| Gender |
|
|
| Male |
63.3% |
19/30 |
| Female |
36.7% |
11/30 |
| General |
|
|
| Birth Length abnormalities |
6.7% |
2/30 |
| < P3 : Birth length less than 3rd percentile |
6.7% |
2/30 |
| Birth Weight abnormalities |
16.7% |
5/30 |
| < P3 : Small for gestational age |
16.7% |
5/30 |
| Birth Head circumference abnormalities |
13.3% |
4/30 |
| < P3 : Congenital microcephaly |
13.3% |
4/30 |
| Current Height abnormalities |
16.7% |
5/30 |
| > P98 : Tall stature |
3.3% |
1/30 |
| < P3 : Short stature |
13.3% |
4/30 |
| Current Weight abnormalities |
26.7% |
8/30 |
| < P3 : Decreased body weight |
23.3% |
7/30 |
| > P98 : Increased body weight |
3.3% |
1/30 |
| Current Head circumference abnormalities |
33.3% |
10/30 |
| < P3 : Microcephaly |
30.0% |
9/30 |
| > P98 : Macrocephaly |
3.3% |
1/30 |
| Neurology |
|
|
| Neurological abnormalities |
84.6% |
22/26 |
| Generalized hypotonia |
38.5% |
10/26 |
| Ataxia |
15.4% |
4/26 |
| Absence seizures |
7.7% |
2/26 |
| Delayed speech and language development |
7.7% |
2/26 |
| EEG abnormality |
7.7% |
2/26 |
| Intellectual disability, moderate |
7.7% |
2/26 |
| Seizures |
7.7% |
2/26 |
| Absent speech |
3.8% |
1/26 |
| Broad-based gait |
3.8% |
1/26 |
| Central hypotonia |
3.8% |
1/26 |
| Delayed closure of the anterior fontanelle |
3.8% |
1/26 |
| Dystonia |
3.8% |
1/26 |
| Epileptic spasms |
3.8% |
1/26 |
| Episodic ataxia |
3.8% |
1/26 |
| Gait imbalance |
3.8% |
1/26 |
| Generalized tonic seizures |
3.8% |
1/26 |
| Generalized seizures |
3.8% |
1/26 |
| Global developmental delay |
3.8% |
1/26 |
| Hearing impairment |
3.8% |
1/26 |
| Horizontal nystagmus |
3.8% |
1/26 |
| Intellectual disability |
3.8% |
1/26 |
| Microcephaly |
3.8% |
1/26 |
| Oromotor apraxia |
3.8% |
1/26 |
| Poor fine motor coordination |
3.8% |
1/26 |
| Spastic gait |
3.8% |
1/26 |
| Specific learning disability |
3.8% |
1/26 |
| Tremor by anatomical site |
3.8% |
1/26 |
| Visual impairment |
3.8% |
1/26 |
| Behavioral problems |
62.1% |
18/29 |
| Attention deficit hyperactivity disorder |
13.8% |
4/29 |
| Anxiety |
10.3% |
3/29 |
| Autistic behavior |
10.3% |
3/29 |
| Behavioral abnormality |
10.3% |
3/29 |
| Autism |
6.9% |
2/29 |
| Fatigue |
6.9% |
2/29 |
| Self-injurious behavior |
6.9% |
2/29 |
| Short attention span |
6.9% |
2/29 |
| Sleep disturbance |
6.9% |
2/29 |
| Abnormal social behavior |
3.4% |
1/29 |
| Aggressive behavior |
3.4% |
1/29 |
| Depression |
3.4% |
1/29 |
| Difficulty walking |
3.4% |
1/29 |
| Emotional lability |
3.4% |
1/29 |
| Hyperactivity |
3.4% |
1/29 |
| Impaired social interactions |
3.4% |
1/29 |
| Low frustration tolerance |
3.4% |
1/29 |
| Restrictive behavior |
3.4% |
1/29 |
| Shyness |
3.4% |
1/29 |
| Sleep apnea |
3.4% |
1/29 |
| Stereotypical hand wringing |
3.4% |
1/29 |
| Brain abnormality |
70.8% |
17/24 |
| Hypoplasia of the corpus callosum |
25.0% |
6/24 |
| Cerebellar hypoplasia |
8.3% |
2/24 |
| Abnormality of the periventricular white matter |
4.2% |
1/24 |
| Abnormality of the cerebral ventricles |
4.2% |
1/24 |
| Abnormality of the cerebellum |
4.2% |
1/24 |
| Aplasia/Hypoplasia of the cerebral white matter |
4.2% |
1/24 |
| Arachnoid cyst |
4.2% |
1/24 |
| Asymmetric ventricles |
4.2% |
1/24 |
| Brain abscess |
4.2% |
1/24 |
| Brainstem dysplasia |
4.2% |
1/24 |
| Cavum septum pellucidum |
4.2% |
1/24 |
| Cerebral ischemia |
4.2% |
1/24 |
| Cerebellar atrophy |
4.2% |
1/24 |
| Cortical dysplasia |
4.2% |
1/24 |
| Diffuse cerebral atrophy |
4.2% |
1/24 |
| Dilation of lateral ventricles |
4.2% |
1/24 |
| EEG abnormality |
4.2% |
1/24 |
| Frontal cortical atrophy |
4.2% |
1/24 |
| Global brain atrophy |
4.2% |
1/24 |
| Microcephaly |
4.2% |
1/24 |
| Partial agenesis of the corpus callosum |
4.2% |
1/24 |
| Periventricular cysts |
4.2% |
1/24 |
| Periventricular leukomalacia |
4.2% |
1/24 |
| Perivascular spaces |
4.2% |
1/24 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
30.0% |
6/20 |
| Abnormality of the outer ear |
5.0% |
1/20 |
| Large fleshy ears |
5.0% |
1/20 |
| Posteriorly rotated ears |
5.0% |
1/20 |
| Protruding ear |
5.0% |
1/20 |
| Abnormality of the eye |
42.1% |
8/19 |
| Upslanted palpebral fissure |
15.8% |
3/19 |
| Hypotelorism |
10.5% |
2/19 |
| Almond-shaped palpebral fissure |
5.3% |
1/19 |
| Blue sclerae |
5.3% |
1/19 |
| Blue irides |
5.3% |
1/19 |
| Hypermetropia |
5.3% |
1/19 |
| Long eyelashes |
5.3% |
1/19 |
| Long palpebral fissure |
5.3% |
1/19 |
| Thick eyebrow |
5.3% |
1/19 |
| Abnormality of the nose |
36.8% |
7/19 |
| Anteverted nares |
10.5% |
2/19 |
| Broad nasal tip |
5.3% |
1/19 |
| Bulbous nose |
5.3% |
1/19 |
| Convex nasal ridge |
5.3% |
1/19 |
| Long nose |
5.3% |
1/19 |
| Narrow nasal ridge |
5.3% |
1/19 |
| Narrow nose |
5.3% |
1/19 |
| Prominent nose |
5.3% |
1/19 |
| Wide nasal ridge |
5.3% |
1/19 |
| Abnormality of the mouth |
45.0% |
9/20 |
| High palate |
10.0% |
2/20 |
| Narrow palate |
10.0% |
2/20 |
| Smooth philtrum |
10.0% |
2/20 |
| Thin upper lip vermilion |
10.0% |
2/20 |
| Dental crowding |
5.0% |
1/20 |
| Gingival overgrowth |
5.0% |
1/20 |
| Macrodontia of permanent maxillary central incisor |
5.0% |
1/20 |
| Narrow mouth |
5.0% |
1/20 |
| Open mouth |
5.0% |
1/20 |
| Oromotor apraxia |
5.0% |
1/20 |
| Short uvula |
5.0% |
1/20 |
| Thick lower lip vermilion |
5.0% |
1/20 |
| Wide mouth |
5.0% |
1/20 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
14.3% |
4/28 |
| Hearing impairment |
10.7% |
3/28 |
| Mild hearing impairment |
3.6% |
1/28 |
| Abnormal vision |
46.4% |
13/28 |
| Strabismus |
14.3% |
4/28 |
| Hypermetropia |
10.7% |
3/28 |
| Abnormality of refraction |
7.1% |
2/28 |
| Cortical visual impairment |
7.1% |
2/28 |
| Abnormality of vision |
3.6% |
1/28 |
| Abnormality of the optic nerve |
3.6% |
1/28 |
| Astigmatism |
3.6% |
1/28 |
| Congenital strabismus |
3.6% |
1/28 |
| Myopia |
3.6% |
1/28 |
| Nystagmus |
3.6% |
1/28 |
| Poor eye contact |
3.6% |
1/28 |
| Heart |
|
|
| Abnormality of the heart |
4.5% |
1/22 |
| Bicuspid aortic valve |
4.5% |
1/22 |
| Pulmonary |
|
|
| Abnormality of the lungs |
7.1% |
1/14 |
| Asthma |
7.1% |
1/14 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
36.7% |
11/30 |
| Constipation |
13.3% |
4/30 |
| Feeding difficulties |
6.7% |
2/30 |
| Gastroesophageal reflux |
6.7% |
2/30 |
| Chronic diarrhea |
3.3% |
1/30 |
| Drooling |
3.3% |
1/30 |
| Feeding difficulties in infancy |
3.3% |
1/30 |
| Gastrointestinal dysmotility |
3.3% |
1/30 |
| Ileal atresia |
3.3% |
1/30 |
| Intestinal malrotation |
3.3% |
1/30 |
| Malnutrition |
3.3% |
1/30 |
| Ulcerative colitis |
3.3% |
1/30 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
11.5% |
3/26 |
| Cryptorchidism |
3.8% |
1/26 |
| Menorrhagia |
3.8% |
1/26 |
| Nocturia |
3.8% |
1/26 |
| Shawl scrotum |
3.8% |
1/26 |
| Skeleton |
|
|
| Skeletal abnormalities |
53.6% |
15/28 |
| Pes planus |
10.7% |
3/28 |
| Broad hallux |
7.1% |
2/28 |
| Clinodactyly of the 5th finger |
7.1% |
2/28 |
| Joint laxity |
7.1% |
2/28 |
| Prominent fingertip pads |
7.1% |
2/28 |
| Scoliosis |
7.1% |
2/28 |
| Abnormality of the knees |
3.6% |
1/28 |
| Bifid ribs |
3.6% |
1/28 |
| Broad thumb |
3.6% |
1/28 |
| Delayed skeletal maturation |
3.6% |
1/28 |
| Finger joint hypermobility |
3.6% |
1/28 |
| Foot asymmetry |
3.6% |
1/28 |
| Generalized hypotonia |
3.6% |
1/28 |
| Hallux valgus |
3.6% |
1/28 |
| Hip dysplasia |
3.6% |
1/28 |
| Limitation of joint mobility |
3.6% |
1/28 |
| Long palm |
3.6% |
1/28 |
| Long fingers |
3.6% |
1/28 |
| Lower limb asymmetry |
3.6% |
1/28 |
| Narrow palm |
3.6% |
1/28 |
| Overlapping toe |
3.6% |
1/28 |
| Pectus excavatum |
3.6% |
1/28 |
| Positional foot deformity |
3.6% |
1/28 |
| Tapered finger |
3.6% |
1/28 |
| Toe syndactyly |
3.6% |
1/28 |
| 3-4 finger syndactyly |
3.6% |
1/28 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
16.0% |
4/25 |
| Facial erythema |
4.0% |
1/25 |
| Hypertrichosis |
4.0% |
1/25 |
| Irregular hyperpigmentation |
4.0% |
1/25 |
| Low anterior hairline |
4.0% |
1/25 |
| Low posterior hairline |
4.0% |
1/25 |
| Short nail |
4.0% |
1/25 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
5.3% |
1/19 |
| Hyperprolinemia |
5.3% |
1/19 |
| Abnormality of the immune system |
15.0% |
3/20 |
| Asthma |
5.0% |
1/20 |
| Recurrent infections |
5.0% |
1/20 |
| Recurrent otitis media |
5.0% |
1/20 |