Gender |
|
|
Male |
51.7% |
119/230 |
Female |
48.3% |
111/230 |
General |
|
|
Motor delay |
98.9% |
187/189 |
Abnormal renal morphology |
0.5% |
1/189 |
Bilateral cryptorchidism |
0.5% |
1/189 |
Hydronephrosis |
0.5% |
1/189 |
Intellectual disabillity |
98.1% |
208/212 |
Abnormal renal morphology |
0.5% |
1/212 |
Bilateral cryptorchidism |
0.5% |
1/212 |
Hydronephrosis |
0.5% |
1/212 |
Neurology |
|
|
Neurological abnormalities |
85.5% |
177/207 |
Muscular hypotonia |
30.0% |
62/207 |
Generalized hypotonia |
19.8% |
41/207 |
Seizures |
16.9% |
35/207 |
Neonatal hypotonia |
8.7% |
18/207 |
Generalized tonic-clonic seizures |
7.2% |
15/207 |
Impaired pain sensation |
6.3% |
13/207 |
Central hypotonia |
3.9% |
8/207 |
EEG abnormality |
3.9% |
8/207 |
Febrile seizures |
3.9% |
8/207 |
Astereognosia |
3.4% |
7/207 |
Impaired visuospatial constructive cognition |
3.4% |
7/207 |
Visual agnosia |
3.4% |
7/207 |
Focal seizures with impairment of consciousness or awareness |
2.9% |
6/207 |
Abnormality of pain sensation |
2.4% |
5/207 |
Absence seizures |
2.4% |
5/207 |
Gait ataxia |
2.4% |
5/207 |
Developmental regression |
1.9% |
4/207 |
Motor delay |
1.9% |
4/207 |
Generalized tonic seizures |
1.4% |
3/207 |
Hyperreflexia |
1.4% |
3/207 |
Broad-based gait |
1.0% |
2/207 |
Colpocephaly |
1.0% |
2/207 |
Delayed myelination |
1.0% |
2/207 |
Focal seizures without impairment of consciousness or awareness |
1.0% |
2/207 |
Gait disturbance |
1.0% |
2/207 |
Generalized myoclonic seizures |
1.0% |
2/207 |
Hypertonia |
1.0% |
2/207 |
Lower limb hypertonia |
1.0% |
2/207 |
Muscular hypotonia of the trunk |
1.0% |
2/207 |
Poor fine motor coordination |
1.0% |
2/207 |
Upper limb hypertonia |
1.0% |
2/207 |
Abnormality of nervous system physiology |
0.5% |
1/207 |
Agenesis of corpus callosum |
0.5% |
1/207 |
Ataxia |
0.5% |
1/207 |
Atonic seizures |
0.5% |
1/207 |
Cerebral palsy |
0.5% |
1/207 |
Dysarthria |
0.5% |
1/207 |
Dysdiadochokinesis |
0.5% |
1/207 |
Dyskinesia |
0.5% |
1/207 |
Dysmetria |
0.5% |
1/207 |
Dysplastic corpus callosum |
0.5% |
1/207 |
Dystonia |
0.5% |
1/207 |
Exercise intolerance |
0.5% |
1/207 |
Gait apraxia |
0.5% |
1/207 |
Generalized seizures |
0.5% |
1/207 |
Global developmental delay |
0.5% |
1/207 |
Headache |
0.5% |
1/207 |
Infantile muscular hypotonia |
0.5% |
1/207 |
Oromandibular dystonia |
0.5% |
1/207 |
Partial agenesis of the corpus callosum |
0.5% |
1/207 |
Poor gross motor coordination |
0.5% |
1/207 |
Posterior fossa cyst |
0.5% |
1/207 |
Postural instability |
0.5% |
1/207 |
Torticollis |
0.5% |
1/207 |
Unsteady gait |
0.5% |
1/207 |
Widened subarachnoid space |
0.5% |
1/207 |
Behavioral problems |
67.9% |
125/184 |
Autistic behavior |
32.1% |
59/184 |
Hyperactivity |
24.5% |
45/184 |
Attention deficit hyperactivity disorder |
13.6% |
25/184 |
Short attention span |
11.4% |
21/184 |
Abnormal fear/anxiety-related behavior |
8.2% |
15/184 |
Autism |
7.6% |
14/184 |
Impaired social interactions |
7.6% |
14/184 |
Stereotypic behavior |
7.6% |
14/184 |
Aggressive behavior |
7.1% |
13/184 |
Obsessive-compulsive behavior |
7.1% |
13/184 |
Hyperkinesis |
5.4% |
10/184 |
Impulsivity |
4.9% |
9/184 |
Abnormal social behavior |
3.3% |
6/184 |
Anxiety |
2.7% |
5/184 |
Behavioral abnormality |
2.7% |
5/184 |
Impaired social reciprocity |
2.7% |
5/184 |
Obsessive-compulsive trait |
2.2% |
4/184 |
Abnormal aggressive, impulsive or violent behavior |
1.6% |
3/184 |
Self-injurious behavior |
1.6% |
3/184 |
Abnormal emotion/affect behavior |
1.1% |
2/184 |
Emotional lability |
1.1% |
2/184 |
Inflexible adherence to routines or rituals |
1.1% |
2/184 |
Oral aversion |
1.1% |
2/184 |
Absent speech |
0.5% |
1/184 |
Agoraphobia |
0.5% |
1/184 |
Clumsiness |
0.5% |
1/184 |
Developmental regression |
0.5% |
1/184 |
Hyperacusis |
0.5% |
1/184 |
Impaired pain sensation |
0.5% |
1/184 |
Overfriendliness |
0.5% |
1/184 |
Phonophobia |
0.5% |
1/184 |
Poor eye contact |
0.5% |
1/184 |
Repetitive compulsive behavior |
0.5% |
1/184 |
Restlessness |
0.5% |
1/184 |
Restrictive behavior |
0.5% |
1/184 |
Rigidity |
0.5% |
1/184 |
Shyness |
0.5% |
1/184 |
Sleep disturbance |
0.5% |
1/184 |
Violent behavior |
0.5% |
1/184 |
Brain abnormality |
72.6% |
119/164 |
Agenesis of corpus callosum |
20.7% |
34/164 |
Hypoplasia of the corpus callosum |
9.1% |
15/164 |
Partial agenesis of the corpus callosum |
8.5% |
14/164 |
Delayed myelination |
7.3% |
12/164 |
Enlarged cisterna magna |
6.1% |
10/164 |
Aplasia/Hypoplasia of the corpus callosum |
5.5% |
9/164 |
Colpocephaly |
4.9% |
8/164 |
Abnormality of the corpus callosum |
3.7% |
6/164 |
Short corpus callosum |
3.7% |
6/164 |
Arachnoid cyst |
3.0% |
5/164 |
Cerebellar cyst |
3.0% |
5/164 |
Dysplastic corpus callosum |
3.0% |
5/164 |
Retrocerebellar cyst |
3.0% |
5/164 |
Thick corpus callosum |
3.0% |
5/164 |
Ventriculomegaly |
2.4% |
4/164 |
Arnold-Chiari type I malformation |
1.8% |
3/164 |
Intracranial cystic lesion |
1.8% |
3/164 |
Aplasia/Hypoplasia of the cerebrum |
1.2% |
2/164 |
Attention deficit hyperactivity disorder |
1.2% |
2/164 |
Cerebellar hypoplasia |
1.2% |
2/164 |
Choroid plexus cyst |
1.2% |
2/164 |
Heterotopia |
1.2% |
2/164 |
Perivascular spaces |
1.2% |
2/164 |
Abnormal thalamic MRI signal intensity |
0.6% |
1/164 |
Absent septum pellucidum |
0.6% |
1/164 |
Aplasia/Hypoplasia involving the central nervous system |
0.6% |
1/164 |
Asymmetric ventricles |
0.6% |
1/164 |
Bilateral intracranial calcifications |
0.6% |
1/164 |
Brain atrophy |
0.6% |
1/164 |
Cavum septum pellucidum |
0.6% |
1/164 |
Cerebral atrophy |
0.6% |
1/164 |
Dandy-Walker malformation |
0.6% |
1/164 |
Encephalopathy |
0.6% |
1/164 |
Enlarged fetal cisterna magna |
0.6% |
1/164 |
Hydrocephalus |
0.6% |
1/164 |
Hypodysplasia of the corpus callosum |
0.6% |
1/164 |
Hypoplasia of the pons |
0.6% |
1/164 |
Lambdoidal craniosynostosis |
0.6% |
1/164 |
Microcephaly |
0.6% |
1/164 |
Midline central nervous system lipomas |
0.6% |
1/164 |
Multiple suture craniosynostosis |
0.6% |
1/164 |
Neonatal hypotonia |
0.6% |
1/164 |
Neoplasm of the central nervous system |
0.6% |
1/164 |
Pachygyria |
0.6% |
1/164 |
Polymicrogyria |
0.6% |
1/164 |
Prominent supraorbital ridges |
0.6% |
1/164 |
Relative macrocephaly |
0.6% |
1/164 |
Sagittal craniosynostosis |
0.6% |
1/164 |
Seizures |
0.6% |
1/164 |
Subarachnoid hemorrhage |
0.6% |
1/164 |
Talipes calcaneovarus |
0.6% |
1/164 |
Facial abnormalities |
|
|
Abnormality of the ear |
61.8% |
126/204 |
Low-set ears |
13.2% |
27/204 |
Abnormality of the pinna |
10.3% |
21/204 |
Low-set, posteriorly rotated ears |
7.8% |
16/204 |
Protruding ear |
5.4% |
11/204 |
Abnormality of the ear |
4.9% |
10/204 |
Abnormality of the outer ear |
4.4% |
9/204 |
Macrotia |
4.4% |
9/204 |
Posteriorly rotated ears |
4.4% |
9/204 |
Uplifted earlobe |
3.9% |
8/204 |
External ear malformation |
2.9% |
6/204 |
Preauricular pit |
2.0% |
4/204 |
Forward facing earlobe |
1.5% |
3/204 |
Overfolded helix |
1.5% |
3/204 |
Underdeveloped superior crus of antihelix |
1.5% |
3/204 |
Abnormal location of ears |
1.0% |
2/204 |
Cholesteatoma |
1.0% |
2/204 |
Cupped ear |
1.0% |
2/204 |
Small earlobe |
1.0% |
2/204 |
Thickened helices |
1.0% |
2/204 |
Abnormality of periauricular region |
0.5% |
1/204 |
Absent earlobe |
0.5% |
1/204 |
Asymmetry of the ears |
0.5% |
1/204 |
Darwin tubercle of helix |
0.5% |
1/204 |
Large earlobe |
0.5% |
1/204 |
Long ear |
0.5% |
1/204 |
Microtia |
0.5% |
1/204 |
Mild hearing impairment |
0.5% |
1/204 |
Periauricular skin pits |
0.5% |
1/204 |
Prominent ear helix |
0.5% |
1/204 |
Recurrent infections of the middle ear |
0.5% |
1/204 |
Satyr ear |
0.5% |
1/204 |
Thick eyebrow |
0.5% |
1/204 |
Abnormality of the eye |
88.6% |
186/210 |
Thick eyebrow |
59.5% |
125/210 |
Long eyelashes |
48.6% |
102/210 |
Downslanted palpebral fissures |
13.8% |
29/210 |
Periorbital wrinkles |
8.1% |
17/210 |
Ptosis |
7.6% |
16/210 |
Synophrys |
7.6% |
16/210 |
Upslanted palpebral fissure |
6.2% |
13/210 |
Epicanthus |
5.7% |
12/210 |
Bilateral ptosis |
3.8% |
8/210 |
Strabismus |
3.8% |
8/210 |
Abnormality of the lacrimal duct |
3.3% |
7/210 |
Long palpebral fissure |
3.3% |
7/210 |
Prominent eyelashes |
3.3% |
7/210 |
Hypertelorism |
2.9% |
6/210 |
Small palpebral fissure |
2.9% |
6/210 |
Unilateral ptosis |
2.9% |
6/210 |
Facial wrinkling |
2.4% |
5/210 |
Highly arched eyebrow |
2.4% |
5/210 |
Short palpebral fissure |
1.9% |
4/210 |
Proptosis |
1.4% |
3/210 |
Abnormality of the periorbital region |
1.0% |
2/210 |
Esotropia |
1.0% |
2/210 |
Nasolacrimal duct obstruction |
1.0% |
2/210 |
Abnormality of the nasolacrimal system |
0.5% |
1/210 |
Blue sclerae |
0.5% |
1/210 |
Broad forehead |
0.5% |
1/210 |
Congenital ptosis |
0.5% |
1/210 |
Decreased lacrimation |
0.5% |
1/210 |
Deeply set eye |
0.5% |
1/210 |
Excessive wrinkled skin |
0.5% |
1/210 |
Exotropia |
0.5% |
1/210 |
High forehead |
0.5% |
1/210 |
Horizontal nystagmus |
0.5% |
1/210 |
Lacrimal duct stenosis |
0.5% |
1/210 |
Lisch nodules |
0.5% |
1/210 |
Long eyebrows |
0.5% |
1/210 |
Lower eyelid edema |
0.5% |
1/210 |
Medial flaring of the eyebrow |
0.5% |
1/210 |
Muscular hypotonia of the trunk |
0.5% |
1/210 |
Periorbital fullness |
0.5% |
1/210 |
Prominent epicanthal folds |
0.5% |
1/210 |
Redundant skin |
0.5% |
1/210 |
Short eyelashes |
0.5% |
1/210 |
Abnormality of the nose |
79.7% |
165/207 |
Broad nasal tip |
42.5% |
88/207 |
Thick nasal alae |
28.0% |
58/207 |
Wide nasal bridge |
24.6% |
51/207 |
Wide nasal base |
20.8% |
43/207 |
Anteverted nares |
18.4% |
38/207 |
Depressed nasal bridge |
13.0% |
27/207 |
Short nose |
11.6% |
24/207 |
Long nose |
8.7% |
18/207 |
Bulbous nose |
4.3% |
9/207 |
Prominent nasal tip |
2.9% |
6/207 |
Wide nose |
1.9% |
4/207 |
Long philtrum |
1.4% |
3/207 |
Narrow nasal tip |
1.4% |
3/207 |
Prominent nasal bridge |
1.4% |
3/207 |
Thick lower lip vermilion |
1.0% |
2/207 |
Abnormal nasal morphology |
0.5% |
1/207 |
Broad philtrum |
0.5% |
1/207 |
Flat nasal alae |
0.5% |
1/207 |
Hypodontia |
0.5% |
1/207 |
Low hanging columella |
0.5% |
1/207 |
Narrow nasal bridge |
0.5% |
1/207 |
Nasal obstruction |
0.5% |
1/207 |
Papule |
0.5% |
1/207 |
Prominent nose |
0.5% |
1/207 |
Retrognathia |
0.5% |
1/207 |
Thick vermilion border |
0.5% |
1/207 |
Thin lower lip vermilion |
0.5% |
1/207 |
Underdeveloped nasal alae |
0.5% |
1/207 |
Abnormality of the mouth |
92.4% |
194/210 |
Wide mouth |
53.3% |
112/210 |
Thick lower lip vermilion |
52.4% |
110/210 |
Thin upper lip vermilion |
28.1% |
59/210 |
Long philtrum |
25.2% |
53/210 |
Thick upper lip vermilion |
21.0% |
44/210 |
Everted lower lip vermilion |
20.5% |
43/210 |
Broad philtrum |
17.6% |
37/210 |
Short philtrum |
13.8% |
29/210 |
Widely spaced teeth |
13.8% |
29/210 |
Delayed eruption of primary teeth |
11.9% |
25/210 |
High palate |
10.5% |
22/210 |
Delayed eruption of permanent teeth |
6.7% |
14/210 |
Gingival overgrowth |
5.2% |
11/210 |
Cleft palate |
4.8% |
10/210 |
Micrognathia |
4.3% |
9/210 |
Hypodontia |
3.8% |
8/210 |
Macroglossia |
2.9% |
6/210 |
Coarse facial features |
2.4% |
5/210 |
Bifid uvula |
1.9% |
4/210 |
Microdontia |
1.9% |
4/210 |
Open mouth |
1.9% |
4/210 |
Abnormality of the philtrum |
1.4% |
3/210 |
Abnormality of dental enamel |
1.0% |
2/210 |
Carious teeth |
1.0% |
2/210 |
High, narrow palate |
1.0% |
2/210 |
Mandibular prognathia |
1.0% |
2/210 |
Retrognathia |
1.0% |
2/210 |
Abnormality of the tongue |
0.5% |
1/210 |
Absent speech |
0.5% |
1/210 |
Advanced eruption of teeth |
0.5% |
1/210 |
Ankyloglossia |
0.5% |
1/210 |
Cleft soft palate |
0.5% |
1/210 |
Conical tooth |
0.5% |
1/210 |
Dental malocclusion |
0.5% |
1/210 |
Downturned corners of mouth |
0.5% |
1/210 |
Everted upper lip vermilion |
0.5% |
1/210 |
Excessive salivation |
0.5% |
1/210 |
Growth delay |
0.5% |
1/210 |
Irregular dentition |
0.5% |
1/210 |
Misalignment of teeth |
0.5% |
1/210 |
Overbite |
0.5% |
1/210 |
Pes planus |
0.5% |
1/210 |
Prominent palatine ridges |
0.5% |
1/210 |
Protruding tongue |
0.5% |
1/210 |
Short chin |
0.5% |
1/210 |
Small, conical teeth |
0.5% |
1/210 |
Smooth philtrum |
0.5% |
1/210 |
Submucous cleft lip |
0.5% |
1/210 |
Thick vermilion border |
0.5% |
1/210 |
Thin lower lip vermilion |
0.5% |
1/210 |
Widely-spaced incisors |
0.5% |
1/210 |
Visual and hearing impairments |
|
|
Abnormal hearing |
25.4% |
50/197 |
Hearing impairment |
13.7% |
27/197 |
Conductive hearing impairment |
3.6% |
7/197 |
Glue ear |
3.0% |
6/197 |
Bilateral sensorineural hearing impairment |
1.5% |
3/197 |
Moderate sensorineural hearing impairment |
1.5% |
3/197 |
Mild hearing impairment |
1.0% |
2/197 |
Severe sensorineural hearing impairment |
1.0% |
2/197 |
Abnormality of the tympanic membrane |
0.5% |
1/197 |
Hearing abnormality |
0.5% |
1/197 |
Hyperacusis |
0.5% |
1/197 |
Mild conductive hearing impairment |
0.5% |
1/197 |
Mixed hearing impairment |
0.5% |
1/197 |
Moderate conductive hearing impairment |
0.5% |
1/197 |
Otitis media |
0.5% |
1/197 |
Recurrent otitis media |
0.5% |
1/197 |
Sensorineural hearing impairment |
0.5% |
1/197 |
Severe hearing impairment |
0.5% |
1/197 |
Unilateral |
0.5% |
1/197 |
Abnormal vision |
55.7% |
103/185 |
Myopia |
21.6% |
40/185 |
Strabismus |
11.9% |
22/185 |
Visual impairment |
7.6% |
14/185 |
Astigmatism |
7.0% |
13/185 |
Hypermetropia |
5.9% |
11/185 |
Severe Myopia |
5.9% |
11/185 |
Nystagmus |
3.8% |
7/185 |
Abnormality of refraction |
3.2% |
6/185 |
Exotropia |
2.2% |
4/185 |
Unilateral strabismus |
1.6% |
3/185 |
Abnormality of vision |
1.1% |
2/185 |
Amblyopia |
1.1% |
2/185 |
Optic nerve hypoplasia |
1.1% |
2/185 |
Abnormality of the optic disc |
0.5% |
1/185 |
Blurred vision |
0.5% |
1/185 |
Cataract |
0.5% |
1/185 |
Coloboma |
0.5% |
1/185 |
Congenital cataract |
0.5% |
1/185 |
Corneal ulceration |
0.5% |
1/185 |
Cortical visual impairment |
0.5% |
1/185 |
Esotropia |
0.5% |
1/185 |
Increased intraocular pressure |
0.5% |
1/185 |
Keratoconus |
0.5% |
1/185 |
Optic nerve coloboma |
0.5% |
1/185 |
Peripapillary chorioretinal atrophy |
0.5% |
1/185 |
Heart |
|
|
Abnormality of the heart |
25.1% |
46/183 |
Atria septal defect |
9.8% |
18/183 |
Ventricular septal defect |
4.4% |
8/183 |
Patent foramen ovale |
2.2% |
4/183 |
Abnormality of the aortic valve |
1.6% |
3/183 |
Heart murmur |
1.6% |
3/183 |
Mitral regurgitation |
1.6% |
3/183 |
Abnormality of the aortic arch |
1.1% |
2/183 |
Bicuspid aortic valve |
1.1% |
2/183 |
Coarctation of aorta |
1.1% |
2/183 |
Abnormality of the vasculature |
0.5% |
1/183 |
Atrioventricular canal defect |
0.5% |
1/183 |
Bradycardia |
0.5% |
1/183 |
Cyanosis |
0.5% |
1/183 |
Left-to-right shunt |
0.5% |
1/183 |
Non-restrictive ventricular septal defect |
0.5% |
1/183 |
Patent ductus arteriosus |
0.5% |
1/183 |
Primum atrial septal defect |
0.5% |
1/183 |
Right ventricular dilatation |
0.5% |
1/183 |
Secundum atrial septal defect |
0.5% |
1/183 |
Ventricular extrasystoles |
0.5% |
1/183 |
Pulmonary |
|
|
Abnormality of the lungs |
13.3% |
2/15 |
Asthma |
6.7% |
1/15 |
Recurrent respiratory infections |
6.7% |
1/15 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
60.0% |
111/185 |
Constipation |
22.2% |
41/185 |
Feeding difficulties in infancy |
16.8% |
31/185 |
Gastroesophageal reflux |
13.0% |
24/185 |
Feeding difficulties |
11.4% |
21/185 |
Umbilical hernia |
4.3% |
8/185 |
Diarrhea |
2.7% |
5/185 |
Inguinal hernia |
2.7% |
5/185 |
Failure to thrive |
2.2% |
4/185 |
Poor suck |
2.2% |
4/185 |
Gastrostomy tube feeding in infancy |
1.6% |
3/185 |
Nasogastric tube feeding in infancy |
1.6% |
3/185 |
Abnormality of the intestine |
1.1% |
2/185 |
Failure to thrive in infancy |
1.1% |
2/185 |
Hernia of the abdominal wall |
1.1% |
2/185 |
Lactose intolerance |
1.1% |
2/185 |
Laryngomalacia |
1.1% |
2/185 |
Pyloric stenosis |
1.1% |
2/185 |
Vomiting |
1.1% |
2/185 |
Abnormal vascular physiology |
0.5% |
1/185 |
Anal fistula |
0.5% |
1/185 |
Aspiration |
0.5% |
1/185 |
Celiac disease |
0.5% |
1/185 |
Cow milk allergy |
0.5% |
1/185 |
Dehydration |
0.5% |
1/185 |
Episodic vomiting |
0.5% |
1/185 |
Esophagitis |
0.5% |
1/185 |
Hepatosplenomegaly |
0.5% |
1/185 |
Hiatus hernia |
0.5% |
1/185 |
Hyperinsulinemia |
0.5% |
1/185 |
Intestinal obstruction |
0.5% |
1/185 |
Malnutrition |
0.5% |
1/185 |
Ulcerative colitis |
0.5% |
1/185 |
Urogenital |
|
|
Abnormality of the urogenital system |
40.1% |
69/172 |
Bilateral cryptorchidism |
12.8% |
22/172 |
Cryptorchidism |
8.1% |
14/172 |
Unilateral cryptorchidism |
8.1% |
14/172 |
Hydronephrosis |
2.9% |
5/172 |
Nephrolithiasis |
2.9% |
5/172 |
Inguinal hernia |
2.3% |
4/172 |
Retractile testis |
2.3% |
4/172 |
Vesicoureteral reflux |
1.7% |
3/172 |
Abnormality of the penis |
1.2% |
2/172 |
Increased size of the clitoris |
1.2% |
2/172 |
Abnormality of the ureter |
0.6% |
1/172 |
Aplasia of the upper vagina |
0.6% |
1/172 |
Clitoral hypertrophy |
0.6% |
1/172 |
Enuresis nocturna |
0.6% |
1/172 |
Hydroureter |
0.6% |
1/172 |
Hypoplastic male external genitalia |
0.6% |
1/172 |
Nephrocalcinosis |
0.6% |
1/172 |
Proteinuria |
0.6% |
1/172 |
Pyelonephritis |
0.6% |
1/172 |
Renal dysplasia |
0.6% |
1/172 |
Scrotal hypoplasia |
0.6% |
1/172 |
Stage 5 chronic kidney disease |
0.6% |
1/172 |
Unilateral renal atrophy |
0.6% |
1/172 |
Urethral valve |
0.6% |
1/172 |
Urinary retention |
0.6% |
1/172 |
Webbed penis |
0.6% |
1/172 |
Skeleton |
|
|
Skeletal abnormalities |
86.8% |
177/204 |
Scoliosis |
21.1% |
43/204 |
Abnormality of the distal phalanx of the 5th finger |
19.1% |
39/204 |
Clinodactyly |
14.2% |
29/204 |
Prominent interphalangeal joints |
13.2% |
27/204 |
Short distal phalanx of finger |
11.8% |
24/204 |
Sandal gap |
10.3% |
21/204 |
Delayed skeletal maturation |
9.8% |
20/204 |
Brachydactyly syndrome |
8.3% |
17/204 |
Short phalanx of finger |
8.3% |
17/204 |
Long hallux |
6.4% |
13/204 |
Short stature |
6.4% |
13/204 |
Abnormality of the neck |
5.9% |
12/204 |
Abnormality of the sternum |
5.4% |
11/204 |
Pes planus |
4.4% |
9/204 |
Brachycephaly |
3.4% |
7/204 |
Plagiocephaly |
2.9% |
6/204 |
Prominent fingertip pads |
2.9% |
6/204 |
Clinodactyly of the 5th finger |
2.5% |
5/204 |
Joint laxity |
2.5% |
5/204 |
Microcephaly |
2.5% |
5/204 |
Pectus excavatum |
2.5% |
5/204 |
Arthritis |
2.0% |
4/204 |
Patellar dislocation |
2.0% |
4/204 |
Single transverse palmar crease |
2.0% |
4/204 |
Abnormality of the thumb |
1.5% |
3/204 |
Broad thumb |
1.5% |
3/204 |
Cone-shaped epiphysis |
1.5% |
3/204 |
Delayed eruption of permanent teeth |
1.5% |
3/204 |
Dolichocephaly |
1.5% |
3/204 |
Frontal bossing |
1.5% |
3/204 |
Hallux valgus |
1.5% |
3/204 |
Hyperlordosis |
1.5% |
3/204 |
Joint hypermobility |
1.5% |
3/204 |
Short finger |
1.5% |
3/204 |
Abnormality of the distal phalanx of finger |
1.0% |
2/204 |
Accelerated skeletal maturation |
1.0% |
2/204 |
Aplasia/Hypoplasia of the distal phalanges of the hand |
1.0% |
2/204 |
Broad distal phalanx of finger |
1.0% |
2/204 |
Camptodactyly of finger |
1.0% |
2/204 |
Central hypotonia |
1.0% |
2/204 |
Delayed eruption of primary teeth |
1.0% |
2/204 |
Genu valgum |
1.0% |
2/204 |
Short middle phalanx of the 5th finger |
1.0% |
2/204 |
Triphalangeal thumb |
1.0% |
2/204 |
Widely spaced teeth |
1.0% |
2/204 |
Abnormality of the tarsal bones |
0.5% |
1/204 |
Adducted thumb |
0.5% |
1/204 |
Aplasia/Hypoplasia of the distal phalanx of the 5th finger |
0.5% |
1/204 |
Bilateral elbow dislocations |
0.5% |
1/204 |
Broad phalanx of the toes |
0.5% |
1/204 |
Camptodactyly |
0.5% |
1/204 |
Carious teeth |
0.5% |
1/204 |
Clinodactyly of the 4th finger |
0.5% |
1/204 |
Congenital hip dislocation |
0.5% |
1/204 |
Coronal craniosynostosis |
0.5% |
1/204 |
Curved hallux phalanx |
0.5% |
1/204 |
Deep plantar creases |
0.5% |
1/204 |
Delayed eruption of teeth |
0.5% |
1/204 |
Dysharmonic delayed bone age |
0.5% |
1/204 |
Flat occiput |
0.5% |
1/204 |
Gingival overgrowth |
0.5% |
1/204 |
Hip dislocation |
0.5% |
1/204 |
Hypertrichosis |
0.5% |
1/204 |
Hypodontia |
0.5% |
1/204 |
Inguinal hernia |
0.5% |
1/204 |
Joint dislocation |
0.5% |
1/204 |
Kyphosis |
0.5% |
1/204 |
Lambdoidal craniosynostosis |
0.5% |
1/204 |
Limited elbow extension |
0.5% |
1/204 |
Long toe |
0.5% |
1/204 |
Macrocephaly |
0.5% |
1/204 |
Metatarsus adductus |
0.5% |
1/204 |
Micrognathia |
0.5% |
1/204 |
Mild short stature |
0.5% |
1/204 |
Oligodontia |
0.5% |
1/204 |
Overlapping toe |
0.5% |
1/204 |
Posterior plagiocephaly |
0.5% |
1/204 |
Proximal placement of thumb |
0.5% |
1/204 |
Recurrent patellar dislocation |
0.5% |
1/204 |
Rhizomelic arm shortening |
0.5% |
1/204 |
Rocker bottom foot |
0.5% |
1/204 |
Shortening of all phalanges of the toes |
0.5% |
1/204 |
Sparse scalp hair |
0.5% |
1/204 |
Spondylolysis |
0.5% |
1/204 |
Symphalangism affecting the phalanges of the 5th toe |
0.5% |
1/204 |
Talipes valgus |
0.5% |
1/204 |
Thick hair |
0.5% |
1/204 |
Thoracic scoliosis |
0.5% |
1/204 |
Toe syndactyly |
0.5% |
1/204 |
Toe walking |
0.5% |
1/204 |
Valgus foot deformity |
0.5% |
1/204 |
Wide intermamillary distance |
0.5% |
1/204 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
94.8% |
200/211 |
Hypertrichosis |
59.7% |
126/211 |
Sparse scalp hair |
38.9% |
82/211 |
Low anterior hairline |
28.9% |
61/211 |
Hypoplastic fifth fingernail |
23.2% |
49/211 |
Thick hair |
17.1% |
36/211 |
Prominent fingertip pads |
13.3% |
28/211 |
Eczema |
10.4% |
22/211 |
Low posterior hairline |
10.4% |
22/211 |
Small nail |
7.1% |
15/211 |
Hypoplastic fifth toenail |
6.6% |
14/211 |
Generalized hypertrichosis |
6.2% |
13/211 |
Hypoplastic toenails |
5.7% |
12/211 |
Atopic dermatitis |
4.7% |
10/211 |
Wide intermamillary distance |
4.7% |
10/211 |
Hypoplastic fingernail |
4.3% |
9/211 |
Single transverse palmar crease |
2.4% |
5/211 |
Aplasia/Hypoplasia of the nails |
1.9% |
4/211 |
Excessive wrinkled skin |
1.9% |
4/211 |
Fine hair |
1.9% |
4/211 |
Abnormality of the scalp hair |
1.4% |
3/211 |
Cutis marmorata |
1.4% |
3/211 |
Hyperkeratosis |
1.4% |
3/211 |
Nevus |
1.4% |
3/211 |
Abnormally lax or hyperextensible skin |
0.9% |
2/211 |
Cafe-au-lait spot |
0.9% |
2/211 |
Hemangioma |
0.9% |
2/211 |
Hyperpigmentation of the skin |
0.9% |
2/211 |
Hypopigmentation of the skin |
0.9% |
2/211 |
Melanocytic nevus |
0.9% |
2/211 |
Numerous nevi |
0.9% |
2/211 |
Sacral dimple |
0.9% |
2/211 |
Sparse hair |
0.9% |
2/211 |
Thickened skin |
0.9% |
2/211 |
Thin nail |
0.9% |
2/211 |
Thoracic hypertrichosis |
0.9% |
2/211 |
Abnormality of hair growth |
0.5% |
1/211 |
Absent fifth fingernail |
0.5% |
1/211 |
Acanthosis nigricans |
0.5% |
1/211 |
Alopecia |
0.5% |
1/211 |
Bilateral single transverse palmar creases |
0.5% |
1/211 |
Clinodactyly |
0.5% |
1/211 |
Coarse hair |
0.5% |
1/211 |
Congenital giant melanocytic nevus |
0.5% |
1/211 |
Curly hair |
0.5% |
1/211 |
Deep palmar crease |
0.5% |
1/211 |
Depigmentation/hyperpigmentation of skin |
0.5% |
1/211 |
Elbow hypertrichosis |
0.5% |
1/211 |
Facial hypertrichosis |
0.5% |
1/211 |
Few cafe-au-lait spots |
0.5% |
1/211 |
Frontal hirsutism |
0.5% |
1/211 |
Hirsutism |
0.5% |
1/211 |
Hyperhidrosis |
0.5% |
1/211 |
Increased body weight |
0.5% |
1/211 |
Irregular hyperpigmentation |
0.5% |
1/211 |
Jaundice |
0.5% |
1/211 |
Localized skin lesion |
0.5% |
1/211 |
Multiple cafe-au-lait spots |
0.5% |
1/211 |
Neoplasm of the skin |
0.5% |
1/211 |
Pallor |
0.5% |
1/211 |
Polyhydramnios |
0.5% |
1/211 |
Premature skin wrinkling |
0.5% |
1/211 |
Red hair |
0.5% |
1/211 |
Sacral hypertrichosis |
0.5% |
1/211 |
Short 5th finger |
0.5% |
1/211 |
Skin tags |
0.5% |
1/211 |
Slow-growing nails |
0.5% |
1/211 |
Spotty hyperpigmentation |
0.5% |
1/211 |
Striae distensae |
0.5% |
1/211 |
Thick eyebrow |
0.5% |
1/211 |
Thin toenail |
0.5% |
1/211 |
Urticaria |
0.5% |
1/211 |
Vitiligo |
0.5% |
1/211 |
Webbed neck |
0.5% |
1/211 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
20.1% |
31/154 |
Hypothyroidism |
8.4% |
13/154 |
Growth hormone deficiency |
5.8% |
9/154 |
Compensated hypothyroidism |
1.3% |
2/154 |
Diabetes mellitus |
1.3% |
2/154 |
Type II diabetes mellitus |
1.3% |
2/154 |
Abnormality of thyroid physiology |
0.6% |
1/154 |
Central hypothyroidism |
0.6% |
1/154 |
Congenital hypothyroidism |
0.6% |
1/154 |
Decreased circulating cortisol level |
0.6% |
1/154 |
Gynecomastia |
0.6% |
1/154 |
Increased circulating androgen level |
0.6% |
1/154 |
Puberty and gonadal disorders |
0.6% |
1/154 |
Type I diabetes mellitus |
0.6% |
1/154 |
Abnormality of the metabolic system |
8.4% |
13/155 |
Hypercholesterolemia |
1.3% |
2/155 |
Hypocalcemia |
1.3% |
2/155 |
Abnormality of metabolism/homeostasis |
0.6% |
1/155 |
Anemia |
0.6% |
1/155 |
Diabetes mellitus |
0.6% |
1/155 |
Hyperammonemia |
0.6% |
1/155 |
Hypomagnesemia |
0.6% |
1/155 |
Neonatal hypoglycemia |
0.6% |
1/155 |
Type I diabetes mellitus |
0.6% |
1/155 |
Vitamin B12 deficiency |
0.6% |
1/155 |
Abnormality of the immune system |
36.5% |
66/181 |
Recurrent infections |
13.3% |
24/181 |
Recurrent upper respiratory tract infections |
8.3% |
15/181 |
Eczema |
1.7% |
3/181 |
Recurrent respiratory infections |
1.7% |
3/181 |
Respiratory infections in early life |
1.7% |
3/181 |
Allergy |
1.1% |
2/181 |
Asthma |
0.6% |
1/181 |
Bronchiolitis |
0.6% |
1/181 |
Conjunctivitis |
0.6% |
1/181 |
Decreased antibody level in blood |
0.6% |
1/181 |
Eosinophilia |
0.6% |
1/181 |
Lymphopenia |
0.6% |
1/181 |
Otitis media |
0.6% |
1/181 |
Panhypogammaglobulinemia |
0.6% |
1/181 |
Recurrent infections of the middle ear |
0.6% |
1/181 |
Small vessel vasculitis |
0.6% |
1/181 |
Neoplasia |
|
|
Neoplasia |
0.5% |
1/211 |
Brain neoplasm |
0.5% |
1/211 |
Leydig cell neoplasia |
0.5% |
1/211 |
Sertoli cell neoplasm |
0.5% |
1/211 |