CIC
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 64.3% | 18/28 |
| Female | 35.7% | 10/28 |
| Indifferent | 0% | 0/28 |
| Unknown | 0% | 0/28 |
| General | ||
| Birth Length abnormalities | 3.6% | 1/28 |
| > P98 : Birth length greater than 97th percentile | 3.6% | 1/28 |
| Birth Weight abnormalities | 3.6% | 1/28 |
| > P98 : Large for gestational age | 3.6% | 1/28 |
| Birth Head circumference abnormalities | 3.6% | 1/28 |
| > P98 : Macrocephaly at birth | 3.6% | 1/28 |
| Current Height abnormalities | 25.0% | 7/28 |
| > P98 : Tall stature | 10.7% | 3/28 |
| < P3 : Short stature | 14.3% | 4/28 |
| Current Weight abnormalities | 14.3% | 4/28 |
| > P98 : Increased body weight | 3.6% | 1/28 |
| < P3 : Decreased body weight | 10.7% | 3/28 |
| Current Head circumference abnormalities | 7.1% | 2/28 |
| > P98 : Macrocephaly | 3.6% | 1/28 |
| < P3 : Microcephaly | 3.6% | 1/28 |
| Neurology | ||
| Neurological abnormalities | 71.4% | 20/28 |
| Seizures | 21.4% | 6/28 |
| EEG abnormality | 14.3% | 4/28 |
| Cerebral palsy | 10.7% | 3/28 |
| EEG with generalized epileptiform discharges | 10.7% | 3/28 |
| Generalized hypotonia | 10.7% | 3/28 |
| Global developmental delay | 10.7% | 3/28 |
| Muscular hypotonia of the trunk | 10.7% | 3/28 |
| Absence seizures | 7.1% | 2/28 |
| Chorea | 7.1% | 2/28 |
| Febrile seizures | 7.1% | 2/28 |
| Appendicular hypotonia | 3.6% | 1/28 |
| Ataxia | 3.6% | 1/28 |
| Developmental regression | 3.6% | 1/28 |
| Diminished movement | 3.6% | 1/28 |
| Dystonia | 3.6% | 1/28 |
| EEG with spike-wave complexes | 3.6% | 1/28 |
| EEG with generalized slow activity | 3.6% | 1/28 |
| Epileptic encephalopathy | 3.6% | 1/28 |
| Focal seizures with impairment of consciousness or awareness | 3.6% | 1/28 |
| Focal tonic seizures | 3.6% | 1/28 |
| Gait disturbance | 3.6% | 1/28 |
| Generalized tonic-clonic seizures | 3.6% | 1/28 |
| Generalized myoclonic seizures | 3.6% | 1/28 |
| Hyperkinesis | 3.6% | 1/28 |
| Hyperreflexia | 3.6% | 1/28 |
| Lower limb hypertonia | 3.6% | 1/28 |
| Lower limb muscle weakness | 3.6% | 1/28 |
| Memory impairment | 3.6% | 1/28 |
| Multifocal epileptiform discharges | 3.6% | 1/28 |
| Myoclonus | 3.6% | 1/28 |
| Poor motor coordination | 3.6% | 1/28 |
| Postural instability | 3.6% | 1/28 |
| Behavioral problems | 78.6% | 22/28 |
| Autism | 32.1% | 9/28 |
| Attention deficit hyperactivity disorder | 28.6% | 8/28 |
| Sleep disturbance | 17.9% | 5/28 |
| Autistic behavior | 10.7% | 3/28 |
| Impaired social interactions | 10.7% | 3/28 |
| Stereotypic behavior | 10.7% | 3/28 |
| Aggressive behavior | 7.1% | 2/28 |
| Behavioral abnormality | 7.1% | 2/28 |
| Bipolar affective disorder | 7.1% | 2/28 |
| Hyperactivity | 7.1% | 2/28 |
| Psychosis | 7.1% | 2/28 |
| Abnormal social behavior | 3.6% | 1/28 |
| Abnormal emotion/affect behavior | 3.6% | 1/28 |
| Anxiety | 3.6% | 1/28 |
| Echolalia | 3.6% | 1/28 |
| Obsessive-compulsive behavior | 3.6% | 1/28 |
| Oppositional defiant disorder | 3.6% | 1/28 |
| Perseveration | 3.6% | 1/28 |
| Poor eye contact | 3.6% | 1/28 |
| Recurrent hand flapping | 3.6% | 1/28 |
| Restlessness | 3.6% | 1/28 |
| Self-injurious behavior | 3.6% | 1/28 |
| Short attention span | 3.6% | 1/28 |
| Shyness | 3.6% | 1/28 |
| Brain abnormality | 36.4% | 8/22 |
| Abnormality of the cerebral white matter | 9.1% | 2/22 |
| Multifocal cerebral white matter abnormalities | 9.1% | 2/22 |
| Abnormality of brain morphology | 4.5% | 1/22 |
| Abnormality of the corpus callosum | 4.5% | 1/22 |
| Cerebral calcification | 4.5% | 1/22 |
| Cerebellar hypoplasia | 4.5% | 1/22 |
| Delayed myelination | 4.5% | 1/22 |
| EEG with generalized polyspikes | 4.5% | 1/22 |
| EEG with spike-wave complexes (<2.5 Hz) | 4.5% | 1/22 |
| Focal white matter lesions | 4.5% | 1/22 |
| Grade I preterm intraventricular hemorrhage | 4.5% | 1/22 |
| Hypoplasia of the pons | 4.5% | 1/22 |
| Leukoencephalopathy | 4.5% | 1/22 |
| Periventricular leukomalacia | 4.5% | 1/22 |
| Ventriculomegaly | 4.5% | 1/22 |
| Facial abnormalities | ||
| Abnormality of the ear | 23.1% | 6/26 |
| Protruding ear | 11.5% | 3/26 |
| Attached earlobe | 3.8% | 1/26 |
| Low-set ears | 3.8% | 1/26 |
| Microtia | 3.8% | 1/26 |
| Preauricular pit | 3.8% | 1/26 |
| Thickened helices | 3.8% | 1/26 |
| Abnormality of the eye | 14.8% | 4/27 |
| Deeply set eye | 3.7% | 1/27 |
| Horizontal eyebrow | 3.7% | 1/27 |
| Hypotelorism | 3.7% | 1/27 |
| Long eyelashes | 3.7% | 1/27 |
| Ptosis | 3.7% | 1/27 |
| Strabismus | 3.7% | 1/27 |
| Synophrys | 3.7% | 1/27 |
| Abnormality of the nose | 19.2% | 5/26 |
| Broad nasal tip | 15.4% | 4/26 |
| Low hanging columella | 3.8% | 1/26 |
| Prominent nasal bridge | 3.8% | 1/26 |
| Underdeveloped nasal alae | 3.8% | 1/26 |
| Abnormality of the mouth | 19.2% | 5/26 |
| Thin upper lip vermilion | 7.7% | 2/26 |
| Everted upper lip vermilion | 3.8% | 1/26 |
| Narrow palate | 3.8% | 1/26 |
| Short philtrum | 3.8% | 1/26 |
| Thick lower lip vermilion | 3.8% | 1/26 |
| Unerupted tooth | 3.8% | 1/26 |
| Visual and hearing impairments | ||
| Abnormal hearing | 3.7% | 1/27 |
| Hearing abnormality | 3.7% | 1/27 |
| Abnormal vision | 29.6% | 8/27 |
| Abnormality of refraction | 7.4% | 2/27 |
| Cortical visual impairment | 3.7% | 1/27 |
| Exotropia | 3.7% | 1/27 |
| Hypermetropia | 3.7% | 1/27 |
| Myopia | 3.7% | 1/27 |
| Photophobia | 3.7% | 1/27 |
| Strabismus | 3.7% | 1/27 |
| Visual impairment | 3.7% | 1/27 |
| Heart | ||
| Abnormality of the heart | 18.5% | 5/27 |
| Arterial thrombosis | 3.7% | 1/27 |
| Atria septal defect | 3.7% | 1/27 |
| Bicuspid aortic valve | 3.7% | 1/27 |
| Heart murmur | 3.7% | 1/27 |
| Patent foramen ovale | 3.7% | 1/27 |
| Pulmonic stenosis | 3.7% | 1/27 |
| Pulmonary | ||
| Abnormality of the lungs | 7.4% | 2/27 |
| Asthma | 3.7% | 1/27 |
| Chronic lung disease | 3.7% | 1/27 |
| Respiratory distress | 3.7% | 1/27 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 35.7% | 10/28 |
| Feeding difficulties | 10.7% | 3/28 |
| Constipation | 7.1% | 2/28 |
| Gastrostomy tube feeding in infancy | 7.1% | 2/28 |
| Gastroesophageal reflux | 7.1% | 2/28 |
| Poor suck | 7.1% | 2/28 |
| Diarrhea | 3.6% | 1/28 |
| Diastasis recti | 3.6% | 1/28 |
| Dysphagia | 3.6% | 1/28 |
| Enterocolitis | 3.6% | 1/28 |
| Failure to thrive | 3.6% | 1/28 |
| Nasogastric tube feeding in infancy | 3.6% | 1/28 |
| Vomiting | 3.6% | 1/28 |
| Urogenital | ||
| Abnormality of the urogenital system | 7.4% | 2/27 |
| Acute kidney injury | 3.7% | 1/27 |
| Hypospadias | 3.7% | 1/27 |
| Vesicoureteral reflux | 3.7% | 1/27 |
| Skeleton | ||
| Skeletal abnormalities | 33.3% | 9/27 |
| Joint laxity | 14.8% | 4/27 |
| Pes planus | 7.4% | 2/27 |
| Scoliosis | 7.4% | 2/27 |
| Abnormality of toe | 3.7% | 1/27 |
| Accelerated skeletal maturation | 3.7% | 1/27 |
| Achilles tendon contracture | 3.7% | 1/27 |
| Arachnodactyly | 3.7% | 1/27 |
| Cubitus valgus | 3.7% | 1/27 |
| Pes cavus | 3.7% | 1/27 |
| Plagiocephaly | 3.7% | 1/27 |
| Slender build | 3.7% | 1/27 |
| Small hand | 3.7% | 1/27 |
| Talipes valgus | 3.7% | 1/27 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 25.9% | 7/27 |
| Telangiectasia | 7.4% | 2/27 |
| Abnormality of dental color | 3.7% | 1/27 |
| Abnormality of the skin of the palm | 3.7% | 1/27 |
| Alopecia | 3.7% | 1/27 |
| Cutis marmorata | 3.7% | 1/27 |
| Hemangioma | 3.7% | 1/27 |
| Hypoplastic fifth toenail | 3.7% | 1/27 |
| Short nail | 3.7% | 1/27 |
| Single transverse palmar crease | 3.7% | 1/27 |
| Skin rash | 3.7% | 1/27 |
| Sparse scalp hair | 3.7% | 1/27 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 3.7% | 1/27 |
| Premature pubarche | 3.7% | 1/27 |
| Abnormality of the metabolic system | 22.2% | 6/27 |
| Abnormality of metabolism/homeostasis | 7.4% | 2/27 |
| Neonatal hypoglycemia | 7.4% | 2/27 |
| Abnormality of folate metabolism | 3.7% | 1/27 |
| Jaundice | 3.7% | 1/27 |
| Prolonged neonatal jaundice | 3.7% | 1/27 |
| Vitamin D deficiency | 3.7% | 1/27 |
| Abnormality of the immune system | 11.1% | 3/27 |
| Autoimmune antibody positivity | 3.7% | 1/27 |
| Recurrent otitis media | 3.7% | 1/27 |
| Recurrent pneumonia | 3.7% | 1/27 |
| Severe viral infections | 3.7% | 1/27 |
| Neoplasia | ||
| Neoplasia | 7.4% | 2/27 |
| Pre-B-cell acute lymphoblastic leukemia | 7.4% | 2/27 |