KCNN3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 28.6% | 2/7 |
| Female | 71.4% | 5/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| General | ||
| Birth Length abnormalities | 14.3% | 1/7 |
| > P98 : Birth length greater than 97th percentile | 14.3% | 1/7 |
| Birth Weight abnormalities | 14.3% | 1/7 |
| > P98 : Large for gestational age | 14.3% | 1/7 |
| Birth Head circumference abnormalities | 28.6% | 2/7 |
| > P98 : Macrocephaly at birth | 28.6% | 2/7 |
| Current Height abnormalities | 14.3% | 1/7 |
| > P98 : Tall stature | 14.3% | 1/7 |
| Current Weight abnormalities | 28.6% | 2/7 |
| > P98 : Increased body weight | 14.3% | 1/7 |
| < P3 : Decreased body weight | 14.3% | 1/7 |
| Current Head circumference abnormalities | 28.6% | 2/7 |
| > P98 : Macrocephaly | 28.6% | 2/7 |
| Neurology | ||
| Neurological abnormalities | 85.7% | 6/7 |
| Muscular hypotonia | 42.9% | 3/7 |
| Brisk reflexes | 14.3% | 1/7 |
| Delayed speech and language development | 14.3% | 1/7 |
| Generalized hypotonia | 14.3% | 1/7 |
| Hypertonia | 14.3% | 1/7 |
| Hyporeflexia | 14.3% | 1/7 |
| Lower limb hypertonia | 14.3% | 1/7 |
| Neurodevelopmental delay | 14.3% | 1/7 |
| Seizures | 14.3% | 1/7 |
| Toe walking | 14.3% | 1/7 |
| Behavioral problems | 28.6% | 2/7 |
| Hallucinations | 14.3% | 1/7 |
| Psychotic episodes | 14.3% | 1/7 |
| Brain abnormality | 33.3% | 2/6 |
| Agenesis of corpus callosum | 16.7% | 1/6 |
| Ventriculomegaly | 16.7% | 1/6 |
| Facial abnormalities | ||
| Abnormality of the ear | 42.9% | 3/7 |
| Abnormality of the pinna | 14.3% | 1/7 |
| Cupped ear | 14.3% | 1/7 |
| Long ear | 14.3% | 1/7 |
| Protruding ear | 14.3% | 1/7 |
| Squared superior portion of helix | 14.3% | 1/7 |
| Uplifted earlobe | 14.3% | 1/7 |
| Abnormality of the eye | 42.9% | 3/7 |
| Downslanted palpebral fissures | 14.3% | 1/7 |
| Epicanthus | 14.3% | 1/7 |
| Hypertelorism | 14.3% | 1/7 |
| Periorbital fullness | 14.3% | 1/7 |
| Abnormality of the nose | 85.7% | 6/7 |
| Broad nasal tip | 57.1% | 4/7 |
| Depressed nasal bridge | 28.6% | 2/7 |
| Prominent nose | 28.6% | 2/7 |
| Anteverted nares | 14.3% | 1/7 |
| Bulbous nose | 14.3% | 1/7 |
| Thick nasal alae | 14.3% | 1/7 |
| Wide nasal base | 14.3% | 1/7 |
| Wide nasal bridge | 14.3% | 1/7 |
| Abnormality of the mouth | 85.7% | 6/7 |
| Gingival overgrowth | 57.1% | 4/7 |
| High palate | 42.9% | 3/7 |
| Thick vermilion border | 42.9% | 3/7 |
| Thick lower lip vermilion | 28.6% | 2/7 |
| Long philtrum | 14.3% | 1/7 |
| Misalignment of teeth | 14.3% | 1/7 |
| Retrognathia | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal hearing | 14.3% | 1/7 |
| Hyperacusis | 14.3% | 1/7 |
| Abnormal vision | 42.9% | 3/7 |
| Abnormality of the optic disc | 14.3% | 1/7 |
| Hypermetropia | 14.3% | 1/7 |
| Strabismus | 14.3% | 1/7 |
| Heart | ||
| Abnormality of the heart | 57.1% | 4/7 |
| Patent ductus arteriosus | 42.9% | 3/7 |
| Abnormality of the left ventricle | 14.3% | 1/7 |
| Abnormality of the coronary arteries | 14.3% | 1/7 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 28.6% | 2/7 |
| Episodic vomiting | 14.3% | 1/7 |
| Microcolon | 14.3% | 1/7 |
| Urogenital | ||
| Abnormality of the urogenital system | 14.3% | 1/7 |
| Hypospadias | 14.3% | 1/7 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 7/7 |
| Long hallux | 28.6% | 2/7 |
| Shortening of all distal phalanges of the toes | 28.6% | 2/7 |
| Short distal phalanx of finger | 28.6% | 2/7 |
| Shortening of all distal phalanges of the fingers | 28.6% | 2/7 |
| Tapered finger | 28.6% | 2/7 |
| Abnormality of the distal phalanx of the hallux | 14.3% | 1/7 |
| Absent distal phalanx of the 2nd toe | 14.3% | 1/7 |
| Aplasia/Hypoplasia of the distal phalanges of the hand | 14.3% | 1/7 |
| Aplasia of the distal phalanx of the 5th toe | 14.3% | 1/7 |
| Aplasia/Hypoplasia of the phalanges of the hand | 14.3% | 1/7 |
| Broad hallux | 14.3% | 1/7 |
| Clinodactyly | 14.3% | 1/7 |
| Flexion contracture | 14.3% | 1/7 |
| Hypoplasia of the phalanges of the toes | 14.3% | 1/7 |
| Short metacarpal | 14.3% | 1/7 |
| Thoracolumbar kyphoscoliosis | 14.3% | 1/7 |
| Triphalangeal thumb | 14.3% | 1/7 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 7/7 |
| Hypoplastic fingernail | 71.4% | 5/7 |
| Absent toenail | 42.9% | 3/7 |
| Long eyelashes | 42.9% | 3/7 |
| Low anterior hairline | 42.9% | 3/7 |
| Synophrys | 42.9% | 3/7 |
| Absent thumbnail | 28.6% | 2/7 |
| Facial hypertrichosis | 28.6% | 2/7 |
| Hypertrichosis | 28.6% | 2/7 |
| Hypoplastic toenails | 28.6% | 2/7 |
| Prominent eyelashes | 28.6% | 2/7 |
| Small nail | 28.6% | 2/7 |
| Thick hair | 28.6% | 2/7 |
| Abnormal palmar dermatoglyphics | 14.3% | 1/7 |
| Absent fifth fingernail | 14.3% | 1/7 |
| Aplastic/hypoplastic toenail | 14.3% | 1/7 |
| Concave nail | 14.3% | 1/7 |
| Hypoplastic thumbnail | 14.3% | 1/7 |
| Low posterior hairline | 14.3% | 1/7 |
| Soft skin | 14.3% | 1/7 |
| Supernumerary nipple | 14.3% | 1/7 |
| Thick eyebrow | 14.3% | 1/7 |
| Thoracic hypertrichosis | 14.3% | 1/7 |