Gender |
|
|
Male |
50.0% |
105/210 |
Female |
50.0% |
105/210 |
Neurology |
|
|
Neurological abnormalities |
86.2% |
163/189 |
Seizures |
15.3% |
29/189 |
Absence seizures |
1.6% |
3/189 |
Febrile seizures |
3.7% |
7/189 |
Generalized hypotonia |
19.0% |
36/189 |
Impaired pain sensation |
6.3% |
12/189 |
Generalized tonic-clonic seizures |
6.3% |
12/189 |
EEG abnormality |
4.2% |
8/189 |
Neonatal hypotonia |
9.0% |
17/189 |
Atonic seizures |
0.5% |
1/189 |
Muscular hypotonia |
32.8% |
62/189 |
Abnormality of pain sensation |
2.1% |
4/189 |
Poor fine motor coordination |
1.1% |
2/189 |
Focal seizures with impairment of consciousness or awareness |
2.6% |
5/189 |
Focal seizures |
1.1% |
2/189 |
Headache |
0.5% |
1/189 |
Generalized tonic seizures |
1.1% |
2/189 |
Generalized myoclonic seizures |
1.1% |
2/189 |
Unsteady gait |
0.5% |
1/189 |
Developmental regression |
0.5% |
1/189 |
Gait imbalance |
0.5% |
1/189 |
Cerebral palsy |
0.5% |
1/189 |
Broad-based gait |
1.1% |
2/189 |
Ataxia |
0.5% |
1/189 |
Infantile axial hypotonia |
0.5% |
1/189 |
Hyperreflexia |
1.6% |
3/189 |
Motor delay |
2.1% |
4/189 |
Muscular hypotonia of the trunk |
0.5% |
1/189 |
Global developmental delay |
0.5% |
1/189 |
Lower limb hyperreflexia |
1.1% |
2/189 |
Visual agnosia |
3.7% |
7/189 |
Impaired visuospatial constructive cognition |
3.7% |
7/189 |
Astereognosia |
3.7% |
7/189 |
Lower limb hypertonia |
1.1% |
2/189 |
Upper limb hypertonia |
1.1% |
2/189 |
Infantile muscular hypotonia |
0.5% |
1/189 |
Torticollis |
0.5% |
1/189 |
Oromandibular dystonia |
0.5% |
1/189 |
Exercise intolerance |
0.5% |
1/189 |
Poor gross motor coordination |
0.5% |
1/189 |
Dysarthria |
0.5% |
1/189 |
Gait disturbance |
0.5% |
1/189 |
Postural instability |
0.5% |
1/189 |
Dysmetria |
0.5% |
1/189 |
Dysdiadochokinesis |
0.5% |
1/189 |
Focal seizures without impairment of consciousness or awareness |
0.5% |
1/189 |
Gait ataxia |
1.6% |
3/189 |
Central hypotonia |
3.7% |
7/189 |
Posterior fossa cyst |
0.5% |
1/189 |
Abnormality of the subarachnoid space |
0.5% |
1/189 |
Colpocephaly |
1.1% |
2/189 |
Dysplastic corpus callosum |
0.5% |
1/189 |
Widened subarachnoid space |
0.5% |
1/189 |
Partial agenesis of the corpus callosum |
0.5% |
1/189 |
Delayed myelination |
1.1% |
2/189 |
Abnormality of the corpus callosum |
0.5% |
1/189 |
Agenesis of corpus callosum |
0.5% |
1/189 |
Generalized seizures |
0.5% |
1/189 |
Behavioral problems |
66.1% |
111/168 |
Short attention span |
9.5% |
16/168 |
Anxiety |
3.0% |
5/168 |
Hyperactivity |
25.0% |
42/168 |
Attention deficit hyperactivity disorder |
13.7% |
23/168 |
Autistic behavior |
31.0% |
52/168 |
Hyperkinesis |
6.0% |
10/168 |
Obsessive-compulsive behavior |
7.1% |
12/168 |
Emotional lability |
1.2% |
2/168 |
Abnormal emotion/affect behavior |
1.2% |
2/168 |
Impulsivity |
3.6% |
6/168 |
Violent behavior |
0.6% |
1/168 |
Oral aversion |
0.6% |
1/168 |
Abnormal fear/anxiety-related behavior |
8.3% |
14/168 |
Autism |
7.1% |
12/168 |
Obsessive-compulsive trait |
2.4% |
4/168 |
Clumsiness |
0.6% |
1/168 |
Aggressive behavior |
7.7% |
13/168 |
Impaired social interactions |
7.7% |
13/168 |
Behavioral abnormality |
3.0% |
5/168 |
Inflexible adherence to routines or rituals |
1.2% |
2/168 |
Abnormal social behavior |
3.0% |
5/168 |
Sleep disturbance |
0.6% |
1/168 |
Repetitive compulsive behavior |
0.6% |
1/168 |
Stereotypic behavior |
6.5% |
11/168 |
Poor eye contact |
0.6% |
1/168 |
Impaired ability to form peer relationships |
0.6% |
1/168 |
Shyness |
0.6% |
1/168 |
Phonophobia |
0.6% |
1/168 |
Restrictive behavior |
0.6% |
1/168 |
Impaired social reciprocity |
3.0% |
5/168 |
Overfriendliness |
0.6% |
1/168 |
Abnormal aggressive, impulsive or violent behavior |
1.2% |
2/168 |
Hyperacusis |
0.6% |
1/168 |
Absent speech |
0.6% |
1/168 |
Self-injurious behavior |
0.6% |
1/168 |
Brain abnormality |
73.2% |
109/149 |
Enlarged cisterna magna |
6.7% |
10/149 |
Brain atrophy |
0.7% |
1/149 |
Abnormality of the periventricular white matter |
0.7% |
1/149 |
Abnormality of the corpus callosum |
3.4% |
5/149 |
Agenesis of corpus callosum |
22.1% |
33/149 |
Ventriculomegaly |
2.0% |
3/149 |
Dysplastic corpus callosum |
3.4% |
5/149 |
Hypoplasia of the corpus callosum |
8.7% |
13/149 |
Delayed myelination |
6.0% |
9/149 |
Arachnoid cyst |
2.0% |
3/149 |
Partial agenesis of the corpus callosum |
7.4% |
11/149 |
Pachygyria |
0.7% |
1/149 |
Colpocephaly |
4.7% |
7/149 |
Abnormality of cerebral veins |
0.7% |
1/149 |
Aplasia/Hypoplasia of the corpus callosum |
6.0% |
9/149 |
Intracranial cystic lesion |
2.0% |
3/149 |
Perivascular spaces |
1.3% |
2/149 |
Prominent supraorbital ridges |
0.7% |
1/149 |
Hypoplastic olfactory lobes |
0.7% |
1/149 |
Choroid plexus cyst |
1.3% |
2/149 |
Abnormality of the cerebral cortex |
0.7% |
1/149 |
Abnormality of the cerebellum |
0.7% |
1/149 |
Abnormality of the cerebral white matter |
0.7% |
1/149 |
Abnormality of corpus cavernosum |
0.7% |
1/149 |
Heterotopia |
1.3% |
2/149 |
Polymicrogyria |
0.7% |
1/149 |
Arnold-Chiari type I malformation |
1.3% |
2/149 |
Lambdoidal craniosynostosis |
0.7% |
1/149 |
Multiple suture craniosynostosis |
0.7% |
1/149 |
Sagittal craniosynostosis |
0.7% |
1/149 |
Cavum septum pellucidum |
0.7% |
1/149 |
Neonatal hypotonia |
0.7% |
1/149 |
Asymmetric ventricles |
0.7% |
1/149 |
Cerebellar cyst |
3.4% |
5/149 |
Cerebellar agenesis |
0.7% |
1/149 |
Microcephaly |
0.7% |
1/149 |
Hydrocephalus |
0.7% |
1/149 |
Relative macrocephaly |
0.7% |
1/149 |
Thick corpus callosum |
3.4% |
5/149 |
Short corpus callosum |
4.0% |
6/149 |
Cerebellar dysplasia |
0.7% |
1/149 |
Attention deficit hyperactivity disorder |
1.3% |
2/149 |
Retrocerebellar cyst |
3.4% |
5/149 |
Subarachnoid hemorrhage |
0.7% |
1/149 |
Abnormality of lateral ventricle |
0.7% |
1/149 |
Abnormal length of corpus callosum |
0.7% |
1/149 |
Enlarged fetal cisterna magna |
0.7% |
1/149 |
Hypoplasia of the brainstem |
0.7% |
1/149 |
Abnormality of midbrain morphology |
0.7% |
1/149 |
Seizures |
0.7% |
1/149 |
Aplasia/Hypoplasia of the cerebrum |
1.3% |
2/149 |
Cerebellar hypoplasia |
1.3% |
2/149 |
Dandy-Walker malformation |
0.7% |
1/149 |
Absent septum pellucidum |
0.7% |
1/149 |
Abnormality of neuronal migration |
0.7% |
1/149 |
Talipes calcaneovarus |
0.7% |
1/149 |
Neoplasm of the central nervous system |
0.7% |
1/149 |
Cerebral hypoplasia |
0.7% |
1/149 |
Bilateral intracranial calcifications |
0.7% |
1/149 |
Abnormality of the pons |
0.7% |
1/149 |
Hypoplasia of the pons |
0.7% |
1/149 |
Abnormality of forebrain morphology |
0.7% |
1/149 |
Aplasia/Hypoplasia involving the central nervous system |
0.7% |
1/149 |
Hypodysplasia of the corpus callosum |
0.7% |
1/149 |
Facial abnormalities |
|
|
Abnormality of the ear |
61.2% |
115/188 |
Macrotia |
4.8% |
9/188 |
Abnormality of the ear |
5.3% |
10/188 |
Posteriorly rotated ears |
4.8% |
9/188 |
Uplifted earlobe |
4.3% |
8/188 |
Abnormality of earlobe |
1.1% |
2/188 |
Overfolded helix |
1.6% |
3/188 |
Forward facing earlobe |
1.6% |
3/188 |
Cupped ear |
1.1% |
2/188 |
Protruding ear |
4.8% |
9/188 |
Low-set ears |
12.2% |
23/188 |
Underdeveloped superior crus of antihelix |
1.6% |
3/188 |
Abnormality of the pinna |
9.6% |
18/188 |
Long eyelashes |
0.5% |
1/188 |
Thick eyebrow |
0.5% |
1/188 |
Abnormality of the outer ear |
4.8% |
9/188 |
Low-set, posteriorly rotated ears |
8.0% |
15/188 |
External ear malformation |
3.2% |
6/188 |
Large earlobe |
0.5% |
1/188 |
Small earlobe |
1.1% |
2/188 |
Thickened helices |
1.1% |
2/188 |
Asymmetry of the ears |
0.5% |
1/188 |
Abnormal location of ears |
1.1% |
2/188 |
Abnormality of periauricular region |
0.5% |
1/188 |
Satyr ear |
0.5% |
1/188 |
Preauricular pit |
1.6% |
3/188 |
Cholesteatoma |
1.1% |
2/188 |
Mild hearing impairment |
0.5% |
1/188 |
Recurrent otitis media |
0.5% |
1/188 |
Recurrent infections of the middle ear |
0.5% |
1/188 |
Prominent ear helix |
0.5% |
1/188 |
Microtia |
0.5% |
1/188 |
Long ear |
0.5% |
1/188 |
Abnormality of the eye |
89.1% |
172/193 |
Long eyelashes |
49.7% |
96/193 |
Bilateral ptosis |
4.1% |
8/193 |
Periorbital wrinkles |
8.3% |
16/193 |
Highly arched eyebrow |
2.1% |
4/193 |
Muscular hypotonia of the trunk |
0.5% |
1/193 |
Thick eyebrow |
60.1% |
116/193 |
Downslanted palpebral fissures |
14.5% |
28/193 |
Epicanthus |
5.7% |
11/193 |
Upslanted palpebral fissure |
6.7% |
13/193 |
Long palpebral fissure |
3.6% |
7/193 |
Ptosis |
8.3% |
16/193 |
Synophrys |
8.3% |
16/193 |
Short eyelashes |
0.5% |
1/193 |
Facial wrinkling |
2.6% |
5/193 |
Small palpebral fissure |
3.1% |
6/193 |
Abnormality of the lacrimal duct |
2.6% |
5/193 |
Unilateral ptosis |
3.1% |
6/193 |
Lower eyelid edema |
0.5% |
1/193 |
Short palpebral fissure |
2.1% |
4/193 |
Long eyebrows |
0.5% |
1/193 |
Excessive wrinkled skin |
0.5% |
1/193 |
Prominent epicanthal folds |
0.5% |
1/193 |
Strabismus |
4.1% |
8/193 |
Broad forehead |
0.5% |
1/193 |
High forehead |
0.5% |
1/193 |
Hypertelorism |
3.1% |
6/193 |
Prominent eyelashes |
3.6% |
7/193 |
Blue sclerae |
0.5% |
1/193 |
Exotropia |
0.5% |
1/193 |
Congenital ptosis |
0.5% |
1/193 |
Lacrimal duct stenosis |
0.5% |
1/193 |
Esotropia |
1.0% |
2/193 |
Abnormality of the eyelashes |
0.5% |
1/193 |
Horizontal nystagmus |
0.5% |
1/193 |
Nasolacrimal duct obstruction |
1.0% |
2/193 |
Proptosis |
1.6% |
3/193 |
Deeply set eye |
0.5% |
1/193 |
Lisch nodules |
0.5% |
1/193 |
Abnormality of the periorbital region |
1.0% |
2/193 |
Redundant skin |
0.5% |
1/193 |
Periorbital fullness |
0.5% |
1/193 |
Abnormality of the nose |
78.7% |
148/188 |
Wide nasal bridge |
23.9% |
45/188 |
Depressed nasal bridge |
13.8% |
26/188 |
Anteverted nares |
20.2% |
38/188 |
Short nose |
12.2% |
23/188 |
Long nose |
9.6% |
18/188 |
Thick nasal alae |
30.3% |
57/188 |
Wide nasal base |
20.7% |
39/188 |
Thick lower lip vermilion |
1.1% |
2/188 |
Broad nasal tip |
43.6% |
82/188 |
Abnormality of the nasal alae |
0.5% |
1/188 |
Abnormality of the columella |
0.5% |
1/188 |
Narrow nasal tip |
1.6% |
3/188 |
Underdeveloped nasal alae |
0.5% |
1/188 |
Prominent nasal tip |
2.1% |
4/188 |
Bulbous nose |
4.3% |
8/188 |
Abnormality of the nasal bridge |
0.5% |
1/188 |
Long philtrum |
1.1% |
2/188 |
Nasal polyposis |
0.5% |
1/188 |
Nasal obstruction |
0.5% |
1/188 |
Thin upper lip vermilion |
0.5% |
1/188 |
Thin lower lip vermilion |
0.5% |
1/188 |
Thick upper lip vermilion |
0.5% |
1/188 |
Hypodontia |
0.5% |
1/188 |
Narrow nasal base |
0.5% |
1/188 |
Abnormality of the nasal tip |
0.5% |
1/188 |
Narrow nasal bridge |
0.5% |
1/188 |
Prominent nasal bridge |
1.1% |
2/188 |
Prominent nose |
0.5% |
1/188 |
Thick vermilion border |
0.5% |
1/188 |
Papule |
0.5% |
1/188 |
Retrognathia |
0.5% |
1/188 |
Flat nasal alae |
0.5% |
1/188 |
Broad philtrum |
0.5% |
1/188 |
Abnormal nasal morphology |
0.5% |
1/188 |
Wide nose |
1.1% |
2/188 |
Low hanging columella |
0.5% |
1/188 |
Abnormality of the mouth |
93.7% |
179/191 |
Long philtrum |
27.7% |
53/191 |
Wide mouth |
56.0% |
107/191 |
Thick upper lip vermilion |
19.9% |
38/191 |
Thick lower lip vermilion |
53.4% |
102/191 |
Abnormality of dental enamel |
1.0% |
2/191 |
Prominent palatine ridges |
0.5% |
1/191 |
Delayed eruption of primary teeth |
13.1% |
25/191 |
Delayed eruption of permanent teeth |
7.3% |
14/191 |
Widely spaced teeth |
14.7% |
28/191 |
Thin upper lip vermilion |
30.9% |
59/191 |
Everted lower lip vermilion |
21.5% |
41/191 |
Hypodontia |
4.2% |
8/191 |
High palate |
11.0% |
21/191 |
Broad philtrum |
19.4% |
37/191 |
Short philtrum |
14.1% |
27/191 |
Bifid uvula |
2.1% |
4/191 |
Cleft palate |
5.2% |
10/191 |
Mandibular prognathia |
1.0% |
2/191 |
Gingival overgrowth |
5.8% |
11/191 |
Everted upper lip vermilion |
0.5% |
1/191 |
Ankyloglossia |
0.5% |
1/191 |
Advanced eruption of teeth |
0.5% |
1/191 |
Open mouth |
2.1% |
4/191 |
Abnormality of mouth size |
0.5% |
1/191 |
Coarse facial features |
2.6% |
5/191 |
Abnormality of the gingiva |
0.5% |
1/191 |
Abnormality of the philtrum |
1.6% |
3/191 |
Microdontia |
2.1% |
4/191 |
Misalignment of teeth |
0.5% |
1/191 |
Widely spaced primary teeth |
0.5% |
1/191 |
Excessive salivation |
0.5% |
1/191 |
Overbite |
0.5% |
1/191 |
Macroglossia |
2.6% |
5/191 |
Thin lower lip vermilion |
0.5% |
1/191 |
Submucous cleft soft palate |
0.5% |
1/191 |
Short chin |
0.5% |
1/191 |
Micrognathia |
4.2% |
8/191 |
Downturned corners of mouth |
0.5% |
1/191 |
Widely-spaced incisors |
0.5% |
1/191 |
Thick vermilion border |
0.5% |
1/191 |
Protruding tongue |
0.5% |
1/191 |
Smooth philtrum |
0.5% |
1/191 |
Carious teeth |
1.0% |
2/191 |
Submucous cleft lip |
0.5% |
1/191 |
Conical tooth |
0.5% |
1/191 |
Retrognathia |
0.5% |
1/191 |
Small, conical teeth |
0.5% |
1/191 |
Dental malocclusion |
0.5% |
1/191 |
Absent speech |
0.5% |
1/191 |
High, narrow palate |
0.5% |
1/191 |
Abnormality of the tongue |
0.5% |
1/191 |
Growth delay |
0.5% |
1/191 |
Pes planus |
0.5% |
1/191 |
Visual and hearing impairments |
|
|
Abnormal hearing |
23.5% |
43/183 |
Bilateral conductive hearing impairment |
1.6% |
3/183 |
Hearing impairment |
13.7% |
25/183 |
Otitis media |
0.5% |
1/183 |
Conductive hearing impairment |
3.8% |
7/183 |
Hyperacusis |
0.5% |
1/183 |
Abnormality of the middle ear |
0.5% |
1/183 |
Sensorineural hearing impairment |
0.5% |
1/183 |
Severe hearing impairment |
0.5% |
1/183 |
Mild hearing impairment |
1.1% |
2/183 |
Abnormality of the tympanic membrane |
0.5% |
1/183 |
Mixed hearing impairment |
0.5% |
1/183 |
Bilateral sensorineural hearing impairment |
1.6% |
3/183 |
Moderate sensorineural hearing impairment |
1.6% |
3/183 |
Severe sensorineural hearing impairment |
1.1% |
2/183 |
Moderate conductive hearing impairment |
0.5% |
1/183 |
Mild conductive hearing impairment |
0.5% |
1/183 |
Unilateral |
0.5% |
1/183 |
Recurrent otitis media |
0.5% |
1/183 |
Glue ear |
0.5% |
1/183 |
Hearing abnormality |
0.5% |
1/183 |
Abnormal vision |
55.6% |
95/171 |
Nystagmus |
4.1% |
7/171 |
Severe Myopia |
6.4% |
11/171 |
Myopia |
21.1% |
36/171 |
Visual impairment |
7.6% |
13/171 |
Astigmatism |
7.0% |
12/171 |
Abnormality of refraction |
3.5% |
6/171 |
Hypermetropia |
5.8% |
10/171 |
Esotropia |
0.6% |
1/171 |
Strabismus |
11.7% |
20/171 |
Unilateral strabismus |
1.8% |
3/171 |
Optic nerve hypoplasia |
1.2% |
2/171 |
Coloboma |
0.6% |
1/171 |
Corneal ulceration |
0.6% |
1/171 |
Blurred vision |
0.6% |
1/171 |
Cortical visual impairment |
0.6% |
1/171 |
Exotropia |
2.3% |
4/171 |
Amblyopia |
1.2% |
2/171 |
Optic nerve coloboma |
0.6% |
1/171 |
Increased intraocular pressure |
0.6% |
1/171 |
Cataract |
0.6% |
1/171 |
Abnormality of the optic disc |
0.6% |
1/171 |
Peripapillary chorioretinal atrophy |
0.6% |
1/171 |
Keratoconus |
0.6% |
1/171 |
Congenital cataract |
0.6% |
1/171 |
Heart |
|
|
Abnormality of the heart |
23.4% |
39/167 |
Atria septal defect |
10.8% |
18/167 |
Mitral regurgitation |
1.8% |
3/167 |
Atrioventricular block |
0.6% |
1/167 |
Patent foramen ovale |
2.4% |
4/167 |
Ventricular septal defect |
4.2% |
7/167 |
Abnormality of the tricuspid valve |
0.6% |
1/167 |
Atrioventricular canal defect |
0.6% |
1/167 |
Coarctation of aorta |
1.2% |
2/167 |
Bicuspid aortic valve |
1.2% |
2/167 |
Abnormality of the aortic valve |
1.2% |
2/167 |
Abnormality of the atrial septum |
1.2% |
2/167 |
Cyanosis |
0.6% |
1/167 |
Bradycardia |
0.6% |
1/167 |
Heart murmur |
0.6% |
1/167 |
Non-restrictive ventricular septal defect |
0.6% |
1/167 |
Patent ductus arteriosus |
0.6% |
1/167 |
Secundum atrial septal defect |
0.6% |
1/167 |
Left-to-right shunt |
0.6% |
1/167 |
Abnormal heart morphology |
1.2% |
2/167 |
Abnormality of the cardiac septa |
0.6% |
1/167 |
Abnormality of the left ventricle |
0.6% |
1/167 |
Abnormality of the vasculature |
0.6% |
1/167 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
58.8% |
97/165 |
Constipation |
21.2% |
35/165 |
Diarrhea |
3.0% |
5/165 |
Gastroesophageal reflux |
13.9% |
23/165 |
Feeding difficulties |
10.9% |
18/165 |
Feeding difficulties in infancy |
18.2% |
30/165 |
Lactose intolerance |
1.2% |
2/165 |
Aspiration |
0.6% |
1/165 |
Gastrostomy tube feeding in infancy |
1.8% |
3/165 |
Inguinal hernia |
2.4% |
4/165 |
Hiatus hernia |
0.6% |
1/165 |
Esophagitis |
0.6% |
1/165 |
Nasogastric tube feeding in infancy |
1.8% |
3/165 |
Pyloric stenosis |
1.2% |
2/165 |
Laryngomalacia |
1.2% |
2/165 |
Umbilical hernia |
3.6% |
6/165 |
Episodic vomiting |
0.6% |
1/165 |
Abnormality of the intestine |
1.2% |
2/165 |
Hernia of the abdominal wall |
1.2% |
2/165 |
Anal fistula |
0.6% |
1/165 |
Poor suck |
1.8% |
3/165 |
Failure to thrive in infancy |
1.2% |
2/165 |
Failure to thrive |
1.2% |
2/165 |
Dehydration |
0.6% |
1/165 |
Cow milk allergy |
0.6% |
1/165 |
Malnutrition |
0.6% |
1/165 |
Intestinal malrotation |
0.6% |
1/165 |
Vomiting |
0.6% |
1/165 |
Hyperinsulinemia |
0.6% |
1/165 |
Intestinal lymphangiectasia |
0.6% |
1/165 |
Intestinal obstruction |
0.6% |
1/165 |
Abnormality of the gastrointestinal tract |
0.6% |
1/165 |
Abnormal vascular physiology |
0.6% |
1/165 |
Urogenital |
|
|
Abnormality of the urogenital system |
38.7% |
60/155 |
Abnormality of the urinary system |
1.3% |
2/155 |
Bilateral cryptorchidism |
11.6% |
18/155 |
Inguinal hernia |
1.3% |
2/155 |
Enuresis nocturna |
0.6% |
1/155 |
Proteinuria |
0.6% |
1/155 |
Unilateral cryptorchidism |
7.1% |
11/155 |
Abnormality of the kidney |
0.6% |
1/155 |
Cryptorchidism |
8.4% |
13/155 |
Aplasia of the uterus |
0.6% |
1/155 |
Aplasia of the upper vagina |
0.6% |
1/155 |
Vesicoureteral reflux |
0.6% |
1/155 |
Nephrolithiasis |
2.6% |
4/155 |
Hydronephrosis |
1.9% |
3/155 |
Retractile testis |
1.9% |
3/155 |
Abnormality of the testis |
0.6% |
1/155 |
Abnormality of the penis |
1.3% |
2/155 |
Increased size of the clitoris |
1.3% |
2/155 |
Hydrocele testis |
0.6% |
1/155 |
Urinary retention |
0.6% |
1/155 |
Hypoplastic male external genitalia |
0.6% |
1/155 |
Webbed penis |
0.6% |
1/155 |
Scrotal hypoplasia |
0.6% |
1/155 |
Pyelonephritis |
0.6% |
1/155 |
Clitoral hypertrophy |
0.6% |
1/155 |
Hydroureter |
0.6% |
1/155 |
Nephrocalcinosis |
0.6% |
1/155 |
Stage 5 chronic kidney disease |
0.6% |
1/155 |
Abnormality of the urinary system physiology |
0.6% |
1/155 |
Skeleton |
|
|
Skeletal abnormalities |
86.1% |
161/187 |
Clinodactyly |
15.5% |
29/187 |
Hip dislocation |
0.5% |
1/187 |
Short 5th finger |
11.2% |
21/187 |
Short phalanx of finger |
9.1% |
17/187 |
Short distal phalanx of finger |
12.3% |
23/187 |
Delayed skeletal maturation |
10.7% |
20/187 |
Scoliosis |
21.9% |
41/187 |
Prominent interphalangeal joints |
13.9% |
26/187 |
Abnormality of the neck |
6.4% |
12/187 |
Abnormality of the sternum |
5.3% |
10/187 |
Adducted thumb |
0.5% |
1/187 |
Long hallux |
7.0% |
13/187 |
Arthritis |
2.1% |
4/187 |
Brachydactyly syndrome |
8.6% |
16/187 |
Abnormality of the distal phalanx of the 5th finger |
20.3% |
38/187 |
Triphalangeal thumb |
1.1% |
2/187 |
Sandal gap |
11.2% |
21/187 |
Cone-shaped epiphysis |
1.6% |
3/187 |
Abnormality of the phalanges of the 5th finger |
0.5% |
1/187 |
Aplasia/Hypoplasia of the phalanges of the 5th toe |
0.5% |
1/187 |
Symphalangism affecting the phalanges of the 5th toe |
0.5% |
1/187 |
Hyperlordosis |
1.1% |
2/187 |
Pes planus |
3.2% |
6/187 |
Aplasia/Hypoplasia of the phalanges of the hand |
1.1% |
2/187 |
Patellar dislocation |
1.6% |
3/187 |
Prominent fingertip pads |
3.2% |
6/187 |
Accelerated skeletal maturation |
1.1% |
2/187 |
Aplasia/Hypoplasia of fingers |
0.5% |
1/187 |
Joint hypermobility |
1.6% |
3/187 |
Aplasia/Hypoplasia of the distal phalanges of the hand |
0.5% |
1/187 |
Talipes valgus |
0.5% |
1/187 |
Aplasia/Hypoplasia of the distal phalanges of the toes |
0.5% |
1/187 |
Short metacarpal |
1.1% |
2/187 |
Short metatarsal |
1.1% |
2/187 |
Camptodactyly of finger |
0.5% |
1/187 |
Short hallux |
0.5% |
1/187 |
Spondylolysis |
0.5% |
1/187 |
Short sternum |
0.5% |
1/187 |
Abnormality of the thumb |
1.6% |
3/187 |
Abnormality of the vertebrae |
0.5% |
1/187 |
Aplasia/Hypoplasia of the 2nd finger |
0.5% |
1/187 |
Overlapping toe |
0.5% |
1/187 |
Sparse scalp hair |
0.5% |
1/187 |
Thick hair |
0.5% |
1/187 |
Hypertrichosis |
0.5% |
1/187 |
Aplasia/Hypoplasia of the nails |
0.5% |
1/187 |
Valgus foot deformity |
0.5% |
1/187 |
Broad foot |
0.5% |
1/187 |
Deep plantar creases |
0.5% |
1/187 |
Broad distal phalanges of all fingers |
0.5% |
1/187 |
Broad distal phalanx of finger |
1.1% |
2/187 |
Shortening of all phalanges of fingers |
0.5% |
1/187 |
Shortening of all phalanges of the toes |
0.5% |
1/187 |
Clinodactyly of the 5th finger |
1.6% |
3/187 |
Proximal placement of thumb |
0.5% |
1/187 |
Abnormal joint morphology |
0.5% |
1/187 |
Short stature |
5.3% |
10/187 |
Abnormal metacarpal morphology |
0.5% |
1/187 |
Toe walking |
0.5% |
1/187 |
Short distal phalanx of the 5th finger |
1.1% |
2/187 |
Microcephaly |
2.7% |
5/187 |
Brachycephaly |
3.2% |
6/187 |
Broad hallux |
1.6% |
3/187 |
Short finger |
1.6% |
3/187 |
Congenital hip dislocation |
0.5% |
1/187 |
Plagiocephaly |
2.7% |
5/187 |
Genu valgum |
1.1% |
2/187 |
Rocker bottom foot |
0.5% |
1/187 |
Pectus excavatum |
2.7% |
5/187 |
Short toe |
1.1% |
2/187 |
Flat occiput |
0.5% |
1/187 |
Abnormality of the scapula |
0.5% |
1/187 |
Limited elbow extension |
0.5% |
1/187 |
Short neck |
1.1% |
2/187 |
Single transverse palmar crease |
2.1% |
4/187 |
Macrocephaly |
0.5% |
1/187 |
Metatarsus adductus |
0.5% |
1/187 |
Abnormality of the distal phalanx of finger |
1.1% |
2/187 |
Frontal bossing |
1.6% |
3/187 |
Dolichocephaly |
1.1% |
2/187 |
Joint laxity |
2.1% |
4/187 |
Long toe |
0.5% |
1/187 |
Abnormality of the calvaria |
0.5% |
1/187 |
Hallux valgus |
1.1% |
2/187 |
Abnormality of the occipital bone |
0.5% |
1/187 |
Rhizomelic leg shortening |
0.5% |
1/187 |
Rhizomelic arm shortening |
0.5% |
1/187 |
Delayed eruption of primary teeth |
1.1% |
2/187 |
Central hypotonia |
1.1% |
2/187 |
Abnormal cervical curvature |
0.5% |
1/187 |
Broad thumb |
1.6% |
3/187 |
Kyphosis |
0.5% |
1/187 |
Widely spaced teeth |
1.1% |
2/187 |
Delayed eruption of permanent teeth |
1.1% |
2/187 |
Hypodontia |
0.5% |
1/187 |
Oligodontia |
0.5% |
1/187 |
Gingival overgrowth |
0.5% |
1/187 |
Carious teeth |
0.5% |
1/187 |
Thoracic scoliosis |
0.5% |
1/187 |
Coronal craniosynostosis |
0.5% |
1/187 |
Lambdoidal craniosynostosis |
0.5% |
1/187 |
Bilateral elbow dislocations |
0.5% |
1/187 |
Inguinal hernia |
0.5% |
1/187 |
Wide intermamillary distance |
0.5% |
1/187 |
Micrognathia |
0.5% |
1/187 |
Aplasia/Hypoplasia of the distal phalanx of the 5th finger |
0.5% |
1/187 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
95.3% |
182/191 |
Low posterior hairline |
11.5% |
22/191 |
Sparse scalp hair |
38.2% |
73/191 |
Fine hair |
2.1% |
4/191 |
Hypertrichosis |
60.7% |
116/191 |
Prominent fingertip pads |
13.6% |
26/191 |
Hemangioma |
1.0% |
2/191 |
Low anterior hairline |
29.8% |
57/191 |
Wide intermamillary distance |
4.7% |
9/191 |
Generalized hypertrichosis |
6.3% |
12/191 |
Small nail |
6.8% |
13/191 |
Abnormal position of hair whorl |
0.5% |
1/191 |
Eczema |
10.5% |
20/191 |
Thick hair |
18.8% |
36/191 |
Hypoplastic fifth fingernail |
24.1% |
46/191 |
Hypoplastic toenails |
6.3% |
12/191 |
Hypoplastic fifth toenail |
6.8% |
13/191 |
Atopic dermatitis |
5.2% |
10/191 |
Abnormality of the distal phalanx of the 5th finger |
0.5% |
1/191 |
Short distal phalanx of finger |
0.5% |
1/191 |
Hypoplastic fingernail |
4.7% |
9/191 |
Urticaria |
0.5% |
1/191 |
Bilateral single transverse palmar creases |
0.5% |
1/191 |
Deep palmar crease |
0.5% |
1/191 |
Striae distensae |
0.5% |
1/191 |
Hyperextensible skin |
0.5% |
1/191 |
Cutis marmorata |
1.6% |
3/191 |
Sparse hair |
1.0% |
2/191 |
Excessive wrinkled skin |
2.1% |
4/191 |
Thin fingernail |
1.0% |
2/191 |
Thin toenail |
0.5% |
1/191 |
Thin nail |
1.0% |
2/191 |
Numerous nevi |
1.0% |
2/191 |
Cafe-au-lait spot |
1.0% |
2/191 |
Single transverse palmar crease |
2.1% |
4/191 |
Nevus |
1.0% |
2/191 |
Hirsutism |
0.5% |
1/191 |
Abnormality of the skin |
0.5% |
1/191 |
Aplasia/Hypoplasia of the nails |
2.1% |
4/191 |
Hyperpigmentation of the skin |
0.5% |
1/191 |
Depigmentation/hyperpigmentation of skin |
0.5% |
1/191 |
Thick eyebrow |
0.5% |
1/191 |
Alopecia |
0.5% |
1/191 |
Thoracic hypertrichosis |
1.0% |
2/191 |
Abnormality of the scalp hair |
1.6% |
3/191 |
Frontal hirsutism |
0.5% |
1/191 |
Webbed neck |
0.5% |
1/191 |
Thickened skin |
1.0% |
2/191 |
Abnormally lax or hyperextensible skin |
1.0% |
2/191 |
Neoplasm of the skin |
0.5% |
1/191 |
Hyperkeratosis |
1.6% |
3/191 |
Irregular hyperpigmentation |
0.5% |
1/191 |
Spotty hyperpigmentation |
0.5% |
1/191 |
Sacral dimple |
1.0% |
2/191 |
Facial hirsutism |
0.5% |
1/191 |
Melanocytic nevus |
0.5% |
1/191 |
Localized hirsutism |
0.5% |
1/191 |
Pallor |
0.5% |
1/191 |
Skin tags |
0.5% |
1/191 |
Hypopigmentation of the skin |
1.0% |
2/191 |
Clinodactyly of the 5th finger |
0.5% |
1/191 |
Localized skin lesion |
0.5% |
1/191 |
Premature skin wrinkling |
0.5% |
1/191 |
Absent fifth toenail |
0.5% |
1/191 |
Absent fifth fingernail |
0.5% |
1/191 |
Multiple cafe-au-lait spots |
0.5% |
1/191 |
Curly hair |
0.5% |
1/191 |
Increased body weight |
0.5% |
1/191 |
Congenital, generalized hypertrichosis |
0.5% |
1/191 |
Elbow hypertrichosis |
0.5% |
1/191 |
Facial hypertrichosis |
0.5% |
1/191 |
Polyhydramnios |
0.5% |
1/191 |
Abnormality of hair growth rate |
0.5% |
1/191 |
Slow-growing scalp hair |
0.5% |
1/191 |
Slow-growing nails |
0.5% |
1/191 |
Clinodactyly |
0.5% |
1/191 |
Short 5th finger |
0.5% |
1/191 |
Sacral hypertrichosis |
0.5% |
1/191 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
20.6% |
28/136 |
Type II diabetes mellitus |
1.5% |
2/136 |
Growth hormone deficiency |
5.9% |
8/136 |
Hypothyroidism |
9.6% |
13/136 |
Congenital hypothyroidism |
0.7% |
1/136 |
Diabetes mellitus |
1.5% |
2/136 |
Puberty and gonadal disorders |
0.7% |
1/136 |
Gynecomastia |
0.7% |
1/136 |
Type I diabetes mellitus |
0.7% |
1/136 |
Compensated hypothyroidism |
1.5% |
2/136 |
Increased serum free triiodothyronine (fT3) |
0.7% |
1/136 |
Abnormality of thyroid physiology |
0.7% |
1/136 |
Central hypothyroidism |
0.7% |
1/136 |
Abnormality of the metabolic system |
7.4% |
10/136 |
Diabetes mellitus |
0.7% |
1/136 |
Hypercalciuria |
0.7% |
1/136 |
Hyperglycemia |
0.7% |
1/136 |
Hypomagnesemia |
0.7% |
1/136 |
Hypocalcemia |
0.7% |
1/136 |
Neonatal hypoglycemia |
0.7% |
1/136 |
Type I diabetes mellitus |
0.7% |
1/136 |
Hypercholesterolemia |
1.5% |
2/136 |
Anemia |
0.7% |
1/136 |
Vitamin B12 deficiency |
0.7% |
1/136 |
Hypercalcemia |
0.7% |
1/136 |
Abnormality of the immune system |
35.4% |
57/161 |
Recurrent otitis media |
8.1% |
13/161 |
Recurrent upper respiratory tract infections |
8.1% |
13/161 |
Recurrent infections |
14.9% |
24/161 |
Recurrent urinary tract infections |
0.6% |
1/161 |
Recurrent lower respiratory tract infections |
1.9% |
3/161 |
Conjunctivitis |
0.6% |
1/161 |
Recurrent upper and lower respiratory tract infections |
0.6% |
1/161 |
Bronchiolitis |
0.6% |
1/161 |
Allergy |
1.2% |
2/161 |
Decreased antibody level in blood |
0.6% |
1/161 |
Eosinophilia |
0.6% |
1/161 |
Recurrent respiratory infections |
1.9% |
3/161 |
Otitis media |
0.6% |
1/161 |
Recurrent bronchitis |
0.6% |
1/161 |
Eczema |
0.6% |
1/161 |
Respiratory infections in early life |
0.6% |
1/161 |
Recurrent bronchopulmonary infections |
0.6% |
1/161 |
Lymphopenia |
0.6% |
1/161 |
Panhypogammaglobulinemia |
0.6% |
1/161 |
Asthma |
0.6% |
1/161 |
Neoplasia |
|
|
Neoplasia |
0.5% |
1/192 |
Sertoli cell neoplasm |
0.5% |
1/192 |
Leydig cell neoplasia |
0.5% |
1/192 |
Brain neoplasm |
0.5% |
1/192 |