LARP7
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 54.5% | 6/11 |
| Female | 45.5% | 5/11 |
| Indifferent | 0% | 0/11 |
| Unknown | 0% | 0/11 |
| General | ||
| Birth Length abnormalities | 0% | 0/2 |
| Birth Weight abnormalities | 50.0% | 1/2 |
| < P3 : Small for gestational age | 50.0% | 1/2 |
| Birth Head circumference abnormalities | 0% | 0/2 |
| Current Height abnormalities | 100.0% | 10/10 |
| < P3 : Short stature | 100.0% | 10/10 |
| Current Weight abnormalities | 100.0% | 10/10 |
| < P3 : Decreased body weight | 100.0% | 10/10 |
| Current Head circumference abnormalities | 100.0% | 10/10 |
| < P3 : Microcephaly | 100.0% | 10/10 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 2/2 |
| Delayed speech and language development | 50.0% | 1/2 |
| Fatigable weakness of swallowing muscles | 50.0% | 1/2 |
| Global developmental delay | 50.0% | 1/2 |
| Intellectual disability, severe | 50.0% | 1/2 |
| Severe expressive language delay | 50.0% | 1/2 |
| Behavioral problems | 75.0% | 3/4 |
| Self-mutilation | 50.0% | 2/4 |
| Stereotypic behavior | 25.0% | 1/4 |
| Facial abnormalities | ||
| Abnormality of the ear | 63.6% | 7/11 |
| Low-set ears | 54.5% | 6/11 |
| Low-set, posteriorly rotated ears | 9.1% | 1/11 |
| Posteriorly rotated ears | 9.1% | 1/11 |
| Abnormality of the eye | 100.0% | 11/11 |
| Deeply set eye | 81.8% | 9/11 |
| Short palpebral fissure | 63.6% | 7/11 |
| Small palpebral fissure | 63.6% | 7/11 |
| Sparse eyebrow | 63.6% | 7/11 |
| Strabismus | 36.4% | 4/11 |
| Blepharophimosis | 18.2% | 2/11 |
| Hypertelorism | 9.1% | 1/11 |
| Long eyelashes | 9.1% | 1/11 |
| Sparse lateral eyebrow | 9.1% | 1/11 |
| Upslanted palpebral fissure | 9.1% | 1/11 |
| Abnormality of the nose | 100.0% | 11/11 |
| Wide nose | 90.9% | 10/11 |
| Bulbous nose | 9.1% | 1/11 |
| Hypoplasia of teeth | 9.1% | 1/11 |
| Widely spaced teeth | 9.1% | 1/11 |
| Abnormality of the mouth | 100.0% | 11/11 |
| Short philtrum | 81.8% | 9/11 |
| Wide mouth | 81.8% | 9/11 |
| Widely spaced teeth | 72.7% | 8/11 |
| Everted upper lip vermilion | 9.1% | 1/11 |
| Open mouth | 9.1% | 1/11 |
| Tented upper lip vermilion | 9.1% | 1/11 |
| Thick upper lip vermilion | 9.1% | 1/11 |
| Thick lower lip vermilion | 9.1% | 1/11 |
| Visual and hearing impairments | ||
| Abnormal vision | 50.0% | 1/2 |
| Strabismus | 50.0% | 1/2 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 2/2 |
| Bowel incontinence | 50.0% | 1/2 |
| Constipation | 50.0% | 1/2 |
| Urinary incontinence | 50.0% | 1/2 |
| Urogenital | ||
| Abnormality of the urogenital system | 33.3% | 1/3 |
| Retractile testis | 33.3% | 1/3 |
| Skeleton | ||
| Skeletal abnormalities | 81.8% | 9/11 |
| Abnormality of malar bones | 72.7% | 8/11 |
| Achilles tendon contracture | 9.1% | 1/11 |
| Clinodactyly of the 2nd toe | 9.1% | 1/11 |
| Kyphoscoliosis | 9.1% | 1/11 |
| Scoliosis | 9.1% | 1/11 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 36.4% | 4/11 |
| Thickened skin | 36.4% | 4/11 |
| Abnormality of malar bones | 9.1% | 1/11 |
| Achilles tendon contracture | 9.1% | 1/11 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 9.1% | 1/11 |
| Proportionate short stature | 9.1% | 1/11 |