| Gender |
|
|
| Male |
53.3% |
16/30 |
| Female |
46.7% |
14/30 |
| General |
|
|
| Birth Length abnormalities |
10.0% |
1/10 |
| > P98 : Birth length greater than 97th percentile |
10.0% |
1/10 |
| Birth Weight abnormalities |
0% |
0/23 |
| Birth Head circumference abnormalities |
0% |
0/3 |
| Current Height abnormalities |
17.6% |
3/17 |
| < P3 : Short stature |
11.8% |
2/17 |
| > P98 : Tall stature |
5.9% |
1/17 |
| Current Weight abnormalities |
14.3% |
1/7 |
| < P3 : Decreased body weight |
14.3% |
1/7 |
| Current Head circumference abnormalities |
23.5% |
4/17 |
| > P98 : Macrocephaly |
23.5% |
4/17 |
| Neurology |
|
|
| Neurological abnormalities |
80.0% |
24/30 |
| Neonatal hypotonia |
30.0% |
9/30 |
| Central hypotonia |
16.7% |
5/30 |
| Seizures |
16.7% |
5/30 |
| Generalized hypotonia |
13.3% |
4/30 |
| Generalized tonic-clonic seizures |
6.7% |
2/30 |
| Infantile axial hypotonia |
6.7% |
2/30 |
| Infantile spasms |
6.7% |
2/30 |
| Spasticity |
6.7% |
2/30 |
| Agitation |
3.3% |
1/30 |
| Atonic seizures |
3.3% |
1/30 |
| Bradykinesia |
3.3% |
1/30 |
| Dysdiadochokinesis |
3.3% |
1/30 |
| Dysmetria |
3.3% |
1/30 |
| Dystonia |
3.3% |
1/30 |
| EEG with centrotemporal focal spike waves |
3.3% |
1/30 |
| Episodic fever |
3.3% |
1/30 |
| Episodic fatigue |
3.3% |
1/30 |
| Febrile seizures |
3.3% |
1/30 |
| Focal seizures |
3.3% |
1/30 |
| Generalized seizures |
3.3% |
1/30 |
| Generalized neonatal hypotonia |
3.3% |
1/30 |
| Hypokinesia |
3.3% |
1/30 |
| Hypsarrhythmia |
3.3% |
1/30 |
| Intention tremor |
3.3% |
1/30 |
| Limb hypertonia |
3.3% |
1/30 |
| Myopathic facies |
3.3% |
1/30 |
| Obsessive-compulsive behavior |
3.3% |
1/30 |
| Optic atrophy |
3.3% |
1/30 |
| Repetitive compulsive behavior |
3.3% |
1/30 |
| Septo-optic dysplasia |
3.3% |
1/30 |
| Sleep disturbance |
3.3% |
1/30 |
| Behavioral problems |
46.7% |
14/30 |
| Autism |
30.0% |
9/30 |
| Attention deficit hyperactivity disorder |
20.0% |
6/30 |
| Repetitive compulsive behavior |
20.0% |
6/30 |
| Aggressive behavior |
10.0% |
3/30 |
| Obsessive-compulsive behavior |
6.7% |
2/30 |
| Emotional lability |
3.3% |
1/30 |
| Head-banging |
3.3% |
1/30 |
| Perseveration |
3.3% |
1/30 |
| Brain abnormality |
50.0% |
12/24 |
| Hypoplasia of the corpus callosum |
29.2% |
7/24 |
| Hypoplasia of the optic tract |
12.5% |
3/24 |
| Delayed myelination |
8.3% |
2/24 |
| Optic atrophy |
8.3% |
2/24 |
| Optic nerve hypoplasia |
8.3% |
2/24 |
| Abnormality of the periventricular white matter |
4.2% |
1/24 |
| Abnormal cortical gyration |
4.2% |
1/24 |
| Agenesis of corpus callosum |
4.2% |
1/24 |
| Cerebral white matter hypoplasia |
4.2% |
1/24 |
| Corticospinal tract hypoplasia |
4.2% |
1/24 |
| Dysplastic corpus callosum |
4.2% |
1/24 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
33.3% |
10/30 |
| Protruding ear |
10.0% |
3/30 |
| Large earlobe |
6.7% |
2/30 |
| Auricular tag |
3.3% |
1/30 |
| Cupped ear |
3.3% |
1/30 |
| Darwin tubercle of helix |
3.3% |
1/30 |
| Hypoplastic helices |
3.3% |
1/30 |
| Long ear |
3.3% |
1/30 |
| Low-set ears |
3.3% |
1/30 |
| Overfolded helix |
3.3% |
1/30 |
| Pointed helix |
3.3% |
1/30 |
| Posteriorly rotated ears |
3.3% |
1/30 |
| Prominent antihelix |
3.3% |
1/30 |
| Abnormality of the eye |
26.7% |
8/30 |
| Epicanthus |
6.7% |
2/30 |
| Small palpebral fissure |
6.7% |
2/30 |
| Upslanted palpebral fissure |
6.7% |
2/30 |
| Downslanted palpebral fissures |
3.3% |
1/30 |
| Large eyes |
3.3% |
1/30 |
| Optic atrophy |
3.3% |
1/30 |
| Abnormality of the nose |
13.3% |
4/30 |
| Anosmia |
3.3% |
1/30 |
| Long nose |
3.3% |
1/30 |
| Narrow nasal ridge |
3.3% |
1/30 |
| Prominent nasal tip |
3.3% |
1/30 |
| Prominent nasal bridge |
3.3% |
1/30 |
| Wide nasal bridge |
3.3% |
1/30 |
| Abnormality of the mouth |
23.3% |
7/30 |
| High palate |
6.7% |
2/30 |
| Thin upper lip vermilion |
6.7% |
2/30 |
| Wide mouth |
6.7% |
2/30 |
| Long hallux |
3.3% |
1/30 |
| Narrow mouth |
3.3% |
1/30 |
| Thick lower lip vermilion |
3.3% |
1/30 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
17.2% |
5/29 |
| Hearing impairment |
13.8% |
4/29 |
| Bilateral conductive hearing impairment |
3.4% |
1/29 |
| Abnormal vision |
100.0% |
30/30 |
| Visual impairment |
50.0% |
15/30 |
| Cortical visual impairment |
40.0% |
12/30 |
| Strabismus |
40.0% |
12/30 |
| Nystagmus |
33.3% |
10/30 |
| Optic disc pallor |
30.0% |
9/30 |
| Hypermetropia |
26.7% |
8/30 |
| Optic nerve hypoplasia |
23.3% |
7/30 |
| Optic atrophy |
23.3% |
7/30 |
| Esotropia |
16.7% |
5/30 |
| Visual field defect |
13.3% |
4/30 |
| Abnormality of eye movement |
10.0% |
3/30 |
| Amblyopia |
10.0% |
3/30 |
| Constriction of peripheral visual field |
6.7% |
2/30 |
| Exotropia |
6.7% |
2/30 |
| Myopia |
6.7% |
2/30 |
| Optic disc hypoplasia |
6.7% |
2/30 |
| Severe visual impairment |
6.7% |
2/30 |
| Abnormality of the optic disc |
3.3% |
1/30 |
| Abnormality of vision |
3.3% |
1/30 |
| Abnormality of refraction |
3.3% |
1/30 |
| Aplasia/Hypoplasia of the macula |
3.3% |
1/30 |
| Astigmatism |
3.3% |
1/30 |
| Coloboma |
3.3% |
1/30 |
| Corneal opacity |
3.3% |
1/30 |
| Keratitis |
3.3% |
1/30 |
| Keratoconus |
3.3% |
1/30 |
| Moderate visual impairment |
3.3% |
1/30 |
| Pallor |
3.3% |
1/30 |
| Retinal atrophy |
3.3% |
1/30 |
| Temporal optic disc pallor |
3.3% |
1/30 |
| Heart |
|
|
| Abnormality of the heart |
3.3% |
1/30 |
| Atria septal defect |
3.3% |
1/30 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
40.0% |
12/30 |
| Feeding difficulties |
16.7% |
5/30 |
| Feeding difficulties in infancy |
10.0% |
3/30 |
| Poor suck |
10.0% |
3/30 |
| Failure to thrive |
6.7% |
2/30 |
| Bowel incontinence |
3.3% |
1/30 |
| Gastroesophageal reflux |
3.3% |
1/30 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
3.3% |
1/30 |
| Urinary incontinence |
3.3% |
1/30 |
| Skeleton |
|
|
| Skeletal abnormalities |
13.3% |
4/30 |
| Joint laxity |
6.7% |
2/30 |
| Increased laxity of fingers |
3.3% |
1/30 |
| Ligamentous laxity |
3.3% |
1/30 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
3.3% |
1/30 |
| Decreased circulating cortisol level |
3.3% |
1/30 |
| Neoplasia |
|
|
| Neoplasia |
3.3% |
1/30 |
| Teratoma |
3.3% |
1/30 |