IQSEC2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 10/20 |
| Female | 50.0% | 10/20 |
| Indifferent | 0% | 0/20 |
| Unknown | 0% | 0/20 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 18/18 |
| Gait ataxia | 22.2% | 4/18 |
| Generalized hypotonia | 22.2% | 4/18 |
| Generalized tonic-clonic seizures | 22.2% | 4/18 |
| Absence seizures | 16.7% | 3/18 |
| Ataxia | 16.7% | 3/18 |
| Focal seizures | 16.7% | 3/18 |
| Drooling | 11.1% | 2/18 |
| Myoclonus | 11.1% | 2/18 |
| Seizures | 11.1% | 2/18 |
| Absence seizures with special features | 5.6% | 1/18 |
| Autism | 5.6% | 1/18 |
| Broad-based gait | 5.6% | 1/18 |
| EEG abnormality | 5.6% | 1/18 |
| EEG with generalized epileptiform discharges | 5.6% | 1/18 |
| Epileptiform EEG discharges | 5.6% | 1/18 |
| Generalized myoclonic seizures | 5.6% | 1/18 |
| Generalized neonatal hypotonia | 5.6% | 1/18 |
| Hyperkinesis | 5.6% | 1/18 |
| Infantile muscular hypotonia | 5.6% | 1/18 |
| Infantile spasms | 5.6% | 1/18 |
| Intellectual disability, profound | 5.6% | 1/18 |
| Neonatal hypotonia | 5.6% | 1/18 |
| Paroxysmal dystonia | 5.6% | 1/18 |
| Photosensitive tonic-clonic seizures | 5.6% | 1/18 |
| Postnatal microcephaly | 5.6% | 1/18 |
| Status epilepticus | 5.6% | 1/18 |
| Stereotypical hand wringing | 5.6% | 1/18 |
| Strabismus | 5.6% | 1/18 |
| Toe walking | 5.6% | 1/18 |
| Upper limb spasticity | 5.6% | 1/18 |
| Behavioral problems | 88.9% | 16/18 |
| Stereotypic behavior | 55.6% | 10/18 |
| Autism | 22.2% | 4/18 |
| Stereotypical hand wringing | 22.2% | 4/18 |
| Abnormal aggressive, impulsive or violent behavior | 16.7% | 3/18 |
| Drooling | 16.7% | 3/18 |
| Autistic behavior | 11.1% | 2/18 |
| Bruxism | 11.1% | 2/18 |
| Inappropriate laughter | 11.1% | 2/18 |
| Inappropriate crying | 11.1% | 2/18 |
| Overfriendliness | 11.1% | 2/18 |
| Poor eye contact | 11.1% | 2/18 |
| Self-injurious behavior | 11.1% | 2/18 |
| Anxiety | 5.6% | 1/18 |
| Attention deficit hyperactivity disorder | 5.6% | 1/18 |
| Behavioral abnormality | 5.6% | 1/18 |
| Delayed social development | 5.6% | 1/18 |
| Happy demeanor | 5.6% | 1/18 |
| Paroxysmal bursts of laughter | 5.6% | 1/18 |
| Recurrent hand flapping | 5.6% | 1/18 |
| Restrictive behavior | 5.6% | 1/18 |
| Self-biting | 5.6% | 1/18 |
| Sleep disturbance | 5.6% | 1/18 |
| Unsteady gait | 5.6% | 1/18 |
| Brain abnormality | 35.7% | 5/14 |
| Cerebral atrophy | 14.3% | 2/14 |
| Abnormality of the periventricular white matter | 7.1% | 1/14 |
| Brain atrophy | 7.1% | 1/14 |
| Cerebral hypomyelination | 7.1% | 1/14 |
| Hypoplasia of the frontal lobes | 7.1% | 1/14 |
| Intracranial cystic lesion | 7.1% | 1/14 |
| Facial abnormalities | ||
| Abnormality of the ear | 5.0% | 1/20 |
| Thickened helices | 5.0% | 1/20 |
| Abnormality of the eye | 40.0% | 8/20 |
| Strabismus | 25.0% | 5/20 |
| Deeply set eye | 10.0% | 2/20 |
| Abnormality of the eyelid | 5.0% | 1/20 |
| Downslanted palpebral fissures | 5.0% | 1/20 |
| Upslanted palpebral fissure | 5.0% | 1/20 |
| Abnormality of the mouth | 30.0% | 6/20 |
| Thick vermilion border | 20.0% | 4/20 |
| Wide mouth | 15.0% | 3/20 |
| Short philtrum | 10.0% | 2/20 |
| Long philtrum | 5.0% | 1/20 |
| Tented upper lip vermilion | 5.0% | 1/20 |
| Visual and hearing impairments | ||
| Abnormal vision | 26.3% | 5/19 |
| Hypermetropia | 15.8% | 3/19 |
| Cortical visual impairment | 5.3% | 1/19 |
| Optic atrophy | 5.3% | 1/19 |
| Heart | ||
| Abnormality of the heart | 10.0% | 2/20 |
| Patent ductus arteriosus | 5.0% | 1/20 |
| Pulmonary artery stenosis | 5.0% | 1/20 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 50.0% | 10/20 |
| Constipation | 30.0% | 6/20 |
| Feeding difficulties | 30.0% | 6/20 |
| Gastroesophageal reflux | 15.0% | 3/20 |
| Abnormal eating behavior | 5.0% | 1/20 |
| Villous atrophy | 5.0% | 1/20 |
| Urogenital | ||
| Abnormality of the urogenital system | 5.0% | 1/20 |
| Urethral valve | 5.0% | 1/20 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 10/20 |
| Brachycephaly | 15.0% | 3/20 |
| Scoliosis | 15.0% | 3/20 |
| Narrow foot | 10.0% | 2/20 |
| Pes planus | 10.0% | 2/20 |
| Anterior plagiocephaly | 5.0% | 1/20 |
| Broad thumb | 5.0% | 1/20 |
| Camptodactyly | 5.0% | 1/20 |
| Clinodactyly | 5.0% | 1/20 |
| Kyphoscoliosis | 5.0% | 1/20 |
| Long fingers | 5.0% | 1/20 |
| Prominent metopic ridge | 5.0% | 1/20 |
| Slender finger | 5.0% | 1/20 |
| Slender toe | 5.0% | 1/20 |
| Small hand | 5.0% | 1/20 |
| Tapered finger | 5.0% | 1/20 |
| Thoracic kyphosis | 5.0% | 1/20 |
| Thoracic scoliosis | 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 | 35.0% | 7/20 |
| Eczema | 20.0% | 4/20 |
| Abnormality of the eyebrow | 10.0% | 2/20 |
| Abnormality of the toenails | 5.0% | 1/20 |
| Coarse facial features | 5.0% | 1/20 |
| Coarse hair | 5.0% | 1/20 |
| Horizontal eyebrow | 5.0% | 1/20 |
| Low anterior hairline | 5.0% | 1/20 |
| Low posterior hairline | 5.0% | 1/20 |
| Medial flaring of the eyebrow | 5.0% | 1/20 |
| Mottled pigmentation | 5.0% | 1/20 |
| Pallor | 5.0% | 1/20 |
| Sparse hair | 5.0% | 1/20 |
| Synophrys | 5.0% | 1/20 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 5.0% | 1/20 |
| Hypothermia | 5.0% | 1/20 |
| Neonatal hypoglycemia | 5.0% | 1/20 |