| Gender |
|
|
| Male |
50.0% |
6/12 |
| Female |
50.0% |
6/12 |
| Indifferent |
0% |
0/12 |
| Unknown |
0% |
0/12 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/12 |
| Birth Weight abnormalities |
8.3% |
1/12 |
| < P3 : Small for gestational age |
8.3% |
1/12 |
| Birth Head circumference abnormalities |
0% |
0/12 |
| Current Height abnormalities |
8.3% |
1/12 |
| < P3 : Short stature |
8.3% |
1/12 |
| Current Weight abnormalities |
8.3% |
1/12 |
| < P3 : Decreased body weight |
8.3% |
1/12 |
| Current Head circumference abnormalities |
33.3% |
4/12 |
| > P98 : Macrocephaly |
25.0% |
3/12 |
| < P3 : Microcephaly |
8.3% |
1/12 |
| Neurology |
|
|
| Neurological abnormalities |
75.0% |
9/12 |
| Seizures |
33.3% |
4/12 |
| Absence seizures |
25.0% |
3/12 |
| EEG abnormality |
16.7% |
2/12 |
| Abnormality of neuronal migration |
8.3% |
1/12 |
| Appendicular hypotonia |
8.3% |
1/12 |
| Bradykinesia |
8.3% |
1/12 |
| Broad-based gait |
8.3% |
1/12 |
| Febrile seizures |
8.3% |
1/12 |
| Generalized tonic-clonic seizures |
8.3% |
1/12 |
| Generalized clonic seizures |
8.3% |
1/12 |
| Generalized hypotonia |
8.3% |
1/12 |
| Hyperreflexia |
8.3% |
1/12 |
| Muscular hypotonia |
8.3% |
1/12 |
| Nasal speech |
8.3% |
1/12 |
| Postural instability |
8.3% |
1/12 |
| Speech apraxia |
8.3% |
1/12 |
| Speech articulation difficulties |
8.3% |
1/12 |
| Unsteady gait |
8.3% |
1/12 |
| Behavioral problems |
66.7% |
8/12 |
| Absent speech |
16.7% |
2/12 |
| Attention deficit hyperactivity disorder |
16.7% |
2/12 |
| Autistic behavior |
16.7% |
2/12 |
| Autism |
16.7% |
2/12 |
| Sleep disturbance |
16.7% |
2/12 |
| Aggressive behavior |
8.3% |
1/12 |
| Anxiety |
8.3% |
1/12 |
| Hair-pulling |
8.3% |
1/12 |
| Incomprehensible speech |
8.3% |
1/12 |
| Low frustration tolerance |
8.3% |
1/12 |
| Recurrent hand flapping |
8.3% |
1/12 |
| Short attention span |
8.3% |
1/12 |
| Stereotypic behavior |
8.3% |
1/12 |
| Brain abnormality |
60.0% |
6/10 |
| Abnormality of the cerebral white matter |
20.0% |
2/10 |
| Gray matter heterotopias |
20.0% |
2/10 |
| Ventriculomegaly |
20.0% |
2/10 |
| Abnormality of the corpus callosum |
10.0% |
1/10 |
| Abnormality of the sella turcica |
10.0% |
1/10 |
| Abnormality of the pituitary gland |
10.0% |
1/10 |
| Abnormality of the cerebral ventricles |
10.0% |
1/10 |
| Abnormality of the coccyx |
10.0% |
1/10 |
| Delayed myelination |
10.0% |
1/10 |
| Focal white matter lesions |
10.0% |
1/10 |
| Heterotopia |
10.0% |
1/10 |
| Increased intracranial pressure |
10.0% |
1/10 |
| Limbic malformations |
10.0% |
1/10 |
| Periventricular leukomalacia |
10.0% |
1/10 |
| Polymicrogyria |
10.0% |
1/10 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
66.7% |
8/12 |
| Low-set ears |
33.3% |
4/12 |
| Cupped ear |
16.7% |
2/12 |
| Posteriorly rotated ears |
16.7% |
2/12 |
| Protruding ear |
16.7% |
2/12 |
| Macrotia |
8.3% |
1/12 |
| Microtia |
8.3% |
1/12 |
| Overfolded helix |
8.3% |
1/12 |
| Strabismus |
8.3% |
1/12 |
| Abnormality of the eye |
66.7% |
8/12 |
| Upslanted palpebral fissure |
25.0% |
3/12 |
| Epicanthus |
16.7% |
2/12 |
| Short palpebral fissure |
16.7% |
2/12 |
| Strabismus |
16.7% |
2/12 |
| Abnormality of retinal pigmentation |
8.3% |
1/12 |
| Almond-shaped palpebral fissure |
8.3% |
1/12 |
| Hypotelorism |
8.3% |
1/12 |
| Low-set, posteriorly rotated ears |
8.3% |
1/12 |
| Overfolded helix |
8.3% |
1/12 |
| Posteriorly rotated ears |
8.3% |
1/12 |
| Ptosis |
8.3% |
1/12 |
| Shallow orbits |
8.3% |
1/12 |
| Telecanthus |
8.3% |
1/12 |
| Abnormality of the nose |
50.0% |
6/12 |
| Depressed nasal bridge |
25.0% |
3/12 |
| Abnormality of the columella |
16.7% |
2/12 |
| Bulbous nose |
16.7% |
2/12 |
| Short nose |
16.7% |
2/12 |
| Abnormality of the nasal alae |
8.3% |
1/12 |
| Deviated nasal septum |
8.3% |
1/12 |
| Prominent nasal bridge |
8.3% |
1/12 |
| Prominent nose |
8.3% |
1/12 |
| Abnormality of the mouth |
58.3% |
7/12 |
| Carious teeth |
16.7% |
2/12 |
| High palate |
16.7% |
2/12 |
| Thick vermilion border |
16.7% |
2/12 |
| Thin upper lip vermilion |
16.7% |
2/12 |
| Thin vermilion border |
16.7% |
2/12 |
| Abnormality of the uvula |
8.3% |
1/12 |
| Micrognathia |
8.3% |
1/12 |
| Narrow mouth |
8.3% |
1/12 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
50.0% |
6/12 |
| Hypermetropia |
25.0% |
3/12 |
| Esotropia |
16.7% |
2/12 |
| Papilledema |
16.7% |
2/12 |
| Congenital strabismus |
8.3% |
1/12 |
| Nystagmus |
8.3% |
1/12 |
| Heart |
|
|
| Abnormality of the heart |
33.3% |
4/12 |
| Aortic root dilatation |
8.3% |
1/12 |
| Atria septal defect |
8.3% |
1/12 |
| Patent ductus arteriosus |
8.3% |
1/12 |
| Prolonged QT interval |
8.3% |
1/12 |
| Pulmonary hypertension |
8.3% |
1/12 |
| Ventricular septal defect |
8.3% |
1/12 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
8.3% |
1/12 |
| Constipation |
8.3% |
1/12 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
9.1% |
1/11 |
| Dilatation of the renal pelvis |
9.1% |
1/11 |
| Skeleton |
|
|
| Skeletal abnormalities |
66.7% |
8/12 |
| Congenital hip dislocation |
16.7% |
2/12 |
| Overlapping toe |
16.7% |
2/12 |
| Abnormality of the thorax |
8.3% |
1/12 |
| Abnormality of toe |
8.3% |
1/12 |
| Arachnodactyly |
8.3% |
1/12 |
| Broad toe |
8.3% |
1/12 |
| Clinodactyly of the 5th finger |
8.3% |
1/12 |
| Congenital finger flexion contractures |
8.3% |
1/12 |
| Down-sloping shoulders |
8.3% |
1/12 |
| Elbow flexion contracture |
8.3% |
1/12 |
| Finger joint hypermobility |
8.3% |
1/12 |
| Hyperextensibility at wrists |
8.3% |
1/12 |
| Joint hypermobility |
8.3% |
1/12 |
| Long toe |
8.3% |
1/12 |
| Marked delay in bone age |
8.3% |
1/12 |
| Narrow chest |
8.3% |
1/12 |
| Pectus excavatum |
8.3% |
1/12 |
| Pes planus |
8.3% |
1/12 |
| Scoliosis |
8.3% |
1/12 |
| Short stature |
8.3% |
1/12 |
| Slender build |
8.3% |
1/12 |
| Talipes equinovarus |
8.3% |
1/12 |
| 3-4 finger syndactyly |
8.3% |
1/12 |
| 2-3 finger syndactyly |
8.3% |
1/12 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
50.0% |
6/12 |
| Abnormal palmar dermatoglyphics |
16.7% |
2/12 |
| Curly hair |
16.7% |
2/12 |
| Thick hair |
16.7% |
2/12 |
| Abnormality of the scalp hair |
8.3% |
1/12 |
| Eczema |
8.3% |
1/12 |
| Hemangioma |
8.3% |
1/12 |
| Highly arched eyebrow |
8.3% |
1/12 |
| Low anterior hairline |
8.3% |
1/12 |
| Sacral dimple |
8.3% |
1/12 |
| Soft skin |
8.3% |
1/12 |
| Sparse eyebrow |
8.3% |
1/12 |
| Wide intermamillary distance |
8.3% |
1/12 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
8.3% |
1/12 |
| Growth hormone deficiency |
8.3% |
1/12 |