| Gender |
|
|
| Male |
38.1% |
43/113 |
| Female |
61.9% |
70/113 |
| General |
|
|
| Birth Length abnormalities |
29.1% |
43/148 |
| < P3 : Birth length less than 3rd percentile |
29.1% |
43/148 |
| Birth Weight abnormalities |
34.2% |
52/152 |
| < P3 : Small for gestational age |
32.2% |
49/152 |
| > P98 : Large for gestational age |
2.0% |
3/152 |
| Birth Head circumference abnormalities |
34.0% |
50/147 |
| < P3 : Primary microcephaly |
34.0% |
50/147 |
| Current Height abnormalities |
40.0% |
60/150 |
| < P3 : Short stature |
38.0% |
57/150 |
| > P98 : Tall stature |
2.0% |
3/150 |
| Current Weight abnormalities |
35.3% |
54/153 |
| < P3 : Decreased body weight |
35.3% |
54/153 |
| Current Head circumference abnormalities |
44.0% |
66/150 |
| < P3 : Microcephaly |
43.3% |
65/150 |
| > P98 : Macrocephaly |
0.7% |
1/150 |
| Neurology |
|
|
| Neurological abnormalities |
98.2% |
109/111 |
| Severe global developmental delay |
37.8% |
42/111 |
| Motor delay |
34.2% |
38/111 |
| Delayed speech and language development |
33.3% |
37/111 |
| Global developmental delay |
26.1% |
29/111 |
| Generalized hypotonia |
25.2% |
28/111 |
| Gait disturbance |
23.4% |
26/111 |
| Seizure |
19.8% |
22/111 |
| Neonatal hypotonia |
14.4% |
16/111 |
| Moderate global developmental delay |
12.6% |
14/111 |
| Delayed fine motor development |
11.7% |
13/111 |
| Poor fine motor coordination |
11.7% |
13/111 |
| Absent speech |
9.9% |
11/111 |
| Microcephaly |
9.0% |
10/111 |
| obsolete Poor coordination |
7.2% |
8/111 |
| obsolete Toe walking |
7.2% |
8/111 |
| Delayed gross motor development |
6.3% |
7/111 |
| Gait imbalance |
5.4% |
6/111 |
| Generalized neonatal hypotonia |
5.4% |
6/111 |
| Developmental regression |
4.5% |
5/111 |
| Expressive language delay |
4.5% |
5/111 |
| Frequent falls |
4.5% |
5/111 |
| Generalized non-motor (absence) seizure |
4.5% |
5/111 |
| Inability to walk |
4.5% |
5/111 |
| obsolete Poor motor coordination |
4.5% |
5/111 |
| Apraxia |
3.6% |
4/111 |
| Bilateral tonic-clonic seizure |
3.6% |
4/111 |
| Broad-based gait |
3.6% |
4/111 |
| Cerebral palsy |
3.6% |
4/111 |
| EEG abnormality |
3.6% |
4/111 |
| Dystonia |
2.7% |
3/111 |
| Floppy infant |
2.7% |
3/111 |
| Hemiparesis |
2.7% |
3/111 |
| Limb hypertonia |
2.7% |
3/111 |
| Myoclonus |
2.7% |
3/111 |
| obsolete Infantile axial hypotonia |
2.7% |
3/111 |
| Profound intellectual disability |
2.7% |
3/111 |
| Severe intellectual disability |
2.7% |
3/111 |
| Ventriculomegaly |
2.7% |
3/111 |
| Attention deficit hyperactivity disorder |
1.8% |
2/111 |
| Autism |
1.8% |
2/111 |
| Difficulty standing |
1.8% |
2/111 |
| Gait apraxia |
1.8% |
2/111 |
| Generalized myoclonic seizure |
1.8% |
2/111 |
| Generalized myoclonic-atonic seizure |
1.8% |
2/111 |
| Hypoplasia of the corpus callosum |
1.8% |
2/111 |
| Migraine |
1.8% |
2/111 |
| Mild intellectual disability |
1.8% |
2/111 |
| Neurodevelopmental delay |
1.8% |
2/111 |
| obsolete Joint hyperflexibility |
1.8% |
2/111 |
| obsolete Difficulty walking |
1.8% |
2/111 |
| Profound global developmental delay |
1.8% |
2/111 |
| Receptive language delay |
1.8% |
2/111 |
| Abducens palsy |
0.9% |
1/111 |
| Abnormality of coordination |
0.9% |
1/111 |
| Abnormal pyramidal sign |
0.9% |
1/111 |
| Abnormal choroid plexus morphology |
0.9% |
1/111 |
| Abnormal posturing |
0.9% |
1/111 |
| Abnormal muscle tone |
0.9% |
1/111 |
| Absent Achilles reflex |
0.9% |
1/111 |
| Agenesis of corpus callosum |
0.9% |
1/111 |
| Aphasia |
0.9% |
1/111 |
| Arachnoid cyst |
0.9% |
1/111 |
| Atonic seizure |
0.9% |
1/111 |
| Axial hypotonia |
0.9% |
1/111 |
| Bowel incontinence |
0.9% |
1/111 |
| Brachial plexus neuropathy |
0.9% |
1/111 |
| Bulbar palsy |
0.9% |
1/111 |
| Chorea |
0.9% |
1/111 |
| Cognitive impairment |
0.9% |
1/111 |
| Craniosynostosis |
0.9% |
1/111 |
| Dandy-Walker malformation |
0.9% |
1/111 |
| Delayed cranial suture closure |
0.9% |
1/111 |
| Dolichocephaly |
0.9% |
1/111 |
| EEG with generalized epileptiform discharges |
0.9% |
1/111 |
| Epileptic spasm |
0.9% |
1/111 |
| Episodic generalized hypotonia |
0.9% |
1/111 |
| Episodic vomiting |
0.9% |
1/111 |
| Esotropia |
0.9% |
1/111 |
| Exaggerated startle response |
0.9% |
1/111 |
| Facial grimacing |
0.9% |
1/111 |
| Focal clonic seizure |
0.9% |
1/111 |
| Gait ataxia |
0.9% |
1/111 |
| Hydrocephalus |
0.9% |
1/111 |
| Hypotonia |
0.9% |
1/111 |
| Inability to walk by childhood/adolescence |
0.9% |
1/111 |
| Increased intracranial pressure |
0.9% |
1/111 |
| Increased femoral anteversion |
0.9% |
1/111 |
| Intellectual disability |
0.9% |
1/111 |
| Joint hypermobility |
0.9% |
1/111 |
| Microphthalmia |
0.9% |
1/111 |
| Migraine with aura |
0.9% |
1/111 |
| Mild global developmental delay |
0.9% |
1/111 |
| Moderate intellectual disability |
0.9% |
1/111 |
| Moderate receptive language delay |
0.9% |
1/111 |
| Motor stereotypy |
0.9% |
1/111 |
| Motor deterioration |
0.9% |
1/111 |
| Muscle stiffness |
0.9% |
1/111 |
| Muscle weakness |
0.9% |
1/111 |
| Myoclonic spasms |
0.9% |
1/111 |
| Myotonia |
0.9% |
1/111 |
| obsolete Ligamentous laxity |
0.9% |
1/111 |
| Pain insensitivity |
0.9% |
1/111 |
| Parkinsonism |
0.9% |
1/111 |
| Partial absence of the septum pellucidum |
0.9% |
1/111 |
| Periventricular leukomalacia |
0.9% |
1/111 |
| Plagiocephaly |
0.9% |
1/111 |
| Poor gross motor coordination |
0.9% |
1/111 |
| Repetitive compulsive behavior |
0.9% |
1/111 |
| Severe receptive language delay |
0.9% |
1/111 |
| Severe expressive language delay |
0.9% |
1/111 |
| Somatic sensory dysfunction |
0.9% |
1/111 |
| Spasticity |
0.9% |
1/111 |
| Specific learning disability |
0.9% |
1/111 |
| Spina bifida occulta |
0.9% |
1/111 |
| Stroke |
0.9% |
1/111 |
| Tremor |
0.9% |
1/111 |
| Unsteady gait |
0.9% |
1/111 |
| Vasovagal syncope |
0.9% |
1/111 |
| Vocal cord paralysis |
0.9% |
1/111 |
| Behavioral problems |
93.3% |
83/89 |
| Absent speech |
30.3% |
27/89 |
| Reduced eye contact |
30.3% |
27/89 |
| Short attention span |
25.8% |
23/89 |
| Aggressive behavior |
21.3% |
19/89 |
| Delayed speech and language development |
21.3% |
19/89 |
| Hyperactivity |
19.1% |
17/89 |
| Autistic behavior |
18.0% |
16/89 |
| Attention deficit hyperactivity disorder |
16.9% |
15/89 |
| Self-biting |
14.6% |
13/89 |
| Anxiety |
12.4% |
11/89 |
| Self-injurious behavior |
12.4% |
11/89 |
| Repetitive compulsive behavior |
11.2% |
10/89 |
| Agitation |
10.1% |
9/89 |
| Autism |
9.0% |
8/89 |
| Impulsivity |
9.0% |
8/89 |
| Irritability |
7.9% |
7/89 |
| Low frustration tolerance |
7.9% |
7/89 |
| Motor stereotypy |
7.9% |
7/89 |
| Profound intellectual disability |
6.7% |
6/89 |
| Compulsive behaviors |
5.6% |
5/89 |
| Global developmental delay |
5.6% |
5/89 |
| Head-banging |
5.6% |
5/89 |
| Somatic sensory dysfunction |
5.6% |
5/89 |
| Drooling |
4.5% |
4/89 |
| Expressive language delay |
4.5% |
4/89 |
| Hair-pulling |
4.5% |
4/89 |
| Moderate global developmental delay |
4.5% |
4/89 |
| obsolete Abnormal aggressive, impulsive or violent behavior |
4.5% |
4/89 |
| Receptive language delay |
4.5% |
4/89 |
| Developmental regression |
3.4% |
3/89 |
| Intellectual disability |
3.4% |
3/89 |
| Recurrent hand flapping |
3.4% |
3/89 |
| Sleep disturbance |
3.4% |
3/89 |
| Specific learning disability |
3.4% |
3/89 |
| obsolete Mood swings |
2.2% |
2/89 |
| obsolete Poor coordination |
2.2% |
2/89 |
| Oppositional defiant disorder |
2.2% |
2/89 |
| Restlessness |
2.2% |
2/89 |
| Self-mutilation |
2.2% |
2/89 |
| Violent behavior |
2.2% |
2/89 |
| Abnormal eating behavior |
1.1% |
1/89 |
| Atypical behavior |
1.1% |
1/89 |
| Broad-based gait |
1.1% |
1/89 |
| Cognitive impairment |
1.1% |
1/89 |
| Conspicuously happy disposition |
1.1% |
1/89 |
| Delayed early-childhood social milestone development |
1.1% |
1/89 |
| Difficulty standing |
1.1% |
1/89 |
| Dysgraphia |
1.1% |
1/89 |
| Emotional lability |
1.1% |
1/89 |
| Generalized hypotonia |
1.1% |
1/89 |
| Impaired visuospatial constructive cognition |
1.1% |
1/89 |
| Motor tics |
1.1% |
1/89 |
| Nail-biting |
1.1% |
1/89 |
| obsolete Socially inappropriate behavior |
1.1% |
1/89 |
| obsolete Toe walking |
1.1% |
1/89 |
| Phonic tics |
1.1% |
1/89 |
| Pica |
1.1% |
1/89 |
| Poor fine motor coordination |
1.1% |
1/89 |
| Sensory neuropathy |
1.1% |
1/89 |
| Severe global developmental delay |
1.1% |
1/89 |
| Severe receptive language delay |
1.1% |
1/89 |
| Severe expressive language delay |
1.1% |
1/89 |
| Severe intellectual disability |
1.1% |
1/89 |
| Slurred speech |
1.1% |
1/89 |
| Stereotypical hand wringing |
1.1% |
1/89 |
| Stereotypical body rocking |
1.1% |
1/89 |
| Brain abnormality |
71.8% |
61/85 |
| Hypoplasia of the corpus callosum |
18.8% |
16/85 |
| Ventriculomegaly |
17.6% |
15/85 |
| Periventricular leukomalacia |
16.5% |
14/85 |
| Abnormal periventricular white matter morphology |
7.1% |
6/85 |
| Aplasia/Hypoplasia of the corpus callosum |
7.1% |
6/85 |
| Agenesis of corpus callosum |
4.7% |
4/85 |
| Cerebral atrophy |
4.7% |
4/85 |
| EEG abnormality |
4.7% |
4/85 |
| Abnormal cerebral ventricle morphology |
3.5% |
3/85 |
| Cerebral white matter hypoplasia |
3.5% |
3/85 |
| Hydrocephalus |
3.5% |
3/85 |
| Abnormal subarachnoid space morphology |
2.4% |
2/85 |
| Abnormal cerebral white matter morphology |
2.4% |
2/85 |
| Aplasia/Hypoplasia of the cerebral white matter |
2.4% |
2/85 |
| Arachnoid cyst |
2.4% |
2/85 |
| Central nervous system cyst |
2.4% |
2/85 |
| Cerebellar vermis hypoplasia |
2.4% |
2/85 |
| Cerebral cortical atrophy |
2.4% |
2/85 |
| Gliosis |
2.4% |
2/85 |
| Hypointensity of cerebral white matter on MRI |
2.4% |
2/85 |
| Intracranial hemorrhage |
2.4% |
2/85 |
| Widened subarachnoid space |
2.4% |
2/85 |
| Abnormal basal ganglia morphology |
1.2% |
1/85 |
| Abnormal anterior fontanelle morphology |
1.2% |
1/85 |
| Abnormal corpus callosum morphology |
1.2% |
1/85 |
| Abnormal lateral ventricle morphology |
1.2% |
1/85 |
| Abnormal globus pallidus morphology |
1.2% |
1/85 |
| Abnormal cerebral cortex morphology |
1.2% |
1/85 |
| Abnormality of extrapyramidal motor function |
1.2% |
1/85 |
| Abnormal size of pituitary gland |
1.2% |
1/85 |
| Abnormal fourth ventricle morphology |
1.2% |
1/85 |
| Abnormal morphology of the limbic system |
1.2% |
1/85 |
| Absent septum pellucidum |
1.2% |
1/85 |
| Aplasia/Hypoplasia of the cerebellar vermis |
1.2% |
1/85 |
| Brain neoplasm |
1.2% |
1/85 |
| Cerebral white matter atrophy |
1.2% |
1/85 |
| Cerebellar atrophy |
1.2% |
1/85 |
| Colpocephaly |
1.2% |
1/85 |
| Communicating hydrocephalus |
1.2% |
1/85 |
| Delayed closure of the anterior fontanelle |
1.2% |
1/85 |
| Delayed CNS myelination |
1.2% |
1/85 |
| Diffuse demyelination of the cerebral white matter |
1.2% |
1/85 |
| EEG with generalized spikes |
1.2% |
1/85 |
| EEG with polyspike wave complexes |
1.2% |
1/85 |
| Encephalomalacia |
1.2% |
1/85 |
| Enlarged hippocampus |
1.2% |
1/85 |
| Enlarged cisterna magna |
1.2% |
1/85 |
| Extra-axial cerebrospinal fluid accumulation |
1.2% |
1/85 |
| Focal T2 hyperintense basal ganglia lesion |
1.2% |
1/85 |
| Hypodysplasia of the corpus callosum |
1.2% |
1/85 |
| Hypoplasia of the brainstem |
1.2% |
1/85 |
| Intraventricular hemorrhage |
1.2% |
1/85 |
| Intracranial cystic lesion |
1.2% |
1/85 |
| Lateral ventricle dilatation |
1.2% |
1/85 |
| Medulloblastoma |
1.2% |
1/85 |
| Microcephaly |
1.2% |
1/85 |
| Mild fetal ventriculomegaly |
1.2% |
1/85 |
| Multiple suture craniosynostosis |
1.2% |
1/85 |
| Noncommunicating hydrocephalus |
1.2% |
1/85 |
| Periventricular cysts |
1.2% |
1/85 |
| Small pituitary gland |
1.2% |
1/85 |
| Stroke |
1.2% |
1/85 |
| Subcortical white matter calcifications |
1.2% |
1/85 |
| Venous thrombosis |
1.2% |
1/85 |
| Wide anterior fontanel |
1.2% |
1/85 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
60.4% |
61/101 |
| Low-set ears |
36.6% |
37/101 |
| Large fleshy ears |
6.9% |
7/101 |
| Auricular tag |
4.0% |
4/101 |
| Prominent ear helix |
4.0% |
4/101 |
| obsolete Low-set, posteriorly rotated ears |
3.0% |
3/101 |
| Abnormal pinna morphology |
2.0% |
2/101 |
| Bilateral sensorineural hearing impairment |
2.0% |
2/101 |
| Chronic otitis media |
2.0% |
2/101 |
| Hearing impairment |
2.0% |
2/101 |
| Protruding ear |
2.0% |
2/101 |
| Abnormal earlobe morphology |
1.0% |
1/101 |
| Abnormality of the outer ear |
1.0% |
1/101 |
| Abnormal tympanic membrane morphology |
1.0% |
1/101 |
| Abnormality of inferior crus of antihelix |
1.0% |
1/101 |
| Auricular pit |
1.0% |
1/101 |
| Blocked Eustachian tube |
1.0% |
1/101 |
| Cupped ear |
1.0% |
1/101 |
| Large earlobe |
1.0% |
1/101 |
| Long ear |
1.0% |
1/101 |
| Narrow palpebral fissure |
1.0% |
1/101 |
| Overfolding of the superior helices |
1.0% |
1/101 |
| Posteriorly rotated ears |
1.0% |
1/101 |
| Preauricular pit |
1.0% |
1/101 |
| Primitive reflex |
1.0% |
1/101 |
| Prominent crus of helix |
1.0% |
1/101 |
| Prominent nasolabial fold |
1.0% |
1/101 |
| Recurrent otitis media |
1.0% |
1/101 |
| Short columella |
1.0% |
1/101 |
| Stenosis of the external auditory canal |
1.0% |
1/101 |
| Uplifted earlobe |
1.0% |
1/101 |
| Vertical forehead creases |
1.0% |
1/101 |
| Abnormality of the eye |
92.2% |
95/103 |
| Long eyelashes |
38.8% |
40/103 |
| Thick eyebrow |
35.0% |
36/103 |
| Abnormally large globe |
23.3% |
24/103 |
| Hypertelorism |
19.4% |
20/103 |
| Downslanted palpebral fissures |
17.5% |
18/103 |
| Astigmatism |
12.6% |
13/103 |
| Strabismus |
12.6% |
13/103 |
| Highly arched eyebrow |
11.7% |
12/103 |
| Cerebral visual impairment |
8.7% |
9/103 |
| Prominent eyelashes |
8.7% |
9/103 |
| Myopia |
7.8% |
8/103 |
| Synophrys |
7.8% |
8/103 |
| Deeply set eye |
6.8% |
7/103 |
| obsolete Prominent epicanthal folds |
6.8% |
7/103 |
| Exotropia |
5.8% |
6/103 |
| Amblyopia |
4.9% |
5/103 |
| Anophthalmia |
4.9% |
5/103 |
| Blindness |
4.9% |
5/103 |
| Horizontal eyebrow |
4.9% |
5/103 |
| Hypermetropia |
4.9% |
5/103 |
| Esotropia |
3.9% |
4/103 |
| Long eyebrows |
3.9% |
4/103 |
| Nystagmus |
3.9% |
4/103 |
| Abnormal optic nerve morphology |
2.9% |
3/103 |
| Hypotelorism |
2.9% |
3/103 |
| Microphthalmia |
2.9% |
3/103 |
| Monocular strabismus |
2.9% |
3/103 |
| Ptosis |
2.9% |
3/103 |
| Abnormal pupil morphology |
1.9% |
2/103 |
| Abnormality of the palpebral fissures |
1.9% |
2/103 |
| Aplasia/Hypoplasia of the optic nerve |
1.9% |
2/103 |
| High myopia |
1.9% |
2/103 |
| Microcornea |
1.9% |
2/103 |
| Optic nerve aplasia |
1.9% |
2/103 |
| Palpebral edema |
1.9% |
2/103 |
| Abnormal eyelid morphology |
1.0% |
1/103 |
| Abnormality of vision |
1.0% |
1/103 |
| Abnormal lacrimal duct morphology |
1.0% |
1/103 |
| Abnormal eyelash morphology |
1.0% |
1/103 |
| Abnormality of corneal size |
1.0% |
1/103 |
| Abnormal optic disc morphology |
1.0% |
1/103 |
| Abnormal eye morphology |
1.0% |
1/103 |
| Almond-shaped palpebral fissure |
1.0% |
1/103 |
| Aplasia/Hypoplasia affecting the eye |
1.0% |
1/103 |
| Bilateral ptosis |
1.0% |
1/103 |
| Congenital bilateral ptosis |
1.0% |
1/103 |
| Divergence nystagmus |
1.0% |
1/103 |
| Facial asymmetry |
1.0% |
1/103 |
| Focal seizure with eyelid myoclonia |
1.0% |
1/103 |
| Hyperopic astigmatism |
1.0% |
1/103 |
| Keratoconus |
1.0% |
1/103 |
| Lacrimal duct aplasia |
1.0% |
1/103 |
| Long palpebral fissure |
1.0% |
1/103 |
| Low frustration tolerance |
1.0% |
1/103 |
| Medial flaring of the eyebrow |
1.0% |
1/103 |
| Microcephaly |
1.0% |
1/103 |
| Narrow palpebral fissure |
1.0% |
1/103 |
| obsolete Congenital visual impairment |
1.0% |
1/103 |
| Oculomotor apraxia |
1.0% |
1/103 |
| Persistent pupillary membrane |
1.0% |
1/103 |
| Prominent forehead |
1.0% |
1/103 |
| Short palpebral fissure |
1.0% |
1/103 |
| Short columella |
1.0% |
1/103 |
| Upslanted palpebral fissure |
1.0% |
1/103 |
| Abnormality of the nose |
80.4% |
74/92 |
| Wide nasal bridge |
40.2% |
37/92 |
| Prominent nasal tip |
34.8% |
32/92 |
| Broad nasal tip |
16.3% |
15/92 |
| Anteverted nares |
10.9% |
10/92 |
| Short nose |
4.3% |
4/92 |
| Flared nostrils |
3.3% |
3/92 |
| Wide nasal base |
3.3% |
3/92 |
| Abnormal nasal bridge morphology |
2.2% |
2/92 |
| Bulbous nose |
2.2% |
2/92 |
| Depressed nasal bridge |
2.2% |
2/92 |
| Primitive reflex |
2.2% |
2/92 |
| Abnormal nasal tip morphology |
1.1% |
1/92 |
| Abnormal morphology of the nasal alae |
1.1% |
1/92 |
| Broad columella |
1.1% |
1/92 |
| Deviated nasal septum |
1.1% |
1/92 |
| Increased size of nasopharyngeal adenoids |
1.1% |
1/92 |
| Narrow nasal bridge |
1.1% |
1/92 |
| obsolete Large beaked nose |
1.1% |
1/92 |
| obsolete Thin anteverted nares |
1.1% |
1/92 |
| Short columella |
1.1% |
1/92 |
| Thick nasal alae |
1.1% |
1/92 |
| Abnormality of the mouth |
83.3% |
80/96 |
| High palate |
27.1% |
26/96 |
| Short philtrum |
13.5% |
13/96 |
| Thin upper lip vermilion |
12.5% |
12/96 |
| Long philtrum |
11.5% |
11/96 |
| Micrognathia |
11.5% |
11/96 |
| Abnormality of upper lip vermillion |
10.4% |
10/96 |
| Broad philtrum |
6.3% |
6/96 |
| Drooling |
6.3% |
6/96 |
| Tented philtrum |
6.3% |
6/96 |
| Ankyloglossia |
5.2% |
5/96 |
| Full cheeks |
5.2% |
5/96 |
| Abnormality of the tongue |
4.2% |
4/96 |
| Bruxism |
4.2% |
4/96 |
| High, narrow palate |
4.2% |
4/96 |
| Macrodontia |
4.2% |
4/96 |
| Narrow palate |
4.2% |
4/96 |
| Retrognathia |
4.2% |
4/96 |
| Tented upper lip vermilion |
4.2% |
4/96 |
| Thin vermilion border |
4.2% |
4/96 |
| Widely spaced teeth |
4.2% |
4/96 |
| Wide mouth |
4.2% |
4/96 |
| Abnormality of the philtrum |
3.1% |
3/96 |
| Deep philtrum |
3.1% |
3/96 |
| Microretrognathia |
3.1% |
3/96 |
| Short chin |
3.1% |
3/96 |
| Smooth philtrum |
3.1% |
3/96 |
| Thick upper lip vermilion |
3.1% |
3/96 |
| Abnormal lip morphology |
2.1% |
2/96 |
| Carious teeth |
2.1% |
2/96 |
| Coarse facial features |
2.1% |
2/96 |
| Delayed eruption of primary teeth |
2.1% |
2/96 |
| Dental malocclusion |
2.1% |
2/96 |
| Gingival overgrowth |
2.1% |
2/96 |
| Irregularly spaced teeth |
2.1% |
2/96 |
| Pursed lips |
2.1% |
2/96 |
| Abnormal upper lip morphology |
1.0% |
1/96 |
| Abnormality of dental eruption |
1.0% |
1/96 |
| Abnormality of the gingiva |
1.0% |
1/96 |
| Abnormality of molar |
1.0% |
1/96 |
| Abnormality of mouth shape |
1.0% |
1/96 |
| Abnormal oral frenulum morphology |
1.0% |
1/96 |
| Abnormal dental root morphology |
1.0% |
1/96 |
| Abnormality of the dentition |
1.0% |
1/96 |
| Agenesis of molar |
1.0% |
1/96 |
| Bifid uvula |
1.0% |
1/96 |
| Compensatory chin elevation |
1.0% |
1/96 |
| Crowded maxillary incisors |
1.0% |
1/96 |
| Dental crowding |
1.0% |
1/96 |
| Diastema |
1.0% |
1/96 |
| Double tooth |
1.0% |
1/96 |
| Downturned corners of mouth |
1.0% |
1/96 |
| Horizontal eyebrow |
1.0% |
1/96 |
| Hypoplasia of teeth |
1.0% |
1/96 |
| Increased overbite |
1.0% |
1/96 |
| Long upper lip |
1.0% |
1/96 |
| Macroglossia |
1.0% |
1/96 |
| Persistence of primary teeth |
1.0% |
1/96 |
| Pointed chin |
1.0% |
1/96 |
| Poor suck |
1.0% |
1/96 |
| Premature loss of permanent teeth |
1.0% |
1/96 |
| Tongue thrusting |
1.0% |
1/96 |
| Tooth malposition |
1.0% |
1/96 |
| Torticollis |
1.0% |
1/96 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
32.0% |
24/75 |
| Hearing impairment |
17.3% |
13/75 |
| Bilateral sensorineural hearing impairment |
2.7% |
2/75 |
| Chronic otitis media |
2.7% |
2/75 |
| Conductive hearing impairment |
2.7% |
2/75 |
| Mild hearing impairment |
2.7% |
2/75 |
| Bilateral conductive hearing impairment |
1.3% |
1/75 |
| Hearing abnormality |
1.3% |
1/75 |
| Low-set ears |
1.3% |
1/75 |
| Otitis media |
1.3% |
1/75 |
| Recurrent otitis media |
1.3% |
1/75 |
| Sensorineural hearing impairment |
1.3% |
1/75 |
| Unilateral deafness |
1.3% |
1/75 |
| Abnormal vision |
77.5% |
69/89 |
| Astigmatism |
33.7% |
30/89 |
| Myopia |
20.2% |
18/89 |
| Strabismus |
16.9% |
15/89 |
| Cerebral visual impairment |
14.6% |
13/89 |
| Exotropia |
10.1% |
9/89 |
| Amblyopia |
9.0% |
8/89 |
| Blindness |
7.9% |
7/89 |
| Esotropia |
6.7% |
6/89 |
| Hypermetropia |
6.7% |
6/89 |
| Nystagmus |
5.6% |
5/89 |
| Anophthalmia |
4.5% |
4/89 |
| Abnormality of vision |
3.4% |
3/89 |
| Hyperopic astigmatism |
3.4% |
3/89 |
| Abnormal optic nerve morphology |
2.2% |
2/89 |
| Abnormal optic disc morphology |
2.2% |
2/89 |
| Anisometropia |
2.2% |
2/89 |
| High myopia |
2.2% |
2/89 |
| Hypertelorism |
2.2% |
2/89 |
| Optic nerve aplasia |
2.2% |
2/89 |
| Optic atrophy |
2.2% |
2/89 |
| Optic disc pallor |
2.2% |
2/89 |
| Ptosis |
2.2% |
2/89 |
| Visual impairment |
2.2% |
2/89 |
| Abnormal fundus morphology |
1.1% |
1/89 |
| Aplasia/Hypoplasia of the optic nerve |
1.1% |
1/89 |
| Chorioretinal hyperpigmentation |
1.1% |
1/89 |
| Extension of hair growth on temples to lateral eyebrow |
1.1% |
1/89 |
| Impaired convergence |
1.1% |
1/89 |
| Microphthalmia |
1.1% |
1/89 |
| Monocular strabismus |
1.1% |
1/89 |
| obsolete Congenital visual impairment |
1.1% |
1/89 |
| Oculomotor apraxia |
1.1% |
1/89 |
| Optic neuropathy |
1.1% |
1/89 |
| Retinal coloboma |
1.1% |
1/89 |
| Visual loss |
1.1% |
1/89 |
| Heart |
|
|
| Abnormality of the heart |
65.1% |
69/106 |
| Prolonged QT interval |
17.0% |
18/106 |
| Hypertrophic cardiomyopathy |
10.4% |
11/106 |
| Cardiac arrest |
9.4% |
10/106 |
| Atrial septal defect |
8.5% |
9/106 |
| Ventricular septal defect |
8.5% |
9/106 |
| Heart murmur |
7.5% |
8/106 |
| Primum atrial septal defect |
6.6% |
7/106 |
| Tachycardia |
6.6% |
7/106 |
| Right ventricular hypertrophy |
5.7% |
6/106 |
| Cardiomegaly |
4.7% |
5/106 |
| Left ventricular hypertrophy |
4.7% |
5/106 |
| Patent ductus arteriosus |
4.7% |
5/106 |
| Supraventricular tachycardia |
4.7% |
5/106 |
| Bicuspid aortic valve |
3.8% |
4/106 |
| Patent foramen ovale |
3.8% |
4/106 |
| Pulmonary arterial hypertension |
3.8% |
4/106 |
| Ventricular hypertrophy |
3.8% |
4/106 |
| Asymmetric septal hypertrophy |
2.8% |
3/106 |
| Atrial fibrillation |
2.8% |
3/106 |
| Bradycardia |
2.8% |
3/106 |
| Pulmonary artery stenosis |
2.8% |
3/106 |
| Sudden cardiac death |
2.8% |
3/106 |
| Abnormal left ventricular outflow tract morphology |
1.9% |
2/106 |
| Abnormal atrial septum morphology |
1.9% |
2/106 |
| Arterial stenosis |
1.9% |
2/106 |
| Complete right bundle branch block |
1.9% |
2/106 |
| Episodic fatigue |
1.9% |
2/106 |
| Mitral regurgitation |
1.9% |
2/106 |
| Pericardial effusion |
1.9% |
2/106 |
| Perimembranous ventricular septal defect |
1.9% |
2/106 |
| Subvalvular aortic stenosis |
1.9% |
2/106 |
| Ventricular septal hypertrophy |
1.9% |
2/106 |
| Abnormal aortic morphology |
0.9% |
1/106 |
| Abnormal thrombosis |
0.9% |
1/106 |
| Abnormal mitral valve morphology |
0.9% |
1/106 |
| Abnormal aortic valve morphology |
0.9% |
1/106 |
| Abnormal vena cava morphology |
0.9% |
1/106 |
| Abnormal tricuspid valve morphology |
0.9% |
1/106 |
| Abnormal left ventricular function |
0.9% |
1/106 |
| Abnormal pulmonary valve morphology |
0.9% |
1/106 |
| Anomalous muscle bundle of the right ventricle |
0.9% |
1/106 |
| Aortic root aneurysm |
0.9% |
1/106 |
| Arrhythmia |
0.9% |
1/106 |
| Atrial septal dilatation |
0.9% |
1/106 |
| Atrial arrhythmia |
0.9% |
1/106 |
| Bundle branch block |
0.9% |
1/106 |
| Cardiomyopathy |
0.9% |
1/106 |
| Congenital laryngeal stridor |
0.9% |
1/106 |
| Dilated cardiomyopathy |
0.9% |
1/106 |
| Left superior vena cava draining to coronary sinus |
0.9% |
1/106 |
| Muscular ventricular septal defect |
0.9% |
1/106 |
| obsolete Congenital septal defect |
0.9% |
1/106 |
| obsolete Aortic dilatation |
0.9% |
1/106 |
| Pulmonary artery dilatation |
0.9% |
1/106 |
| Right atrial enlargement |
0.9% |
1/106 |
| Secundum atrial septal defect |
0.9% |
1/106 |
| Sinus tachycardia |
0.9% |
1/106 |
| Syncope |
0.9% |
1/106 |
| Tachypnea |
0.9% |
1/106 |
| Tetralogy of Fallot with pulmonary stenosis |
0.9% |
1/106 |
| Tetralogy of Fallot |
0.9% |
1/106 |
| Torsade de pointes |
0.9% |
1/106 |
| Tricuspid regurgitation |
0.9% |
1/106 |
| Ventricular fibrillation |
0.9% |
1/106 |
| Ventricular tachycardia |
0.9% |
1/106 |
| Pulmonary |
|
|
| Abnormality of the lungs |
68.8% |
11/16 |
| Respiratory distress |
31.3% |
5/16 |
| Neonatal respiratory distress |
18.8% |
3/16 |
| Abnormal pulmonary interstitial morphology |
6.3% |
1/16 |
| Apnea |
6.3% |
1/16 |
| Aspiration |
6.3% |
1/16 |
| Pulmonary arterial hypertension |
6.3% |
1/16 |
| Respiratory failure requiring assisted ventilation |
6.3% |
1/16 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
94.9% |
94/99 |
| Feeding difficulties in infancy |
60.6% |
60/99 |
| Feeding difficulties |
47.5% |
47/99 |
| Dysphagia |
24.2% |
24/99 |
| Gastroesophageal reflux |
20.2% |
20/99 |
| Gastrostomy tube feeding in infancy |
14.1% |
14/99 |
| Episodic vomiting |
13.1% |
13/99 |
| Bowel incontinence |
12.1% |
12/99 |
| Nasogastric tube feeding in infancy |
10.1% |
10/99 |
| Constipation |
9.1% |
9/99 |
| Poor suck |
9.1% |
9/99 |
| Chronic constipation |
8.1% |
8/99 |
| Diarrhea |
7.1% |
7/99 |
| Esophagitis |
5.1% |
5/99 |
| Food intolerance |
5.1% |
5/99 |
| Vomiting |
5.1% |
5/99 |
| Abnormal esophagus morphology |
4.0% |
4/99 |
| Gastrointestinal dysmotility |
4.0% |
4/99 |
| Pyloric stenosis |
4.0% |
4/99 |
| Celiac disease |
3.0% |
3/99 |
| Fatigable weakness of swallowing muscles |
3.0% |
3/99 |
| Laryngomalacia |
3.0% |
3/99 |
| Prolonged neonatal jaundice |
3.0% |
3/99 |
| Recurrent aspiration pneumonia |
3.0% |
3/99 |
| Abdominal pain |
2.0% |
2/99 |
| Abnormality of the gastrointestinal tract |
2.0% |
2/99 |
| Aspiration |
2.0% |
2/99 |
| Decreased body weight |
2.0% |
2/99 |
| Failure to thrive |
2.0% |
2/99 |
| Inguinal hernia |
2.0% |
2/99 |
| obsolete Dysphasia |
2.0% |
2/99 |
| Oral-pharyngeal dysphagia |
2.0% |
2/99 |
| Poor appetite |
2.0% |
2/99 |
| Abdominal distention |
1.0% |
1/99 |
| Abnormal rectum morphology |
1.0% |
1/99 |
| Aganglionic megacolon |
1.0% |
1/99 |
| Anorectal anomaly |
1.0% |
1/99 |
| Anteriorly placed anus |
1.0% |
1/99 |
| Congenital diaphragmatic hernia |
1.0% |
1/99 |
| Congenital laryngeal stridor |
1.0% |
1/99 |
| Cow milk allergy |
1.0% |
1/99 |
| Drooling |
1.0% |
1/99 |
| Episodic abdominal pain |
1.0% |
1/99 |
| Esophageal stenosis |
1.0% |
1/99 |
| Failure to thrive in infancy |
1.0% |
1/99 |
| Fat malabsorption |
1.0% |
1/99 |
| Graves disease |
1.0% |
1/99 |
| Hepatosplenomegaly |
1.0% |
1/99 |
| Hepatic cysts |
1.0% |
1/99 |
| Intermittent diarrhea |
1.0% |
1/99 |
| Lactose intolerance |
1.0% |
1/99 |
| Long-segment aganglionic megacolon |
1.0% |
1/99 |
| Nausea |
1.0% |
1/99 |
| Nausea and vomiting |
1.0% |
1/99 |
| Pneumonia |
1.0% |
1/99 |
| Projectile vomiting |
1.0% |
1/99 |
| Rectal prolapse |
1.0% |
1/99 |
| Umbilical hernia |
1.0% |
1/99 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
41.9% |
36/86 |
| Recurrent urinary tract infections |
5.8% |
5/86 |
| Cryptorchidism |
4.7% |
4/86 |
| Hydronephrosis |
3.5% |
3/86 |
| Micropenis |
3.5% |
3/86 |
| Precocious puberty in females |
3.5% |
3/86 |
| Hypospadias |
2.3% |
2/86 |
| Precocious puberty |
2.3% |
2/86 |
| Urinary incontinence |
2.3% |
2/86 |
| Abnormality of the ureter |
1.2% |
1/86 |
| Abnormal testis morphology |
1.2% |
1/86 |
| Abnormality of the kidney |
1.2% |
1/86 |
| Abnormality of the menstrual cycle |
1.2% |
1/86 |
| Abnormal circulating creatine kinase concentration |
1.2% |
1/86 |
| Abnormal male external genitalia morphology |
1.2% |
1/86 |
| Bifid scrotum |
1.2% |
1/86 |
| Clitoral hypertrophy |
1.2% |
1/86 |
| Decreased glomerular filtration rate |
1.2% |
1/86 |
| Dilatation of the renal pelvis |
1.2% |
1/86 |
| Dysmenorrhea |
1.2% |
1/86 |
| Enlarged kidney |
1.2% |
1/86 |
| Fetal pyelectasis |
1.2% |
1/86 |
| Functional abnormality of the bladder |
1.2% |
1/86 |
| Hirsutism |
1.2% |
1/86 |
| Hydrocele testis |
1.2% |
1/86 |
| Hypotension |
1.2% |
1/86 |
| Localized hirsutism |
1.2% |
1/86 |
| Menorrhagia |
1.2% |
1/86 |
| Multiple renal cysts |
1.2% |
1/86 |
| Neurogenic bladder |
1.2% |
1/86 |
| Premature thelarche |
1.2% |
1/86 |
| Renal duplication |
1.2% |
1/86 |
| Renal cortical cysts |
1.2% |
1/86 |
| Renal artery stenosis |
1.2% |
1/86 |
| Ureter duplex |
1.2% |
1/86 |
| Skeleton |
|
|
| Skeletal abnormalities |
97.1% |
101/104 |
| Short stature |
31.7% |
33/104 |
| Microcephaly |
26.0% |
27/104 |
| Pectus excavatum |
17.3% |
18/104 |
| Scoliosis |
15.4% |
16/104 |
| obsolete Toe walking |
13.5% |
14/104 |
| Short foot |
13.5% |
14/104 |
| Small hand |
11.5% |
12/104 |
| Hip dysplasia |
9.6% |
10/104 |
| Slender finger |
9.6% |
10/104 |
| Pes planus |
8.7% |
9/104 |
| Delayed closure of the anterior fontanelle |
7.7% |
8/104 |
| Gait disturbance |
7.7% |
8/104 |
| Mild short stature |
7.7% |
8/104 |
| Tapered finger |
6.7% |
7/104 |
| Broad toe |
5.8% |
6/104 |
| Large fontanelles |
5.8% |
6/104 |
| Neonatal hypotonia |
5.8% |
6/104 |
| Clinodactyly |
4.8% |
5/104 |
| Generalized hypotonia |
4.8% |
5/104 |
| Slender build |
4.8% |
5/104 |
| Achilles tendon contracture |
3.8% |
4/104 |
| Broad forehead |
3.8% |
4/104 |
| Clinodactyly of the 5th finger |
3.8% |
4/104 |
| Sacral dimple |
3.8% |
4/104 |
| Torticollis |
3.8% |
4/104 |
| 2-3 toe syndactyly |
3.8% |
4/104 |
| Acetabular dysplasia |
2.9% |
3/104 |
| Axial hypotonia |
2.9% |
3/104 |
| Barrel-shaped chest |
2.9% |
3/104 |
| Inability to walk |
2.9% |
3/104 |
| Joint hypermobility |
2.9% |
3/104 |
| Plagiocephaly |
2.9% |
3/104 |
| Postnatal growth retardation |
2.9% |
3/104 |
| Prominent forehead |
2.9% |
3/104 |
| Abnormal muscle tone |
1.9% |
2/104 |
| Abnormal fontanelle morphology |
1.9% |
2/104 |
| Abnormal long bone morphology |
1.9% |
2/104 |
| Abnormal hip joint morphology |
1.9% |
2/104 |
| Abnormal cranial suture/fontanelle morphology |
1.9% |
2/104 |
| Absent palmar crease |
1.9% |
2/104 |
| Appendicular hypotonia |
1.9% |
2/104 |
| Bilateral talipes equinovarus |
1.9% |
2/104 |
| Broad distal phalanx of the toes |
1.9% |
2/104 |
| Clubbing of toes |
1.9% |
2/104 |
| Craniosynostosis |
1.9% |
2/104 |
| Cutis marmorata |
1.9% |
2/104 |
| Floppy infant |
1.9% |
2/104 |
| Full cheeks |
1.9% |
2/104 |
| Hyperextensibility of the finger joints |
1.9% |
2/104 |
| Increased femoral anteversion |
1.9% |
2/104 |
| Kyphosis |
1.9% |
2/104 |
| Limb hypertonia |
1.9% |
2/104 |
| Lumbar kyphosis |
1.9% |
2/104 |
| Narrow foot |
1.9% |
2/104 |
| Overlapping toe |
1.9% |
2/104 |
| Pectus carinatum |
1.9% |
2/104 |
| Prominent fingertip pads |
1.9% |
2/104 |
| Sandal gap |
1.9% |
2/104 |
| Short toe |
1.9% |
2/104 |
| Short chin |
1.9% |
2/104 |
| Single transverse palmar crease |
1.9% |
2/104 |
| Small finger |
1.9% |
2/104 |
| Supernumerary ribs |
1.9% |
2/104 |
| Toe syndactyly |
1.9% |
2/104 |
| 2-4 finger cutaneous syndactyly |
1.9% |
2/104 |
| 3-4 finger osseus syndactyly |
1.9% |
2/104 |
| Abnormal fibula morphology |
1.0% |
1/104 |
| Abnormal thumb morphology |
1.0% |
1/104 |
| Abnormality of the musculature |
1.0% |
1/104 |
| Abnormal pelvic girdle bone morphology |
1.0% |
1/104 |
| Abnormal rib morphology |
1.0% |
1/104 |
| Abnormal number of vertebrae |
1.0% |
1/104 |
| Abnormal thorax morphology |
1.0% |
1/104 |
| Abnormality of the palmar creases |
1.0% |
1/104 |
| Abnormality of the cervical spine |
1.0% |
1/104 |
| Abnormal zygomatic arch morphology |
1.0% |
1/104 |
| Abnormal occipital bone morphology |
1.0% |
1/104 |
| Ankle clonus |
1.0% |
1/104 |
| Anterior beaking of lumbar vertebrae |
1.0% |
1/104 |
| Brachycephaly |
1.0% |
1/104 |
| Brisk reflexes |
1.0% |
1/104 |
| Broad-based gait |
1.0% |
1/104 |
| Broad distal phalanx of finger |
1.0% |
1/104 |
| Camptodactyly of finger |
1.0% |
1/104 |
| Camptodactyly |
1.0% |
1/104 |
| Childhood onset short-limb short stature |
1.0% |
1/104 |
| Clinodactyly of the 5th toe |
1.0% |
1/104 |
| Clinodactyly of the 2nd toe |
1.0% |
1/104 |
| Coxa valga |
1.0% |
1/104 |
| Deep palmar crease |
1.0% |
1/104 |
| Dolichocephaly |
1.0% |
1/104 |
| Dysharmonic delayed bone age |
1.0% |
1/104 |
| Dysphagia |
1.0% |
1/104 |
| Enlarged joints |
1.0% |
1/104 |
| Equinovarus deformity |
1.0% |
1/104 |
| Finger syndactyly |
1.0% |
1/104 |
| Frequent falls |
1.0% |
1/104 |
| Frontal bossing |
1.0% |
1/104 |
| Gait imbalance |
1.0% |
1/104 |
| Gait ataxia |
1.0% |
1/104 |
| Generalized neonatal hypotonia |
1.0% |
1/104 |
| Hallux varus |
1.0% |
1/104 |
| Hemihypertrophy |
1.0% |
1/104 |
| Hip dislocation |
1.0% |
1/104 |
| Hydrocephalus |
1.0% |
1/104 |
| Hyperactive deep tendon reflexes |
1.0% |
1/104 |
| Hyperreflexia |
1.0% |
1/104 |
| Hypoplastic fifth toenail |
1.0% |
1/104 |
| Hypoplastic nipples |
1.0% |
1/104 |
| Inguinal hernia |
1.0% |
1/104 |
| Lumbar scoliosis |
1.0% |
1/104 |
| Lumbar hyperlordosis |
1.0% |
1/104 |
| Macrocephaly |
1.0% |
1/104 |
| Marked delay in bone age |
1.0% |
1/104 |
| Medial rotation of the medial malleolus |
1.0% |
1/104 |
| Metatarsus valgus |
1.0% |
1/104 |
| Metopic synostosis |
1.0% |
1/104 |
| Mild microcephaly |
1.0% |
1/104 |
| Mild postnatal growth retardation |
1.0% |
1/104 |
| Multiple joint contractures |
1.0% |
1/104 |
| Muscle stiffness |
1.0% |
1/104 |
| Myoclonus |
1.0% |
1/104 |
| Neonatal respiratory distress |
1.0% |
1/104 |
| Osteopenia |
1.0% |
1/104 |
| Pectus excavatum of inferior sternum |
1.0% |
1/104 |
| Pes cavus |
1.0% |
1/104 |
| Radial deviation of thumb terminal phalanx |
1.0% |
1/104 |
| Retrognathia |
1.0% |
1/104 |
| Rhizo-meso-acromelic limb shortening |
1.0% |
1/104 |
| Scapular winging |
1.0% |
1/104 |
| Severe short-limb dwarfism |
1.0% |
1/104 |
| Short neck |
1.0% |
1/104 |
| Short finger |
1.0% |
1/104 |
| Short lower limbs |
1.0% |
1/104 |
| Small toe |
1.0% |
1/104 |
| Spastic paraplegia |
1.0% |
1/104 |
| Spina bifida occulta |
1.0% |
1/104 |
| Superior pectus carinatum |
1.0% |
1/104 |
| Talipes |
1.0% |
1/104 |
| Talipes equinovarus |
1.0% |
1/104 |
| Thoracic kyphosis |
1.0% |
1/104 |
| Thoracolumbar kyphoscoliosis |
1.0% |
1/104 |
| Vertebral compression fracture |
1.0% |
1/104 |
| Widely spaced toes |
1.0% |
1/104 |
| Wormian bones |
1.0% |
1/104 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
78.0% |
71/91 |
| Mottled pigmentation |
28.6% |
26/91 |
| Hirsutism |
19.8% |
18/91 |
| Sparse anterior scalp hair |
11.0% |
10/91 |
| Eczematoid dermatitis |
9.9% |
9/91 |
| Coarse hair |
8.8% |
8/91 |
| Low anterior hairline |
5.5% |
5/91 |
| Prominent fingertip pads |
5.5% |
5/91 |
| Dry skin |
4.4% |
4/91 |
| Excessive wrinkled skin |
4.4% |
4/91 |
| Thin skin |
4.4% |
4/91 |
| Acne |
3.3% |
3/91 |
| Cutis marmorata |
2.2% |
2/91 |
| Hyperextensible skin |
2.2% |
2/91 |
| Thick hair |
2.2% |
2/91 |
| Abnormal elasticity of skin |
1.1% |
1/91 |
| Abnormal bleeding |
1.1% |
1/91 |
| Abnormal fingernail morphology |
1.1% |
1/91 |
| Abnormal hair whorl |
1.1% |
1/91 |
| Abnormality of the frontal hairline |
1.1% |
1/91 |
| Alopecia |
1.1% |
1/91 |
| Aplasia/Hypoplasia of the nipples |
1.1% |
1/91 |
| Atopic dermatitis |
1.1% |
1/91 |
| Auricular tag |
1.1% |
1/91 |
| Broad forehead |
1.1% |
1/91 |
| Bruising susceptibility |
1.1% |
1/91 |
| Cephalohematoma |
1.1% |
1/91 |
| Coarse facial features |
1.1% |
1/91 |
| Cutis laxa |
1.1% |
1/91 |
| Dry hair |
1.1% |
1/91 |
| Facial hirsutism |
1.1% |
1/91 |
| Facial hemangioma |
1.1% |
1/91 |
| Fair hair |
1.1% |
1/91 |
| Frontal hirsutism |
1.1% |
1/91 |
| Generalized hirsutism |
1.1% |
1/91 |
| Hypertrichosis |
1.1% |
1/91 |
| Hypoplastic toenails |
1.1% |
1/91 |
| Low posterior hairline |
1.1% |
1/91 |
| Nevus flammeus |
1.1% |
1/91 |
| Nevus |
1.1% |
1/91 |
| obsolete Eczematoid dermatitis |
1.1% |
1/91 |
| obsolete Decreased subcutaneous fat |
1.1% |
1/91 |
| Prominent nipples |
1.1% |
1/91 |
| Short foot |
1.1% |
1/91 |
| Single transverse palmar crease |
1.1% |
1/91 |
| Skin rash |
1.1% |
1/91 |
| Skin-picking |
1.1% |
1/91 |
| Slender build |
1.1% |
1/91 |
| Sparse scalp hair |
1.1% |
1/91 |
| Sparse hair |
1.1% |
1/91 |
| Sparse body hair |
1.1% |
1/91 |
| Supernumerary nipple |
1.1% |
1/91 |
| Telangiectases producing 'marbled' skin |
1.1% |
1/91 |
| 3-4 finger osseus syndactyly |
1.1% |
1/91 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
43.4% |
33/76 |
| Hirsutism |
17.1% |
13/76 |
| Precocious puberty |
5.3% |
4/76 |
| Precocious puberty in females |
3.9% |
3/76 |
| Decreased response to growth hormone stimulation test |
2.6% |
2/76 |
| Hypoglycemia |
2.6% |
2/76 |
| Premature thelarche |
2.6% |
2/76 |
| Abnormality of the pubic hair |
1.3% |
1/76 |
| Abnormal sweat homeostasis |
1.3% |
1/76 |
| Abnormality of temperature regulation |
1.3% |
1/76 |
| Adrenal gland agenesis |
1.3% |
1/76 |
| Adrenocortical abnormality |
1.3% |
1/76 |
| Bowel incontinence |
1.3% |
1/76 |
| Breast hypoplasia |
1.3% |
1/76 |
| Diabetes mellitus |
1.3% |
1/76 |
| Facial hirsutism |
1.3% |
1/76 |
| Fatigue |
1.3% |
1/76 |
| Frontal hirsutism |
1.3% |
1/76 |
| Graves disease |
1.3% |
1/76 |
| Hypercalcemia |
1.3% |
1/76 |
| Hyperinsulinemia |
1.3% |
1/76 |
| Increased serum testosterone level |
1.3% |
1/76 |
| Lactic acidosis |
1.3% |
1/76 |
| Menorrhagia |
1.3% |
1/76 |
| Neonatal hypoglycemia |
1.3% |
1/76 |
| Pituitary dwarfism |
1.3% |
1/76 |
| Premature adrenarche |
1.3% |
1/76 |
| Shield chest |
1.3% |
1/76 |
| Sleep disturbance |
1.3% |
1/76 |
| Urinary incontinence |
1.3% |
1/76 |
| Abnormality of the metabolic system |
91.0% |
81/89 |
| Abnormality of temperature regulation |
33.7% |
30/89 |
| Slender build |
28.1% |
25/89 |
| Sleep disturbance |
27.0% |
24/89 |
| Neonatal respiratory distress |
13.5% |
12/89 |
| Failure to thrive |
11.2% |
10/89 |
| Pneumonia |
11.2% |
10/89 |
| Absence of subcutaneous fat |
6.7% |
6/89 |
| Episodic fatigue |
6.7% |
6/89 |
| Apnea |
5.6% |
5/89 |
| Pica |
5.6% |
5/89 |
| Allergy |
4.5% |
4/89 |
| Asthma |
4.5% |
4/89 |
| Bowel incontinence |
4.5% |
4/89 |
| Bronchiolitis |
4.5% |
4/89 |
| Iron deficiency anemia |
4.5% |
4/89 |
| Sleep apnea |
4.5% |
4/89 |
| Dyspnea |
3.4% |
3/89 |
| Hypoglycemia |
3.4% |
3/89 |
| obsolete Decreased subcutaneous fat |
3.4% |
3/89 |
| Abnormal onset of bleeding |
2.2% |
2/89 |
| Abnormal pulmonary interstitial morphology |
2.2% |
2/89 |
| Abnormality of subcutaneous fat tissue |
2.2% |
2/89 |
| Breathing dysregulation |
2.2% |
2/89 |
| Bruising susceptibility |
2.2% |
2/89 |
| Chronic fatigue |
2.2% |
2/89 |
| Cyanosis |
2.2% |
2/89 |
| Cyanotic episode |
2.2% |
2/89 |
| Decreased body weight |
2.2% |
2/89 |
| Easy fatigability |
2.2% |
2/89 |
| Epistaxis |
2.2% |
2/89 |
| Failure to thrive in infancy |
2.2% |
2/89 |
| Fatigue |
2.2% |
2/89 |
| Hypertension |
2.2% |
2/89 |
| Hyperbilirubinemia |
2.2% |
2/89 |
| Intrauterine growth retardation |
2.2% |
2/89 |
| Neonatal hypoglycemia |
2.2% |
2/89 |
| Neonatal hyperbilirubinemia |
2.2% |
2/89 |
| Prolonged neonatal jaundice |
2.2% |
2/89 |
| Recurrent upper respiratory tract infections |
2.2% |
2/89 |
| Red desaturation |
2.2% |
2/89 |
| Respiratory failure requiring assisted ventilation |
2.2% |
2/89 |
| Tachypnea |
2.2% |
2/89 |
| Abnormal thrombosis |
1.1% |
1/89 |
| Abnormal sweat homeostasis |
1.1% |
1/89 |
| Abnormality of pain sensation |
1.1% |
1/89 |
| Abnormality of blood circulation |
1.1% |
1/89 |
| Abnormality of the spleen |
1.1% |
1/89 |
| Abnormality of vitamin D metabolism |
1.1% |
1/89 |
| Anemia |
1.1% |
1/89 |
| Ankle swelling |
1.1% |
1/89 |
| Aspiration |
1.1% |
1/89 |
| Aspiration pneumonia |
1.1% |
1/89 |
| Bleeding with minor or no trauma |
1.1% |
1/89 |
| Blood group antigen abnormality |
1.1% |
1/89 |
| Bronchomalacia |
1.1% |
1/89 |
| Cardiorespiratory arrest |
1.1% |
1/89 |
| Cellulitis |
1.1% |
1/89 |
| Cough |
1.1% |
1/89 |
| Death in infancy |
1.1% |
1/89 |
| Decreased circulating carnitine concentration |
1.1% |
1/89 |
| Duplication of renal pelvis |
1.1% |
1/89 |
| Edema |
1.1% |
1/89 |
| Elevated circulating alkaline phosphatase concentration |
1.1% |
1/89 |
| Episodic tachypnea |
1.1% |
1/89 |
| Growth delay |
1.1% |
1/89 |
| Hydronephrosis |
1.1% |
1/89 |
| Hypercalcemia |
1.1% |
1/89 |
| Hypercoagulability |
1.1% |
1/89 |
| Hypermagnesemia |
1.1% |
1/89 |
| Hypertriglyceridemia |
1.1% |
1/89 |
| Hyperinsulinemia |
1.1% |
1/89 |
| Hypernatremic dehydration |
1.1% |
1/89 |
| Hyperhidrosis |
1.1% |
1/89 |
| Hyperlipidemia |
1.1% |
1/89 |
| Hypoalbuminemia |
1.1% |
1/89 |
| Insomnia |
1.1% |
1/89 |
| Laryngotracheomalacia |
1.1% |
1/89 |
| Lethargy |
1.1% |
1/89 |
| Meconium stained amniotic fluid |
1.1% |
1/89 |
| Multiple lipomas |
1.1% |
1/89 |
| Neonatal breathing dysregulation |
1.1% |
1/89 |
| obsolete Decreased pulmonary function |
1.1% |
1/89 |
| obsolete Infantile hypercalcemia |
1.1% |
1/89 |
| Obstructive sleep apnea |
1.1% |
1/89 |
| Omphalocele |
1.1% |
1/89 |
| Pain insensitivity |
1.1% |
1/89 |
| Pleural lymphangiectasia |
1.1% |
1/89 |
| Postnatal growth retardation |
1.1% |
1/89 |
| Prolonged bleeding following procedure |
1.1% |
1/89 |
| Pulmonary arterial hypertension |
1.1% |
1/89 |
| Pulmonary fibrosis |
1.1% |
1/89 |
| Pulmonary lymphangiectasia |
1.1% |
1/89 |
| Pulmonary hypoplasia |
1.1% |
1/89 |
| Recurrent fever |
1.1% |
1/89 |
| Recurrent respiratory infections |
1.1% |
1/89 |
| Recurrent aspiration pneumonia |
1.1% |
1/89 |
| Recurrent infections |
1.1% |
1/89 |
| Respiratory arrest |
1.1% |
1/89 |
| Severe failure to thrive |
1.1% |
1/89 |
| Slender finger |
1.1% |
1/89 |
| Small for gestational age |
1.1% |
1/89 |
| Stridor |
1.1% |
1/89 |
| Tracheobronchomalacia |
1.1% |
1/89 |
| Type II diabetes mellitus |
1.1% |
1/89 |
| Abnormality of the immune system |
30.8% |
20/65 |
| Allergy |
12.3% |
8/65 |
| Cow milk allergy |
7.7% |
5/65 |
| Recurrent respiratory infections |
4.6% |
3/65 |
| Recurrent infections |
3.1% |
2/65 |
| Apnea |
1.5% |
1/65 |
| Chronic otitis media |
1.5% |
1/65 |
| Decreased total leukocyte count |
1.5% |
1/65 |
| Easy fatigability |
1.5% |
1/65 |
| Food intolerance |
1.5% |
1/65 |
| Neonatal sepsis |
1.5% |
1/65 |
| Otitis media |
1.5% |
1/65 |
| Recurrent otitis media |
1.5% |
1/65 |
| Recurrent pneumonia |
1.5% |
1/65 |
| Unexplained fevers |
1.5% |
1/65 |
| Velopharyngeal insufficiency |
1.5% |
1/65 |
| Neoplasia |
|
|
| Neoplasia |
2.8% |
3/107 |
| Abnormal mediastinum morphology |
0.9% |
1/107 |
| Brain neoplasm |
0.9% |
1/107 |
| Leukemia |
0.9% |
1/107 |
| Medulloblastoma |
0.9% |
1/107 |