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 |