GINS3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 25.0% | 3/12 |
| Female | 75.0% | 9/12 |
| Indifferent | 0% | 0/12 |
| Unknown | 0% | 0/12 |
| General | ||
| Birth Length abnormalities | 41.7% | 5/12 |
| < P3 : Birth length less than 3rd percentile | 41.7% | 5/12 |
| Birth Weight abnormalities | 75.0% | 9/12 |
| < P3 : Small for gestational age | 75.0% | 9/12 |
| Birth Head circumference abnormalities | 41.7% | 5/12 |
| < P3 : Congenital microcephaly | 41.7% | 5/12 |
| Current Height abnormalities | 91.7% | 11/12 |
| < P3 : Short stature | 91.7% | 11/12 |
| Current Weight abnormalities | 75.0% | 9/12 |
| < P3 : Decreased body weight | 75.0% | 9/12 |
| Current Head circumference abnormalities | 91.7% | 11/12 |
| < P3 : Microcephaly | 91.7% | 11/12 |
| Neurology | ||
| Brain abnormality | 18.2% | 2/11 |
| Abnormality of brain morphology | 9.1% | 1/11 |
| Basal ganglia calcification | 9.1% | 1/11 |
| Subcortical white matter calcifications | 9.1% | 1/11 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 11/11 |
| Microtia | 100.0% | 11/11 |
| Posteriorly rotated ears | 54.5% | 6/11 |
| Low-set, posteriorly rotated ears | 45.5% | 5/11 |
| Microtia, second degree | 45.5% | 5/11 |
| Abnormality of the eye | 63.6% | 7/11 |
| Downslanted palpebral fissures | 54.5% | 6/11 |
| Horizontal eyebrow | 45.5% | 5/11 |
| Hypertelorism | 9.1% | 1/11 |
| Abnormality of the nose | 90.9% | 10/11 |
| Long nose | 45.5% | 5/11 |
| Prominent nose | 45.5% | 5/11 |
| Prominent nasal tip | 45.5% | 5/11 |
| Abnormality of the mouth | 72.7% | 8/11 |
| Thick lower lip vermilion | 45.5% | 5/11 |
| Micrognathia | 27.3% | 3/11 |
| Thick vermilion border | 9.1% | 1/11 |
| Visual and hearing impairments | ||
| Abnormal hearing | 8.3% | 1/12 |
| Hearing impairment | 8.3% | 1/12 |
| Pulmonary | ||
| Abnormality of the lungs | 41.7% | 5/12 |
| Recurrent respiratory infections | 41.7% | 5/12 |
| Asthma | 25.0% | 3/12 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 41.7% | 5/12 |
| Failure to thrive | 41.7% | 5/12 |
| Chronic diarrhea | 8.3% | 1/12 |
| Gluten intolerance | 8.3% | 1/12 |
| Urogenital | ||
| Abnormality of the urogenital system | 25.0% | 3/12 |
| Cryptorchidism | 25.0% | 3/12 |
| Hypospadias | 8.3% | 1/12 |
| Nephrolithiasis | 8.3% | 1/12 |
| Scrotal hypoplasia | 8.3% | 1/12 |
| Skeleton | ||
| Skeletal abnormalities | 90.9% | 10/11 |
| Pectus excavatum of inferior sternum | 45.5% | 5/11 |
| Aplasia/Hypoplasia of the patella | 27.3% | 3/11 |
| Clinodactyly | 27.3% | 3/11 |
| Short phalanx of finger | 27.3% | 3/11 |
| Delayed skeletal maturation | 9.1% | 1/11 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 44.4% | 4/9 |
| Neutropenia | 44.4% | 4/9 |