KDELR2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 6/9 |
| Female | 33.3% | 3/9 |
| Indifferent | 0% | 0/9 |
| Unknown | 0% | 0/9 |
| General | ||
| Birth Length abnormalities | 0% | 0/9 |
| Birth Weight abnormalities | 0% | 0/9 |
| Birth Head circumference abnormalities | 0% | 0/9 |
| Current Height abnormalities | 66.7% | 6/9 |
| < P3 : Short stature | 66.7% | 6/9 |
| Current Weight abnormalities | 77.8% | 7/9 |
| < P3 : Decreased body weight | 77.8% | 7/9 |
| Current Head circumference abnormalities | 22.2% | 2/9 |
| < P3 : Microcephaly | 22.2% | 2/9 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 5/5 |
| Muscular hypotonia | 100.0% | 5/5 |
| Torticollis | 20.0% | 1/5 |
| Facial abnormalities | ||
| Abnormality of the eye | 42.9% | 3/7 |
| Blue sclerae | 28.6% | 2/7 |
| Deeply set eye | 28.6% | 2/7 |
| Epicanthus inversus | 28.6% | 2/7 |
| Abnormality of the nose | 25.0% | 1/4 |
| Convex nasal ridge | 25.0% | 1/4 |
| Abnormality of the mouth | 75.0% | 3/4 |
| Dentinogenesis imperfecta | 50.0% | 2/4 |
| Carious teeth | 25.0% | 1/4 |
| Increased number of teeth | 25.0% | 1/4 |
| Microdontia | 25.0% | 1/4 |
| Pointed chin | 25.0% | 1/4 |
| Heart | ||
| Abnormality of the heart | 28.6% | 2/7 |
| Endocarditis | 14.3% | 1/7 |
| Left ventricular septal hypertrophy | 14.3% | 1/7 |
| Mitral regurgitation | 14.3% | 1/7 |
| Tricuspid regurgitation | 14.3% | 1/7 |
| Pulmonary | ||
| Abnormality of the lungs | 50.0% | 1/2 |
| Restrictive lung disease | 50.0% | 1/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 1/1 |
| Congenital hepatic fibrosis | 100.0% | 1/1 |
| Hepatosplenomegaly | 100.0% | 1/1 |
| Portal hypertension | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 9/9 |
| Recurrent fractures | 88.9% | 8/9 |
| Bowing of the legs | 77.8% | 7/9 |
| Bowing of the arm | 66.7% | 6/9 |
| Joint hypermobility | 66.7% | 6/9 |
| Lower limb undergrowth | 66.7% | 6/9 |
| Scoliosis | 55.6% | 5/9 |
| Upper limb undergrowth | 55.6% | 5/9 |
| Barrel-shaped chest | 44.4% | 4/9 |
| Pectus excavatum | 33.3% | 3/9 |
| Bell-shaped thorax | 22.2% | 2/9 |
| Osteoporosis | 22.2% | 2/9 |
| Abnormality of the thorax | 11.1% | 1/9 |
| Coxa valga | 11.1% | 1/9 |
| Kyphoscoliosis | 11.1% | 1/9 |
| Platyspondyly | 11.1% | 1/9 |
| Reduced bone mineral density | 11.1% | 1/9 |
| Wormian bones | 11.1% | 1/9 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 2/4 |
| Sparse hair | 50.0% | 2/4 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 100.0% | 1/1 |
| Osteomyelitis | 100.0% | 1/1 |
| Sepsis | 100.0% | 1/1 |
| Neoplasia | ||
| Neoplasia | 100.0% | 1/1 |
| Recurrent abscess formation | 100.0% | 1/1 |