CLTC
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 61.9% | 26/42 |
| Female | 38.1% | 16/42 |
| Indifferent | 0% | 0/42 |
| Unknown | 0% | 0/42 |
| General | ||
| Birth Length abnormalities | 4.8% | 2/42 |
| < P3 : Birth length less than 3rd percentile | 4.8% | 2/42 |
| Birth Weight abnormalities | 11.9% | 5/42 |
| < P3 : Small for gestational age | 11.9% | 5/42 |
| Birth Head circumference abnormalities | 9.5% | 4/42 |
| < P3 : Primary microcephaly | 9.5% | 4/42 |
| Current Height abnormalities | 16.7% | 7/42 |
| > P98 : Tall stature | 2.4% | 1/42 |
| < P3 : Short stature | 14.3% | 6/42 |
| Current Weight abnormalities | 19.0% | 8/42 |
| < P3 : Decreased body weight | 16.7% | 7/42 |
| > P98 : Increased body weight | 2.4% | 1/42 |
| Current Head circumference abnormalities | 28.6% | 12/42 |
| < P3 : Microcephaly | 26.2% | 11/42 |
| > P98 : Macrocephaly | 2.4% | 1/42 |
| Neurology | ||
| Neurological abnormalities | 87.2% | 34/39 |
| Generalized hypotonia | 25.6% | 10/39 |
| Hypotonia | 20.5% | 8/39 |
| Ataxia | 15.4% | 6/39 |
| Seizure | 15.4% | 6/39 |
| EEG abnormality | 12.8% | 5/39 |
| Myoclonus | 12.8% | 5/39 |
| Clumsiness | 10.3% | 4/39 |
| Gait disturbance | 7.7% | 3/39 |
| Generalized non-motor (absence) seizure | 7.7% | 3/39 |
| Oromotor apraxia | 7.7% | 3/39 |
| Bilateral tonic-clonic seizure | 5.1% | 2/39 |
| Broad-based gait | 5.1% | 2/39 |
| Delayed speech and language development | 5.1% | 2/39 |
| Dystonia | 5.1% | 2/39 |
| Generalized tonic seizure | 5.1% | 2/39 |
| Moderate intellectual disability | 5.1% | 2/39 |
| Poor fine motor coordination | 5.1% | 2/39 |
| Abnormal saccadic eye movements | 2.6% | 1/39 |
| Absent speech | 2.6% | 1/39 |
| Bradykinesia | 2.6% | 1/39 |
| Brisk reflexes | 2.6% | 1/39 |
| Cerebral palsy | 2.6% | 1/39 |
| Choreoathetosis | 2.6% | 1/39 |
| Delayed closure of the anterior fontanelle | 2.6% | 1/39 |
| Dysphagia | 2.6% | 1/39 |
| Easy fatigability | 2.6% | 1/39 |
| Epileptic spasm | 2.6% | 1/39 |
| Episodic ataxia | 2.6% | 1/39 |
| Febrile seizure (within the age range of 3 months to 6 years) | 2.6% | 1/39 |
| Focal aware seizure | 2.6% | 1/39 |
| Frequent falls | 2.6% | 1/39 |
| Gait imbalance | 2.6% | 1/39 |
| Generalized-onset seizure | 2.6% | 1/39 |
| Global developmental delay | 2.6% | 1/39 |
| Hearing impairment | 2.6% | 1/39 |
| Hoarse voice | 2.6% | 1/39 |
| Horizontal nystagmus | 2.6% | 1/39 |
| Hypokinesia | 2.6% | 1/39 |
| Hypomimic face | 2.6% | 1/39 |
| Hyporeflexia | 2.6% | 1/39 |
| Intellectual disability | 2.6% | 1/39 |
| Lower limb spasticity | 2.6% | 1/39 |
| Lower limb muscle weakness | 2.6% | 1/39 |
| Microcephaly | 2.6% | 1/39 |
| Muscle stiffness | 2.6% | 1/39 |
| Neonatal hypotonia | 2.6% | 1/39 |
| obsolete Central hypotonia | 2.6% | 1/39 |
| Poor gross motor coordination | 2.6% | 1/39 |
| Progressive spasticity | 2.6% | 1/39 |
| Reduced tendon reflexes | 2.6% | 1/39 |
| Rigidity | 2.6% | 1/39 |
| Slurred speech | 2.6% | 1/39 |
| Spastic gait | 2.6% | 1/39 |
| Spasticity | 2.6% | 1/39 |
| Specific learning disability | 2.6% | 1/39 |
| Syringomyelia | 2.6% | 1/39 |
| Tremor by anatomical site | 2.6% | 1/39 |
| Tremor | 2.6% | 1/39 |
| Truncal ataxia | 2.6% | 1/39 |
| Visual impairment | 2.6% | 1/39 |
| Behavioral problems | 70.0% | 28/40 |
| Anxiety | 12.5% | 5/40 |
| Attention deficit hyperactivity disorder | 12.5% | 5/40 |
| Aggressive behavior | 10.0% | 4/40 |
| Atypical behavior | 10.0% | 4/40 |
| Short attention span | 10.0% | 4/40 |
| Autistic behavior | 7.5% | 3/40 |
| obsolete Impaired social interactions | 7.5% | 3/40 |
| Sleep disturbance | 7.5% | 3/40 |
| Absent speech | 5.0% | 2/40 |
| Autism | 5.0% | 2/40 |
| Compulsive behaviors | 5.0% | 2/40 |
| Fatigue | 5.0% | 2/40 |
| Hyperactivity | 5.0% | 2/40 |
| Self-injurious behavior | 5.0% | 2/40 |
| Abnormal social behavior | 2.5% | 1/40 |
| Depression | 2.5% | 1/40 |
| Emotional lability | 2.5% | 1/40 |
| Excessive shyness | 2.5% | 1/40 |
| Impulsivity | 2.5% | 1/40 |
| Low frustration tolerance | 2.5% | 1/40 |
| obsolete Difficulty walking | 2.5% | 1/40 |
| Perseverative thought | 2.5% | 1/40 |
| Reduced social responsiveness | 2.5% | 1/40 |
| Restrictive behavior | 2.5% | 1/40 |
| Sleep apnea | 2.5% | 1/40 |
| Brain abnormality | 63.6% | 21/33 |
| Hypoplasia of the corpus callosum | 21.2% | 7/33 |
| Abnormal cerebral ventricle morphology | 6.1% | 2/33 |
| Abnormal cerebral white matter morphology | 6.1% | 2/33 |
| Cerebellar hypoplasia | 6.1% | 2/33 |
| Delayed CNS myelination | 6.1% | 2/33 |
| Dilation of Virchow-Robin spaces | 6.1% | 2/33 |
| Abnormal corpus callosum morphology | 3.0% | 1/33 |
| Abnormal cerebellum morphology | 3.0% | 1/33 |
| Abnormal periventricular white matter morphology | 3.0% | 1/33 |
| Aplasia/Hypoplasia of the cerebral white matter | 3.0% | 1/33 |
| Aplasia/Hypoplasia of the cerebellum | 3.0% | 1/33 |
| Arachnoid cyst | 3.0% | 1/33 |
| Benign neoplasm of the central nervous system | 3.0% | 1/33 |
| Brainstem dysplasia | 3.0% | 1/33 |
| Brain abscess | 3.0% | 1/33 |
| Cavum septum pellucidum | 3.0% | 1/33 |
| Cerebral ischemia | 3.0% | 1/33 |
| Cerebellar atrophy | 3.0% | 1/33 |
| Cerebral hypomyelination | 3.0% | 1/33 |
| Cortical dysplasia | 3.0% | 1/33 |
| Diffuse cerebral atrophy | 3.0% | 1/33 |
| EEG abnormality | 3.0% | 1/33 |
| Frontal cortical atrophy | 3.0% | 1/33 |
| Global brain atrophy | 3.0% | 1/33 |
| Lateral ventricular asymmetry | 3.0% | 1/33 |
| Lateral ventricle dilatation | 3.0% | 1/33 |
| Microcephaly | 3.0% | 1/33 |
| Periventricular leukomalacia | 3.0% | 1/33 |
| Periventricular cysts | 3.0% | 1/33 |
| Pontocerebellar atrophy | 3.0% | 1/33 |
| Short corpus callosum | 3.0% | 1/33 |
| Facial abnormalities | ||
| Abnormality of the ear | 21.9% | 7/32 |
| Abnormality of the outer ear | 3.1% | 1/32 |
| Glue ear | 3.1% | 1/32 |
| Posteriorly rotated ears | 3.1% | 1/32 |
| Prominent ear helix | 3.1% | 1/32 |
| Protruding ear | 3.1% | 1/32 |
| Abnormality of the eye | 38.7% | 12/31 |
| Upslanted palpebral fissure | 16.1% | 5/31 |
| Hypotelorism | 6.5% | 2/31 |
| Almond-shaped palpebral fissure | 3.2% | 1/31 |
| Blue sclerae | 3.2% | 1/31 |
| Blue irides | 3.2% | 1/31 |
| Epicanthus | 3.2% | 1/31 |
| Hypermetropia | 3.2% | 1/31 |
| Long eyelashes | 3.2% | 1/31 |
| Long palpebral fissure | 3.2% | 1/31 |
| Periorbital hyperpigmentation | 3.2% | 1/31 |
| Periorbital fullness | 3.2% | 1/31 |
| Ptosis | 3.2% | 1/31 |
| Thick eyebrow | 3.2% | 1/31 |
| Abnormality of the nose | 25.8% | 8/31 |
| Broad nasal tip | 6.5% | 2/31 |
| Bulbous nose | 6.5% | 2/31 |
| Long nose | 6.5% | 2/31 |
| Anteverted nares | 3.2% | 1/31 |
| Convex nasal ridge | 3.2% | 1/31 |
| Narrow nasal ridge | 3.2% | 1/31 |
| Narrow nose | 3.2% | 1/31 |
| Prominent nose | 3.2% | 1/31 |
| Wide nasal ridge | 3.2% | 1/31 |
| Abnormality of the mouth | 43.8% | 14/32 |
| High palate | 9.4% | 3/32 |
| Thin upper lip vermilion | 9.4% | 3/32 |
| Wide mouth | 9.4% | 3/32 |
| Narrow palate | 6.3% | 2/32 |
| Smooth philtrum | 6.3% | 2/32 |
| Dental crowding | 3.1% | 1/32 |
| Gingival overgrowth | 3.1% | 1/32 |
| Incisor macrodontia | 3.1% | 1/32 |
| Macrodontia | 3.1% | 1/32 |
| Macrodontia of permanent maxillary central incisor | 3.1% | 1/32 |
| Microretrognathia | 3.1% | 1/32 |
| Micrognathia | 3.1% | 1/32 |
| Open mouth | 3.1% | 1/32 |
| Oromotor apraxia | 3.1% | 1/32 |
| Short lingual frenulum | 3.1% | 1/32 |
| Short uvula | 3.1% | 1/32 |
| Tented upper lip vermilion | 3.1% | 1/32 |
| Thick lower lip vermilion | 3.1% | 1/32 |
| Visual and hearing impairments | ||
| Abnormal hearing | 12.5% | 5/40 |
| Hearing impairment | 7.5% | 3/40 |
| Mild hearing impairment | 2.5% | 1/40 |
| Sensorineural hearing impairment | 2.5% | 1/40 |
| Abnormal vision | 35.0% | 14/40 |
| Strabismus | 12.5% | 5/40 |
| Cerebral visual impairment | 7.5% | 3/40 |
| Abnormality of refraction | 5.0% | 2/40 |
| Hypermetropia | 5.0% | 2/40 |
| Abnormality of vision | 2.5% | 1/40 |
| Abnormal optic nerve morphology | 2.5% | 1/40 |
| Astigmatism | 2.5% | 1/40 |
| Myopia | 2.5% | 1/40 |
| Nystagmus | 2.5% | 1/40 |
| Photophobia | 2.5% | 1/40 |
| Reduced eye contact | 2.5% | 1/40 |
| Heart | ||
| Abnormality of the heart | 5.9% | 2/34 |
| Bicuspid aortic valve | 2.9% | 1/34 |
| Left ventricular noncompaction | 2.9% | 1/34 |
| Pulmonary | ||
| Abnormality of the lungs | 3.8% | 1/26 |
| Obstructive sleep apnea | 3.8% | 1/26 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 35.7% | 15/42 |
| Gastroesophageal reflux | 14.3% | 6/42 |
| Constipation | 11.9% | 5/42 |
| Feeding difficulties | 4.8% | 2/42 |
| Drooling | 2.4% | 1/42 |
| Feeding difficulties in infancy | 2.4% | 1/42 |
| Gastrointestinal dysmotility | 2.4% | 1/42 |
| Ileal atresia | 2.4% | 1/42 |
| Intestinal malrotation | 2.4% | 1/42 |
| Malnutrition | 2.4% | 1/42 |
| Ulcerative colitis | 2.4% | 1/42 |
| Urogenital | ||
| Abnormality of the urogenital system | 10.5% | 4/38 |
| Cryptorchidism | 2.6% | 1/38 |
| Dilatation of the renal pelvis | 2.6% | 1/38 |
| Menorrhagia | 2.6% | 1/38 |
| Nocturia | 2.6% | 1/38 |
| Shawl scrotum | 2.6% | 1/38 |
| Skeleton | ||
| Skeletal abnormalities | 45.0% | 18/40 |
| Pes planus | 10.0% | 4/40 |
| Clinodactyly of the 5th finger | 7.5% | 3/40 |
| Scoliosis | 7.5% | 3/40 |
| Broad hallux | 5.0% | 2/40 |
| Joint hypermobility | 5.0% | 2/40 |
| obsolete Joint laxity | 5.0% | 2/40 |
| Prominent fingertip pads | 5.0% | 2/40 |
| Abnormality of the knee | 2.5% | 1/40 |
| Bifid ribs | 2.5% | 1/40 |
| Broad thumb | 2.5% | 1/40 |
| Delayed skeletal maturation | 2.5% | 1/40 |
| Finger joint hypermobility | 2.5% | 1/40 |
| Foot asymmetry | 2.5% | 1/40 |
| Generalized hypotonia | 2.5% | 1/40 |
| Hallux valgus | 2.5% | 1/40 |
| Hip dysplasia | 2.5% | 1/40 |
| Kyphoscoliosis | 2.5% | 1/40 |
| Limitation of joint mobility | 2.5% | 1/40 |
| Long palm | 2.5% | 1/40 |
| Long fingers | 2.5% | 1/40 |
| Lower limb asymmetry | 2.5% | 1/40 |
| Narrow palm | 2.5% | 1/40 |
| Overlapping toe | 2.5% | 1/40 |
| Pectus excavatum | 2.5% | 1/40 |
| Positional foot deformity | 2.5% | 1/40 |
| Tapered finger | 2.5% | 1/40 |
| Toe syndactyly | 2.5% | 1/40 |
| 3-4 finger osseus syndactyly | 2.5% | 1/40 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 16.2% | 6/37 |
| Abnormal hair pattern | 2.7% | 1/37 |
| Coarse hair | 2.7% | 1/37 |
| Facial erythema | 2.7% | 1/37 |
| Hypertrichosis | 2.7% | 1/37 |
| Irregular hyperpigmentation | 2.7% | 1/37 |
| Low anterior hairline | 2.7% | 1/37 |
| Low posterior hairline | 2.7% | 1/37 |
| Short nail | 2.7% | 1/37 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 3.3% | 1/30 |
| Hyperprolinemia | 3.3% | 1/30 |
| Abnormality of the immune system | 12.9% | 4/31 |
| Aspiration pneumonia | 3.2% | 1/31 |
| Asthma | 3.2% | 1/31 |
| Recurrent infections | 3.2% | 1/31 |
| Recurrent otitis media | 3.2% | 1/31 |