KCNK9
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 60.6% | 20/33 |
| Female | 36.4% | 12/33 |
| Indifferent | 0% | 0/33 |
| Unknown | 3.0% | 1/33 |
| General | ||
| Birth Length abnormalities | 0% | 0/33 |
| Birth Weight abnormalities | 0% | 0/33 |
| Birth Head circumference abnormalities | 0% | 0/33 |
| Current Height abnormalities | 0% | 0/33 |
| Current Weight abnormalities | 0% | 0/33 |
| Current Head circumference abnormalities | 0% | 0/33 |
| Neurology | ||
| Neurological abnormalities | 36.4% | 12/33 |
| Seizures | 27.3% | 9/33 |
| Impaired pain sensation | 9.1% | 3/33 |
| EEG abnormality | 6.1% | 2/33 |
| Behavioral problems | 63.6% | 21/33 |
| Behavioral abnormality | 60.6% | 20/33 |
| Attention deficit hyperactivity disorder | 45.5% | 15/33 |
| Abnormal aggressive, impulsive or violent behavior | 24.2% | 8/33 |
| Autistic behavior | 15.2% | 5/33 |
| Emotional blunting | 6.1% | 2/33 |
| Aggressive behavior | 3.0% | 1/33 |
| Obsessive-compulsive behavior | 3.0% | 1/33 |
| Brain abnormality | 3.0% | 1/33 |
| EEG abnormality | 3.0% | 1/33 |
| Facial abnormalities | ||
| Abnormality of the ear | 33.3% | 11/33 |
| Low-set, posteriorly rotated ears | 24.2% | 8/33 |
| Preauricular pit | 6.1% | 2/33 |
| Abnormality of the eye | 72.7% | 24/33 |
| Broad eyebrow | 45.5% | 15/33 |
| Highly arched eyebrow | 33.3% | 11/33 |
| Epicanthus | 30.3% | 10/33 |
| Ptosis | 24.2% | 8/33 |
| Upslanted palpebral fissure | 12.1% | 4/33 |
| Downslanted palpebral fissures | 9.1% | 3/33 |
| Long eyelashes | 9.1% | 3/33 |
| Synophrys | 9.1% | 3/33 |
| Hypotelorism | 6.1% | 2/33 |
| High palate | 3.0% | 1/33 |
| Hypertelorism | 3.0% | 1/33 |
| Long palpebral fissure | 3.0% | 1/33 |
| Macrodontia of permanent maxillary central incisor | 3.0% | 1/33 |
| Abnormality of the nose | 45.5% | 15/33 |
| Anteverted nares | 27.3% | 9/33 |
| Prominent nasal bridge | 18.2% | 6/33 |
| Short nose | 15.2% | 5/33 |
| Wide nasal bridge | 9.1% | 3/33 |
| Depressed nasal bridge | 3.0% | 1/33 |
| High palate | 3.0% | 1/33 |
| Abnormality of the mouth | 87.9% | 29/33 |
| Microretrognathia | 51.5% | 17/33 |
| Open mouth | 48.5% | 16/33 |
| Short philtrum | 48.5% | 16/33 |
| Tented upper lip vermilion | 45.5% | 15/33 |
| Downturned corners of mouth | 36.4% | 12/33 |
| Thin upper lip vermilion | 33.3% | 11/33 |
| Cleft palate | 27.3% | 9/33 |
| High palate | 24.2% | 8/33 |
| Alveolar ridge overgrowth | 18.2% | 6/33 |
| Everted lower lip vermilion | 18.2% | 6/33 |
| Macrodontia of permanent maxillary central incisor | 18.2% | 6/33 |
| Broad philtrum | 9.1% | 3/33 |
| Long philtrum | 9.1% | 3/33 |
| Wide mouth | 9.1% | 3/33 |
| Glossoptosis | 6.1% | 2/33 |
| Smooth philtrum | 6.1% | 2/33 |
| Bifid uvula | 3.0% | 1/33 |
| Downslanted palpebral fissures | 3.0% | 1/33 |
| Everted upper lip vermilion | 3.0% | 1/33 |
| Ptosis | 3.0% | 1/33 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 81.8% | 27/33 |
| Feeding difficulties | 66.7% | 22/33 |
| Dysphagia | 36.4% | 12/33 |
| Gastroesophageal reflux | 30.3% | 10/33 |
| Dysphasia | 3.0% | 1/33 |
| Skeleton | ||
| Skeletal abnormalities | 48.5% | 16/33 |
| Scoliosis | 24.2% | 8/33 |
| Tapered finger | 18.2% | 6/33 |
| Pes planus | 12.1% | 4/33 |
| Small hand | 9.1% | 3/33 |
| Prominent fingertip pads | 6.1% | 2/33 |
| Short foot | 6.1% | 2/33 |
| Clinodactyly of the 5th finger | 3.0% | 1/33 |
| Long fingers | 3.0% | 1/33 |
| Long toe | 3.0% | 1/33 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 15.2% | 5/33 |
| Single transverse palmar crease | 9.1% | 3/33 |
| Sacral dimple | 6.1% | 2/33 |