ARCN1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 43.8% | 7/16 |
| Female | 56.3% | 9/16 |
| Indifferent | 0% | 0/16 |
| Unknown | 0% | 0/16 |
| General | ||
| Birth Length abnormalities | 37.5% | 6/16 |
| < P3 : Birth length less than 3rd percentile | 37.5% | 6/16 |
| Birth Weight abnormalities | 31.3% | 5/16 |
| < P3 : Small for gestational age | 31.3% | 5/16 |
| Birth Head circumference abnormalities | 25.0% | 4/16 |
| < P3 : Primary microcephaly | 25.0% | 4/16 |
| Current Height abnormalities | 25.0% | 4/16 |
| < P3 : Short stature | 25.0% | 4/16 |
| Current Weight abnormalities | 25.0% | 4/16 |
| < P3 : Decreased body weight | 18.8% | 3/16 |
| > P98 : Increased body weight | 6.3% | 1/16 |
| Current Head circumference abnormalities | 31.3% | 5/16 |
| < P3 : Microcephaly | 31.3% | 5/16 |
| Neurology | ||
| Neurological abnormalities | 60.0% | 6/10 |
| Global developmental delay | 40.0% | 4/10 |
| Seizure | 20.0% | 2/10 |
| Ataxia | 10.0% | 1/10 |
| Autism | 10.0% | 1/10 |
| Dyslexia | 10.0% | 1/10 |
| Hyperreflexia | 10.0% | 1/10 |
| Interictal epileptiform activity | 10.0% | 1/10 |
| Severe global developmental delay | 10.0% | 1/10 |
| Spasticity | 10.0% | 1/10 |
| Status epilepticus | 10.0% | 1/10 |
| Behavioral problems | 16.7% | 1/6 |
| Feeding difficulties | 16.7% | 1/6 |
| Brain abnormality | 80.0% | 12/15 |
| Microcephaly | 73.3% | 11/15 |
| Abnormal cerebral white matter morphology | 6.7% | 1/15 |
| Cerebellar atrophy | 6.7% | 1/15 |
| Intraventricular hemorrhage | 6.7% | 1/15 |
| Primary microcephaly | 6.7% | 1/15 |
| Facial abnormalities | ||
| Abnormality of the eye | 77.8% | 7/9 |
| Hypotelorism | 33.3% | 3/9 |
| Cataract | 11.1% | 1/9 |
| Cortical cataract | 11.1% | 1/9 |
| Downslanted palpebral fissures | 11.1% | 1/9 |
| Posterior polar cataract | 11.1% | 1/9 |
| Abnormality of the nose | 33.3% | 2/6 |
| Bulbous nose | 33.3% | 2/6 |
| Abnormality of the mouth | 93.8% | 15/16 |
| Micrognathia | 75.0% | 12/16 |
| Cleft palate | 31.3% | 5/16 |
| Bifid uvula | 12.5% | 2/16 |
| Microretrognathia | 12.5% | 2/16 |
| Downturned corners of mouth | 6.3% | 1/16 |
| High palate | 6.3% | 1/16 |
| Retrognathia | 6.3% | 1/16 |
| Visual and hearing impairments | ||
| Abnormal vision | 80.0% | 4/5 |
| Cataract | 20.0% | 1/5 |
| Cortical cataract | 20.0% | 1/5 |
| Myopia | 20.0% | 1/5 |
| Posterior polar cataract | 20.0% | 1/5 |
| Heart | ||
| Abnormality of the heart | 26.7% | 4/15 |
| Patent foramen ovale | 20.0% | 3/15 |
| Atrial septal defect | 6.7% | 1/15 |
| Patent ductus arteriosus | 6.7% | 1/15 |
| Perimembranous ventricular septal defect | 6.7% | 1/15 |
| Ventricular septal defect | 6.7% | 1/15 |
| Pulmonary | ||
| Abnormality of the lungs | 33.3% | 2/6 |
| Aspiration | 16.7% | 1/6 |
| Sleep apnea | 16.7% | 1/6 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 57.1% | 8/14 |
| Decreased liver function | 42.9% | 6/14 |
| Gastrostomy tube feeding in infancy | 14.3% | 2/14 |
| Gastroesophageal reflux | 7.1% | 1/14 |
| Urogenital | ||
| Abnormality of the urogenital system | 77.8% | 7/9 |
| Cryptorchidism | 33.3% | 3/9 |
| Hypospadias | 22.2% | 2/9 |
| Micropenis | 22.2% | 2/9 |
| Ambiguous genitalia | 11.1% | 1/9 |
| Bifid scrotum | 11.1% | 1/9 |
| obsolete Small scrotum | 11.1% | 1/9 |
| Penoscrotal hypospadias | 11.1% | 1/9 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 15/15 |
| Short stature | 80.0% | 12/15 |
| Mesomelic/rhizomelic limb shortening | 46.7% | 7/15 |
| obsolete Joint laxity | 20.0% | 3/15 |
| Broad femoral neck | 13.3% | 2/15 |
| Accelerated skeletal maturation | 6.7% | 1/15 |
| Advanced ossification of carpal bones | 6.7% | 1/15 |
| Bowing of the legs | 6.7% | 1/15 |
| Brachydactyly | 6.7% | 1/15 |
| Dolichocephaly | 6.7% | 1/15 |
| Large hands | 6.7% | 1/15 |
| Long foot | 6.7% | 1/15 |
| Pectus carinatum | 6.7% | 1/15 |
| Rhizomelia | 6.7% | 1/15 |
| Short lower limbs | 6.7% | 1/15 |
| Skeletal muscle hypertrophy | 6.7% | 1/15 |
| Upper limb undergrowth | 6.7% | 1/15 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Abnormal circulating hormone concentration | 100.0% | 1/1 |
| Abnormality of the metabolic system | 50.0% | 4/8 |
| Abnormal circulating carbohydrate concentration | 37.5% | 3/8 |
| Abnormal glycosylation | 12.5% | 1/8 |
| Abnormality of the immune system | 37.5% | 3/8 |
| Giant cell hepatitis | 37.5% | 3/8 |
| Neoplasia | ||
| Neoplasia | 10.0% | 1/10 |
| Hepatoblastoma | 10.0% | 1/10 |