| Gender |
|
|
| Male |
54.8% |
23/42 |
| Female |
45.2% |
19/42 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/41 |
| Birth Weight abnormalities |
0% |
0/41 |
| Birth Head circumference abnormalities |
2.5% |
1/40 |
| < P3 : Congenital microcephaly |
2.5% |
1/40 |
| Current Height abnormalities |
7.1% |
3/42 |
| > P98 : Tall stature |
7.1% |
3/42 |
| Current Weight abnormalities |
4.9% |
2/41 |
| > P98 : Increased body weight |
4.9% |
2/41 |
| Current Head circumference abnormalities |
9.8% |
4/41 |
| > P98 : Macrocephaly |
7.3% |
3/41 |
| < P3 : Microcephaly |
2.4% |
1/41 |
| Neurology |
|
|
| Neurological abnormalities |
90.2% |
37/41 |
| Sleep disturbance |
46.3% |
19/41 |
| Seizures |
43.9% |
18/41 |
| Poor eye contact |
39.0% |
16/41 |
| Muscular hypotonia |
34.1% |
14/41 |
| Gait ataxia |
14.6% |
6/41 |
| Absence seizures |
9.8% |
4/41 |
| Gait disturbance |
7.3% |
3/41 |
| Insomnia |
7.3% |
3/41 |
| Central hypotonia |
4.9% |
2/41 |
| Generalized tonic-clonic seizures |
4.9% |
2/41 |
| Absent speech |
2.4% |
1/41 |
| Bruxism |
2.4% |
1/41 |
| Dystonia |
2.4% |
1/41 |
| Easy fatigability |
2.4% |
1/41 |
| EEG abnormality |
2.4% |
1/41 |
| EEG with generalized epileptiform discharges |
2.4% |
1/41 |
| EEG with persistent abnormal rhythmic activity |
2.4% |
1/41 |
| Epileptic encephalopathy |
2.4% |
1/41 |
| Episodic generalized hypotonia |
2.4% |
1/41 |
| Focal seizures |
2.4% |
1/41 |
| Generalized hypotonia |
2.4% |
1/41 |
| Generalized seizures |
2.4% |
1/41 |
| Global developmental delay |
2.4% |
1/41 |
| Headache |
2.4% |
1/41 |
| Intellectual disability, progressive |
2.4% |
1/41 |
| Muscle weakness |
2.4% |
1/41 |
| Poor fine motor coordination |
2.4% |
1/41 |
| Ptosis |
2.4% |
1/41 |
| Severe muscular hypotonia |
2.4% |
1/41 |
| Status epilepticus |
2.4% |
1/41 |
| Tip-toe gait |
2.4% |
1/41 |
| Tremor |
2.4% |
1/41 |
| Behavioral problems |
92.9% |
39/42 |
| Autism |
61.9% |
26/42 |
| Mood swings |
47.6% |
20/42 |
| Impaired pain sensation |
38.1% |
16/42 |
| Aggressive behavior |
31.0% |
13/42 |
| Autistic behavior |
9.5% |
4/42 |
| Stereotypic behavior |
9.5% |
4/42 |
| Pain insensitivity |
7.1% |
3/42 |
| Agitation |
4.8% |
2/42 |
| Attention deficit hyperactivity disorder |
4.8% |
2/42 |
| Hyperactivity |
4.8% |
2/42 |
| Irritability |
4.8% |
2/42 |
| Punding |
4.8% |
2/42 |
| Self-injurious behavior |
4.8% |
2/42 |
| Anxiety |
2.4% |
1/42 |
| Delayed speech and language development |
2.4% |
1/42 |
| Inappropriate laughter |
2.4% |
1/42 |
| Low frustration tolerance |
2.4% |
1/42 |
| Motor delay |
2.4% |
1/42 |
| Oppositional defiant disorder |
2.4% |
1/42 |
| Polyphagia |
2.4% |
1/42 |
| Psychosis |
2.4% |
1/42 |
| Brain abnormality |
34.4% |
11/32 |
| EEG abnormality |
18.8% |
6/32 |
| Abnormal brainstem MRI signal intensity |
3.1% |
1/32 |
| Aplasia/Hypoplasia of the corpus callosum |
3.1% |
1/32 |
| Aplasia/Hypoplasia of the cerebral white matter |
3.1% |
1/32 |
| Arachnoid cyst |
3.1% |
1/32 |
| Cerebral ischemia |
3.1% |
1/32 |
| Cortical dysplasia |
3.1% |
1/32 |
| Macrocephaly |
3.1% |
1/32 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
3.0% |
1/33 |
| Bifid tragus |
3.0% |
1/33 |
| Abnormality of the eye |
18.2% |
6/33 |
| Horizontal eyebrow |
9.1% |
3/33 |
| Deeply set eye |
3.0% |
1/33 |
| Epicanthus |
3.0% |
1/33 |
| Hypertelorism |
3.0% |
1/33 |
| Upslanted palpebral fissure |
3.0% |
1/33 |
| Abnormality of the nose |
17.6% |
6/34 |
| Prominent nasal tip |
8.8% |
3/34 |
| Broad nasal tip |
2.9% |
1/34 |
| Depressed nasal bridge |
2.9% |
1/34 |
| Abnormality of the mouth |
29.4% |
10/34 |
| Exaggerated cupid's bow |
11.8% |
4/34 |
| Thick lower lip vermilion |
11.8% |
4/34 |
| Open mouth |
5.9% |
2/34 |
| Abnormality of mouth shape |
2.9% |
1/34 |
| Absent cupid's bow |
2.9% |
1/34 |
| Ankyloglossia |
2.9% |
1/34 |
| High palate |
2.9% |
1/34 |
| Prominence of the premaxilla |
2.9% |
1/34 |
| Widely spaced teeth |
2.9% |
1/34 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
6.3% |
2/32 |
| Hearing impairment |
6.3% |
2/32 |
| Abnormal vision |
23.3% |
7/30 |
| Strabismus |
10.0% |
3/30 |
| Astigmatism |
3.3% |
1/30 |
| Exotropia |
3.3% |
1/30 |
| Hyperopic astigmatism |
3.3% |
1/30 |
| Myopia |
3.3% |
1/30 |
| Heart |
|
|
| Abnormality of the heart |
2.9% |
1/35 |
| Pulmonary hypertension |
2.9% |
1/35 |
| Secundum atrial septal defect |
2.9% |
1/35 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
61.1% |
22/36 |
| Feeding difficulties |
25.0% |
9/36 |
| Constipation |
22.2% |
8/36 |
| Gastroesophageal reflux |
22.2% |
8/36 |
| Cow milk allergy |
8.3% |
3/36 |
| Diarrhea |
8.3% |
3/36 |
| Chronic constipation |
5.6% |
2/36 |
| Intermittent diarrhea |
5.6% |
2/36 |
| Chronic diarrhea |
2.8% |
1/36 |
| Failure to thrive |
2.8% |
1/36 |
| Feeding difficulties in infancy |
2.8% |
1/36 |
| Gastrointestinal inflammation |
2.8% |
1/36 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
5.6% |
2/36 |
| Bilateral cryptorchidism |
2.8% |
1/36 |
| Prominent scrotal raphe |
2.8% |
1/36 |
| Skeleton |
|
|
| Skeletal abnormalities |
62.2% |
23/37 |
| Joint hypermobility |
24.3% |
9/37 |
| Prominent fingertip pads |
21.6% |
8/37 |
| Abnormality of limbs |
16.2% |
6/37 |
| 2-3 toe syndactyly |
8.1% |
3/37 |
| Kyphoscoliosis |
5.4% |
2/37 |
| Sacral dimple |
5.4% |
2/37 |
| Large hands |
2.7% |
1/37 |
| Pectus excavatum |
2.7% |
1/37 |
| Pes planus |
2.7% |
1/37 |
| Scoliosis |
2.7% |
1/37 |
| Short fourth metatarsal |
2.7% |
1/37 |
| Short finger |
2.7% |
1/37 |
| Splayed toes |
2.7% |
1/37 |
| 2-3 toe cutaneous syndactyly |
2.7% |
1/37 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
32.4% |
12/37 |
| Fair hair |
13.5% |
5/37 |
| Fine hair |
10.8% |
4/37 |
| Abnormality of the fingernails |
2.7% |
1/37 |
| Aplasia/Hypoplasia of the nails |
2.7% |
1/37 |
| Dry skin |
2.7% |
1/37 |
| Eczematoid dermatitis |
2.7% |
1/37 |
| Eczema |
2.7% |
1/37 |
| Hemangioma |
2.7% |
1/37 |
| Nail dystrophy |
2.7% |
1/37 |
| Thick hair |
2.7% |
1/37 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
3.8% |
1/26 |
| Dysharmonic delayed bone age |
3.8% |
1/26 |
| Abnormality of the immune system |
42.9% |
15/35 |
| Recurrent infections |
28.6% |
10/35 |
| Recurrent infections in infancy and early childhood |
8.6% |
3/35 |
| Conjunctivitis |
2.9% |
1/35 |
| Esophagitis |
2.9% |
1/35 |
| Recurrent otitis media |
2.9% |
1/35 |