IQSEC2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 10/20 |
| Female | 50.0% | 10/20 |
| Indifferent | 0% | 0/20 |
| Unknown | 0% | 0/20 |
| General | ||
| Birth Length abnormalities | 0% | 0/19 |
| Birth Weight abnormalities | 0% | 0/19 |
| Birth Head circumference abnormalities | 10.5% | 2/19 |
| < P3 : Primary microcephaly | 10.5% | 2/19 |
| Current Height abnormalities | 10.5% | 2/19 |
| > P98 : Tall stature | 5.3% | 1/19 |
| < P3 : Short stature | 5.3% | 1/19 |
| Current Weight abnormalities | 10.5% | 2/19 |
| > P98 : Increased body weight | 10.5% | 2/19 |
| Current Head circumference abnormalities | 47.4% | 9/19 |
| < P3 : Microcephaly | 47.4% | 9/19 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 17/17 |
| Bilateral tonic-clonic seizure | 23.5% | 4/17 |
| Gait ataxia | 23.5% | 4/17 |
| Generalized hypotonia | 23.5% | 4/17 |
| Ataxia | 17.6% | 3/17 |
| Focal-onset seizure | 17.6% | 3/17 |
| Generalized non-motor (absence) seizure | 17.6% | 3/17 |
| Drooling | 11.8% | 2/17 |
| Myoclonus | 11.8% | 2/17 |
| Seizure | 11.8% | 2/17 |
| Autism | 5.9% | 1/17 |
| Broad-based gait | 5.9% | 1/17 |
| EEG abnormality | 5.9% | 1/17 |
| Floppy infant | 5.9% | 1/17 |
| Generalized myoclonic seizure | 5.9% | 1/17 |
| Generalized neonatal hypotonia | 5.9% | 1/17 |
| Hyperkinetic movements | 5.9% | 1/17 |
| Infantile spasms | 5.9% | 1/17 |
| Interictal epileptiform activity | 5.9% | 1/17 |
| Neonatal hypotonia | 5.9% | 1/17 |
| obsolete Toe walking | 5.9% | 1/17 |
| obsolete Absence seizures with special features | 5.9% | 1/17 |
| Paroxysmal dystonia | 5.9% | 1/17 |
| Photosensitive tonic-clonic seizure | 5.9% | 1/17 |
| Profound intellectual disability | 5.9% | 1/17 |
| Secondary microcephaly | 5.9% | 1/17 |
| Status epilepticus | 5.9% | 1/17 |
| Stereotypical hand wringing | 5.9% | 1/17 |
| Strabismus | 5.9% | 1/17 |
| Upper limb spasticity | 5.9% | 1/17 |
| Behavioral problems | 88.2% | 15/17 |
| Motor stereotypy | 58.8% | 10/17 |
| Autism | 17.6% | 3/17 |
| Drooling | 17.6% | 3/17 |
| Stereotypical hand wringing | 17.6% | 3/17 |
| Autistic behavior | 11.8% | 2/17 |
| Bruxism | 11.8% | 2/17 |
| Inappropriate crying | 11.8% | 2/17 |
| obsolete Abnormal aggressive, impulsive or violent behavior | 11.8% | 2/17 |
| Overfriendliness | 11.8% | 2/17 |
| Reduced eye contact | 11.8% | 2/17 |
| Self-injurious behavior | 11.8% | 2/17 |
| Anxiety | 5.9% | 1/17 |
| Attention deficit hyperactivity disorder | 5.9% | 1/17 |
| Atypical behavior | 5.9% | 1/17 |
| Delayed early-childhood social milestone development | 5.9% | 1/17 |
| Happy demeanor | 5.9% | 1/17 |
| Inappropriate laughter | 5.9% | 1/17 |
| Paroxysmal bursts of laughter | 5.9% | 1/17 |
| Recurrent hand flapping | 5.9% | 1/17 |
| Restrictive behavior | 5.9% | 1/17 |
| Self-biting | 5.9% | 1/17 |
| Sleep disturbance | 5.9% | 1/17 |
| Unsteady gait | 5.9% | 1/17 |
| Brain abnormality | 38.5% | 5/13 |
| Cerebral atrophy | 15.4% | 2/13 |
| Abnormal periventricular white matter morphology | 7.7% | 1/13 |
| Brain atrophy | 7.7% | 1/13 |
| Cerebral hypomyelination | 7.7% | 1/13 |
| Hypoplasia of the frontal lobes | 7.7% | 1/13 |
| Intracranial cystic lesion | 7.7% | 1/13 |
| Facial abnormalities | ||
| Abnormality of the ear | 5.3% | 1/19 |
| Thickened helices | 5.3% | 1/19 |
| Abnormality of the eye | 36.8% | 7/19 |
| Strabismus | 26.3% | 5/19 |
| Deeply set eye | 10.5% | 2/19 |
| Downslanted palpebral fissures | 5.3% | 1/19 |
| Upslanted palpebral fissure | 5.3% | 1/19 |
| Abnormality of the mouth | 26.3% | 5/19 |
| Thick vermilion border | 21.1% | 4/19 |
| Wide mouth | 15.8% | 3/19 |
| Short philtrum | 10.5% | 2/19 |
| Tented upper lip vermilion | 5.3% | 1/19 |
| Visual and hearing impairments | ||
| Abnormal vision | 27.8% | 5/18 |
| Hypermetropia | 16.7% | 3/18 |
| Cerebral visual impairment | 5.6% | 1/18 |
| Optic atrophy | 5.6% | 1/18 |
| Heart | ||
| Abnormality of the heart | 10.5% | 2/19 |
| Patent ductus arteriosus | 5.3% | 1/19 |
| Pulmonary artery stenosis | 5.3% | 1/19 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 47.4% | 9/19 |
| Constipation | 31.6% | 6/19 |
| Feeding difficulties | 26.3% | 5/19 |
| Gastroesophageal reflux | 15.8% | 3/19 |
| Abnormal eating behavior | 5.3% | 1/19 |
| Villous atrophy | 5.3% | 1/19 |
| Urogenital | ||
| Abnormality of the urogenital system | 5.3% | 1/19 |
| Urethral valve | 5.3% | 1/19 |
| Skeleton | ||
| Skeletal abnormalities | 52.6% | 10/19 |
| Brachycephaly | 15.8% | 3/19 |
| Scoliosis | 15.8% | 3/19 |
| Narrow foot | 10.5% | 2/19 |
| Pes planus | 10.5% | 2/19 |
| Anterior plagiocephaly | 5.3% | 1/19 |
| Broad thumb | 5.3% | 1/19 |
| Camptodactyly | 5.3% | 1/19 |
| Clinodactyly | 5.3% | 1/19 |
| Kyphoscoliosis | 5.3% | 1/19 |
| Long fingers | 5.3% | 1/19 |
| Prominent metopic ridge | 5.3% | 1/19 |
| Slender toe | 5.3% | 1/19 |
| Slender finger | 5.3% | 1/19 |
| Small hand | 5.3% | 1/19 |
| Tapered finger | 5.3% | 1/19 |
| Thoracic kyphosis | 5.3% | 1/19 |
| Thoracic scoliosis | 5.3% | 1/19 |
| 11 pairs of ribs | 5.3% | 1/19 |
| 2-3 toe syndactyly | 5.3% | 1/19 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 36.8% | 7/19 |
| Eczematoid dermatitis | 21.1% | 4/19 |
| Abnormal eyebrow morphology | 10.5% | 2/19 |
| Abnormal toenail morphology | 5.3% | 1/19 |
| Coarse hair | 5.3% | 1/19 |
| Coarse facial features | 5.3% | 1/19 |
| Horizontal eyebrow | 5.3% | 1/19 |
| Low anterior hairline | 5.3% | 1/19 |
| Low posterior hairline | 5.3% | 1/19 |
| Medial flaring of the eyebrow | 5.3% | 1/19 |
| Mottled pigmentation | 5.3% | 1/19 |
| Pallor | 5.3% | 1/19 |
| Sparse hair | 5.3% | 1/19 |
| Synophrys | 5.3% | 1/19 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 5.3% | 1/19 |
| Hypothermia | 5.3% | 1/19 |
| Neonatal hypoglycemia | 5.3% | 1/19 |