CLTC
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 60.0% | 12/20 |
| Female | 40.0% | 8/20 |
| Indifferent | 0% | 0/20 |
| Unknown | 0% | 0/20 |
| Neurology | ||
| Neurological abnormalities | 88.2% | 15/17 |
| Generalized hypotonia | 47.1% | 8/17 |
| Ataxia | 23.5% | 4/17 |
| Absence seizures | 11.8% | 2/17 |
| EEG abnormality | 11.8% | 2/17 |
| Seizures | 11.8% | 2/17 |
| Absent speech | 5.9% | 1/17 |
| Central hypotonia | 5.9% | 1/17 |
| Delayed speech and language development | 5.9% | 1/17 |
| Epileptic spasms | 5.9% | 1/17 |
| Generalized tonic seizures | 5.9% | 1/17 |
| Generalized seizures | 5.9% | 1/17 |
| Global developmental delay | 5.9% | 1/17 |
| Hearing impairment | 5.9% | 1/17 |
| Horizontal nystagmus | 5.9% | 1/17 |
| Intellectual disability | 5.9% | 1/17 |
| Intellectual disability, moderate | 5.9% | 1/17 |
| Oromotor apraxia | 5.9% | 1/17 |
| Spastic gait | 5.9% | 1/17 |
| Specific learning disability | 5.9% | 1/17 |
| Visual impairment | 5.9% | 1/17 |
| Behavioral problems | 55.0% | 11/20 |
| Attention deficit hyperactivity disorder | 20.0% | 4/20 |
| Behavioral abnormality | 15.0% | 3/20 |
| Autism | 10.0% | 2/20 |
| Fatigue | 10.0% | 2/20 |
| Self-injurious behavior | 10.0% | 2/20 |
| Sleep disturbance | 10.0% | 2/20 |
| Abnormal social behavior | 5.0% | 1/20 |
| Aggressive behavior | 5.0% | 1/20 |
| Anxiety | 5.0% | 1/20 |
| Autistic behavior | 5.0% | 1/20 |
| Depression | 5.0% | 1/20 |
| Difficulty walking | 5.0% | 1/20 |
| Impaired social interactions | 5.0% | 1/20 |
| Restrictive behavior | 5.0% | 1/20 |
| Sleep apnea | 5.0% | 1/20 |
| Brain abnormality | 75.0% | 12/16 |
| Hypoplasia of the corpus callosum | 37.5% | 6/16 |
| Abnormality of the cerebral ventricles | 6.3% | 1/16 |
| Abnormality of the periventricular white matter | 6.3% | 1/16 |
| Aplasia/Hypoplasia of the cerebral white matter | 6.3% | 1/16 |
| Arachnoid cyst | 6.3% | 1/16 |
| Asymmetric ventricles | 6.3% | 1/16 |
| Brain abscess | 6.3% | 1/16 |
| Brainstem dysplasia | 6.3% | 1/16 |
| Cavum septum pellucidum | 6.3% | 1/16 |
| Cerebellar atrophy | 6.3% | 1/16 |
| Cerebellar hypoplasia | 6.3% | 1/16 |
| Cortical dysplasia | 6.3% | 1/16 |
| Diffuse cerebral atrophy | 6.3% | 1/16 |
| Dilation of lateral ventricles | 6.3% | 1/16 |
| EEG abnormality | 6.3% | 1/16 |
| Frontal cortical atrophy | 6.3% | 1/16 |
| Global brain atrophy | 6.3% | 1/16 |
| Microcephaly | 6.3% | 1/16 |
| Perivascular spaces | 6.3% | 1/16 |
| Periventricular leukomalacia | 6.3% | 1/16 |
| Periventricular cysts | 6.3% | 1/16 |
| Facial abnormalities | ||
| Abnormality of the ear | 20.0% | 2/10 |
| Abnormality of the outer ear | 10.0% | 1/10 |
| Abnormality of the eye | 33.3% | 3/9 |
| Hypermetropia | 11.1% | 1/9 |
| Hypotelorism | 11.1% | 1/9 |
| Long palpebral fissure | 11.1% | 1/9 |
| Thick eyebrow | 11.1% | 1/9 |
| Abnormality of the nose | 22.2% | 2/9 |
| Anteverted nares | 11.1% | 1/9 |
| Broad nasal tip | 11.1% | 1/9 |
| Wide nasal ridge | 11.1% | 1/9 |
| Abnormality of the mouth | 40.0% | 4/10 |
| Gingival overgrowth | 10.0% | 1/10 |
| High palate | 10.0% | 1/10 |
| Narrow palate | 10.0% | 1/10 |
| Open mouth | 10.0% | 1/10 |
| Oromotor apraxia | 10.0% | 1/10 |
| Smooth philtrum | 10.0% | 1/10 |
| Thick lower lip vermilion | 10.0% | 1/10 |
| Thin upper lip vermilion | 10.0% | 1/10 |
| Visual and hearing impairments | ||
| Abnormal hearing | 21.1% | 4/19 |
| Hearing impairment | 15.8% | 3/19 |
| Mild hearing impairment | 5.3% | 1/19 |
| Abnormal vision | 52.6% | 10/19 |
| Strabismus | 21.1% | 4/19 |
| Abnormality of refraction | 10.5% | 2/19 |
| Abnormality of the optic nerve | 5.3% | 1/19 |
| Abnormality of vision | 5.3% | 1/19 |
| Astigmatism | 5.3% | 1/19 |
| Cortical visual impairment | 5.3% | 1/19 |
| Hypermetropia | 5.3% | 1/19 |
| Myopia | 5.3% | 1/19 |
| Nystagmus | 5.3% | 1/19 |
| Poor eye contact | 5.3% | 1/19 |
| Heart | ||
| Abnormality of the heart | 7.7% | 1/13 |
| Bicuspid aortic valve | 7.7% | 1/13 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 40.0% | 8/20 |
| Constipation | 10.0% | 2/20 |
| Feeding difficulties | 10.0% | 2/20 |
| Gastroesophageal reflux | 10.0% | 2/20 |
| Drooling | 5.0% | 1/20 |
| Feeding difficulties in infancy | 5.0% | 1/20 |
| Gastrointestinal dysmotility | 5.0% | 1/20 |
| Ileal atresia | 5.0% | 1/20 |
| Intestinal malrotation | 5.0% | 1/20 |
| Malnutrition | 5.0% | 1/20 |
| Ulcerative colitis | 5.0% | 1/20 |
| Urogenital | ||
| Abnormality of the urogenital system | 18.8% | 3/16 |
| Cryptorchidism | 6.3% | 1/16 |
| Menorrhagia | 6.3% | 1/16 |
| Nocturia | 6.3% | 1/16 |
| Shawl scrotum | 6.3% | 1/16 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 9/18 |
| Pes planus | 16.7% | 3/18 |
| Broad hallux | 11.1% | 2/18 |
| Joint laxity | 11.1% | 2/18 |
| Prominent fingertip pads | 11.1% | 2/18 |
| Scoliosis | 11.1% | 2/18 |
| Abnormality of the knees | 5.6% | 1/18 |
| Bifid ribs | 5.6% | 1/18 |
| Broad thumb | 5.6% | 1/18 |
| Hallux valgus | 5.6% | 1/18 |
| Hip dysplasia | 5.6% | 1/18 |
| Limitation of joint mobility | 5.6% | 1/18 |
| Long palm | 5.6% | 1/18 |
| Narrow palm | 5.6% | 1/18 |
| Overlapping toe | 5.6% | 1/18 |
| Positional foot deformity | 5.6% | 1/18 |
| Tapered finger | 5.6% | 1/18 |
| Toe syndactyly | 5.6% | 1/18 |
| 3-4 finger syndactyly | 5.6% | 1/18 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 20.0% | 3/15 |
| Facial erythema | 6.7% | 1/15 |
| Irregular hyperpigmentation | 6.7% | 1/15 |
| Short nail | 6.7% | 1/15 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 10.0% | 1/10 |
| Hyperprolinemia | 10.0% | 1/10 |
| Abnormality of the immune system | 25.0% | 3/12 |
| Asthma | 8.3% | 1/12 |
| Recurrent infections | 8.3% | 1/12 |
| Recurrent otitis media | 8.3% | 1/12 |