C12orf4
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 72.7% | 8/11 |
| Female | 27.3% | 3/11 |
| Indifferent | 0% | 0/11 |
| Unknown | 0% | 0/11 |
| General | ||
| Birth Length abnormalities | 0% | 0/11 |
| Birth Weight abnormalities | 0% | 0/11 |
| Birth Head circumference abnormalities | 0% | 0/11 |
| Current Height abnormalities | 9.1% | 1/11 |
| > P98 : Tall stature | 9.1% | 1/11 |
| Current Weight abnormalities | 0% | 0/11 |
| Current Head circumference abnormalities | 18.2% | 2/11 |
| > P98 : Macrocephaly | 18.2% | 2/11 |
| Neurology | ||
| Neurological abnormalities | 44.4% | 4/9 |
| Autism | 22.2% | 2/9 |
| Generalized hypotonia | 22.2% | 2/9 |
| Delayed fine motor development | 11.1% | 1/9 |
| Gait ataxia | 11.1% | 1/9 |
| Gait disturbance | 11.1% | 1/9 |
| Behavioral problems | 66.7% | 6/9 |
| Aggressive behavior | 33.3% | 3/9 |
| Excessive shyness | 22.2% | 2/9 |
| Facial grimacing | 11.1% | 1/9 |
| Motor stereotypy | 11.1% | 1/9 |
| Reduced eye contact | 11.1% | 1/9 |
| Brain abnormality | 75.0% | 3/4 |
| EEG abnormality | 50.0% | 2/4 |
| Increased intracranial pressure | 50.0% | 2/4 |
| Facial abnormalities | ||
| Abnormality of the ear | 11.1% | 1/9 |
| Protruding ear | 11.1% | 1/9 |
| Abnormality of the eye | 20.0% | 2/10 |
| Abnormality of the eye | 30.0% | 3/10 |
| Deeply set eye | 10.0% | 1/10 |
| obsolete Sparse and thin eyebrow | 10.0% | 1/10 |
| obsolete Prominent epicanthal folds | 10.0% | 1/10 |
| Abnormality of the mouth | 20.0% | 2/10 |
| Long philtrum | 10.0% | 1/10 |
| Micrognathia | 10.0% | 1/10 |
| Narrow mouth | 10.0% | 1/10 |
| Open mouth | 10.0% | 1/10 |
| Short philtrum | 10.0% | 1/10 |
| Thick vermilion border | 10.0% | 1/10 |
| Visual and hearing impairments | ||
| Abnormal vision | 33.3% | 1/3 |
| Hypermetropia | 33.3% | 1/3 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 1/1 |
| Anorexia | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 1/1 |
| Hyperextensible hand joints | 100.0% | 1/1 |
| Small hand | 100.0% | 1/1 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 1/1 |
| Widow's peak | 100.0% | 1/1 |