27 |
| Upslanted palpebral fissure | 3.7% | 1/27 |
| Abnormality of the nose | 51.9% | 14/27 |
| Bulbous nose | 48.1% | 13/27 |
| Narrow nasal bridge | 3.7% | 1/27 |
| Short nasal bridge | 3.7% | 1/27 |
| Wide nasal bridge | 3.7% | 1/27 |
| Abnormality of the mouth | 17.9% | 5/28 |
| Abnormality of the teeth | 3.6% | 1/28 |
| Abnormality of mouth size | 3.6% | 1/28 |
| Bifid tongue | 3.6% | 1/28 |
| Broad philtrum | 3.6% | 1/28 |
| Cleft palate | 3.6% | 1/28 |
| Tongue atrophy | 3.6% | 1/28 |
| Widely spaced teeth | 3.6% | 1/28 |
| Visual and hearing impairments | ||
| Abnormal vision | 19.2% | 5/26 |
| Strabismus | 7.7% | 2/26 |
| Abnormality of saccadic eye movements | 3.8% | 1/26 |
| Oculomotor apraxia | 3.8% | 1/26 |
| Retinal dystrophy | 3.8% | 1/26 |
| Urogenital | ||
| Abnormality of the urogenital system | 11.5% | 3/26 |
| Abnormality of the testis | 3.8% | 1/26 |
| Abnormality of the kidney | 3.8% | 1/26 |
| Phimosis | 3.8% | 1/26 |
| Skeleton | ||
| Skeletal abnormalities | 11.5% | 3/26 |
| Clinodactyly of the 5th finger | 7.7% | 2/26 |
| Clinodactyly | 3.8% | 1/26 |
| Contracture of proximal interphalangeal joints of 2nd-5th fingers | 3.8% | 1/26 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 19.2% | 5/26 |
| Abnormality of the toenails | 3.8% | 1/26 |
| Aplasia cutis congenita over the scalp vertex | 3.8% | 1/26 |
| Aplasia cutis congenita of scalp | 3.8% | 1/26 |
| Ectodermal dysplasia | 3.8% | 1/26 |
| Hypertrichosis | 3.8% | 1/26 |
| Ichthyosis | 3.8% | 1/26 |