GNB1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 40.0% | 2/5 |
| Female | 60.0% | 3/5 |
| Indifferent | 0% | 0/5 |
| Unknown | 0% | 0/5 |
| General | ||
| Birth Length abnormalities | 50.0% | 2/4 |
| < P3 : Birth length less than 3rd percentile | 50.0% | 2/4 |
| Birth Weight abnormalities | 50.0% | 2/4 |
| < P3 : Small for gestational age | 50.0% | 2/4 |
| Birth Head circumference abnormalities | 0% | 0/4 |
| Current Height abnormalities | 20.0% | 1/5 |
| < P3 : Short stature | 20.0% | 1/5 |
| Current Weight abnormalities | 20.0% | 1/5 |
| < P3 : Decreased body weight | 20.0% | 1/5 |
| Current Head circumference abnormalities | 0% | 0/5 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 5/5 |
| Central hypotonia | 40.0% | 2/5 |
| Abnormal muscle tone | 20.0% | 1/5 |
| Craniofacial dystonia | 20.0% | 1/5 |
| EEG with generalized epileptiform discharges | 20.0% | 1/5 |
| Focal motor seizures | 20.0% | 1/5 |
| Generalized tonic seizures | 20.0% | 1/5 |
| Irritability | 20.0% | 1/5 |
| Spastic tetraplegia | 20.0% | 1/5 |
| Behavioral problems | 50.0% | 1/2 |
| Autism | 50.0% | 1/2 |
| Echolalia | 50.0% | 1/2 |
| Impaired use of nonverbal behaviors | 50.0% | 1/2 |
| Low frustration tolerance | 50.0% | 1/2 |
| Brain abnormality | 80.0% | 4/5 |
| Abnormality of the cerebral white matter | 40.0% | 2/5 |
| Aplasia of the inferior half of the cerebellar vermis | 20.0% | 1/5 |
| Cerebral hypoplasia | 20.0% | 1/5 |
| Dilation of lateral ventricles | 20.0% | 1/5 |
| Dilated third ventricle | 20.0% | 1/5 |
| Ventriculomegaly | 20.0% | 1/5 |
| Facial abnormalities | ||
| Abnormality of the ear | 40.0% | 2/5 |
| Abnormal location of ears | 20.0% | 1/5 |
| Large fleshy ears | 20.0% | 1/5 |
| Abnormality of the eye | 60.0% | 3/5 |
| Large eyes | 40.0% | 2/5 |
| Blindness | 20.0% | 1/5 |
| Abnormality of the nose | 20.0% | 1/5 |
| Depressed nasal tip | 20.0% | 1/5 |
| Abnormality of the mouth | 40.0% | 2/5 |
| Micrognathia | 20.0% | 1/5 |
| Tented upper lip vermilion | 20.0% | 1/5 |
| Visual and hearing impairments | ||
| Abnormal hearing | 33.3% | 1/3 |
| Unilateral deafness | 33.3% | 1/3 |
| Abnormal vision | 60.0% | 3/5 |
| Blindness | 20.0% | 1/5 |
| Glaucoma | 20.0% | 1/5 |
| Horizontal nystagmus | 20.0% | 1/5 |
| Retinopathy | 20.0% | 1/5 |
| Vertical nystagmus | 20.0% | 1/5 |
| Heart | ||
| Abnormality of the heart | 20.0% | 1/5 |
| Abnormality of the ventricular septum | 20.0% | 1/5 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 5/5 |
| Gastroesophageal reflux | 60.0% | 3/5 |
| Failure to thrive | 40.0% | 2/5 |
| Abdominal colic | 20.0% | 1/5 |
| Acute constipation | 20.0% | 1/5 |
| Chronic constipation | 20.0% | 1/5 |
| Constipation | 20.0% | 1/5 |
| Episodic vomiting | 20.0% | 1/5 |
| Feeding difficulties | 20.0% | 1/5 |
| Poor appetite | 20.0% | 1/5 |
| Vomiting | 20.0% | 1/5 |
| Urogenital | ||
| Abnormality of the urogenital system | 40.0% | 2/5 |
| Bifid scrotum | 20.0% | 1/5 |
| Hydrocele testis | 20.0% | 1/5 |
| Hypospadias | 20.0% | 1/5 |
| Partially duplicated kidney | 20.0% | 1/5 |
| Skeleton | ||
| Skeletal abnormalities | 20.0% | 1/5 |
| Posterior plagiocephaly | 20.0% | 1/5 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 40.0% | 2/5 |
| Cutis marmorata | 20.0% | 1/5 |
| Sparse anterior scalp hair | 20.0% | 1/5 |
| Umbilical hernia | 20.0% | 1/5 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 25.0% | 1/4 |
| Severe recurrent varicella | 25.0% | 1/4 |