| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 34.4% | 11/32 |
| Female | 65.6% | 21/32 |
| General | ||
| Birth Length abnormalities | 0% | 0/32 |
| Birth Weight abnormalities | 0% | 0/32 |
| Birth Head circumference abnormalities | 0% | 0/32 |
| Current Height abnormalities | 0% | 0/32 |
| Current Weight abnormalities | 0% | 0/32 |
| Current Head circumference abnormalities | 9.4% | 3/32 |
| < P3 : Microcephaly | 9.4% | 3/32 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 32/32 |
| Epileptic encephalopathy | 84.4% | 27/32 |
| Muscular hypotonia | 71.9% | 23/32 |
| Epileptic spasms | 59.4% | 19/32 |
| Hyperreflexia | 50.0% | 16/32 |
| Generalized myoclonic seizures | 18.8% | 6/32 |
| Generalized hypotonia | 18.8% | 6/32 |
| Spasticity | 18.8% | 6/32 |
| Babinski sign | 12.5% | 4/32 |
| Myoclonus | 12.5% | 4/32 |
| Ataxia | 9.4% | 3/32 |
| Clonus | 9.4% | 3/32 |
| Dystonia | 9.4% | 3/32 |
| Generalized tonic seizures | 9.4% | 3/32 |
| Generalized tonic-clonic seizures | 9.4% | 3/32 |
| Areflexia | 6.3% | 2/32 |
| Focal tonic seizures | 6.3% | 2/32 |
| Generalized dystonia | 6.3% | 2/32 |
| Opisthotonus | 6.3% | 2/32 |
| Poor head control | 6.3% | 2/32 |
| Aplasia/Hypoplasia of the corpus callosum | 3.1% | 1/32 |
| Atonic seizures | 3.1% | 1/32 |
| Brisk reflexes | 3.1% | 1/32 |
| Chorea | 3.1% | 1/32 |
| Encephalopathy | 3.1% | 1/32 |
| Febrile seizures | 3.1% | 1/32 |
| Focal clonic seizures | 3.1% | 1/32 |
| Focal myoclonic seizures | 3.1% | 1/32 |
| Focal seizures | 3.1% | 1/32 |
| Focal seizures with impairment of consciousness or awareness | 3.1% | 1/32 |
| Gelastic seizures | 3.1% | 1/32 |
| Hypertonia | 3.1% | 1/32 |
| Hyporeflexia | 3.1% | 1/32 |
| Involuntary movements | 3.1% | 1/32 |
| Limb hypertonia | 3.1% | 1/32 |
| Reduced tendon reflexes | 3.1% | 1/32 |
| Status epilepticus | 3.1% | 1/32 |
| Tetraplegia | 3.1% | 1/32 |
| Tremor | 3.1% | 1/32 |
| Behavioral problems | 85.7% | 6/7 |
| Drooling | 57.1% | 4/7 |
| Paroxysmal bursts of laughter | 14.3% | 1/7 |
| Tongue thrusting | 14.3% | 1/7 |
| Brain abnormality | 73.1% | 19/26 |
| Hypsarrhythmia | 30.8% | 8/26 |
| Delayed CNS myelination | 19.2% | 5/26 |
| Cerebral atrophy | 11.5% | 3/26 |
| EEG abnormality | 11.5% | 3/26 |
| Multifocal epileptiform discharges | 11.5% | 3/26 |
| Ventriculomegaly | 11.5% | 3/26 |
| Cerebellar atrophy | 7.7% | 2/26 |
| Abnormality of the cerebral white matter | 3.8% | 1/26 |
| Abnormality of the corpus callosum | 3.8% | 1/26 |
| Cerebral dysmyelination | 3.8% | 1/26 |
| EEG with occipital focal spikes | 3.8% | 1/26 |
| EEG with generalized epileptiform discharges | 3.8% | 1/26 |
| EEG with focal epileptiform discharges | 3.8% | 1/26 |
| Global brain atrophy | 3.8% | 1/26 |
| Nonprogressive cerebellar ataxia | 3.8% | 1/26 |
| Widened subarachnoid space | 3.8% | 1/26 |
| Facial abnormalities | ||
| Abnormality of the ear | 24.0% | 6/25 |
| Low-set ears | 8.0% | 2/25 |
| Protruding ear | 8.0% | 2/25 |
| Large earlobe | 4.0% | 1/25 |
| Microtia | 4.0% | 1/25 |
| Posteriorly rotated ears | 4.0% | 1/25 |
| Prominent crus of helix | 4.0% | 1/25 |
| Thin ear helix | 4.0% | 1/25 |
| Abnormality of the eye | 48.0% | 12/25 |
| Epicanthus | 20.0% | 5/25 |
| Short palpebral fissure | 16.0% | 4/25 |
| Deeply set eye | 12.0% | 3/25 |
| Small palpebral fissure | 12.0% | 3/25 |
| Downslanted palpebral fissures | 4.0% | 1/25 |
| Horizontal eyebrow | 4.0% | 1/25 |
| Hypertelorism | 4.0% | 1/25 |
| Long eyelashes | 4.0% | 1/25 |
| Telecanthus | 4.0% | 1/25 |
| Abnormality of the nose | 4.0% | 1/25 |
| Anteverted nares | 4.0% | 1/25 |
| Abnormality of the mouth | 60.0% | 15/25 |
| Short philtrum | 40.0% | 10/25 |
| Thick lower lip vermilion | 16.0% | 4/25 |
| Open mouth | 12.0% | 3/25 |
| Downturned corners of mouth | 8.0% | 2/25 |
| Wide mouth | 8.0% | 2/25 |
| Long philtrum | 4.0% | 1/25 |
| Micrognathia | 4.0% | 1/25 |
| Narrow mouth | 4.0% | 1/25 |
| Thick vermilion border | 4.0% | 1/25 |
| Thin vermilion border | 4.0% | 1/25 |
| Visual and hearing impairments | ||
| Abnormal vision | 6.9% | 2/29 |
| Abnormal iris vasculature | 3.4% | 1/29 |
| Anterior segment dysgenesis | 3.4% | 1/29 |
| Bilateral microphthalmos | 3.4% | 1/29 |
| Congenital cataract | 3.4% | 1/29 |
| Hypoplasia of the iris | 3.4% | 1/29 |
| Lens coloboma | 3.4% | 1/29 |
| Strabismus | 3.4% | 1/29 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 88.9% | 24/27 |
| Feeding difficulties | 88.9% | 24/27 |
| Hiatus hernia | 3.7% | 1/27 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 2/4 |
| Megacystis | 25.0% | 1/4 |
| Neurogenic bladder | 25.0% | 1/4 |
| Ureteral duplication | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 33.3% | 1/3 |
| Contracture of the proximal interphalangeal joint of the 4th finger | 33.3% | 1/3 |
| Contracture of the proximal interphalangeal joint of the 3rd finger | 33.3% | 1/3 |
| Tapered finger | 33.3% | 1/3 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 3/6 |
| Synophrys | 33.3% | 2/6 |
| Deep palmar crease | 16.7% | 1/6 |