| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 57.1% | 8/14 |
| Female | 42.9% | 6/14 |
| General | ||
| Birth Length abnormalities | 47.1% | 8/17 |
| < P3 : Birth length less than 3rd percentile | 47.1% | 8/17 |
| Birth Weight abnormalities | 64.7% | 11/17 |
| < P3 : Small for gestational age | 64.7% | 11/17 |
| Birth Head circumference abnormalities | 29.4% | 5/17 |
| < P3 : Congenital microcephaly | 29.4% | 5/17 |
| Current Height abnormalities | 100.0% | 17/17 |
| < P3 : Short stature | 100.0% | 17/17 |
| Current Weight abnormalities | 94.1% | 16/17 |
| < P3 : Decreased body weight | 88.2% | 15/17 |
| > P98 : Increased body weight | 5.9% | 1/17 |
| Current Head circumference abnormalities | 41.2% | 7/17 |
| < P3 : Microcephaly | 41.2% | 7/17 |
| Neurology | ||
| Neurological abnormalities | 42.9% | 3/7 |
| Spinal cord compression | 42.9% | 3/7 |
| Brain abnormality | 66.7% | 6/9 |
| Ventriculomegaly | 55.6% | 5/9 |
| Syringomyelia | 11.1% | 1/9 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 14/14 |
| Proptosis | 92.9% | 13/14 |
| Blue sclerae | 57.1% | 8/14 |
| Abnormality of the nose | 64.3% | 9/14 |
| Narrow nasal bridge | 57.1% | 8/14 |
| Convex nasal ridge | 42.9% | 6/14 |
| Abnormality of the mouth | 85.7% | 12/14 |
| Micrognathia | 85.7% | 12/14 |
| Visual and hearing impairments | ||
| Abnormal hearing | 83.3% | 10/12 |
| Hearing impairment | 33.3% | 4/12 |
| Bilateral conductive hearing impairment | 25.0% | 3/12 |
| Bilateral sensorineural hearing impairment | 16.7% | 2/12 |
| Conductive hearing impairment | 8.3% | 1/12 |
| Abnormal vision | 91.7% | 11/12 |
| Cataract | 91.7% | 11/12 |
| Abnormality of retinal pigmentation | 50.0% | 6/12 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 14/14 |
| Aplasia/Hypoplasia of the cervical spine | 92.9% | 13/14 |
| Enlarged epiphyses | 92.9% | 13/14 |
| Overtubulated long bones | 92.9% | 13/14 |
| Short metacarpal | 92.9% | 13/14 |
| Short phalanx of finger | 92.9% | 13/14 |
| Short metatarsal | 92.9% | 13/14 |
| Cone-shaped epiphyses of the phalanges of the hand | 85.7% | 12/14 |
| Coxa valga | 85.7% | 12/14 |
| Flared metaphysis | 85.7% | 12/14 |
| Short distal phalanx of finger | 85.7% | 12/14 |
| Wide anterior fontanel | 85.7% | 12/14 |
| Irregular vertebral endplates | 78.6% | 11/14 |
| Pseudoepiphyses of the metacarpals | 78.6% | 11/14 |
| Dysplastic radii | 71.4% | 10/14 |
| Talipes equinovarus | 71.4% | 10/14 |
| Hypoplasia of proximal fibula | 64.3% | 9/14 |
| Platybasia | 64.3% | 9/14 |
| Ivory epiphyses of the phalanges of the hand | 57.1% | 8/14 |
| Abnormality of the lumbar spine | 50.0% | 7/14 |
| Platyspondyly | 42.9% | 6/14 |
| Abnormality of the sternum | 35.7% | 5/14 |
| Madelung deformity | 35.7% | 5/14 |
| C1-C2 subluxation | 21.4% | 3/14 |
| Premature osteoarthritis | 21.4% | 3/14 |
| Cervical platyspondyly | 7.1% | 1/14 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 84.6% | 11/13 |
| Neutropenia | 84.6% | 11/13 |