CLTC
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 63.3% | 19/30 |
| Female | 36.7% | 11/30 |
| Indifferent | 0% | 0/30 |
| Unknown | 0% | 0/30 |
| General | ||
| Birth Length abnormalities | 6.7% | 2/30 |
| < P3 : Birth length less than 3rd percentile | 6.7% | 2/30 |
| Birth Weight abnormalities | 16.7% | 5/30 |
| < P3 : Small for gestational age | 16.7% | 5/30 |
| Birth Head circumference abnormalities | 13.3% | 4/30 |
| < P3 : Congenital microcephaly | 13.3% | 4/30 |
| Current Height abnormalities | 16.7% | 5/30 |
| > P98 : Tall stature | 3.3% | 1/30 |
| < P3 : Short stature | 13.3% | 4/30 |
| Current Weight abnormalities | 26.7% | 8/30 |
| < P3 : Decreased body weight | 23.3% | 7/30 |
| > P98 : Increased body weight | 3.3% | 1/30 |
| Current Head circumference abnormalities | 33.3% | 10/30 |
| < P3 : Microcephaly | 30.0% | 9/30 |
| > P98 : Macrocephaly | 3.3% | 1/30 |
| Neurology | ||
| Neurological abnormalities | 84.6% | 22/26 |
| Generalized hypotonia | 38.5% | 10/26 |
| Ataxia | 15.4% | 4/26 |
| Absence seizures | 7.7% | 2/26 |
| Delayed speech and language development | 7.7% | 2/26 |
| EEG abnormality | 7.7% | 2/26 |
| Intellectual disability, moderate | 7.7% | 2/26 |
| Seizures | 7.7% | 2/26 |
| Absent speech | 3.8% | 1/26 |
| Broad-based gait | 3.8% | 1/26 |
| Central hypotonia | 3.8% | 1/26 |
| Delayed closure of the anterior fontanelle | 3.8% | 1/26 |
| Dystonia | 3.8% | 1/26 |
| Epileptic spasms | 3.8% | 1/26 |
| Episodic ataxia | 3.8% | 1/26 |
| Gait imbalance | 3.8% | 1/26 |
| Generalized seizures | 3.8% | 1/26 |
| Generalized tonic seizures | 3.8% | 1/26 |
| Global developmental delay | 3.8% | 1/26 |
| Hearing impairment | 3.8% | 1/26 |
| Horizontal nystagmus | 3.8% | 1/26 |
| Intellectual disability | 3.8% | 1/26 |
| Microcephaly | 3.8% | 1/26 |
| Oromotor apraxia | 3.8% | 1/26 |
| Poor fine motor coordination | 3.8% | 1/26 |
| Spastic gait | 3.8% | 1/26 |
| Specific learning disability | 3.8% | 1/26 |
| Tremor by anatomical site | 3.8% | 1/26 |
| Visual impairment | 3.8% | 1/26 |
| Behavioral problems | 62.1% | 18/29 |
| Attention deficit hyperactivity disorder | 13.8% | 4/29 |
| Anxiety | 10.3% | 3/29 |
| Autistic behavior | 10.3% | 3/29 |
| Behavioral abnormality | 10.3% | 3/29 |
| Autism | 6.9% | 2/29 |
| Fatigue | 6.9% | 2/29 |
| Self-injurious behavior | 6.9% | 2/29 |
| Short attention span | 6.9% | 2/29 |
| Sleep disturbance | 6.9% | 2/29 |
| Abnormal social behavior | 3.4% | 1/29 |
| Aggressive behavior | 3.4% | 1/29 |
| Depression | 3.4% | 1/29 |
| Difficulty walking | 3.4% | 1/29 |
| Emotional lability | 3.4% | 1/29 |
| Hyperactivity | 3.4% | 1/29 |
| Impaired social interactions | 3.4% | 1/29 |
| Low frustration tolerance | 3.4% | 1/29 |
| Restrictive behavior | 3.4% | 1/29 |
| Shyness | 3.4% | 1/29 |
| Sleep apnea | 3.4% | 1/29 |
| Stereotypical hand wringing | 3.4% | 1/29 |
| Brain abnormality | 70.8% | 17/24 |
| Hypoplasia of the corpus callosum | 25.0% | 6/24 |
| Cerebellar hypoplasia | 8.3% | 2/24 |
| Abnormality of the cerebral ventricles | 4.2% | 1/24 |
| Abnormality of the cerebellum | 4.2% | 1/24 |
| Abnormality of the periventricular white matter | 4.2% | 1/24 |
| Aplasia/Hypoplasia of the cerebral white matter | 4.2% | 1/24 |
| Arachnoid cyst | 4.2% | 1/24 |
| Asymmetric ventricles | 4.2% | 1/24 |
| Brain abscess | 4.2% | 1/24 |
| Brainstem dysplasia | 4.2% | 1/24 |
| Cavum septum pellucidum | 4.2% | 1/24 |
| Cerebellar atrophy | 4.2% | 1/24 |
| Cerebral ischemia | 4.2% | 1/24 |
| Cortical dysplasia | 4.2% | 1/24 |
| Diffuse cerebral atrophy | 4.2% | 1/24 |
| Dilation of lateral ventricles | 4.2% | 1/24 |
| EEG abnormality | 4.2% | 1/24 |
| Frontal cortical atrophy | 4.2% | 1/24 |
| Global brain atrophy | 4.2% | 1/24 |
| Microcephaly | 4.2% | 1/24 |
| Partial agenesis of the corpus callosum | 4.2% | 1/24 |
| Perivascular spaces | 4.2% | 1/24 |
| Periventricular leukomalacia | 4.2% | 1/24 |
| Periventricular cysts | 4.2% | 1/24 |
| Facial abnormalities | ||
| Abnormality of the ear | 30.0% | 6/20 |
| Abnormality of the outer ear | 5.0% | 1/20 |
| Large fleshy ears | 5.0% | 1/20 |
| Posteriorly rotated ears | 5.0% | 1/20 |
| Protruding ear | 5.0% | 1/20 |
| Abnormality of the eye | 42.1% | 8/19 |
| Upslanted palpebral fissure | 15.8% | 3/19 |
| Hypotelorism | 10.5% | 2/19 |
| Almond-shaped palpebral fissure | 5.3% | 1/19 |
| Blue irides | 5.3% | 1/19 |
| Blue sclerae | 5.3% | 1/19 |
| Hypermetropia | 5.3% | 1/19 |
| Long eyelashes | 5.3% | 1/19 |
| Long palpebral fissure | 5.3% | 1/19 |
| Thick eyebrow | 5.3% | 1/19 |
| Abnormality of the nose | 36.8% | 7/19 |
| Anteverted nares | 10.5% | 2/19 |
| Broad nasal tip | 5.3% | 1/19 |
| Bulbous nose | 5.3% | 1/19 |
| Convex nasal ridge | 5.3% | 1/19 |
| Long nose | 5.3% | 1/19 |
| Narrow nasal ridge | 5.3% | 1/19 |
| Narrow nose | 5.3% | 1/19 |
| Prominent nose | 5.3% | 1/19 |
| Wide nasal ridge | 5.3% | 1/19 |
| Abnormality of the mouth | 45.0% | 9/20 |
| High palate | 10.0% | 2/20 |
| Narrow palate | 10.0% | 2/20 |
| Smooth philtrum | 10.0% | 2/20 |
| Thin upper lip vermilion | 10.0% | 2/20 |
| Dental crowding | 5.0% | 1/20 |
| Gingival overgrowth | 5.0% | 1/20 |
| Macrodontia of permanent maxillary central incisor | 5.0% | 1/20 |
| Narrow mouth | 5.0% | 1/20 |
| Open mouth | 5.0% | 1/20 |
| Oromotor apraxia | 5.0% | 1/20 |
| Short uvula | 5.0% | 1/20 |
| Thick lower lip vermilion | 5.0% | 1/20 |
| Wide mouth | 5.0% | 1/20 |
| Visual and hearing impairments | ||
| Abnormal hearing | 14.3% | 4/28 |
| Hearing impairment | 10.7% | 3/28 |
| Mild hearing impairment | 3.6% | 1/28 |
| Abnormal vision | 46.4% | 13/28 |
| Strabismus | 14.3% | 4/28 |
| Hypermetropia | 10.7% | 3/28 |
| Abnormality of refraction | 7.1% | 2/28 |
| Cortical visual impairment | 7.1% | 2/28 |
| Abnormality of the optic nerve | 3.6% | 1/28 |
| Abnormality of vision | 3.6% | 1/28 |
| Astigmatism | 3.6% | 1/28 |
| Congenital strabismus | 3.6% | 1/28 |
| Myopia | 3.6% | 1/28 |
| Nystagmus | 3.6% | 1/28 |
| Poor eye contact | 3.6% | 1/28 |
| Heart | ||
| Abnormality of the heart | 4.5% | 1/22 |
| Bicuspid aortic valve | 4.5% | 1/22 |
| Pulmonary | ||
| Abnormality of the lungs | 7.1% | 1/14 |
| Asthma | 7.1% | 1/14 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 36.7% | 11/30 |
| Constipation | 13.3% | 4/30 |
| Feeding difficulties | 6.7% | 2/30 |
| Gastroesophageal reflux | 6.7% | 2/30 |
| Chronic diarrhea | 3.3% | 1/30 |
| Drooling | 3.3% | 1/30 |
| Feeding difficulties in infancy | 3.3% | 1/30 |
| Gastrointestinal dysmotility | 3.3% | 1/30 |
| Ileal atresia | 3.3% | 1/30 |
| Intestinal malrotation | 3.3% | 1/30 |
| Malnutrition | 3.3% | 1/30 |
| Ulcerative colitis | 3.3% | 1/30 |
| Urogenital | ||
| Abnormality of the urogenital system | 11.5% | 3/26 |
| Cryptorchidism | 3.8% | 1/26 |
| Menorrhagia | 3.8% | 1/26 |
| Nocturia | 3.8% | 1/26 |
| Shawl scrotum | 3.8% | 1/26 |
| Skeleton | ||
| Skeletal abnormalities | 53.6% | 15/28 |
| Pes planus | 10.7% | 3/28 |
| Broad hallux | 7.1% | 2/28 |
| Clinodactyly of the 5th finger | 7.1% | 2/28 |
| Joint laxity | 7.1% | 2/28 |
| Prominent fingertip pads | 7.1% | 2/28 |
| Scoliosis | 7.1% | 2/28 |
| Abnormality of the knees | 3.6% | 1/28 |
| Bifid ribs | 3.6% | 1/28 |
| Broad thumb | 3.6% | 1/28 |
| Delayed skeletal maturation | 3.6% | 1/28 |
| Finger joint hypermobility | 3.6% | 1/28 |
| Foot asymmetry | 3.6% | 1/28 |
| Generalized hypotonia | 3.6% | 1/28 |
| Hallux valgus | 3.6% | 1/28 |
| Hip dysplasia | 3.6% | 1/28 |
| Limitation of joint mobility | 3.6% | 1/28 |
| Long palm | 3.6% | 1/28 |
| Long fingers | 3.6% | 1/28 |
| Lower limb asymmetry | 3.6% | 1/28 |
| Narrow palm | 3.6% | 1/28 |
| Overlapping toe | 3.6% | 1/28 |
| Pectus excavatum | 3.6% | 1/28 |
| Positional foot deformity | 3.6% | 1/28 |
| Tapered finger | 3.6% | 1/28 |
| Toe syndactyly | 3.6% | 1/28 |
| 3-4 finger syndactyly | 3.6% | 1/28 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 16.0% | 4/25 |
| Facial erythema | 4.0% | 1/25 |
| Hypertrichosis | 4.0% | 1/25 |
| Irregular hyperpigmentation | 4.0% | 1/25 |
| Low anterior hairline | 4.0% | 1/25 |
| Low posterior hairline | 4.0% | 1/25 |
| Short nail | 4.0% | 1/25 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 5.3% | 1/19 |
| Hyperprolinemia | 5.3% | 1/19 |
| Abnormality of the immune system | 15.0% | 3/20 |
| Asthma | 5.0% | 1/20 |
| Recurrent infections | 5.0% | 1/20 |
| Recurrent otitis media | 5.0% | 1/20 |