SMG8
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 55.6% | 5/9 |
| Female | 33.3% | 3/9 |
| Indifferent | 0% | 0/9 |
| Unknown | 11.1% | 1/9 |
| General | ||
| Birth Length abnormalities | 0% | 0/9 |
| Birth Weight abnormalities | 22.2% | 2/9 |
| < P3 : Small for gestational age | 22.2% | 2/9 |
| Birth Head circumference abnormalities | 0% | 0/9 |
| Current Height abnormalities | 33.3% | 3/9 |
| < P3 : Short stature | 33.3% | 3/9 |
| Current Weight abnormalities | 11.1% | 1/9 |
| < P3 : Decreased body weight | 11.1% | 1/9 |
| Current Head circumference abnormalities | 66.7% | 6/9 |
| < P3 : Microcephaly | 66.7% | 6/9 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 5/5 |
| Hypertonia | 40.0% | 2/5 |
| Muscular hypotonia | 40.0% | 2/5 |
| Abnormal pyramidal signs | 20.0% | 1/5 |
| Ankle clonus | 20.0% | 1/5 |
| Brisk reflexes | 20.0% | 1/5 |
| Gait ataxia | 20.0% | 1/5 |
| Hyperreflexia | 20.0% | 1/5 |
| Spasticity | 20.0% | 1/5 |
| Behavioral problems | 100.0% | 3/3 |
| Autistic behavior | 66.7% | 2/3 |
| Hyperactivity | 33.3% | 1/3 |
| Impulsivity | 33.3% | 1/3 |
| Self-mutilation | 33.3% | 1/3 |
| Brain abnormality | 100.0% | 4/4 |
| Abnormality of the cerebral white matter | 25.0% | 1/4 |
| Cerebral white matter atrophy | 25.0% | 1/4 |
| Diffuse white matter abnormalities | 25.0% | 1/4 |
| Ventriculomegaly | 25.0% | 1/4 |
| Facial abnormalities | ||
| Abnormality of the ear | 71.4% | 5/7 |
| Macrotia | 42.9% | 3/7 |
| Low-set ears | 14.3% | 1/7 |
| Low-set, posteriorly rotated ears | 14.3% | 1/7 |
| Abnormality of the eye | 42.9% | 3/7 |
| Hypertelorism | 42.9% | 3/7 |
| Abnormality of the nose | 57.1% | 4/7 |
| Bulbous nose | 42.9% | 3/7 |
| Prominent nasolabial fold | 42.9% | 3/7 |
| Prominent nose | 14.3% | 1/7 |
| Abnormality of the mouth | 71.4% | 5/7 |
| Micrognathia | 28.6% | 2/7 |
| Thick vermilion border | 28.6% | 2/7 |
| Hypodontia | 14.3% | 1/7 |
| Long philtrum | 14.3% | 1/7 |
| Smooth philtrum | 14.3% | 1/7 |
| Thin upper lip vermilion | 14.3% | 1/7 |
| Widely spaced teeth | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal hearing | 80.0% | 4/5 |
| Bilateral sensorineural hearing impairment | 40.0% | 2/5 |
| Hearing impairment | 20.0% | 1/5 |
| Mild neurosensory hearing impairment | 20.0% | 1/5 |
| Abnormal vision | 83.3% | 5/6 |
| Cataract | 50.0% | 3/6 |
| Pigmentary retinopathy | 33.3% | 2/6 |
| Strabismus | 33.3% | 2/6 |
| Astigmatism | 16.7% | 1/6 |
| Congenital cataract | 16.7% | 1/6 |
| Optic disc pallor | 16.7% | 1/6 |
| Heart | ||
| Abnormality of the heart | 80.0% | 4/5 |
| Heart murmur | 40.0% | 2/5 |
| Persistent left superior vena cava | 40.0% | 2/5 |
| Ventricular septal defect | 40.0% | 2/5 |
| Abnormality of the coronary sinus | 20.0% | 1/5 |
| Cardiomegaly | 20.0% | 1/5 |
| Patent foramen ovale | 20.0% | 1/5 |
| Perimembranous ventricular septal defect | 20.0% | 1/5 |
| Secundum atrial septal defect | 20.0% | 1/5 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 33.3% | 1/3 |
| Abnormality of the intrahepatic bile duct | 33.3% | 1/3 |
| Pancreatic hypoplasia | 33.3% | 1/3 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 3/6 |
| Hypospadias | 50.0% | 3/6 |
| Functional abnormality of the bladder | 16.7% | 1/6 |
| Hydronephrosis | 16.7% | 1/6 |
| Urinary retention | 16.7% | 1/6 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 1/2 |
| Short long bone | 50.0% | 1/2 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 4/4 |
| Hyperpigmentation of the skin | 75.0% | 3/4 |
| Dry skin | 50.0% | 2/4 |
| Eczema | 25.0% | 1/4 |