| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 47.1% | 8/17 |
| Female | 52.9% | 9/17 |
| General | ||
| Birth Length abnormalities | 0% | 0/17 |
| Birth Weight abnormalities | 0% | 0/17 |
| Birth Head circumference abnormalities | 47.1% | 8/17 |
| > P98 : Macrocephaly at birth | 47.1% | 8/17 |
| Current Height abnormalities | 5.9% | 1/17 |
| < P3 : Short stature | 5.9% | 1/17 |
| Current Weight abnormalities | 0% | 0/17 |
| Current Head circumference abnormalities | 76.5% | 13/17 |
| > P98 : Macrocephaly | 70.6% | 12/17 |
| < P3 : Microcephaly | 5.9% | 1/17 |
| Neurology | ||
| Neurological abnormalities | 93.8% | 15/16 |
| Seizures | 62.5% | 10/16 |
| Muscular hypotonia | 56.3% | 9/16 |
| Focal seizures | 18.8% | 3/16 |
| Generalized hypotonia | 18.8% | 3/16 |
| Generalized tonic-clonic seizures | 18.8% | 3/16 |
| Abnormality of temperature regulation | 12.5% | 2/16 |
| EEG abnormality | 12.5% | 2/16 |
| Poor head control | 12.5% | 2/16 |
| Atonic seizures | 6.3% | 1/16 |
| Bulbar palsy | 6.3% | 1/16 |
| Chewing difficulties | 6.3% | 1/16 |
| Complex febrile seizures | 6.3% | 1/16 |
| Drooling | 6.3% | 1/16 |
| Dystonia | 6.3% | 1/16 |
| Horner syndrome | 6.3% | 1/16 |
| Ventriculomegaly | 6.3% | 1/16 |
| Behavioral problems | 80.0% | 8/10 |
| Absent speech | 50.0% | 5/10 |
| Autistic behavior | 20.0% | 2/10 |
| Autism | 10.0% | 1/10 |
| Behavioral abnormality | 10.0% | 1/10 |
| Self-injurious behavior | 10.0% | 1/10 |
| Sleep disturbance | 10.0% | 1/10 |
| Brain abnormality | 100.0% | 17/17 |
| Megalencephaly | 88.2% | 15/17 |
| Polymicrogyria | 64.7% | 11/17 |
| Thick corpus callosum | 58.8% | 10/17 |
| Ventriculomegaly | 52.9% | 9/17 |
| Cavum septum pellucidum | 29.4% | 5/17 |
| Periventricular gray matter heterotopia | 17.6% | 3/17 |
| Abnormality of the cerebral white matter | 11.8% | 2/17 |
| Cortical dysplasia | 11.8% | 2/17 |
| Abnormality of neuronal migration | 5.9% | 1/17 |
| Abnormality of the corpus callosum | 5.9% | 1/17 |
| Abnormal neuron morphology | 5.9% | 1/17 |
| Abnormal cortical gyration | 5.9% | 1/17 |
| Arnold-Chiari malformation | 5.9% | 1/17 |
| Dural ectasia | 5.9% | 1/17 |
| Dysplastic corpus callosum | 5.9% | 1/17 |
| Encephalomalacia | 5.9% | 1/17 |
| Enlarged cerebellum | 5.9% | 1/17 |
| Gliosis | 5.9% | 1/17 |
| Hemimegalencephaly | 5.9% | 1/17 |
| Hydrocephalus | 5.9% | 1/17 |
| Hypodysplasia of the corpus callosum | 5.9% | 1/17 |
| Small posterior fossa | 5.9% | 1/17 |
| Small foramen magnum | 5.9% | 1/17 |
| Facial abnormalities | ||
| Abnormality of the eye | 14.3% | 1/7 |
| Deeply set eye | 14.3% | 1/7 |
| Heart | ||
| Abnormality of the heart | 7.1% | 1/14 |
| Abnormality of the coronary arteries | 7.1% | 1/14 |
| Stroke | 7.1% | 1/14 |
| Pulmonary | ||
| Abnormality of the lungs | 6.7% | 1/15 |
| Pneumonia | 6.7% | 1/15 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 7.1% | 1/14 |
| Gastroesophageal reflux | 7.1% | 1/14 |
| Skeleton | ||
| Skeletal abnormalities | 20.0% | 3/15 |
| Joint hypermobility | 13.3% | 2/15 |
| Toe syndactyly | 6.7% | 1/15 |
| 3-4 toe syndactyly | 6.7% | 1/15 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 68.8% | 11/16 |
| Abnormality of connective tissue | 37.5% | 6/16 |
| Abnormality of the vasculature | 31.3% | 5/16 |
| Localized skin lesion | 25.0% | 4/16 |
| Aplasia cutis congenita of scalp | 12.5% | 2/16 |
| Prominent fingertip pads | 12.5% | 2/16 |
| Abnormality of subcutaneous fat tissue | 6.3% | 1/16 |
| Abnormal elasticity of skin | 6.3% | 1/16 |
| Deep palmar crease | 6.3% | 1/16 |
| Nevus flammeus | 6.3% | 1/16 |
| Prominent veins on trunk | 6.3% | 1/16 |
| Soft, doughy skin | 6.3% | 1/16 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 14.3% | 2/14 |
| Hyperglycemia | 7.1% | 1/14 |
| Hypoglycemia | 7.1% | 1/14 |
| Hypothyroidism | 7.1% | 1/14 |
| Abnormality of the metabolic system | 21.4% | 3/14 |
| Hypoglycemia | 14.3% | 2/14 |
| Abnormality of vitamin A metabolism | 7.1% | 1/14 |
| Abnormality of the immune system | 14.3% | 2/14 |
| IgA deficiency | 7.1% | 1/14 |
| IgE deficiency | 7.1% | 1/14 |
| Recurrent infections | 7.1% | 1/14 |