KCNH1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 64.3% | 9/14 |
| Female | 35.7% | 5/14 |
| Indifferent | 0% | 0/14 |
| Unknown | 0% | 0/14 |
| General | ||
| Birth Length abnormalities | 14.3% | 2/14 |
| < P3 : Birth length less than 3rd percentile | 7.1% | 1/14 |
| > P98 : Birth length greater than 97th percentile | 7.1% | 1/14 |
| Birth Weight abnormalities | 0% | 0/14 |
| Birth Head circumference abnormalities | 0% | 0/14 |
| Current Height abnormalities | 0% | 0/14 |
| Current Weight abnormalities | 0% | 0/14 |
| Current Head circumference abnormalities | 0% | 0/14 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 14/14 |
| Muscular hypotonia | 85.7% | 12/14 |
| Seizures | 64.3% | 9/14 |
| Generalized tonic-clonic seizures | 28.6% | 4/14 |
| EEG abnormality | 21.4% | 3/14 |
| EEG with focal spike waves | 21.4% | 3/14 |
| Brisk reflexes | 7.1% | 1/14 |
| EEG with generalized sharp slow waves | 7.1% | 1/14 |
| EEG with focal spikes | 7.1% | 1/14 |
| Focal seizures | 7.1% | 1/14 |
| Hypertonia | 7.1% | 1/14 |
| Intellectual disability, profound | 7.1% | 1/14 |
| Myoclonus | 7.1% | 1/14 |
| Oculogyric crisis | 7.1% | 1/14 |
| Behavioral problems | 28.6% | 4/14 |
| Absent speech | 7.1% | 1/14 |
| Expressive language delay | 7.1% | 1/14 |
| Irritability | 7.1% | 1/14 |
| Polyphagia | 7.1% | 1/14 |
| Self-injurious behavior | 7.1% | 1/14 |
| Stereotypic behavior | 7.1% | 1/14 |
| Brain abnormality | 7.1% | 1/14 |
| Frontotemporal cerebral atrophy | 7.1% | 1/14 |
| Facial abnormalities | ||
| Abnormality of the ear | 35.7% | 5/14 |
| Macrotia | 28.6% | 4/14 |
| Thickened helices | 7.1% | 1/14 |
| Abnormality of the eye | 85.7% | 12/14 |
| Hypertelorism | 57.1% | 8/14 |
| Epicanthus | 50.0% | 7/14 |
| Bilateral ptosis | 14.3% | 2/14 |
| Downslanted palpebral fissures | 7.1% | 1/14 |
| Prominent epicanthal folds | 7.1% | 1/14 |
| Abnormality of the nose | 92.9% | 13/14 |
| Depressed nasal bridge | 85.7% | 12/14 |
| Wide nasal bridge | 71.4% | 10/14 |
| Short columella | 50.0% | 7/14 |
| Anteverted nares | 28.6% | 4/14 |
| Wide nose | 14.3% | 2/14 |
| Low hanging columella | 7.1% | 1/14 |
| Thick nasal alae | 7.1% | 1/14 |
| Underdeveloped nasolabial fold | 7.1% | 1/14 |
| Abnormality of the mouth | 92.9% | 13/14 |
| Downturned corners of mouth | 85.7% | 12/14 |
| Wide mouth | 71.4% | 10/14 |
| Thick vermilion border | 50.0% | 7/14 |
| Open mouth | 35.7% | 5/14 |
| Gingival overgrowth | 28.6% | 4/14 |
| Everted lower lip vermilion | 21.4% | 3/14 |
| High palate | 21.4% | 3/14 |
| Abnormality of the teeth | 14.3% | 2/14 |
| Delayed eruption of teeth | 14.3% | 2/14 |
| Thick upper lip vermilion | 14.3% | 2/14 |
| Malar flattening | 7.1% | 1/14 |
| Tented upper lip vermilion | 7.1% | 1/14 |
| Triangular mouth | 7.1% | 1/14 |
| Visual and hearing impairments | ||
| Abnormal vision | 14.3% | 2/14 |
| Poor eye contact | 7.1% | 1/14 |
| Strabismus | 7.1% | 1/14 |
| Heart | ||
| Abnormality of the heart | 9.1% | 1/11 |
| Atria septal defect | 9.1% | 1/11 |
| Pulmonic stenosis | 9.1% | 1/11 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 46.2% | 6/13 |
| Constipation | 38.5% | 5/13 |
| Gastroesophageal reflux | 7.7% | 1/13 |
| Urogenital | ||
| Abnormality of the urogenital system | 7.1% | 1/14 |
| Micropenis | 7.1% | 1/14 |
| Skeleton | ||
| Skeletal abnormalities | 92.9% | 13/14 |
| Long toe | 71.4% | 10/14 |
| Adducted thumb | 57.1% | 8/14 |
| Broad thumb | 57.1% | 8/14 |
| Broad toe | 35.7% | 5/14 |
| Shortening of all distal phalanges of the fingers | 35.7% | 5/14 |
| Pseudoepiphysis of the thumb | 21.4% | 3/14 |
| Pseudoepiphysis of the distal phalanx of the thumb | 14.3% | 2/14 |
| Abnormality of femoral epiphysis | 7.1% | 1/14 |
| Absent toenail | 7.1% | 1/14 |
| Absent fingernail | 7.1% | 1/14 |
| Absent distal phalanges | 7.1% | 1/14 |
| Aplasia/Hypoplasia of the distal phalanges of the hand | 7.1% | 1/14 |
| Clinodactyly of the 5th toe | 7.1% | 1/14 |
| Osteosclerosis of ribs | 7.1% | 1/14 |
| Pes planus | 7.1% | 1/14 |
| Pseudoepiphyses of hand bones | 7.1% | 1/14 |
| Small humeral epiphyses | 7.1% | 1/14 |
| Small thenar eminence | 7.1% | 1/14 |
| Tapered finger | 7.1% | 1/14 |
| Wide tufts of distal phalanges | 7.1% | 1/14 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 14/14 |
| Absent nail of hallux | 42.9% | 6/14 |
| Hypoplastic thumbnail | 28.6% | 4/14 |
| Long eyelashes | 21.4% | 3/14 |
| Thick eyebrow | 21.4% | 3/14 |
| Absent thumbnail | 14.3% | 2/14 |
| Hypoplastic toenails | 14.3% | 2/14 |
| Hypoplastic fingernail | 14.3% | 2/14 |
| Abnormality of the nipple | 7.1% | 1/14 |
| Abnormality of the toenails | 7.1% | 1/14 |
| Absent fingernail | 7.1% | 1/14 |
| Absent toenail | 7.1% | 1/14 |
| Aplastic/hypoplastic toenail | 7.1% | 1/14 |
| Coarse hair | 7.1% | 1/14 |
| High anterior hairline | 7.1% | 1/14 |
| Mongolian blue spot | 7.1% | 1/14 |
| Single transverse palmar crease | 7.1% | 1/14 |
| Thick hair | 7.1% | 1/14 |
| Wide intermamillary distance | 7.1% | 1/14 |