ARFGEF1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 86.7% | 13/15 |
| Female | 13.3% | 2/15 |
| Indifferent | 0% | 0/15 |
| Unknown | 0% | 0/15 |
| General | ||
| Birth Length abnormalities | 0% | 0/15 |
| Birth Weight abnormalities | 0% | 0/15 |
| Birth Head circumference abnormalities | 0% | 0/15 |
| Current Height abnormalities | 0% | 0/15 |
| Current Weight abnormalities | 0% | 0/15 |
| Current Head circumference abnormalities | 0% | 0/15 |
| Neurology | ||
| Neurological abnormalities | 93.3% | 14/15 |
| Bilateral tonic-clonic seizure | 26.7% | 4/15 |
| Poor fine motor coordination | 26.7% | 4/15 |
| Febrile seizure (within the age range of 3 months to 6 years) | 20.0% | 3/15 |
| Seizure | 20.0% | 3/15 |
| Autism | 13.3% | 2/15 |
| Generalized myoclonic-atonic seizure | 13.3% | 2/15 |
| Action tremor | 6.7% | 1/15 |
| Agitation | 6.7% | 1/15 |
| Atonic seizure | 6.7% | 1/15 |
| Dysarthria | 6.7% | 1/15 |
| Gait imbalance | 6.7% | 1/15 |
| Generalized non-motor (absence) seizure | 6.7% | 1/15 |
| Generalized hypotonia | 6.7% | 1/15 |
| Myoclonic absence seizure | 6.7% | 1/15 |
| Vocal cord paralysis | 6.7% | 1/15 |
| Behavioral problems | 86.7% | 13/15 |
| Aggressive behavior | 33.3% | 5/15 |
| Attention deficit hyperactivity disorder | 20.0% | 3/15 |
| Short attention span | 20.0% | 3/15 |
| Anxiety | 13.3% | 2/15 |
| Hyperactivity | 13.3% | 2/15 |
| Agitation | 6.7% | 1/15 |
| Autism | 6.7% | 1/15 |
| Autistic behavior | 6.7% | 1/15 |
| Compulsive behaviors | 6.7% | 1/15 |
| Oppositional defiant disorder | 6.7% | 1/15 |
| Brain abnormality | 66.7% | 8/12 |
| Delayed CNS myelination | 25.0% | 3/12 |
| Cerebellar atrophy | 16.7% | 2/12 |
| Abnormal cerebellar vermis morphology | 8.3% | 1/12 |
| Abnormal corpus callosum morphology | 8.3% | 1/12 |
| Chiari type I malformation | 8.3% | 1/12 |
| Chiari malformation | 8.3% | 1/12 |
| Dysarthria | 8.3% | 1/12 |
| EEG abnormality | 8.3% | 1/12 |
| Nonprogressive cerebellar ataxia | 8.3% | 1/12 |
| Occipital meningocele | 8.3% | 1/12 |
| Periventricular heterotopia | 8.3% | 1/12 |
| Pineal cyst | 8.3% | 1/12 |
| Facial abnormalities | ||
| Abnormality of the ear | 57.1% | 8/14 |
| Low-set ears | 35.7% | 5/14 |
| Macrotia | 35.7% | 5/14 |
| Microtia | 14.3% | 2/14 |
| Abnormality of the eye | 21.4% | 3/14 |
| Strabismus | 14.3% | 2/14 |
| Thick eyebrow | 7.1% | 1/14 |
| Abnormality of the nose | 7.1% | 1/14 |
| Bulbous tips of toes | 7.1% | 1/14 |
| Abnormality of the mouth | 21.4% | 3/14 |
| Wide mouth | 14.3% | 2/14 |
| Abnormal incisor morphology | 7.1% | 1/14 |
| Short philtrum | 7.1% | 1/14 |
| Visual and hearing impairments | ||
| Abnormal hearing | 8.3% | 1/12 |
| Mild hearing impairment | 8.3% | 1/12 |
| Abnormal vision | 30.8% | 4/13 |
| Hypermetropia | 30.8% | 4/13 |
| Astigmatism | 23.1% | 3/13 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 2/2 |
| Long fingers | 100.0% | 2/2 |
| Brachycephaly | 50.0% | 1/2 |
| Plagiocephaly | 50.0% | 1/2 |
| Slender finger | 50.0% | 1/2 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 1/1 |
| Facial hypertrichosis | 100.0% | 1/1 |
| Generalized hirsutism | 100.0% | 1/1 |
| obsolete Pointed frontal hairline | 100.0% | 1/1 |