| Gender |
|
|
| Male |
51.1% |
115/225 |
| Female |
48.9% |
110/225 |
| General |
|
|
| Motor delay |
98.9% |
182/184 |
| Bilateral cryptorchidism |
0.5% |
1/184 |
| Abnormal renal morphology |
0.5% |
1/184 |
| Hydronephrosis |
0.5% |
1/184 |
| Intellectual disabillity |
98.1% |
204/208 |
| Bilateral cryptorchidism |
0.5% |
1/208 |
| Abnormal renal morphology |
0.5% |
1/208 |
| Hydronephrosis |
0.5% |
1/208 |
| Neurology |
|
|
| Neurological abnormalities |
85.1% |
172/202 |
| Seizures |
16.3% |
33/202 |
| Absence seizures |
2.0% |
4/202 |
| Febrile seizures |
3.5% |
7/202 |
| Generalized hypotonia |
19.3% |
39/202 |
| Impaired pain sensation |
5.9% |
12/202 |
| Generalized tonic-clonic seizures |
7.4% |
15/202 |
| EEG abnormality |
4.0% |
8/202 |
| Neonatal hypotonia |
8.9% |
18/202 |
| Atonic seizures |
0.5% |
1/202 |
| Muscular hypotonia |
30.7% |
62/202 |
| Abnormality of pain sensation |
2.5% |
5/202 |
| Poor fine motor coordination |
1.0% |
2/202 |
| Focal seizures with impairment of consciousness or awareness |
2.5% |
5/202 |
| Focal seizures |
1.0% |
2/202 |
| Headache |
0.5% |
1/202 |
| Generalized tonic seizures |
1.0% |
2/202 |
| Generalized myoclonic seizures |
1.0% |
2/202 |
| Unsteady gait |
0.5% |
1/202 |
| Developmental regression |
1.0% |
2/202 |
| Gait imbalance |
0.5% |
1/202 |
| Cerebral palsy |
0.5% |
1/202 |
| Broad-based gait |
1.0% |
2/202 |
| Ataxia |
0.5% |
1/202 |
| Infantile axial hypotonia |
0.5% |
1/202 |
| Hyperreflexia |
1.5% |
3/202 |
| Motor delay |
2.0% |
4/202 |
| Muscular hypotonia of the trunk |
0.5% |
1/202 |
| Global developmental delay |
0.5% |
1/202 |
| Lower limb hyperreflexia |
1.0% |
2/202 |
| Visual agnosia |
3.5% |
7/202 |
| Impaired visuospatial constructive cognition |
3.5% |
7/202 |
| Astereognosia |
3.5% |
7/202 |
| Lower limb hypertonia |
1.0% |
2/202 |
| Upper limb hypertonia |
1.0% |
2/202 |
| Infantile muscular hypotonia |
0.5% |
1/202 |
| Torticollis |
0.5% |
1/202 |
| Oromandibular dystonia |
0.5% |
1/202 |
| Exercise intolerance |
0.5% |
1/202 |
| Poor gross motor coordination |
0.5% |
1/202 |
| Dysarthria |
0.5% |
1/202 |
| Gait disturbance |
0.5% |
1/202 |
| Postural instability |
0.5% |
1/202 |
| Dysmetria |
0.5% |
1/202 |
| Dysdiadochokinesis |
0.5% |
1/202 |
| Focal seizures without impairment of consciousness or awareness |
1.0% |
2/202 |
| Gait ataxia |
1.5% |
3/202 |
| Central hypotonia |
4.0% |
8/202 |
| Posterior fossa cyst |
0.5% |
1/202 |
| Abnormality of the subarachnoid space |
0.5% |
1/202 |
| Colpocephaly |
1.0% |
2/202 |
| Dysplastic corpus callosum |
0.5% |
1/202 |
| Widened subarachnoid space |
0.5% |
1/202 |
| Partial agenesis of the corpus callosum |
0.5% |
1/202 |
| Delayed myelination |
1.0% |
2/202 |
| Abnormality of the corpus callosum |
0.5% |
1/202 |
| Agenesis of corpus callosum |
0.5% |
1/202 |
| Gait apraxia |
0.5% |
1/202 |
| Hypertonia |
0.5% |
1/202 |
| Generalized seizures |
0.5% |
1/202 |
| Behavioral problems |
67.8% |
122/180 |
| Short attention span |
11.1% |
20/180 |
| Anxiety |
2.8% |
5/180 |
| Hyperactivity |
24.4% |
44/180 |
| Attention deficit hyperactivity disorder |
13.9% |
25/180 |
| Autistic behavior |
32.8% |
59/180 |
| Hyperkinesis |
5.6% |
10/180 |
| Obsessive-compulsive behavior |
7.2% |
13/180 |
| Emotional lability |
1.1% |
2/180 |
| Abnormal emotion/affect behavior |
1.1% |
2/180 |
| Impulsivity |
5.0% |
9/180 |
| Violent behavior |
0.6% |
1/180 |
| Oral aversion |
1.1% |
2/180 |
| Abnormal fear/anxiety-related behavior |
7.8% |
14/180 |
| Autism |
6.7% |
12/180 |
| Obsessive-compulsive trait |
2.2% |
4/180 |
| Clumsiness |
0.6% |
1/180 |
| Aggressive behavior |
7.2% |
13/180 |
| Impaired social interactions |
7.8% |
14/180 |
| Behavioral abnormality |
2.8% |
5/180 |
| Inflexible adherence to routines or rituals |
1.1% |
2/180 |
| Abnormal social behavior |
3.3% |
6/180 |
| Sleep disturbance |
0.6% |
1/180 |
| Repetitive compulsive behavior |
0.6% |
1/180 |
| Stereotypic behavior |
7.2% |
13/180 |
| Poor eye contact |
0.6% |
1/180 |
| Impaired ability to form peer relationships |
0.6% |
1/180 |
| Shyness |
0.6% |
1/180 |
| Phonophobia |
0.6% |
1/180 |
| Restrictive behavior |
0.6% |
1/180 |
| Impaired social reciprocity |
2.8% |
5/180 |
| Overfriendliness |
0.6% |
1/180 |
| Abnormal aggressive, impulsive or violent behavior |
1.7% |
3/180 |
| Self-injurious behavior |
1.1% |
2/180 |
| Hyperacusis |
0.6% |
1/180 |
| Developmental regression |
0.6% |
1/180 |
| Absent speech |
0.6% |
1/180 |
| Restlessness |
0.6% |
1/180 |
| Rigidity |
0.6% |
1/180 |
| Agoraphobia |
0.6% |
1/180 |
| Impaired pain sensation |
0.6% |
1/180 |
| Brain abnormality |
73.0% |
116/159 |
| Enlarged cisterna magna |
6.3% |
10/159 |
| Brain atrophy |
0.6% |
1/159 |
| Abnormality of the periventricular white matter |
0.6% |
1/159 |
| Abnormality of the corpus callosum |
3.8% |
6/159 |
| Agenesis of corpus callosum |
21.4% |
34/159 |
| Ventriculomegaly |
1.9% |
3/159 |
| Dysplastic corpus callosum |
3.1% |
5/159 |
| Hypoplasia of the corpus callosum |
8.2% |
13/159 |
| Delayed myelination |
6.9% |
11/159 |
| Arachnoid cyst |
3.1% |
5/159 |
| Partial agenesis of the corpus callosum |
8.8% |
14/159 |
| Pachygyria |
0.6% |
1/159 |
| Colpocephaly |
5.0% |
8/159 |
| Abnormality of cerebral veins |
0.6% |
1/159 |
| Aplasia/Hypoplasia of the corpus callosum |
5.7% |
9/159 |
| Intracranial cystic lesion |
1.9% |
3/159 |
| Perivascular spaces |
1.3% |
2/159 |
| Prominent supraorbital ridges |
0.6% |
1/159 |
| Hypoplastic olfactory lobes |
0.6% |
1/159 |
| Choroid plexus cyst |
1.3% |
2/159 |
| Abnormality of the cerebral cortex |
0.6% |
1/159 |
| Abnormality of the cerebellum |
0.6% |
1/159 |
| Abnormality of the cerebral white matter |
0.6% |
1/159 |
| Abnormality of corpus cavernosum |
0.6% |
1/159 |
| Heterotopia |
1.3% |
2/159 |
| Polymicrogyria |
0.6% |
1/159 |
| Arnold-Chiari type I malformation |
1.9% |
3/159 |
| Lambdoidal craniosynostosis |
0.6% |
1/159 |
| Multiple suture craniosynostosis |
0.6% |
1/159 |
| Sagittal craniosynostosis |
0.6% |
1/159 |
| Cavum septum pellucidum |
0.6% |
1/159 |
| Neonatal hypotonia |
0.6% |
1/159 |
| Asymmetric ventricles |
0.6% |
1/159 |
| Cerebellar cyst |
3.1% |
5/159 |
| Cerebellar agenesis |
0.6% |
1/159 |
| Microcephaly |
0.6% |
1/159 |
| Hydrocephalus |
0.6% |
1/159 |
| Relative macrocephaly |
0.6% |
1/159 |
| Thick corpus callosum |
3.1% |
5/159 |
| Short corpus callosum |
3.8% |
6/159 |
| Cerebellar dysplasia |
0.6% |
1/159 |
| Attention deficit hyperactivity disorder |
1.3% |
2/159 |
| Retrocerebellar cyst |
3.1% |
5/159 |
| Subarachnoid hemorrhage |
0.6% |
1/159 |
| Abnormality of lateral ventricle |
0.6% |
1/159 |
| Abnormal length of corpus callosum |
0.6% |
1/159 |
| Enlarged fetal cisterna magna |
0.6% |
1/159 |
| Hypoplasia of the brainstem |
0.6% |
1/159 |
| Abnormality of midbrain morphology |
0.6% |
1/159 |
| Seizures |
0.6% |
1/159 |
| Aplasia/Hypoplasia of the cerebrum |
1.3% |
2/159 |
| Cerebellar hypoplasia |
1.3% |
2/159 |
| Dandy-Walker malformation |
0.6% |
1/159 |
| Absent septum pellucidum |
0.6% |
1/159 |
| Abnormality of neuronal migration |
0.6% |
1/159 |
| Talipes calcaneovarus |
0.6% |
1/159 |
| Encephalopathy |
0.6% |
1/159 |
| Neoplasm of the central nervous system |
0.6% |
1/159 |
| Cerebral hypoplasia |
0.6% |
1/159 |
| Bilateral intracranial calcifications |
0.6% |
1/159 |
| Abnormality of the pons |
0.6% |
1/159 |
| Hypoplasia of the pons |
0.6% |
1/159 |
| Abnormality of forebrain morphology |
0.6% |
1/159 |
| Aplasia/Hypoplasia involving the central nervous system |
0.6% |
1/159 |
| Hypodysplasia of the corpus callosum |
0.6% |
1/159 |
| Abnormality of the choroid |
0.6% |
1/159 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
61.7% |
124/201 |
| Macrotia |
4.5% |
9/201 |
| Abnormality of the ear |
5.0% |
10/201 |
| Posteriorly rotated ears |
4.5% |
9/201 |
| Uplifted earlobe |
4.0% |
8/201 |
| Abnormality of earlobe |
1.0% |
2/201 |
| Overfolded helix |
1.5% |
3/201 |
| Forward facing earlobe |
1.5% |
3/201 |
| Cupped ear |
1.0% |
2/201 |
| Protruding ear |
5.5% |
11/201 |
| Low-set ears |
12.9% |
26/201 |
| Underdeveloped superior crus of antihelix |
1.5% |
3/201 |
| Abnormality of the pinna |
10.4% |
21/201 |
| Long eyelashes |
0.5% |
1/201 |
| Thick eyebrow |
0.5% |
1/201 |
| Abnormality of the outer ear |
4.5% |
9/201 |
| Low-set, posteriorly rotated ears |
8.0% |
16/201 |
| External ear malformation |
3.0% |
6/201 |
| Large earlobe |
0.5% |
1/201 |
| Small earlobe |
1.0% |
2/201 |
| Thickened helices |
1.0% |
2/201 |
| Asymmetry of the ears |
0.5% |
1/201 |
| Abnormal location of ears |
1.0% |
2/201 |
| Abnormality of periauricular region |
0.5% |
1/201 |
| Satyr ear |
0.5% |
1/201 |
| Preauricular pit |
1.5% |
3/201 |
| Cholesteatoma |
1.0% |
2/201 |
| Mild hearing impairment |
0.5% |
1/201 |
| Recurrent otitis media |
0.5% |
1/201 |
| Recurrent infections of the middle ear |
0.5% |
1/201 |
| Periauricular skin pits |
0.5% |
1/201 |
| Prominent crus of helix |
0.5% |
1/201 |
| Absent earlobe |
0.5% |
1/201 |
| Prominent ear helix |
0.5% |
1/201 |
| Microtia |
0.5% |
1/201 |
| Long ear |
0.5% |
1/201 |
| Abnormality of the eye |
88.3% |
182/206 |
| Long eyelashes |
48.1% |
99/206 |
| Bilateral ptosis |
3.9% |
8/206 |
| Periorbital wrinkles |
8.3% |
17/206 |
| Highly arched eyebrow |
1.9% |
4/206 |
| Muscular hypotonia of the trunk |
0.5% |
1/206 |
| Thick eyebrow |
59.7% |
123/206 |
| Downslanted palpebral fissures |
13.6% |
28/206 |
| Epicanthus |
5.8% |
12/206 |
| Upslanted palpebral fissure |
6.3% |
13/206 |
| Long palpebral fissure |
3.4% |
7/206 |
| Ptosis |
7.8% |
16/206 |
| Synophrys |
7.8% |
16/206 |
| Short eyelashes |
0.5% |
1/206 |
| Facial wrinkling |
2.4% |
5/206 |
| Small palpebral fissure |
2.9% |
6/206 |
| Abnormality of the lacrimal duct |
2.9% |
6/206 |
| Unilateral ptosis |
2.9% |
6/206 |
| Lower eyelid edema |
0.5% |
1/206 |
| Short palpebral fissure |
1.9% |
4/206 |
| Long eyebrows |
0.5% |
1/206 |
| Excessive wrinkled skin |
0.5% |
1/206 |
| Prominent epicanthal folds |
0.5% |
1/206 |
| Strabismus |
3.9% |
8/206 |
| Broad forehead |
0.5% |
1/206 |
| High forehead |
0.5% |
1/206 |
| Hypertelorism |
2.9% |
6/206 |
| Prominent eyelashes |
3.4% |
7/206 |
| Blue sclerae |
0.5% |
1/206 |
| Exotropia |
0.5% |
1/206 |
| Congenital ptosis |
0.5% |
1/206 |
| Lacrimal duct stenosis |
0.5% |
1/206 |
| Esotropia |
1.0% |
2/206 |
| Abnormality of the eyelashes |
0.5% |
1/206 |
| Horizontal nystagmus |
0.5% |
1/206 |
| Nasolacrimal duct obstruction |
1.0% |
2/206 |
| Proptosis |
1.5% |
3/206 |
| Deeply set eye |
0.5% |
1/206 |
| Lisch nodules |
0.5% |
1/206 |
| Abnormality of the periorbital region |
1.0% |
2/206 |
| Redundant skin |
0.5% |
1/206 |
| Abnormality of the nasolacrimal system |
0.5% |
1/206 |
| Periorbital fullness |
0.5% |
1/206 |
| Medial flaring of the eyebrow |
0.5% |
1/206 |
| Abnormality of the nose |
79.3% |
161/203 |
| Wide nasal bridge |
24.6% |
50/203 |
| Depressed nasal bridge |
13.3% |
27/203 |
| Anteverted nares |
18.7% |
38/203 |
| Short nose |
11.8% |
24/203 |
| Long nose |
8.9% |
18/203 |
| Thick nasal alae |
28.1% |
57/203 |
| Wide nasal base |
21.2% |
43/203 |
| Thick lower lip vermilion |
1.0% |
2/203 |
| Broad nasal tip |
43.3% |
88/203 |
| Abnormality of the nasal alae |
0.5% |
1/203 |
| Abnormality of the columella |
0.5% |
1/203 |
| Narrow nasal tip |
1.5% |
3/203 |
| Underdeveloped nasal alae |
0.5% |
1/203 |
| Prominent nasal tip |
2.5% |
5/203 |
| Bulbous nose |
4.4% |
9/203 |
| Abnormality of the nasal bridge |
0.5% |
1/203 |
| Long philtrum |
1.5% |
3/203 |
| Nasal polyposis |
0.5% |
1/203 |
| Nasal obstruction |
0.5% |
1/203 |
| Thin upper lip vermilion |
0.5% |
1/203 |
| Thin lower lip vermilion |
0.5% |
1/203 |
| Thick upper lip vermilion |
0.5% |
1/203 |
| Hypodontia |
0.5% |
1/203 |
| Narrow nasal base |
0.5% |
1/203 |
| Abnormality of the nasal tip |
0.5% |
1/203 |
| Narrow nasal bridge |
0.5% |
1/203 |
| Prominent nasal bridge |
1.0% |
2/203 |
| Prominent nose |
0.5% |
1/203 |
| Thick vermilion border |
0.5% |
1/203 |
| Papule |
0.5% |
1/203 |
| Retrognathia |
0.5% |
1/203 |
| Flat nasal alae |
0.5% |
1/203 |
| Broad philtrum |
0.5% |
1/203 |
| Abnormal nasal morphology |
0.5% |
1/203 |
| Wide nose |
1.0% |
2/203 |
| Low hanging columella |
0.5% |
1/203 |
| Abnormality of the mouth |
92.7% |
190/205 |
| Long philtrum |
25.9% |
53/205 |
| Wide mouth |
54.1% |
111/205 |
| Thick upper lip vermilion |
21.0% |
43/205 |
| Thick lower lip vermilion |
52.7% |
108/205 |
| Abnormality of dental enamel |
1.0% |
2/205 |
| Prominent palatine ridges |
0.5% |
1/205 |
| Delayed eruption of primary teeth |
12.2% |
25/205 |
| Delayed eruption of permanent teeth |
6.8% |
14/205 |
| Widely spaced teeth |
14.1% |
29/205 |
| Thin upper lip vermilion |
28.8% |
59/205 |
| Everted lower lip vermilion |
20.5% |
42/205 |
| Hypodontia |
3.9% |
8/205 |
| High palate |
10.7% |
22/205 |
| Broad philtrum |
18.0% |
37/205 |
| Short philtrum |
13.7% |
28/205 |
| Bifid uvula |
2.0% |
4/205 |
| Cleft palate |
4.9% |
10/205 |
| Mandibular prognathia |
1.0% |
2/205 |
| Gingival overgrowth |
5.4% |
11/205 |
| Everted upper lip vermilion |
0.5% |
1/205 |
| Ankyloglossia |
0.5% |
1/205 |
| Advanced eruption of teeth |
0.5% |
1/205 |
| Open mouth |
2.0% |
4/205 |
| Abnormality of mouth size |
0.5% |
1/205 |
| Coarse facial features |
2.4% |
5/205 |
| Abnormality of the gingiva |
0.5% |
1/205 |
| Abnormality of the philtrum |
1.5% |
3/205 |
| Microdontia |
2.0% |
4/205 |
| Misalignment of teeth |
0.5% |
1/205 |
| Widely spaced primary teeth |
0.5% |
1/205 |
| Excessive salivation |
0.5% |
1/205 |
| Overbite |
0.5% |
1/205 |
| Macroglossia |
2.4% |
5/205 |
| Thin lower lip vermilion |
0.5% |
1/205 |
| Submucous cleft soft palate |
0.5% |
1/205 |
| Short chin |
0.5% |
1/205 |
| Micrognathia |
4.4% |
9/205 |
| Downturned corners of mouth |
0.5% |
1/205 |
| Widely-spaced incisors |
0.5% |
1/205 |
| Thick vermilion border |
0.5% |
1/205 |
| Protruding tongue |
0.5% |
1/205 |
| Smooth philtrum |
0.5% |
1/205 |
| Carious teeth |
1.0% |
2/205 |
| Submucous cleft lip |
0.5% |
1/205 |
| Conical tooth |
0.5% |
1/205 |
| Retrognathia |
0.5% |
1/205 |
| Small, conical teeth |
0.5% |
1/205 |
| Dental malocclusion |
0.5% |
1/205 |
| Absent speech |
0.5% |
1/205 |
| High, narrow palate |
1.0% |
2/205 |
| Abnormality of the tongue |
0.5% |
1/205 |
| Growth delay |
0.5% |
1/205 |
| Pes planus |
0.5% |
1/205 |
| Cleft soft palate |
0.5% |
1/205 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
25.5% |
49/192 |
| Bilateral conductive hearing impairment |
1.6% |
3/192 |
| Hearing impairment |
14.1% |
27/192 |
| Otitis media |
0.5% |
1/192 |
| Conductive hearing impairment |
3.6% |
7/192 |
| Hyperacusis |
0.5% |
1/192 |
| Abnormality of the middle ear |
0.5% |
1/192 |
| Sensorineural hearing impairment |
0.5% |
1/192 |
| Severe hearing impairment |
0.5% |
1/192 |
| Mild hearing impairment |
1.0% |
2/192 |
| Abnormality of the tympanic membrane |
0.5% |
1/192 |
| Mixed hearing impairment |
0.5% |
1/192 |
| Bilateral sensorineural hearing impairment |
1.6% |
3/192 |
| Moderate sensorineural hearing impairment |
1.6% |
3/192 |
| Severe sensorineural hearing impairment |
1.0% |
2/192 |
| Moderate conductive hearing impairment |
0.5% |
1/192 |
| Mild conductive hearing impairment |
0.5% |
1/192 |
| Unilateral |
0.5% |
1/192 |
| Recurrent otitis media |
0.5% |
1/192 |
| Glue ear |
2.6% |
5/192 |
| Hearing abnormality |
0.5% |
1/192 |
| Abnormal vision |
56.0% |
102/182 |
| Nystagmus |
3.8% |
7/182 |
| Severe Myopia |
6.0% |
11/182 |
| Myopia |
21.4% |
39/182 |
| Visual impairment |
7.7% |
14/182 |
| Astigmatism |
7.1% |
13/182 |
| Abnormality of refraction |
3.3% |
6/182 |
| Hypermetropia |
6.0% |
11/182 |
| Esotropia |
0.5% |
1/182 |
| Strabismus |
12.1% |
22/182 |
| Unilateral strabismus |
1.6% |
3/182 |
| Optic nerve hypoplasia |
1.1% |
2/182 |
| Coloboma |
0.5% |
1/182 |
| Corneal ulceration |
0.5% |
1/182 |
| Blurred vision |
0.5% |
1/182 |
| Cortical visual impairment |
0.5% |
1/182 |
| Exotropia |
2.2% |
4/182 |
| Amblyopia |
1.1% |
2/182 |
| Optic nerve coloboma |
0.5% |
1/182 |
| Increased intraocular pressure |
0.5% |
1/182 |
| Cataract |
0.5% |
1/182 |
| Abnormality of the optic disc |
0.5% |
1/182 |
| Peripapillary chorioretinal atrophy |
0.5% |
1/182 |
| Keratoconus |
0.5% |
1/182 |
| Congenital cataract |
0.5% |
1/182 |
| Abnormality of vision |
1.1% |
2/182 |
| Heart |
|
|
| Abnormality of the heart |
25.3% |
45/178 |
| Atria septal defect |
10.1% |
18/178 |
| Mitral regurgitation |
1.7% |
3/178 |
| Atrioventricular block |
0.6% |
1/178 |
| Patent foramen ovale |
2.2% |
4/178 |
| Ventricular septal defect |
4.5% |
8/178 |
| Abnormality of the tricuspid valve |
0.6% |
1/178 |
| Atrioventricular canal defect |
0.6% |
1/178 |
| Coarctation of aorta |
1.1% |
2/178 |
| Bicuspid aortic valve |
1.1% |
2/178 |
| Abnormality of the aortic valve |
1.7% |
3/178 |
| Abnormality of the atrial septum |
1.1% |
2/178 |
| Cyanosis |
0.6% |
1/178 |
| Bradycardia |
0.6% |
1/178 |
| Heart murmur |
1.7% |
3/178 |
| Non-restrictive ventricular septal defect |
0.6% |
1/178 |
| Patent ductus arteriosus |
0.6% |
1/178 |
| Secundum atrial septal defect |
0.6% |
1/178 |
| Left-to-right shunt |
0.6% |
1/178 |
| Abnormal heart morphology |
1.1% |
2/178 |
| Abnormality of the cardiac septa |
0.6% |
1/178 |
| Right ventricular dilatation |
0.6% |
1/178 |
| Primum atrial septal defect |
0.6% |
1/178 |
| Abnormality of the aortic arch |
1.1% |
2/178 |
| Abnormality of the left ventricle |
0.6% |
1/178 |
| Abnormality of the vasculature |
0.6% |
1/178 |
| Pulmonary |
|
|
| Abnormality of the lungs |
10.0% |
1/10 |
| Asthma |
10.0% |
1/10 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
60.0% |
108/180 |
| Constipation |
21.7% |
39/180 |
| Diarrhea |
2.8% |
5/180 |
| Gastroesophageal reflux |
13.3% |
24/180 |
| Feeding difficulties |
11.1% |
20/180 |
| Feeding difficulties in infancy |
16.7% |
30/180 |
| Lactose intolerance |
1.1% |
2/180 |
| Aspiration |
0.6% |
1/180 |
| Gastrostomy tube feeding in infancy |
1.7% |
3/180 |
| Inguinal hernia |
2.8% |
5/180 |
| Hiatus hernia |
0.6% |
1/180 |
| Esophagitis |
0.6% |
1/180 |
| Nasogastric tube feeding in infancy |
1.7% |
3/180 |
| Pyloric stenosis |
1.1% |
2/180 |
| Laryngomalacia |
1.1% |
2/180 |
| Umbilical hernia |
4.4% |
8/180 |
| Episodic vomiting |
0.6% |
1/180 |
| Abnormality of the intestine |
1.1% |
2/180 |
| Hernia of the abdominal wall |
1.1% |
2/180 |
| Anal fistula |
0.6% |
1/180 |
| Poor suck |
1.7% |
3/180 |
| Failure to thrive in infancy |
1.1% |
2/180 |
| Failure to thrive |
1.1% |
2/180 |
| Dehydration |
0.6% |
1/180 |
| Cow milk allergy |
0.6% |
1/180 |
| Malnutrition |
0.6% |
1/180 |
| Intestinal malrotation |
0.6% |
1/180 |
| Vomiting |
1.1% |
2/180 |
| Hyperinsulinemia |
0.6% |
1/180 |
| Intestinal lymphangiectasia |
0.6% |
1/180 |
| Intestinal obstruction |
0.6% |
1/180 |
| Celiac disease |
0.6% |
1/180 |
| Abnormality of the gastrointestinal tract |
0.6% |
1/180 |
| Abnormal vascular physiology |
0.6% |
1/180 |
| Ulcerative colitis |
0.6% |
1/180 |
| Hepatosplenomegaly |
0.6% |
1/180 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
40.7% |
68/167 |
| Abnormality of the urinary system |
1.2% |
2/167 |
| Bilateral cryptorchidism |
13.2% |
22/167 |
| Inguinal hernia |
2.4% |
4/167 |
| Enuresis nocturna |
0.6% |
1/167 |
| Proteinuria |
0.6% |
1/167 |
| Unilateral cryptorchidism |
7.8% |
13/167 |
| Abnormality of the kidney |
0.6% |
1/167 |
| Cryptorchidism |
8.4% |
14/167 |
| Aplasia of the uterus |
0.6% |
1/167 |
| Aplasia of the upper vagina |
0.6% |
1/167 |
| Vesicoureteral reflux |
1.2% |
2/167 |
| Nephrolithiasis |
3.0% |
5/167 |
| Hydronephrosis |
2.4% |
4/167 |
| Retractile testis |
2.4% |
4/167 |
| Abnormality of the testis |
0.6% |
1/167 |
| Abnormality of the penis |
1.2% |
2/167 |
| Increased size of the clitoris |
1.2% |
2/167 |
| Hydrocele testis |
0.6% |
1/167 |
| Urinary retention |
0.6% |
1/167 |
| Hypoplastic male external genitalia |
0.6% |
1/167 |
| Webbed penis |
0.6% |
1/167 |
| Scrotal hypoplasia |
0.6% |
1/167 |
| Pyelonephritis |
0.6% |
1/167 |
| Clitoral hypertrophy |
0.6% |
1/167 |
| Hydroureter |
0.6% |
1/167 |
| Nephrocalcinosis |
0.6% |
1/167 |
| Stage 5 chronic kidney disease |
0.6% |
1/167 |
| Abnormality of the urinary system physiology |
0.6% |
1/167 |
| Abnormal renal morphology |
0.6% |
1/167 |
| Unilateral renal atrophy |
0.6% |
1/167 |
| Urethral valve |
0.6% |
1/167 |
| Skeleton |
|
|
| Skeletal abnormalities |
86.4% |
172/199 |
| Clinodactyly |
14.6% |
29/199 |
| Hip dislocation |
0.5% |
1/199 |
| Short 5th finger |
12.1% |
24/199 |
| Short phalanx of finger |
8.5% |
17/199 |
| Short distal phalanx of finger |
12.1% |
24/199 |
| Delayed skeletal maturation |
10.1% |
20/199 |
| Scoliosis |
21.1% |
42/199 |
| Prominent interphalangeal joints |
13.6% |
27/199 |
| Abnormality of the neck |
6.0% |
12/199 |
| Abnormality of the sternum |
5.5% |
11/199 |
| Adducted thumb |
0.5% |
1/199 |
| Long hallux |
6.5% |
13/199 |
| Arthritis |
2.0% |
4/199 |
| Brachydactyly syndrome |
8.5% |
17/199 |
| Abnormality of the distal phalanx of the 5th finger |
19.6% |
39/199 |
| Triphalangeal thumb |
1.0% |
2/199 |
| Sandal gap |
10.6% |
21/199 |
| Cone-shaped epiphysis |
1.5% |
3/199 |
| Abnormality of the phalanges of the 5th finger |
0.5% |
1/199 |
| Aplasia/Hypoplasia of the phalanges of the 5th toe |
0.5% |
1/199 |
| Symphalangism affecting the phalanges of the 5th toe |
0.5% |
1/199 |
| Hyperlordosis |
1.0% |
2/199 |
| Pes planus |
3.0% |
6/199 |
| Aplasia/Hypoplasia of the phalanges of the hand |
1.0% |
2/199 |
| Patellar dislocation |
1.5% |
3/199 |
| Prominent fingertip pads |
3.0% |
6/199 |
| Accelerated skeletal maturation |
1.0% |
2/199 |
| Aplasia/Hypoplasia of fingers |
0.5% |
1/199 |
| Joint hypermobility |
1.5% |
3/199 |
| Aplasia/Hypoplasia of the distal phalanges of the hand |
0.5% |
1/199 |
| Talipes valgus |
0.5% |
1/199 |
| Aplasia/Hypoplasia of the distal phalanges of the toes |
0.5% |
1/199 |
| Short metacarpal |
1.0% |
2/199 |
| Short metatarsal |
1.0% |
2/199 |
| Camptodactyly of finger |
0.5% |
1/199 |
| Short hallux |
0.5% |
1/199 |
| Spondylolysis |
0.5% |
1/199 |
| Short sternum |
0.5% |
1/199 |
| Abnormality of the thumb |
1.5% |
3/199 |
| Abnormality of the vertebrae |
0.5% |
1/199 |
| Aplasia/Hypoplasia of the 2nd finger |
0.5% |
1/199 |
| Overlapping toe |
0.5% |
1/199 |
| Sparse scalp hair |
0.5% |
1/199 |
| Thick hair |
0.5% |
1/199 |
| Hypertrichosis |
0.5% |
1/199 |
| Aplasia/Hypoplasia of the nails |
0.5% |
1/199 |
| Valgus foot deformity |
0.5% |
1/199 |
| Broad foot |
0.5% |
1/199 |
| Deep plantar creases |
0.5% |
1/199 |
| Broad distal phalanges of all fingers |
0.5% |
1/199 |
| Broad distal phalanx of finger |
1.0% |
2/199 |
| Shortening of all phalanges of fingers |
0.5% |
1/199 |
| Shortening of all phalanges of the toes |
0.5% |
1/199 |
| Clinodactyly of the 5th finger |
2.0% |
4/199 |
| Proximal placement of thumb |
0.5% |
1/199 |
| Abnormal joint morphology |
0.5% |
1/199 |
| Short stature |
6.5% |
13/199 |
| Abnormal metacarpal morphology |
0.5% |
1/199 |
| Toe walking |
0.5% |
1/199 |
| Short distal phalanx of the 5th finger |
1.5% |
3/199 |
| Microcephaly |
2.5% |
5/199 |
| Brachycephaly |
3.5% |
7/199 |
| Broad hallux |
1.5% |
3/199 |
| Short finger |
1.5% |
3/199 |
| Congenital hip dislocation |
0.5% |
1/199 |
| Plagiocephaly |
3.0% |
6/199 |
| Genu valgum |
1.0% |
2/199 |
| Rocker bottom foot |
0.5% |
1/199 |
| Pectus excavatum |
2.5% |
5/199 |
| Short toe |
1.0% |
2/199 |
| Flat occiput |
0.5% |
1/199 |
| Abnormality of the scapula |
0.5% |
1/199 |
| Limited elbow extension |
0.5% |
1/199 |
| Short neck |
1.0% |
2/199 |
| Single transverse palmar crease |
2.0% |
4/199 |
| Macrocephaly |
0.5% |
1/199 |
| Metatarsus adductus |
0.5% |
1/199 |
| Abnormality of the distal phalanx of finger |
1.0% |
2/199 |
| Frontal bossing |
1.5% |
3/199 |
| Dolichocephaly |
1.0% |
2/199 |
| Joint laxity |
2.0% |
4/199 |
| Long toe |
0.5% |
1/199 |
| Abnormality of the calvaria |
0.5% |
1/199 |
| Hallux valgus |
1.0% |
2/199 |
| Abnormality of the occipital bone |
0.5% |
1/199 |
| Rhizomelic leg shortening |
0.5% |
1/199 |
| Rhizomelic arm shortening |
0.5% |
1/199 |
| Delayed eruption of primary teeth |
1.0% |
2/199 |
| Central hypotonia |
1.0% |
2/199 |
| Abnormal cervical curvature |
0.5% |
1/199 |
| Broad thumb |
1.5% |
3/199 |
| Kyphosis |
0.5% |
1/199 |
| Widely spaced teeth |
1.0% |
2/199 |
| Delayed eruption of permanent teeth |
1.5% |
3/199 |
| Hypodontia |
0.5% |
1/199 |
| Oligodontia |
0.5% |
1/199 |
| Gingival overgrowth |
0.5% |
1/199 |
| Carious teeth |
0.5% |
1/199 |
| Abnormality of the hip bone |
0.5% |
1/199 |
| Toe syndactyly |
0.5% |
1/199 |
| Thoracic scoliosis |
0.5% |
1/199 |
| Coronal craniosynostosis |
0.5% |
1/199 |
| Lambdoidal craniosynostosis |
0.5% |
1/199 |
| Bilateral elbow dislocations |
0.5% |
1/199 |
| Inguinal hernia |
0.5% |
1/199 |
| Wide intermamillary distance |
0.5% |
1/199 |
| Micrognathia |
0.5% |
1/199 |
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger |
0.5% |
1/199 |
| Short middle phalanx of the 5th finger |
1.0% |
2/199 |
| Mild short stature |
0.5% |
1/199 |
| Broad distal hallux |
0.5% |
1/199 |
| Dysharmonic delayed bone age |
0.5% |
1/199 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
95.6% |
197/206 |
| Low posterior hairline |
10.7% |
22/206 |
| Sparse scalp hair |
39.8% |
82/206 |
| Fine hair |
1.9% |
4/206 |
| Hypertrichosis |
60.7% |
125/206 |
| Prominent fingertip pads |
13.1% |
27/206 |
| Hemangioma |
1.0% |
2/206 |
| Low anterior hairline |
29.1% |
60/206 |
| Wide intermamillary distance |
4.9% |
10/206 |
| Generalized hypertrichosis |
5.8% |
12/206 |
| Small nail |
7.3% |
15/206 |
| Abnormal position of hair whorl |
0.5% |
1/206 |
| Eczema |
10.7% |
22/206 |
| Thick hair |
17.5% |
36/206 |
| Hypoplastic fifth fingernail |
23.8% |
49/206 |
| Hypoplastic toenails |
5.8% |
12/206 |
| Hypoplastic fifth toenail |
6.8% |
14/206 |
| Atopic dermatitis |
4.9% |
10/206 |
| Abnormality of the distal phalanx of the 5th finger |
0.5% |
1/206 |
| Short distal phalanx of finger |
0.5% |
1/206 |
| Hypoplastic fingernail |
4.4% |
9/206 |
| Urticaria |
0.5% |
1/206 |
| Bilateral single transverse palmar creases |
0.5% |
1/206 |
| Deep palmar crease |
0.5% |
1/206 |
| Striae distensae |
0.5% |
1/206 |
| Hyperextensible skin |
0.5% |
1/206 |
| Cutis marmorata |
1.5% |
3/206 |
| Sparse hair |
1.0% |
2/206 |
| Excessive wrinkled skin |
1.9% |
4/206 |
| Thin fingernail |
1.0% |
2/206 |
| Thin toenail |
0.5% |
1/206 |
| Thin nail |
1.0% |
2/206 |
| Numerous nevi |
1.0% |
2/206 |
| Cafe-au-lait spot |
1.0% |
2/206 |
| Single transverse palmar crease |
2.4% |
5/206 |
| Nevus |
1.5% |
3/206 |
| Hirsutism |
0.5% |
1/206 |
| Abnormality of the skin |
0.5% |
1/206 |
| Aplasia/Hypoplasia of the nails |
1.9% |
4/206 |
| Hyperpigmentation of the skin |
1.0% |
2/206 |
| Depigmentation/hyperpigmentation of skin |
0.5% |
1/206 |
| Thick eyebrow |
0.5% |
1/206 |
| Alopecia |
0.5% |
1/206 |
| Thoracic hypertrichosis |
1.0% |
2/206 |
| Abnormality of the scalp hair |
1.5% |
3/206 |
| Frontal hirsutism |
0.5% |
1/206 |
| Webbed neck |
0.5% |
1/206 |
| Thickened skin |
1.0% |
2/206 |
| Abnormally lax or hyperextensible skin |
1.0% |
2/206 |
| Neoplasm of the skin |
0.5% |
1/206 |
| Hyperkeratosis |
1.5% |
3/206 |
| Irregular hyperpigmentation |
0.5% |
1/206 |
| Spotty hyperpigmentation |
0.5% |
1/206 |
| Sacral dimple |
1.0% |
2/206 |
| Facial hirsutism |
0.5% |
1/206 |
| Melanocytic nevus |
1.0% |
2/206 |
| Localized hirsutism |
0.5% |
1/206 |
| Pallor |
0.5% |
1/206 |
| Skin tags |
0.5% |
1/206 |
| Hypopigmentation of the skin |
1.0% |
2/206 |
| Clinodactyly of the 5th finger |
0.5% |
1/206 |
| Localized skin lesion |
0.5% |
1/206 |
| Premature skin wrinkling |
0.5% |
1/206 |
| Absent fifth toenail |
0.5% |
1/206 |
| Absent fifth fingernail |
0.5% |
1/206 |
| Multiple cafe-au-lait spots |
0.5% |
1/206 |
| Curly hair |
0.5% |
1/206 |
| Increased body weight |
0.5% |
1/206 |
| Jaundice |
0.5% |
1/206 |
| Acanthosis nigricans |
0.5% |
1/206 |
| Red hair |
0.5% |
1/206 |
| Congenital, generalized hypertrichosis |
0.5% |
1/206 |
| Elbow hypertrichosis |
0.5% |
1/206 |
| Facial hypertrichosis |
0.5% |
1/206 |
| Polyhydramnios |
0.5% |
1/206 |
| Abnormality of hair growth rate |
0.5% |
1/206 |
| Slow-growing scalp hair |
0.5% |
1/206 |
| Slow-growing nails |
0.5% |
1/206 |
| Clinodactyly |
0.5% |
1/206 |
| Short 5th finger |
0.5% |
1/206 |
| Sacral hypertrichosis |
0.5% |
1/206 |
| Congenital giant melanocytic nevus |
0.5% |
1/206 |
| Vitiligo |
0.5% |
1/206 |
| Abnormality of the hair |
0.5% |
1/206 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
20.8% |
31/149 |
| Type II diabetes mellitus |
1.3% |
2/149 |
| Growth hormone deficiency |
6.0% |
9/149 |
| Hypothyroidism |
8.7% |
13/149 |
| Congenital hypothyroidism |
0.7% |
1/149 |
| Diabetes mellitus |
1.3% |
2/149 |
| Puberty and gonadal disorders |
0.7% |
1/149 |
| Gynecomastia |
0.7% |
1/149 |
| Type I diabetes mellitus |
0.7% |
1/149 |
| Compensated hypothyroidism |
1.3% |
2/149 |
| Increased serum free triiodothyronine (fT3) |
0.7% |
1/149 |
| Abnormality of thyroid physiology |
0.7% |
1/149 |
| Central hypothyroidism |
0.7% |
1/149 |
| Decreased circulating cortisol level |
0.7% |
1/149 |
| Increased circulating androgen level |
0.7% |
1/149 |
| Abnormality of the metabolic system |
7.3% |
11/151 |
| Diabetes mellitus |
0.7% |
1/151 |
| Hypercalciuria |
0.7% |
1/151 |
| Hyperglycemia |
0.7% |
1/151 |
| Hypomagnesemia |
0.7% |
1/151 |
| Hypocalcemia |
0.7% |
1/151 |
| Neonatal hypoglycemia |
0.7% |
1/151 |
| Type I diabetes mellitus |
0.7% |
1/151 |
| Hypercholesterolemia |
1.3% |
2/151 |
| Anemia |
0.7% |
1/151 |
| Vitamin B12 deficiency |
0.7% |
1/151 |
| Hyperinsulinemia |
0.7% |
1/151 |
| Abnormality of metabolism/homeostasis |
0.7% |
1/151 |
| Hypercalcemia |
0.7% |
1/151 |
| Abnormality of the immune system |
37.5% |
66/176 |
| Recurrent otitis media |
8.5% |
15/176 |
| Recurrent upper respiratory tract infections |
8.5% |
15/176 |
| Recurrent infections |
13.6% |
24/176 |
| Recurrent urinary tract infections |
1.7% |
3/176 |
| Recurrent lower respiratory tract infections |
1.7% |
3/176 |
| Conjunctivitis |
0.6% |
1/176 |
| Recurrent upper and lower respiratory tract infections |
0.6% |
1/176 |
| Bronchiolitis |
0.6% |
1/176 |
| Allergy |
1.1% |
2/176 |
| Decreased antibody level in blood |
0.6% |
1/176 |
| Eosinophilia |
0.6% |
1/176 |
| Recurrent respiratory infections |
1.7% |
3/176 |
| Otitis media |
0.6% |
1/176 |
| Recurrent bronchitis |
0.6% |
1/176 |
| Eczema |
1.7% |
3/176 |
| Respiratory infections in early life |
1.7% |
3/176 |
| Small vessel vasculitis |
0.6% |
1/176 |
| Recurrent bronchopulmonary infections |
0.6% |
1/176 |
| Lymphopenia |
0.6% |
1/176 |
| Panhypogammaglobulinemia |
0.6% |
1/176 |
| Asthma |
0.6% |
1/176 |
| Recurrent infections of the middle ear |
0.6% |
1/176 |
| Neoplasia |
|
|
| Neoplasia |
0.5% |
1/206 |
| Sertoli cell neoplasm |
0.5% |
1/206 |
| Leydig cell neoplasia |
0.5% |
1/206 |
| Brain neoplasm |
0.5% |
1/206 |