| Gender |
|
|
| Male |
73.0% |
27/37 |
| Female |
27.0% |
10/37 |
| Indifferent |
0% |
0/37 |
| Unknown |
0% |
0/37 |
| General |
|
|
| Birth Length abnormalities |
2.7% |
1/37 |
| > P98 : Birth length greater than 97th percentile |
2.7% |
1/37 |
| Birth Weight abnormalities |
5.4% |
2/37 |
| > P98 : Large for gestational age |
2.7% |
1/37 |
| < P3 : Small for gestational age |
2.7% |
1/37 |
| Birth Head circumference abnormalities |
2.7% |
1/37 |
| > P98 : Macrocephaly at birth |
2.7% |
1/37 |
| Current Height abnormalities |
16.2% |
6/37 |
| > P98 : Tall stature |
10.8% |
4/37 |
| < P3 : Short stature |
5.4% |
2/37 |
| Current Weight abnormalities |
16.2% |
6/37 |
| > P98 : Increased body weight |
13.5% |
5/37 |
| < P3 : Decreased body weight |
2.7% |
1/37 |
| Current Head circumference abnormalities |
37.8% |
14/37 |
| < P3 : Microcephaly |
10.8% |
4/37 |
| > P98 : Macrocephaly |
27.0% |
10/37 |
| Neurology |
|
|
| Neurological abnormalities |
80.0% |
28/35 |
| Generalized hypotonia |
45.7% |
16/35 |
| Hypotonia |
14.3% |
5/35 |
| Seizure |
11.4% |
4/35 |
| Ataxia |
5.7% |
2/35 |
| Broad-based gait |
5.7% |
2/35 |
| Absent speech |
2.9% |
1/35 |
| Atonic seizure |
2.9% |
1/35 |
| Autism |
2.9% |
1/35 |
| Disturbed sensory perception |
2.9% |
1/35 |
| Drooling |
2.9% |
1/35 |
| Facial hypotonia |
2.9% |
1/35 |
| Failure to thrive |
2.9% |
1/35 |
| Focal-onset seizure |
2.9% |
1/35 |
| Generalized myoclonic seizure |
2.9% |
1/35 |
| Involuntary movements |
2.9% |
1/35 |
| Language impairment |
2.9% |
1/35 |
| obsolete Poor coordination |
2.9% |
1/35 |
| Photophobia |
2.9% |
1/35 |
| Poor fine motor coordination |
2.9% |
1/35 |
| Spasticity |
2.9% |
1/35 |
| Typical absence seizure |
2.9% |
1/35 |
| Unsteady gait |
2.9% |
1/35 |
| Behavioral problems |
81.3% |
13/16 |
| Anxiety |
43.8% |
7/16 |
| Autistic behavior |
25.0% |
4/16 |
| Depression |
25.0% |
4/16 |
| Compulsive behaviors |
6.3% |
1/16 |
| Delayed speech and language development |
6.3% |
1/16 |
| Fatigue |
6.3% |
1/16 |
| Feeding difficulties in infancy |
6.3% |
1/16 |
| Hair-pulling |
6.3% |
1/16 |
| Impulsivity |
6.3% |
1/16 |
| Sleep disturbance |
6.3% |
1/16 |
| Brain abnormality |
72.7% |
16/22 |
| Abnormal corpus callosum morphology |
27.3% |
6/22 |
| Chiari malformation |
13.6% |
3/22 |
| Enlarged cerebellum |
13.6% |
3/22 |
| Extra-axial cerebrospinal fluid accumulation |
13.6% |
3/22 |
| Macrocephaly |
13.6% |
3/22 |
| Abnormal cerebellar vermis morphology |
9.1% |
2/22 |
| Enlarged cisterna magna |
9.1% |
2/22 |
| Polymicrogyria |
9.1% |
2/22 |
| Abnormality of lingual tonsil |
4.5% |
1/22 |
| Abnormal brainstem morphology |
4.5% |
1/22 |
| Abnormal cerebral white matter morphology |
4.5% |
1/22 |
| Agenesis of corpus callosum |
4.5% |
1/22 |
| Brain atrophy |
4.5% |
1/22 |
| Cerebellar hypoplasia |
4.5% |
1/22 |
| Cerebral calcification |
4.5% |
1/22 |
| Delayed CNS myelination |
4.5% |
1/22 |
| Delayed myelination |
4.5% |
1/22 |
| Dilation of Virchow-Robin spaces |
4.5% |
1/22 |
| Enlarged posterior fossa |
4.5% |
1/22 |
| Enlarged brainstem |
4.5% |
1/22 |
| Small posterior fossa |
4.5% |
1/22 |
| Ventriculomegaly |
4.5% |
1/22 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
57.6% |
19/33 |
| Abnormality of the ear |
60.6% |
20/33 |
| Overfolded helix |
9.1% |
3/33 |
| Acute otitis media |
6.1% |
2/33 |
| obsolete Low-set, posteriorly rotated ears |
6.1% |
2/33 |
| Posteriorly rotated ears |
6.1% |
2/33 |
| Preauricular pit |
6.1% |
2/33 |
| Abnormality of the outer ear |
3.0% |
1/33 |
| Anteverted ears |
3.0% |
1/33 |
| Low-set ears |
3.0% |
1/33 |
| Microtia |
3.0% |
1/33 |
| Otitis media |
3.0% |
1/33 |
| Prominent superior crus of antihelix |
3.0% |
1/33 |
| Prominent inferior crus of antihelix |
3.0% |
1/33 |
| Thickened helices |
3.0% |
1/33 |
| Thin ear helix |
3.0% |
1/33 |
| Underdeveloped superior crus of antihelix |
3.0% |
1/33 |
| Uplifted earlobe |
3.0% |
1/33 |
| Abnormality of the eye |
58.3% |
21/36 |
| Deeply set eye |
22.2% |
8/36 |
| Periorbital fullness |
13.9% |
5/36 |
| Strabismus |
11.1% |
4/36 |
| Long palpebral fissure |
8.3% |
3/36 |
| Synophrys |
8.3% |
3/36 |
| Epicanthus |
5.6% |
2/36 |
| Esotropia |
5.6% |
2/36 |
| Highly arched eyebrow |
5.6% |
2/36 |
| obsolete Prominent epicanthal folds |
5.6% |
2/36 |
| Thick eyebrow |
5.6% |
2/36 |
| Abnormal eyelash morphology |
2.8% |
1/36 |
| Almond-shaped palpebral fissure |
2.8% |
1/36 |
| Amblyopia |
2.8% |
1/36 |
| Bilateral ptosis |
2.8% |
1/36 |
| Blue sclerae |
2.8% |
1/36 |
| Broad eyebrow |
2.8% |
1/36 |
| Downslanted palpebral fissures |
2.8% |
1/36 |
| Ectropion |
2.8% |
1/36 |
| Hypertelorism |
2.8% |
1/36 |
| Long eyelashes |
2.8% |
1/36 |
| Nasolacrimal duct obstruction |
2.8% |
1/36 |
| Telecanthus |
2.8% |
1/36 |
| Abnormality of the nose |
45.2% |
14/31 |
| Abnormality of the nose |
48.4% |
15/31 |
| Depressed nasal bridge |
9.7% |
3/31 |
| Bulbous nose |
6.5% |
2/31 |
| Wide nasal bridge |
6.5% |
2/31 |
| Abnormal nasal septum morphology |
3.2% |
1/31 |
| Abnormal external nose morphology |
3.2% |
1/31 |
| Broad nasal tip |
3.2% |
1/31 |
| Hypertelorism |
3.2% |
1/31 |
| Prominent nasal bridge |
3.2% |
1/31 |
| Short nose |
3.2% |
1/31 |
| Velopharyngeal insufficiency |
3.2% |
1/31 |
| Wide nose |
3.2% |
1/31 |
| Abnormality of the mouth |
77.8% |
28/36 |
| High palate |
19.4% |
7/36 |
| Thin upper lip vermilion |
19.4% |
7/36 |
| Narrow mouth |
11.1% |
4/36 |
| Ankyloglossia |
8.3% |
3/36 |
| Dental malocclusion |
8.3% |
3/36 |
| Downturned corners of mouth |
8.3% |
3/36 |
| Abnormality of the philtrum |
5.6% |
2/36 |
| Carious teeth |
5.6% |
2/36 |
| Cleft palate |
5.6% |
2/36 |
| Narrow palate |
5.6% |
2/36 |
| Smooth philtrum |
5.6% |
2/36 |
| Thin lower lip vermilion |
5.6% |
2/36 |
| Abnormality of dental eruption |
2.8% |
1/36 |
| Abnormality of the chin |
2.8% |
1/36 |
| Anterior open-bite malocclusion |
2.8% |
1/36 |
| Bifid uvula |
2.8% |
1/36 |
| Cleft soft palate |
2.8% |
1/36 |
| Curved linear dimple below the lower lip |
2.8% |
1/36 |
| Delayed eruption of teeth |
2.8% |
1/36 |
| Everted upper lip vermilion |
2.8% |
1/36 |
| Hypernasal speech |
2.8% |
1/36 |
| Laryngeal cleft |
2.8% |
1/36 |
| Laryngomalacia |
2.8% |
1/36 |
| Long philtrum |
2.8% |
1/36 |
| Micrognathia |
2.8% |
1/36 |
| Midface retrusion |
2.8% |
1/36 |
| Short uvula |
2.8% |
1/36 |
| Short chin |
2.8% |
1/36 |
| Tented upper lip vermilion |
2.8% |
1/36 |
| Thick vermilion border |
2.8% |
1/36 |
| Widely spaced teeth |
2.8% |
1/36 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
8.3% |
3/36 |
| Conductive hearing impairment |
5.6% |
2/36 |
| Mixed hearing impairment |
2.8% |
1/36 |
| Sensorineural hearing impairment |
2.8% |
1/36 |
| Abnormal vision |
25.7% |
9/35 |
| Hypermetropia |
17.1% |
6/35 |
| Amblyopia |
2.9% |
1/35 |
| Astigmatism |
2.9% |
1/35 |
| Cerebral visual impairment |
2.9% |
1/35 |
| Myopia |
2.9% |
1/35 |
| Heart |
|
|
| Abnormality of the heart |
37.8% |
14/37 |
| Atrial septal defect |
8.1% |
3/37 |
| Bicuspid aortic valve |
8.1% |
3/37 |
| Ventricular septal defect |
8.1% |
3/37 |
| Patent foramen ovale |
5.4% |
2/37 |
| Patent ductus arteriosus |
5.4% |
2/37 |
| Abnormal atrial septum morphology |
2.7% |
1/37 |
| Heart murmur |
2.7% |
1/37 |
| Interrupted aortic arch |
2.7% |
1/37 |
| Left superior vena cava draining to coronary sinus |
2.7% |
1/37 |
| Mesocardia |
2.7% |
1/37 |
| Patent ductus arteriosus after birth at term |
2.7% |
1/37 |
| Perimembranous ventricular septal defect |
2.7% |
1/37 |
| Secundum atrial septal defect |
2.7% |
1/37 |
| Subvalvular aortic stenosis |
2.7% |
1/37 |
| Pulmonary |
|
|
| Abnormality of the lungs |
32.4% |
12/37 |
| Obstructive sleep apnea |
10.8% |
4/37 |
| Asthma |
5.4% |
2/37 |
| Pneumonia |
5.4% |
2/37 |
| Aspiration pneumonia |
2.7% |
1/37 |
| Hypoplasia of the maxilla |
2.7% |
1/37 |
| Immotile cilia |
2.7% |
1/37 |
| Recurrent pneumonia |
2.7% |
1/37 |
| Recurrent upper respiratory tract infections |
2.7% |
1/37 |
| Upper airway obstruction |
2.7% |
1/37 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
73.0% |
27/37 |
| Constipation |
32.4% |
12/37 |
| Feeding difficulties |
16.2% |
6/37 |
| Gastroesophageal reflux |
16.2% |
6/37 |
| Chronic constipation |
10.8% |
4/37 |
| Feeding difficulties in infancy |
8.1% |
3/37 |
| Poor suck |
8.1% |
3/37 |
| Failure to thrive |
5.4% |
2/37 |
| Diarrhea |
2.7% |
1/37 |
| Dysphagia |
2.7% |
1/37 |
| Gastrointestinal inflammation |
2.7% |
1/37 |
| Gastrostomy tube feeding in infancy |
2.7% |
1/37 |
| Intermittent diarrhea |
2.7% |
1/37 |
| Oral motor hypotonia |
2.7% |
1/37 |
| Polyphagia |
2.7% |
1/37 |
| Velopharyngeal insufficiency |
2.7% |
1/37 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
29.7% |
11/37 |
| Bilateral cryptorchidism |
8.1% |
3/37 |
| Cryptorchidism |
5.4% |
2/37 |
| Abnormal renal corticomedullary differentiation |
2.7% |
1/37 |
| Abnormal preputium morphology |
2.7% |
1/37 |
| Aplasia/Hypoplasia of the testes |
2.7% |
1/37 |
| Inguinal hernia |
2.7% |
1/37 |
| Micropenis |
2.7% |
1/37 |
| Multicystic kidney dysplasia |
2.7% |
1/37 |
| Nocturia |
2.7% |
1/37 |
| Unilateral renal dysplasia |
2.7% |
1/37 |
| Urinary incontinence |
2.7% |
1/37 |
| Skeleton |
|
|
| Skeletal abnormalities |
64.9% |
24/37 |
| Joint hypermobility |
8.1% |
3/37 |
| obsolete Joint laxity |
8.1% |
3/37 |
| Pes planus |
8.1% |
3/37 |
| Tapered finger |
8.1% |
3/37 |
| Broad thumb |
5.4% |
2/37 |
| Narrow chest |
5.4% |
2/37 |
| Single transverse palmar crease |
5.4% |
2/37 |
| Sprengel anomaly |
5.4% |
2/37 |
| Abnormal buccal fat pad morphology |
2.7% |
1/37 |
| Abnormal finger morphology |
2.7% |
1/37 |
| Abnormal sternum morphology |
2.7% |
1/37 |
| Acetabular dysplasia |
2.7% |
1/37 |
| Achilles tendon contracture |
2.7% |
1/37 |
| Asymmetric growth |
2.7% |
1/37 |
| Brachydactyly |
2.7% |
1/37 |
| Broad foot |
2.7% |
1/37 |
| Calcaneovalgus deformity |
2.7% |
1/37 |
| Clinodactyly of the 3rd toe |
2.7% |
1/37 |
| Clinodactyly of the 5th toe |
2.7% |
1/37 |
| Clinodactyly of the 4th toe |
2.7% |
1/37 |
| Clinodactyly of the 2nd toe |
2.7% |
1/37 |
| Clinodactyly |
2.7% |
1/37 |
| Disproportionate tall stature |
2.7% |
1/37 |
| Genu valgum |
2.7% |
1/37 |
| Hemifacial hypertrophy |
2.7% |
1/37 |
| Hemihypotrophy of lower limb |
2.7% |
1/37 |
| Hip dislocation |
2.7% |
1/37 |
| Hypertonia |
2.7% |
1/37 |
| Hypermobility of interphalangeal joints |
2.7% |
1/37 |
| Hypoplasia of the phalanges of the toes |
2.7% |
1/37 |
| Increased muscle fatiguability |
2.7% |
1/37 |
| Interphalangeal joint contracture of finger |
2.7% |
1/37 |
| Kyphosis |
2.7% |
1/37 |
| Metatarsus adductus |
2.7% |
1/37 |
| Mild short stature |
2.7% |
1/37 |
| Muscle stiffness |
2.7% |
1/37 |
| Overlapping toe |
2.7% |
1/37 |
| Pectus excavatum |
2.7% |
1/37 |
| Pectus carinatum |
2.7% |
1/37 |
| Prominent calcaneus |
2.7% |
1/37 |
| Scoliosis |
2.7% |
1/37 |
| Short foot |
2.7% |
1/37 |
| Short finger |
2.7% |
1/37 |
| Small finger |
2.7% |
1/37 |
| Small toe |
2.7% |
1/37 |
| Splayed toes |
2.7% |
1/37 |
| Tall stature |
2.7% |
1/37 |
| Webbed neck |
2.7% |
1/37 |
| 2-3 toe syndactyly |
2.7% |
1/37 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
45.9% |
17/37 |
| Abnormality of the skin |
48.6% |
18/37 |
| Single transverse palmar crease |
13.5% |
5/37 |
| Acne |
8.1% |
3/37 |
| Prominent fingertip pads |
5.4% |
2/37 |
| Cafe-au-lait spot |
2.7% |
1/37 |
| Capillary hemangioma |
2.7% |
1/37 |
| Eczematoid dermatitis |
2.7% |
1/37 |
| Heat intolerance |
2.7% |
1/37 |
| High anterior hairline |
2.7% |
1/37 |
| Hyperpigmentation of the skin |
2.7% |
1/37 |
| Hypertrichosis |
2.7% |
1/37 |
| Hypopigmentation of the skin |
2.7% |
1/37 |
| Melanocytic nevus |
2.7% |
1/37 |
| Nevus |
2.7% |
1/37 |
| Nevus flammeus |
2.7% |
1/37 |
| Numerous congenital melanocytic nevi |
2.7% |
1/37 |
| Skin rash |
2.7% |
1/37 |
| Telangiectasia of the skin |
2.7% |
1/37 |
| Umbilical hernia |
2.7% |
1/37 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
8.6% |
3/35 |
| Delayed puberty |
2.9% |
1/35 |
| Hypothyroidism |
2.9% |
1/35 |
| Neonatal hypoglycemia |
2.9% |
1/35 |
| Abnormality of the metabolic system |
9.7% |
3/31 |
| Decreased circulating vitamin D concentration |
3.2% |
1/31 |
| Decreased circulating carnitine concentration |
3.2% |
1/31 |
| Hyperammonemia |
3.2% |
1/31 |
| Abnormality of the immune system |
18.9% |
7/37 |
| Abnormal thymus morphology |
2.7% |
1/37 |
| Bronchitis |
2.7% |
1/37 |
| Decreased circulating IgA concentration |
2.7% |
1/37 |
| Decreased total neutrophil count |
2.7% |
1/37 |
| Decreased circulating IgG concentration |
2.7% |
1/37 |
| Decreased circulating immunoglobulin concentration |
2.7% |
1/37 |
| Edema of the dorsum of hands |
2.7% |
1/37 |
| Otitis media |
2.7% |
1/37 |
| Recurrent fever |
2.7% |
1/37 |
| Recurrent infections |
2.7% |
1/37 |