TBCK
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 65.2% | 15/23 |
| Female | 34.8% | 8/23 |
| Indifferent | 0% | 0/23 |
| Unknown | 0% | 0/23 |
| General | ||
| Birth Length abnormalities | 0% | 0/23 |
| Birth Weight abnormalities | 0% | 0/23 |
| Birth Head circumference abnormalities | 0% | 0/23 |
| Current Height abnormalities | 0% | 0/23 |
| Current Weight abnormalities | 0% | 0/23 |
| Current Head circumference abnormalities | 0% | 0/23 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 23/23 |
| Seizures | 52.2% | 12/23 |
| Severe muscular hypotonia | 39.1% | 9/23 |
| Areflexia | 34.8% | 8/23 |
| Neonatal hypotonia | 34.8% | 8/23 |
| Hyporeflexia | 26.1% | 6/23 |
| Progressive muscle weakness | 26.1% | 6/23 |
| Muscular hypotonia | 17.4% | 4/23 |
| Areflexia of lower limbs | 8.7% | 2/23 |
| Generalized hypotonia | 8.7% | 2/23 |
| Abnormality of eye movement | 4.3% | 1/23 |
| Global developmental delay | 4.3% | 1/23 |
| Behavioral problems | 50.0% | 3/6 |
| Autism | 16.7% | 1/6 |
| Behavioral abnormality | 16.7% | 1/6 |
| Bipolar affective disorder | 16.7% | 1/6 |
| Self-biting | 16.7% | 1/6 |
| Self-mutilation | 16.7% | 1/6 |
| Sleep disturbance | 16.7% | 1/6 |
| Stereotypic behavior | 16.7% | 1/6 |
| Brain abnormality | 88.9% | 16/18 |
| Global brain atrophy | 38.9% | 7/18 |
| Abnormality of the cerebral white matter | 33.3% | 6/18 |
| Abnormality of the corpus callosum | 33.3% | 6/18 |
| Abnormality of the periventricular white matter | 16.7% | 3/18 |
| Ventriculomegaly | 11.1% | 2/18 |
| Agenesis of corpus callosum | 5.6% | 1/18 |
| Aplasia/Hypoplasia of the brainstem | 5.6% | 1/18 |
| Cerebral white matter hypoplasia | 5.6% | 1/18 |
| Cerebral cortical atrophy | 5.6% | 1/18 |
| Periventricular leukomalacia | 5.6% | 1/18 |
| Facial abnormalities | ||
| Abnormality of the ear | 7.1% | 1/14 |
| Abnormality of earlobe | 7.1% | 1/14 |
| Abnormality of the eye | 40.0% | 6/15 |
| Thick eyebrow | 13.3% | 2/15 |
| Deeply set eye | 6.7% | 1/15 |
| Epicanthus | 6.7% | 1/15 |
| Long eyelashes | 6.7% | 1/15 |
| Prominent epicanthal folds | 6.7% | 1/15 |
| Synophrys | 6.7% | 1/15 |
| Upslanted palpebral fissure | 6.7% | 1/15 |
| Abnormality of the nose | 33.3% | 5/15 |
| Bulbous nose | 20.0% | 3/15 |
| Anteverted nares | 6.7% | 1/15 |
| Broad nasal tip | 6.7% | 1/15 |
| Short nose | 6.7% | 1/15 |
| Abnormality of the mouth | 66.7% | 10/15 |
| High palate | 20.0% | 3/15 |
| Tented upper lip vermilion | 20.0% | 3/15 |
| Macroglossia | 13.3% | 2/15 |
| Open mouth | 13.3% | 2/15 |
| Long philtrum | 6.7% | 1/15 |
| Mandibular prognathia | 6.7% | 1/15 |
| Thick lower lip vermilion | 6.7% | 1/15 |
| Thick upper lip vermilion | 6.7% | 1/15 |
| Wide mouth | 6.7% | 1/15 |
| Visual and hearing impairments | ||
| Abnormal hearing | 9.1% | 2/22 |
| Bilateral conductive hearing impairment | 4.5% | 1/22 |
| Hearing impairment | 4.5% | 1/22 |
| Abnormal vision | 9.1% | 2/22 |
| Corneal opacity | 4.5% | 1/22 |
| Nystagmus | 4.5% | 1/22 |
| Strabismus | 4.5% | 1/22 |
| Heart | ||
| Abnormality of the heart | 5.0% | 1/20 |
| Pulmonic stenosis | 5.0% | 1/20 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 5.0% | 1/20 |
| Gastroesophageal reflux | 5.0% | 1/20 |
| Urogenital | ||
| Abnormality of the urogenital system | 9.5% | 2/21 |
| Cryptorchidism | 4.8% | 1/21 |
| Neurogenic bladder | 4.8% | 1/21 |
| Skeleton | ||
| Skeletal abnormalities | 70.0% | 14/20 |
| Limb undergrowth | 30.0% | 6/20 |
| Osteoporosis | 25.0% | 5/20 |
| Scoliosis | 20.0% | 4/20 |
| Delayed skeletal maturation | 10.0% | 2/20 |
| Pectus excavatum | 10.0% | 2/20 |
| Broad finger | 5.0% | 1/20 |
| Clinodactyly | 5.0% | 1/20 |
| 11 pairs of ribs | 5.0% | 1/20 |
| 2-3 toe syndactyly | 5.0% | 1/20 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 14.3% | 3/21 |
| Hirsutism | 9.5% | 2/21 |
| Eczema | 4.8% | 1/21 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 25.0% | 1/4 |
| Central adrenal insufficiency | 25.0% | 1/4 |
| Growth hormone deficiency | 25.0% | 1/4 |
| Abnormality of the metabolic system | 62.5% | 5/8 |
| Hypothyroidism | 50.0% | 4/8 |
| Hyperthyroidism | 12.5% | 1/8 |