ARFGEF1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 88.9% | 16/18 |
| Female | 11.1% | 2/18 |
| Indifferent | 0% | 0/18 |
| Unknown | 0% | 0/18 |
| General | ||
| Birth Length abnormalities | 0% | 0/18 |
| Birth Weight abnormalities | 5.6% | 1/18 |
| < P3 : Small for gestational age | 5.6% | 1/18 |
| Birth Head circumference abnormalities | 0% | 0/18 |
| Current Height abnormalities | 0% | 0/18 |
| Current Weight abnormalities | 0% | 0/18 |
| Current Head circumference abnormalities | 0% | 0/18 |
| Neurology | ||
| Neurological abnormalities | 94.4% | 17/18 |
| Seizure | 33.3% | 6/18 |
| Bilateral tonic-clonic seizure | 22.2% | 4/18 |
| Poor fine motor coordination | 22.2% | 4/18 |
| Autism | 16.7% | 3/18 |
| Febrile seizure (within the age range of 3 months to 6 years) | 16.7% | 3/18 |
| Generalized myoclonic-atonic seizure | 11.1% | 2/18 |
| Action tremor | 5.6% | 1/18 |
| Agitation | 5.6% | 1/18 |
| Atonic seizure | 5.6% | 1/18 |
| Dysarthria | 5.6% | 1/18 |
| Gait imbalance | 5.6% | 1/18 |
| Generalized non-motor (absence) seizure | 5.6% | 1/18 |
| Generalized hypotonia | 5.6% | 1/18 |
| Myoclonic absence seizure | 5.6% | 1/18 |
| Poor hand-eye coordination | 5.6% | 1/18 |
| Vocal cord paralysis | 5.6% | 1/18 |
| Behavioral problems | 77.8% | 14/18 |
| Aggressive behavior | 27.8% | 5/18 |
| Attention deficit hyperactivity disorder | 16.7% | 3/18 |
| Short attention span | 16.7% | 3/18 |
| Anxiety | 11.1% | 2/18 |
| Hyperactivity | 11.1% | 2/18 |
| Agitation | 5.6% | 1/18 |
| Autistic behavior | 5.6% | 1/18 |
| Autism | 5.6% | 1/18 |
| Compulsive behaviors | 5.6% | 1/18 |
| Oppositional defiant disorder | 5.6% | 1/18 |
| Brain abnormality | 66.7% | 10/15 |
| Delayed CNS myelination | 20.0% | 3/15 |
| EEG abnormality | 20.0% | 3/15 |
| Cerebellar atrophy | 13.3% | 2/15 |
| Abnormal cerebellar vermis morphology | 6.7% | 1/15 |
| Abnormal corpus callosum morphology | 6.7% | 1/15 |
| Chiari type I malformation | 6.7% | 1/15 |
| Chiari malformation | 6.7% | 1/15 |
| Dysarthria | 6.7% | 1/15 |
| Microcephaly | 6.7% | 1/15 |
| Nonprogressive cerebellar ataxia | 6.7% | 1/15 |
| Occipital meningocele | 6.7% | 1/15 |
| Periventricular heterotopia | 6.7% | 1/15 |
| Pineal cyst | 6.7% | 1/15 |
| Facial abnormalities | ||
| Abnormality of the ear | 47.1% | 8/17 |
| Low-set ears | 29.4% | 5/17 |
| Macrotia | 29.4% | 5/17 |
| Microtia | 11.8% | 2/17 |
| Abnormality of the eye | 17.6% | 3/17 |
| Strabismus | 11.8% | 2/17 |
| Thick eyebrow | 5.9% | 1/17 |
| Abnormality of the nose | 5.9% | 1/17 |
| Bulbous tips of toes | 5.9% | 1/17 |
| Abnormality of the mouth | 17.6% | 3/17 |
| Wide mouth | 11.8% | 2/17 |
| Abnormal incisor morphology | 5.9% | 1/17 |
| Short philtrum | 5.9% | 1/17 |
| Visual and hearing impairments | ||
| Abnormal hearing | 6.7% | 1/15 |
| Mild hearing impairment | 6.7% | 1/15 |
| Abnormal vision | 31.3% | 5/16 |
| Hypermetropia | 25.0% | 4/16 |
| Astigmatism | 18.8% | 3/16 |
| Strabismus | 6.3% | 1/16 |
| 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 |