| Gender |
|
|
| Male |
56.9% |
33/58 |
| Female |
43.1% |
25/58 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/58 |
| Birth Weight abnormalities |
1.7% |
1/58 |
| < P3 : Small for gestational age |
1.7% |
1/58 |
| Birth Head circumference abnormalities |
1.7% |
1/58 |
| < P3 : Congenital microcephaly |
1.7% |
1/58 |
| Current Height abnormalities |
5.2% |
3/58 |
| < P3 : Short stature |
5.2% |
3/58 |
| Current Weight abnormalities |
5.2% |
3/58 |
| < P3 : Decreased body weight |
5.2% |
3/58 |
| Current Head circumference abnormalities |
34.5% |
20/58 |
| < P3 : Microcephaly |
34.5% |
20/58 |
| Neurology |
|
|
| Neurological abnormalities |
95.7% |
44/46 |
| Muscular hypotonia |
65.2% |
30/46 |
| Gait ataxia |
26.1% |
12/46 |
| EEG abnormality |
21.7% |
10/46 |
| Dysarthria |
19.6% |
9/46 |
| Abnormality of the autonomic nervous system |
10.9% |
5/46 |
| Generalized tonic-clonic seizures |
8.7% |
4/46 |
| Ataxia |
6.5% |
3/46 |
| Focal seizures |
6.5% |
3/46 |
| Seizures |
6.5% |
3/46 |
| Absence seizures |
4.3% |
2/46 |
| Focal myoclonic seizures |
4.3% |
2/46 |
| Generalized myoclonic seizures |
4.3% |
2/46 |
| Speech apraxia |
4.3% |
2/46 |
| Atonic seizures |
2.2% |
1/46 |
| Facial hypotonia |
2.2% |
1/46 |
| Generalized seizures |
2.2% |
1/46 |
| Generalized tonic seizures |
2.2% |
1/46 |
| Myoclonic spasms |
2.2% |
1/46 |
| Toe walking |
2.2% |
1/46 |
| Behavioral problems |
79.6% |
43/54 |
| Behavioral abnormality |
61.1% |
33/54 |
| Autism |
33.3% |
18/54 |
| Repetitive compulsive behavior |
29.6% |
16/54 |
| Sleep disturbance |
29.6% |
16/54 |
| Aggressive behavior |
27.8% |
15/54 |
| Attention deficit hyperactivity disorder |
22.2% |
12/54 |
| Absent speech |
18.5% |
10/54 |
| Anxiety |
11.1% |
6/54 |
| Depression |
1.9% |
1/54 |
| Dysgraphia |
1.9% |
1/54 |
| Dyslexia |
1.9% |
1/54 |
| Brain abnormality |
60.0% |
27/45 |
| Abnormality of the posterior cranial fossa |
33.3% |
15/45 |
| Abnormality of brainstem morphology |
31.1% |
14/45 |
| Abnormality of the corpus callosum |
20.0% |
9/45 |
| Abnormality of brain morphology |
11.1% |
5/45 |
| Abnormality of the cerebellar vermis |
2.2% |
1/45 |
| Abnormality of the cerebral cortex |
2.2% |
1/45 |
| Cortical dysplasia |
2.2% |
1/45 |
| Ventriculomegaly |
2.2% |
1/45 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
66.7% |
32/48 |
| Abnormality of the outer ear |
58.3% |
28/48 |
| Attached earlobe |
6.3% |
3/48 |
| Overfolded helix |
4.2% |
2/48 |
| Prominent antihelix |
4.2% |
2/48 |
| Auricular tag |
2.1% |
1/48 |
| Cupped ear |
2.1% |
1/48 |
| Low-set ears |
2.1% |
1/48 |
| Microtia |
2.1% |
1/48 |
| Posteriorly rotated ears |
2.1% |
1/48 |
| Protruding ear |
2.1% |
1/48 |
| Abnormality of the eye |
58.8% |
20/34 |
| Epicanthus |
52.9% |
18/34 |
| Downslanted palpebral fissures |
8.8% |
3/34 |
| Abnormality of eye movement |
2.9% |
1/34 |
| Blue sclerae |
2.9% |
1/34 |
| Ptosis |
2.9% |
1/34 |
| Telecanthus |
2.9% |
1/34 |
| Abnormality of the nose |
61.4% |
27/44 |
| Wide nose |
59.1% |
26/44 |
| Broad nasal tip |
11.4% |
5/44 |
| Abnormality of the nares |
4.5% |
2/44 |
| Anteverted nares |
2.3% |
1/44 |
| Depressed nasal bridge |
2.3% |
1/44 |
| Prominent nasal bridge |
2.3% |
1/44 |
| Abnormality of the mouth |
84.6% |
44/52 |
| Abnormality of lower lip |
53.8% |
28/52 |
| Thin upper lip vermilion |
40.4% |
21/52 |
| Abnormality of the palate |
9.6% |
5/52 |
| Retrognathia |
7.7% |
4/52 |
| High palate |
5.8% |
3/52 |
| Cleft palate |
1.9% |
1/52 |
| Micrognathia |
1.9% |
1/52 |
| Narrow mouth |
1.9% |
1/52 |
| Wide mouth |
1.9% |
1/52 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
5.6% |
1/18 |
| Hearing impairment |
5.6% |
1/18 |
| Abnormal vision |
74.4% |
29/39 |
| Strabismus |
74.4% |
29/39 |
| Amblyopia |
2.6% |
1/39 |
| Hypermetropia |
2.6% |
1/39 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
41.2% |
14/34 |
| Constipation |
38.2% |
13/34 |
| Gastroesophageal reflux |
2.9% |
1/34 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
33.3% |
8/24 |
| Cryptorchidism |
12.5% |
3/24 |
| Hydronephrosis |
4.2% |
1/24 |
| Hydrocele testis |
4.2% |
1/24 |
| Micropenis |
4.2% |
1/24 |
| Phimosis |
4.2% |
1/24 |
| Urethral stenosis |
4.2% |
1/24 |
| Vesicoureteral reflux |
4.2% |
1/24 |
| Skeleton |
|
|
| Skeletal abnormalities |
61.4% |
27/44 |
| Joint hypermobility |
43.2% |
19/44 |
| Scoliosis |
18.2% |
8/44 |
| Abnormality of finger |
2.3% |
1/44 |
| Abnormality of the metacarpal bones |
2.3% |
1/44 |
| Clinodactyly of the 2nd toe |
2.3% |
1/44 |
| Congenital hip dislocation |
2.3% |
1/44 |
| Coxa valga |
2.3% |
1/44 |
| Kyphosis |
2.3% |
1/44 |
| Marked delay in bone age |
2.3% |
1/44 |
| Pectus excavatum |
2.3% |
1/44 |
| Postaxial hand polydactyly |
2.3% |
1/44 |
| Postaxial foot polydactyly |
2.3% |
1/44 |
| Valgus foot deformity |
2.3% |
1/44 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
57.1% |
16/28 |
| Hypertrichosis |
39.3% |
11/28 |
| Fine hair |
7.1% |
2/28 |
| Atopic dermatitis |
3.6% |
1/28 |
| Frontal upsweep of hair |
3.6% |
1/28 |
| High posterior hairline |
3.6% |
1/28 |
| High anterior hairline |
3.6% |
1/28 |
| Medial flaring of the eyebrow |
3.6% |
1/28 |
| Prominent digit pad |
3.6% |
1/28 |
| Sparse eyebrow |
3.6% |
1/28 |
| Supernumerary nipple |
3.6% |
1/28 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
100.0% |
1/1 |
| Hypothyroidism |
100.0% |
1/1 |
| Abnormality of the immune system |
10.0% |
2/20 |
| Bronchiectasis |
5.0% |
1/20 |
| Panhypogammaglobulinemia |
5.0% |
1/20 |
| Recurrent pneumonia |
5.0% |
1/20 |
| Recurrent otitis media |
5.0% |
1/20 |
| Neoplasia |
|
|
| Neoplasia |
1.7% |
1/58 |
| Osteochondroma |
1.7% |
1/58 |