| Gender |
|
|
| Male |
64.3% |
18/28 |
| Female |
35.7% |
10/28 |
| 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 generalized slow activity |
3.6% |
1/28 |
| EEG with spike-wave complexes |
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 myoclonic seizures |
3.6% |
1/28 |
| Generalized tonic-clonic 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 |