ARID1B
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 53.3% | 145/272 |
| Female | 46.7% | 127/272 |
| Indifferent | 0% | 0/272 |
| Unknown | 0% | 0/272 |
| General | ||
| Motor delay | 97.8% | 224/229 |
| Motor delay | 1.7% | 4/229 |
| Abnormal renal morphology | 0.4% | 1/229 |
| Bilateral cryptorchidism | 0.4% | 1/229 |
| Hydronephrosis | 0.4% | 1/229 |
| Speech delay | 97.6% | 246/252 |
| Delayed speech and language development | 1.6% | 4/252 |
| Intellectual disabillity | 97.6% | 244/250 |
| Intellectual disability | 2.0% | 5/250 |
| Abnormal renal morphology | 0.4% | 1/250 |
| Bilateral cryptorchidism | 0.4% | 1/250 |
| Hydronephrosis | 0.4% | 1/250 |
| Neurology | ||
| Neurological abnormalities | 85.6% | 208/243 |
| Muscular hypotonia | 32.1% | 78/243 |
| Generalized hypotonia | 17.3% | 42/243 |
| Seizures | 15.6% | 38/243 |
| Generalized tonic-clonic seizures | 7.8% | 19/243 |
| Impaired pain sensation | 7.4% | 18/243 |
| Neonatal hypotonia | 7.4% | 18/243 |
| Febrile seizures | 4.5% | 11/243 |
| Absence seizures | 4.1% | 10/243 |
| Developmental regression | 3.7% | 9/243 |
| EEG abnormality | 3.7% | 9/243 |
| Astereognosia | 3.3% | 8/243 |
| Central hypotonia | 3.3% | 8/243 |
| Impaired visuospatial constructive cognition | 3.3% | 8/243 |
| Visual agnosia | 3.3% | 8/243 |
| Focal seizures with impairment of consciousness or awareness | 2.9% | 7/243 |
| Gait ataxia | 2.5% | 6/243 |
| Abnormality of the nervous system | 2.1% | 5/243 |
| Abnormality of pain sensation | 2.1% | 5/243 |
| Generalized tonic seizures | 2.1% | 5/243 |
| Hypertonia | 1.6% | 4/243 |
| Motor delay | 1.6% | 4/243 |
| Atonic seizures | 1.2% | 3/243 |
| Hyperreflexia | 1.2% | 3/243 |
| Abnormality of nervous system physiology | 0.8% | 2/243 |
| Broad-based gait | 0.8% | 2/243 |
| Colpocephaly | 0.8% | 2/243 |
| Delayed myelination | 0.8% | 2/243 |
| Focal seizures without impairment of consciousness or awareness | 0.8% | 2/243 |
| Focal seizures | 0.8% | 2/243 |
| Gait disturbance | 0.8% | 2/243 |
| Generalized seizures | 0.8% | 2/243 |
| Generalized myoclonic seizures | 0.8% | 2/243 |
| Headache | 0.8% | 2/243 |
| Lower limb hyperreflexia | 0.8% | 2/243 |
| Lower limb hypertonia | 0.8% | 2/243 |
| Muscular hypotonia of the trunk | 0.8% | 2/243 |
| Poor fine motor coordination | 0.8% | 2/243 |
| Unsteady gait | 0.8% | 2/243 |
| Upper limb hypertonia | 0.8% | 2/243 |
| Abnormality of the subarachnoid space | 0.4% | 1/243 |
| Abnormality of the corpus callosum | 0.4% | 1/243 |
| Agenesis of corpus callosum | 0.4% | 1/243 |
| Anomia | 0.4% | 1/243 |
| Ataxia | 0.4% | 1/243 |
| Cerebral palsy | 0.4% | 1/243 |
| Dysarthria | 0.4% | 1/243 |
| Dysdiadochokinesis | 0.4% | 1/243 |
| Dyskinesia | 0.4% | 1/243 |
| Dysmetria | 0.4% | 1/243 |
| Dysplastic corpus callosum | 0.4% | 1/243 |
| Dystonia | 0.4% | 1/243 |
| Exercise intolerance | 0.4% | 1/243 |
| Gait imbalance | 0.4% | 1/243 |
| Gait apraxia | 0.4% | 1/243 |
| Global developmental delay | 0.4% | 1/243 |
| Hand tremor | 0.4% | 1/243 |
| Infantile axial hypotonia | 0.4% | 1/243 |
| Infantile muscular hypotonia | 0.4% | 1/243 |
| Intellectual disability, borderline | 0.4% | 1/243 |
| Muscle weakness | 0.4% | 1/243 |
| Myoclonus | 0.4% | 1/243 |
| Oromandibular dystonia | 0.4% | 1/243 |
| Partial agenesis of the corpus callosum | 0.4% | 1/243 |
| Poor gross motor coordination | 0.4% | 1/243 |
| Posterior fossa cyst | 0.4% | 1/243 |
| Postural instability | 0.4% | 1/243 |
| Sensory impairment | 0.4% | 1/243 |
| Torticollis | 0.4% | 1/243 |
| Widened subarachnoid space | 0.4% | 1/243 |
| Behavioral problems | 71.1% | 155/218 |
| Autistic behavior | 30.3% | 66/218 |
| Hyperactivity | 20.6% | 45/218 |
| Attention deficit hyperactivity disorder | 14.7% | 32/218 |
| Short attention span | 12.4% | 27/218 |
| Autism | 11.5% | 25/218 |
| Impaired social interactions | 7.8% | 17/218 |
| Abnormal fear/anxiety-related behavior | 6.9% | 15/218 |
| Aggressive behavior | 6.9% | 15/218 |
| Stereotypic behavior | 6.9% | 15/218 |
| Obsessive-compulsive behavior | 6.0% | 13/218 |
| Abnormal social behavior | 5.0% | 11/218 |
| Impulsivity | 5.0% | 11/218 |
| Hyperkinesis | 4.6% | 10/218 |
| Anxiety | 4.1% | 9/218 |
| Behavioral abnormality | 3.2% | 7/218 |
| Impaired social reciprocity | 2.8% | 6/218 |
| Obsessive-compulsive trait | 2.8% | 6/218 |
| Abnormal aggressive, impulsive or violent behavior | 1.8% | 4/218 |
| Self-injurious behavior | 1.8% | 4/218 |
| Abnormal emotion/affect behavior | 1.4% | 3/218 |
| Drooling | 1.4% | 3/218 |
| Absent speech | 0.9% | 2/218 |
| Emotional lability | 0.9% | 2/218 |
| Hyperacusis | 0.9% | 2/218 |
| Inflexible adherence to routines or rituals | 0.9% | 2/218 |
| Oral aversion | 0.9% | 2/218 |
| Poor eye contact | 0.9% | 2/218 |
| Sleep disturbance | 0.9% | 2/218 |
| Abnormality of nervous system physiology | 0.5% | 1/218 |
| Agoraphobia | 0.5% | 1/218 |
| Clumsiness | 0.5% | 1/218 |
| Developmental regression | 0.5% | 1/218 |
| Facial tics | 0.5% | 1/218 |
| Hair-pulling | 0.5% | 1/218 |
| Happy demeanor | 0.5% | 1/218 |
| Head-banging | 0.5% | 1/218 |
| Impaired ability to form peer relationships | 0.5% | 1/218 |
| Impaired pain sensation | 0.5% | 1/218 |
| Lack of insight | 0.5% | 1/218 |
| Nail-biting | 0.5% | 1/218 |
| Overfriendliness | 0.5% | 1/218 |
| Personality disorder | 0.5% | 1/218 |
| Phonophobia | 0.5% | 1/218 |
| Repetitive compulsive behavior | 0.5% | 1/218 |
| Restlessness | 0.5% | 1/218 |
| Restrictive behavior | 0.5% | 1/218 |
| Rigidity | 0.5% | 1/218 |
| Self-mutilation | 0.5% | 1/218 |
| Shyness | 0.5% | 1/218 |
| Violent behavior | 0.5% | 1/218 |
| Brain abnormality | 71.1% | 143/201 |
| Agenesis of corpus callosum | 19.4% | 39/201 |
| Partial agenesis of the corpus callosum | 10.4% | 21/201 |
| Hypoplasia of the corpus callosum | 8.0% | 16/201 |
| Delayed myelination | 6.5% | 13/201 |
| Colpocephaly | 5.5% | 11/201 |
| Aplasia/Hypoplasia of the corpus callosum | 5.0% | 10/201 |
| Enlarged cisterna magna | 5.0% | 10/201 |
| Short corpus callosum | 3.5% | 7/201 |
| Thick corpus callosum | 3.5% | 7/201 |
| Abnormality of the corpus callosum | 3.0% | 6/201 |
| Cerebellar cyst | 3.0% | 6/201 |
| Dysplastic corpus callosum | 3.0% | 6/201 |
| Retrocerebellar cyst | 3.0% | 6/201 |
| Ventriculomegaly | 3.0% | 6/201 |
| Arachnoid cyst | 2.5% | 5/201 |
| Intracranial cystic lesion | 2.5% | 5/201 |
| Arnold-Chiari type I malformation | 2.0% | 4/201 |
| Cerebellar hypoplasia | 1.5% | 3/201 |
| Cortical dysplasia | 1.5% | 3/201 |
| Heterotopia | 1.5% | 3/201 |
| Abnormal basal ganglia MRI signal intensity | 1.0% | 2/201 |
| Abnormality of forebrain morphology | 1.0% | 2/201 |
| Abnormality of lateral ventricle | 1.0% | 2/201 |
| Absent septum pellucidum | 1.0% | 2/201 |
| Aplasia/Hypoplasia of the cerebrum | 1.0% | 2/201 |
| Attention deficit hyperactivity disorder | 1.0% | 2/201 |
| Cerebral atrophy | 1.0% | 2/201 |
| Cerebral hypoplasia | 1.0% | 2/201 |
| Choroid plexus cyst | 1.0% | 2/201 |
| Hydrocephalus | 1.0% | 2/201 |
| Lambdoidal craniosynostosis | 1.0% | 2/201 |
| Perivascular spaces | 1.0% | 2/201 |
| Sagittal craniosynostosis | 1.0% | 2/201 |
| Abnormality of the cerebellum | 0.5% | 1/201 |
| Abnormal thalamic MRI signal intensity | 0.5% | 1/201 |
| Abnormality of the cerebral ventricles | 0.5% | 1/201 |
| Abnormality of corpus cavernosum | 0.5% | 1/201 |
| Abnormality of neuronal migration | 0.5% | 1/201 |
| Abnormality of cerebral veins | 0.5% | 1/201 |
| Abnormality of the optic nerve | 0.5% | 1/201 |
| Abnormality of midbrain morphology | 0.5% | 1/201 |
| Abnormality of the periventricular white matter | 0.5% | 1/201 |
| Abnormality of the pons | 0.5% | 1/201 |
| Abnormal brainstem MRI signal intensity | 0.5% | 1/201 |
| Abnormality of the cerebral white matter | 0.5% | 1/201 |
| Abnormality of the choroid | 0.5% | 1/201 |
| Abnormality of the cerebral cortex | 0.5% | 1/201 |
| Abnormal cortical gyration | 0.5% | 1/201 |
| Abnormal length of corpus callosum | 0.5% | 1/201 |
| Aplasia/Hypoplasia involving the central nervous system | 0.5% | 1/201 |
| Asymmetric ventricles | 0.5% | 1/201 |
| Bilateral intracranial calcifications | 0.5% | 1/201 |
| Brain atrophy | 0.5% | 1/201 |
| Cavum septum pellucidum | 0.5% | 1/201 |
| Cerebellar agenesis | 0.5% | 1/201 |
| Cerebellar dysplasia | 0.5% | 1/201 |
| Dandy-Walker malformation | 0.5% | 1/201 |
| Delayed CNS myelination | 0.5% | 1/201 |
| Dilation of lateral ventricles | 0.5% | 1/201 |
| Encephalopathy | 0.5% | 1/201 |
| Enlarged fetal cisterna magna | 0.5% | 1/201 |
| Hypodysplasia of the corpus callosum | 0.5% | 1/201 |
| Hypoplasia of the brainstem | 0.5% | 1/201 |
| Hypoplastic olfactory lobes | 0.5% | 1/201 |
| Hypoplasia of the pons | 0.5% | 1/201 |
| Limbic malformations | 0.5% | 1/201 |
| Microcephaly | 0.5% | 1/201 |
| Midline central nervous system lipomas | 0.5% | 1/201 |
| Multiple suture craniosynostosis | 0.5% | 1/201 |
| Neonatal hypotonia | 0.5% | 1/201 |
| Neoplasm of the central nervous system | 0.5% | 1/201 |
| Pachygyria | 0.5% | 1/201 |
| Polymicrogyria | 0.5% | 1/201 |
| Prominent supraorbital ridges | 0.5% | 1/201 |
| Relative macrocephaly | 0.5% | 1/201 |
| Seizures | 0.5% | 1/201 |
| Subarachnoid hemorrhage | 0.5% | 1/201 |
| Syringomyelia | 0.5% | 1/201 |
| Talipes calcaneovarus | 0.5% | 1/201 |
| Facial abnormalities | ||
| Abnormality of the ear | 61.3% | 146/238 |
| Low-set ears | 13.9% | 33/238 |
| Abnormality of the pinna | 8.8% | 21/238 |
| Low-set, posteriorly rotated ears | 8.4% | 20/238 |
| Abnormality of the ear | 5.9% | 14/238 |
| Protruding ear | 5.5% | 13/238 |
| Posteriorly rotated ears | 5.0% | 12/238 |
| Macrotia | 4.2% | 10/238 |
| Abnormality of the outer ear | 3.8% | 9/238 |
| Uplifted earlobe | 3.4% | 8/238 |
| External ear malformation | 2.5% | 6/238 |
| Overfolded helix | 2.1% | 5/238 |
| Preauricular pit | 2.1% | 5/238 |
| Cupped ear | 1.7% | 4/238 |
| Forward facing earlobe | 1.3% | 3/238 |
| Small earlobe | 1.3% | 3/238 |
| Underdeveloped superior crus of antihelix | 1.3% | 3/238 |
| Abnormal location of ears | 0.8% | 2/238 |
| Abnormality of earlobe | 0.8% | 2/238 |
| Cholesteatoma | 0.8% | 2/238 |
| Thickened helices | 0.8% | 2/238 |
| Abnormality of periauricular region | 0.4% | 1/238 |
| Absent earlobe | 0.4% | 1/238 |
| Asymmetry of the ears | 0.4% | 1/238 |
| Cleft helix | 0.4% | 1/238 |
| Darwin tubercle of helix | 0.4% | 1/238 |
| Large earlobe | 0.4% | 1/238 |
| Long ear | 0.4% | 1/238 |
| Long eyelashes | 0.4% | 1/238 |
| Microtia | 0.4% | 1/238 |
| Mild hearing impairment | 0.4% | 1/238 |
| Periauricular skin pits | 0.4% | 1/238 |
| Prominent ear helix | 0.4% | 1/238 |
| Prominent crus of helix | 0.4% | 1/238 |
| Recurrent infections of the middle ear | 0.4% | 1/238 |
| Recurrent otitis media | 0.4% | 1/238 |
| Satyr ear | 0.4% | 1/238 |
| Thick eyebrow | 0.4% | 1/238 |
| Underdeveloped nasal alae | 0.4% | 1/238 |
| Abnormality of the eye | 86.5% | 212/245 |
| Thick eyebrow | 56.3% | 138/245 |
| Long eyelashes | 46.5% | 114/245 |
| Downslanted palpebral fissures | 15.1% | 37/245 |
| Synophrys | 7.8% | 19/245 |
| Ptosis | 7.3% | 18/245 |
| Periorbital wrinkles | 6.9% | 17/245 |
| Epicanthus | 5.7% | 14/245 |
| Hypertelorism | 5.7% | 14/245 |
| Upslanted palpebral fissure | 5.7% | 14/245 |
| Abnormality of the lacrimal duct | 4.1% | 10/245 |
| Long palpebral fissure | 4.1% | 10/245 |
| Bilateral ptosis | 3.3% | 8/245 |
| Strabismus | 3.3% | 8/245 |
| Prominent eyelashes | 2.9% | 7/245 |
| Highly arched eyebrow | 2.4% | 6/245 |
| Small palpebral fissure | 2.4% | 6/245 |
| Unilateral ptosis | 2.4% | 6/245 |
| Facial wrinkling | 2.0% | 5/245 |
| Short palpebral fissure | 1.6% | 4/245 |
| Proptosis | 1.2% | 3/245 |
| Abnormality of the nasolacrimal system | 0.8% | 2/245 |
| Abnormality of the eye | 0.8% | 2/245 |
| Abnormality of the periorbital region | 0.8% | 2/245 |
| Decreased lacrimation | 0.8% | 2/245 |
| Esotropia | 0.8% | 2/245 |
| Horizontal nystagmus | 0.8% | 2/245 |
| Nasolacrimal duct obstruction | 0.8% | 2/245 |
| Abnormality of the eyelashes | 0.4% | 1/245 |
| Blue sclerae | 0.4% | 1/245 |
| Broad forehead | 0.4% | 1/245 |
| Congenital ptosis | 0.4% | 1/245 |
| Deeply set eye | 0.4% | 1/245 |
| Excessive wrinkled skin | 0.4% | 1/245 |
| Exotropia | 0.4% | 1/245 |
| High forehead | 0.4% | 1/245 |
| Lacrimal duct stenosis | 0.4% | 1/245 |
| Lisch nodules | 0.4% | 1/245 |
| Long eyebrows | 0.4% | 1/245 |
| Lower eyelid edema | 0.4% | 1/245 |
| Medial flaring of the eyebrow | 0.4% | 1/245 |
| Muscular hypotonia of the trunk | 0.4% | 1/245 |
| Periorbital fullness | 0.4% | 1/245 |
| Prominent epicanthal folds | 0.4% | 1/245 |
| Redundant skin | 0.4% | 1/245 |
| Short eyelashes | 0.4% | 1/245 |
| Sparse eyebrow | 0.4% | 1/245 |
| Telecanthus | 0.4% | 1/245 |
| Unilateral narrow palpebral fissure | 0.4% | 1/245 |
| Abnormality of the nose | 78.5% | 190/242 |
| Broad nasal tip | 40.5% | 98/242 |
| Thick nasal alae | 27.3% | 66/242 |
| Wide nasal bridge | 23.1% | 56/242 |
| Wide nasal base | 18.2% | 44/242 |
| Anteverted nares | 17.4% | 42/242 |
| Short nose | 12.4% | 30/242 |
| Depressed nasal bridge | 11.6% | 28/242 |
| Long nose | 7.9% | 19/242 |
| Bulbous nose | 4.1% | 10/242 |
| Wide nose | 4.1% | 10/242 |
| Prominent nasal tip | 3.3% | 8/242 |
| Prominent nasal bridge | 2.1% | 5/242 |
| Abnormality of the columella | 1.7% | 4/242 |
| Abnormality of the nose | 1.2% | 3/242 |
| Long philtrum | 1.2% | 3/242 |
| Narrow nasal tip | 1.2% | 3/242 |
| Narrow nasal bridge | 0.8% | 2/242 |
| Thick lower lip vermilion | 0.8% | 2/242 |
| Abnormality of the nasal alae | 0.4% | 1/242 |
| Abnormal nasal morphology | 0.4% | 1/242 |
| Abnormality of the nasal bridge | 0.4% | 1/242 |
| Abnormality of the nasal tip | 0.4% | 1/242 |
| Broad philtrum | 0.4% | 1/242 |
| Choanal atresia | 0.4% | 1/242 |
| Flat nasal alae | 0.4% | 1/242 |
| Hypodontia | 0.4% | 1/242 |
| Low hanging columella | 0.4% | 1/242 |
| Narrow nasal base | 0.4% | 1/242 |
| Nasal obstruction | 0.4% | 1/242 |
| Nasal polyposis | 0.4% | 1/242 |
| Papule | 0.4% | 1/242 |
| Prominent nose | 0.4% | 1/242 |
| Retrognathia | 0.4% | 1/242 |
| Short philtrum | 0.4% | 1/242 |
| Thick upper lip vermilion | 0.4% | 1/242 |
| Thick vermilion border | 0.4% | 1/242 |
| Thin lower lip vermilion | 0.4% | 1/242 |
| Thin upper lip vermilion | 0.4% | 1/242 |
| Underdeveloped nasal alae | 0.4% | 1/242 |
| Abnormality of the mouth | 92.7% | 229/247 |
| Wide mouth | 50.6% | 125/247 |
| Thick lower lip vermilion | 49.0% | 121/247 |
| Thin upper lip vermilion | 27.9% | 69/247 |
| Long philtrum | 23.1% | 57/247 |
| Thick upper lip vermilion | 20.6% | 51/247 |
| Everted lower lip vermilion | 20.2% | 50/247 |
| Broad philtrum | 15.4% | 38/247 |
| Short philtrum | 13.4% | 33/247 |
| Widely spaced teeth | 13.0% | 32/247 |
| Delayed eruption of primary teeth | 12.1% | 30/247 |
| High palate | 11.7% | 29/247 |
| Delayed eruption of permanent teeth | 7.7% | 19/247 |
| Cleft palate | 4.9% | 12/247 |
| Gingival overgrowth | 4.5% | 11/247 |
| Macroglossia | 4.5% | 11/247 |
| Micrognathia | 4.0% | 10/247 |
| Hypodontia | 3.2% | 8/247 |
| Bifid uvula | 2.0% | 5/247 |
| Coarse facial features | 2.0% | 5/247 |
| Open mouth | 2.0% | 5/247 |
| Abnormality of the mouth | 1.6% | 4/247 |
| Microdontia | 1.6% | 4/247 |
| Retrognathia | 1.6% | 4/247 |
| Abnormality of the philtrum | 1.2% | 3/247 |
| Irregular dentition | 1.2% | 3/247 |
| Narrow mouth | 1.2% | 3/247 |
| Thin lower lip vermilion | 1.2% | 3/247 |
| Abnormality of the teeth | 0.8% | 2/247 |
| Abnormality of dental enamel | 0.8% | 2/247 |
| Abnormality of the palate | 0.8% | 2/247 |
| Ankyloglossia | 0.8% | 2/247 |
| Carious teeth | 0.8% | 2/247 |
| Dental malocclusion | 0.8% | 2/247 |
| High, narrow palate | 0.8% | 2/247 |
| Mandibular prognathia | 0.8% | 2/247 |
| Misalignment of teeth | 0.8% | 2/247 |
| Protruding tongue | 0.8% | 2/247 |
| Abnormality of mouth size | 0.4% | 1/247 |
| Abnormality of the tongue | 0.4% | 1/247 |
| Abnormality of the gingiva | 0.4% | 1/247 |
| Absent speech | 0.4% | 1/247 |
| Advanced eruption of teeth | 0.4% | 1/247 |
| Cleft soft palate | 0.4% | 1/247 |
| Conical tooth | 0.4% | 1/247 |
| Delayed eruption of teeth | 0.4% | 1/247 |
| Downturned corners of mouth | 0.4% | 1/247 |
| Everted upper lip vermilion | 0.4% | 1/247 |
| Excessive salivation | 0.4% | 1/247 |
| Growth delay | 0.4% | 1/247 |
| Hypoplasia of the primary teeth | 0.4% | 1/247 |
| Hypoplasia of teeth | 0.4% | 1/247 |
| Overbite | 0.4% | 1/247 |
| Pes planus | 0.4% | 1/247 |
| Prominent palatine ridges | 0.4% | 1/247 |
| Short chin | 0.4% | 1/247 |
| Small, conical teeth | 0.4% | 1/247 |
| Smooth philtrum | 0.4% | 1/247 |
| Submucous cleft lip | 0.4% | 1/247 |
| Submucous cleft soft palate | 0.4% | 1/247 |
| Thick vermilion border | 0.4% | 1/247 |
| Widely spaced primary teeth | 0.4% | 1/247 |
| Widely-spaced incisors | 0.4% | 1/247 |
| Visual and hearing impairments | ||
| Abnormal hearing | 28.1% | 66/235 |
| Hearing impairment | 11.9% | 28/235 |
| Glue ear | 5.5% | 13/235 |
| Conductive hearing impairment | 3.8% | 9/235 |
| Bilateral conductive hearing impairment | 1.3% | 3/235 |
| Bilateral sensorineural hearing impairment | 1.3% | 3/235 |
| Moderate sensorineural hearing impairment | 1.3% | 3/235 |
| Sensorineural hearing impairment | 1.3% | 3/235 |
| Severe sensorineural hearing impairment | 1.3% | 3/235 |
| Mild conductive hearing impairment | 0.9% | 2/235 |
| Mild hearing impairment | 0.9% | 2/235 |
| Abnormality of the tympanic membrane | 0.4% | 1/235 |
| Abnormality of the middle ear | 0.4% | 1/235 |
| Hearing abnormality | 0.4% | 1/235 |
| Hyperacusis | 0.4% | 1/235 |
| Mixed hearing impairment | 0.4% | 1/235 |
| Moderate conductive hearing impairment | 0.4% | 1/235 |
| Otitis media | 0.4% | 1/235 |
| Progressive sensorineural hearing impairment | 0.4% | 1/235 |
| Recurrent otitis media | 0.4% | 1/235 |
| Severe hearing impairment | 0.4% | 1/235 |
| Unilateral | 0.4% | 1/235 |
| Abnormal vision | 54.5% | 120/220 |
| Myopia | 21.4% | 47/220 |
| Strabismus | 12.3% | 27/220 |
| Hypermetropia | 7.7% | 17/220 |
| Astigmatism | 7.3% | 16/220 |
| Visual impairment | 6.8% | 15/220 |
| Severe Myopia | 5.5% | 12/220 |
| Nystagmus | 3.6% | 8/220 |
| Abnormality of refraction | 3.2% | 7/220 |
| Exotropia | 2.3% | 5/220 |
| Unilateral strabismus | 1.4% | 3/220 |
| Abnormality of vision | 0.9% | 2/220 |
| Amblyopia | 0.9% | 2/220 |
| Glaucoma | 0.9% | 2/220 |
| Optic nerve hypoplasia | 0.9% | 2/220 |
| Abnormality of the optic disc | 0.5% | 1/220 |
| Blurred vision | 0.5% | 1/220 |
| Cataract | 0.5% | 1/220 |
| Coloboma | 0.5% | 1/220 |
| Congenital cataract | 0.5% | 1/220 |
| Corneal ulceration | 0.5% | 1/220 |
| Cortical visual impairment | 0.5% | 1/220 |
| Esotropia | 0.5% | 1/220 |
| Increased intraocular pressure | 0.5% | 1/220 |
| Keratoconus | 0.5% | 1/220 |
| Lattice corneal dystrophy | 0.5% | 1/220 |
| Optic nerve coloboma | 0.5% | 1/220 |
| Peripapillary chorioretinal atrophy | 0.5% | 1/220 |
| Heart | ||
| Abnormality of the heart | 25.3% | 55/217 |
| Atria septal defect | 8.3% | 18/217 |
| Ventricular septal defect | 4.1% | 9/217 |
| Patent foramen ovale | 3.2% | 7/217 |
| Abnormality of the aortic valve | 1.4% | 3/217 |
| Heart murmur | 1.4% | 3/217 |
| Mitral regurgitation | 1.4% | 3/217 |
| Abnormality of the atrial septum | 0.9% | 2/217 |
| Abnormal heart morphology | 0.9% | 2/217 |
| Abnormality of the aortic arch | 0.9% | 2/217 |
| Bicuspid aortic valve | 0.9% | 2/217 |
| Coarctation of aorta | 0.9% | 2/217 |
| Patent ductus arteriosus | 0.9% | 2/217 |
| Secundum atrial septal defect | 0.9% | 2/217 |
| Abnormality of the vasculature | 0.5% | 1/217 |
| Abnormality of the vena cava | 0.5% | 1/217 |
| Abnormality of the left ventricle | 0.5% | 1/217 |
| Abnormality of the cardiac septa | 0.5% | 1/217 |
| Abnormality of the pulmonary artery | 0.5% | 1/217 |
| Abnormality of the tricuspid valve | 0.5% | 1/217 |
| Arrhythmia | 0.5% | 1/217 |
| Atrioventricular block | 0.5% | 1/217 |
| Atrioventricular canal defect | 0.5% | 1/217 |
| Bradycardia | 0.5% | 1/217 |
| Congestive heart failure | 0.5% | 1/217 |
| Cyanosis | 0.5% | 1/217 |
| Dilated cardiomyopathy | 0.5% | 1/217 |
| Hypoplastic left heart | 0.5% | 1/217 |
| Hypoxemia | 0.5% | 1/217 |
| Impaired left ventricular function | 0.5% | 1/217 |
| Left-to-right shunt | 0.5% | 1/217 |
| Non-restrictive ventricular septal defect | 0.5% | 1/217 |
| Primum atrial septal defect | 0.5% | 1/217 |
| Pulmonic stenosis | 0.5% | 1/217 |
| Right ventricular dilatation | 0.5% | 1/217 |
| Supraventricular arrhythmia | 0.5% | 1/217 |
| Ventricular extrasystoles | 0.5% | 1/217 |
| Pulmonary | ||
| Abnormality of the lungs | 26.2% | 11/42 |
| Asthma | 7.1% | 3/42 |
| Recurrent upper respiratory tract infections | 7.1% | 3/42 |
| Chronic obstructive pulmonary disease | 2.4% | 1/42 |
| Laryngomalacia | 2.4% | 1/42 |
| Laryngotracheomalacia | 2.4% | 1/42 |
| Neonatal respiratory distress | 2.4% | 1/42 |
| Recurrent bronchitis | 2.4% | 1/42 |
| Recurrent pneumonia | 2.4% | 1/42 |
| Recurrent respiratory infections | 2.4% | 1/42 |
| Recurrent lower respiratory tract infections | 2.4% | 1/42 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 61.2% | 134/219 |
| Constipation | 20.5% | 45/219 |
| Feeding difficulties in infancy | 16.4% | 36/219 |
| Gastroesophageal reflux | 11.4% | 25/219 |
| Feeding difficulties | 10.5% | 23/219 |
| Umbilical hernia | 4.1% | 9/219 |
| Failure to thrive | 3.7% | 8/219 |
| Diarrhea | 2.7% | 6/219 |
| Dysphagia | 2.7% | 6/219 |
| Nasogastric tube feeding in infancy | 2.7% | 6/219 |
| Poor suck | 2.7% | 6/219 |
| Inguinal hernia | 2.3% | 5/219 |
| Failure to thrive in infancy | 1.8% | 4/219 |
| Gastrostomy tube feeding in infancy | 1.8% | 4/219 |
| Abnormality of the abdomen | 1.4% | 3/219 |
| Pyloric stenosis | 1.4% | 3/219 |
| Abnormality of the intestine | 0.9% | 2/219 |
| Anal fistula | 0.9% | 2/219 |
| Episodic vomiting | 0.9% | 2/219 |
| Gastroparesis | 0.9% | 2/219 |
| Hernia of the abdominal wall | 0.9% | 2/219 |
| Intestinal malrotation | 0.9% | 2/219 |
| Lactose intolerance | 0.9% | 2/219 |
| Laryngomalacia | 0.9% | 2/219 |
| Vomiting | 0.9% | 2/219 |
| Abnormal vascular physiology | 0.5% | 1/219 |
| Abnormality of the gastrointestinal tract | 0.5% | 1/219 |
| Anteriorly placed anus | 0.5% | 1/219 |
| Aspiration | 0.5% | 1/219 |
| Celiac disease | 0.5% | 1/219 |
| Chronic constipation | 0.5% | 1/219 |
| Cow milk allergy | 0.5% | 1/219 |
| Dehydration | 0.5% | 1/219 |
| Esophagitis | 0.5% | 1/219 |
| Gastrointestinal dysmotility | 0.5% | 1/219 |
| Hepatosplenomegaly | 0.5% | 1/219 |
| Hiatus hernia | 0.5% | 1/219 |
| Hyperinsulinemia | 0.5% | 1/219 |
| Intestinal obstruction | 0.5% | 1/219 |
| Intestinal lymphangiectasia | 0.5% | 1/219 |
| Malnutrition | 0.5% | 1/219 |
| Ulcerative colitis | 0.5% | 1/219 |
| Urogenital | ||
| Abnormality of the urogenital system | 38.0% | 79/208 |
| Bilateral cryptorchidism | 13.0% | 27/208 |
| Cryptorchidism | 6.7% | 14/208 |
| Unilateral cryptorchidism | 6.7% | 14/208 |
| Hydronephrosis | 2.4% | 5/208 |
| Nephrolithiasis | 2.4% | 5/208 |
| Inguinal hernia | 1.9% | 4/208 |
| Retractile testis | 1.9% | 4/208 |
| Vesicoureteral reflux | 1.4% | 3/208 |
| Abnormality of the urinary system | 1.0% | 2/208 |
| Abnormality of the penis | 1.0% | 2/208 |
| Abnormality of the genitourinary system | 1.0% | 2/208 |
| Increased size of the clitoris | 1.0% | 2/208 |
| Scrotal hypoplasia | 1.0% | 2/208 |
| Abnormal renal morphology | 0.5% | 1/208 |
| Abnormality of the urinary system physiology | 0.5% | 1/208 |
| Abnormality of the testis | 0.5% | 1/208 |
| Abnormality of the ureter | 0.5% | 1/208 |
| Abnormality of the kidney | 0.5% | 1/208 |
| Aplasia of the uterus | 0.5% | 1/208 |
| Aplasia of the upper vagina | 0.5% | 1/208 |
| Chronic kidney disease | 0.5% | 1/208 |
| Clitoral hypertrophy | 0.5% | 1/208 |
| Decreased testicular size | 0.5% | 1/208 |
| Elevated serum creatinine | 0.5% | 1/208 |
| Enuresis nocturna | 0.5% | 1/208 |
| Functional abnormality of the bladder | 0.5% | 1/208 |
| Hydrocele testis | 0.5% | 1/208 |
| Hydroureter | 0.5% | 1/208 |
| Hypoplastic male external genitalia | 0.5% | 1/208 |
| Nephrotic syndrome | 0.5% | 1/208 |
| Nephrocalcinosis | 0.5% | 1/208 |
| Proteinuria | 0.5% | 1/208 |
| Pyelonephritis | 0.5% | 1/208 |
| Renal duplication | 0.5% | 1/208 |
| Renal cyst | 0.5% | 1/208 |
| Renal dysplasia | 0.5% | 1/208 |
| Small scrotum | 0.5% | 1/208 |
| Stage 5 chronic kidney disease | 0.5% | 1/208 |
| Unilateral renal atrophy | 0.5% | 1/208 |
| Ureteral duplication | 0.5% | 1/208 |
| Urethral valve | 0.5% | 1/208 |
| Urinary retention | 0.5% | 1/208 |
| Webbed penis | 0.5% | 1/208 |
| Skeleton | ||
| Skeletal abnormalities | 88.4% | 213/241 |
| Scoliosis | 19.9% | 48/241 |
| Abnormality of the distal phalanx of the 5th finger | 16.2% | 39/241 |
| Clinodactyly | 12.0% | 29/241 |
| Prominent interphalangeal joints | 12.0% | 29/241 |
| Short distal phalanx of finger | 11.6% | 28/241 |
| Short 5th finger | 10.0% | 24/241 |
| Sandal gap | 9.5% | 23/241 |
| Delayed skeletal maturation | 8.3% | 20/241 |
| Pes planus | 7.5% | 18/241 |
| Short phalanx of finger | 7.5% | 18/241 |
| Brachydactyly syndrome | 7.1% | 17/241 |
| Joint laxity | 6.2% | 15/241 |
| Long hallux | 5.8% | 14/241 |
| Abnormality of the sternum | 5.4% | 13/241 |
| Short stature | 5.4% | 13/241 |
| Abnormality of the neck | 5.0% | 12/241 |
| Brachycephaly | 3.3% | 8/241 |
| Clinodactyly of the 5th finger | 3.3% | 8/241 |
| Plagiocephaly | 3.3% | 8/241 |
| Microcephaly | 2.9% | 7/241 |
| Prominent fingertip pads | 2.9% | 7/241 |
| Arthritis | 2.1% | 5/241 |
| Dolichocephaly | 2.1% | 5/241 |
| Frontal bossing | 2.1% | 5/241 |
| Patellar dislocation | 2.1% | 5/241 |
| Pectus excavatum | 2.1% | 5/241 |
| All | 1.7% | 4/241 |
| Broad thumb | 1.7% | 4/241 |
| Hyperlordosis | 1.7% | 4/241 |
| Short distal phalanx of the 5th finger | 1.7% | 4/241 |
| Single transverse palmar crease | 1.7% | 4/241 |
| Abnormality of the thumb | 1.2% | 3/241 |
| Broad hallux | 1.2% | 3/241 |
| Camptodactyly of finger | 1.2% | 3/241 |
| Cone-shaped epiphysis | 1.2% | 3/241 |
| Delayed eruption of permanent teeth | 1.2% | 3/241 |
| Generalized hypotonia | 1.2% | 3/241 |
| Hallux valgus | 1.2% | 3/241 |
| Joint hypermobility | 1.2% | 3/241 |
| Kyphosis | 1.2% | 3/241 |
| Recurrent patellar dislocation | 1.2% | 3/241 |
| Short distal phalanx of toe | 1.2% | 3/241 |
| Short finger | 1.2% | 3/241 |
| Abnormal joint morphology | 0.8% | 2/241 |
| Abnormality of the distal phalanx of finger | 0.8% | 2/241 |
| Accelerated skeletal maturation | 0.8% | 2/241 |
| Aplasia/Hypoplasia of the phalanges of the hand | 0.8% | 2/241 |
| Aplasia/Hypoplasia of the distal phalanges of the hand | 0.8% | 2/241 |
| Broad hallux phalanx | 0.8% | 2/241 |
| Broad phalanges of the hand | 0.8% | 2/241 |
| Broad foot | 0.8% | 2/241 |
| Broad phalanx of the toes | 0.8% | 2/241 |
| Broad distal phalanx of finger | 0.8% | 2/241 |
| Central hypotonia | 0.8% | 2/241 |
| Curved phalanges of the 2nd finger | 0.8% | 2/241 |
| Curved phalanges of the 5th finger | 0.8% | 2/241 |
| Delayed eruption of primary teeth | 0.8% | 2/241 |
| Genu valgum | 0.8% | 2/241 |
| Short middle phalanx of the 5th finger | 0.8% | 2/241 |
| Short metacarpal | 0.8% | 2/241 |
| Short metatarsal | 0.8% | 2/241 |
| Short foot | 0.8% | 2/241 |
| Short toe | 0.8% | 2/241 |
| Short neck | 0.8% | 2/241 |
| Small hand | 0.8% | 2/241 |
| Triphalangeal thumb | 0.8% | 2/241 |
| Valgus foot deformity | 0.8% | 2/241 |
| Widely spaced teeth | 0.8% | 2/241 |
| Wide intermamillary distance | 0.8% | 2/241 |
| Abnormality of the calvaria | 0.4% | 1/241 |
| Abnormality of the scapula | 0.4% | 1/241 |
| Abnormality of the tarsal bones | 0.4% | 1/241 |
| Abnormality of the vertebrae | 0.4% | 1/241 |
| Abnormality of the phalanges of the 5th finger | 0.4% | 1/241 |
| Abnormal cervical curvature | 0.4% | 1/241 |
| Abnormality of the hip bone | 0.4% | 1/241 |
| Abnormality of the occipital bone | 0.4% | 1/241 |
| Abnormal metacarpal morphology | 0.4% | 1/241 |
| Adducted thumb | 0.4% | 1/241 |
| Aplasia/Hypoplasia of the distal phalanges of the toes | 0.4% | 1/241 |
| Aplasia/Hypoplasia of the 2nd finger | 0.4% | 1/241 |
| Aplasia/Hypoplasia of fingers | 0.4% | 1/241 |
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger | 0.4% | 1/241 |
| Aplasia/Hypoplasia of the nails | 0.4% | 1/241 |
| Aplasia/Hypoplasia of the phalanges of the 5th toe | 0.4% | 1/241 |
| Bilateral elbow dislocations | 0.4% | 1/241 |
| Broad distal phalanges of all fingers | 0.4% | 1/241 |
| Broad distal hallux | 0.4% | 1/241 |
| Broad palm | 0.4% | 1/241 |
| Camptodactyly | 0.4% | 1/241 |
| Carious teeth | 0.4% | 1/241 |
| Clinodactyly of the 4th finger | 0.4% | 1/241 |
| Congenital hip dislocation | 0.4% | 1/241 |
| Coronal craniosynostosis | 0.4% | 1/241 |
| Curved hallux phalanx | 0.4% | 1/241 |
| Curved thumb phalanx | 0.4% | 1/241 |
| Curved phalanges of the 4th finger | 0.4% | 1/241 |
| Deep plantar creases | 0.4% | 1/241 |
| Delayed eruption of teeth | 0.4% | 1/241 |
| Difficulty walking | 0.4% | 1/241 |
| Dysharmonic delayed bone age | 0.4% | 1/241 |
| Elbow dislocation | 0.4% | 1/241 |
| Flat occiput | 0.4% | 1/241 |
| Gingival overgrowth | 0.4% | 1/241 |
| Hip dislocation | 0.4% | 1/241 |
| Hypertrichosis | 0.4% | 1/241 |
| Hypodontia | 0.4% | 1/241 |
| Inguinal hernia | 0.4% | 1/241 |
| Joint dislocation | 0.4% | 1/241 |
| Kyphoscoliosis | 0.4% | 1/241 |
| Lambdoidal craniosynostosis | 0.4% | 1/241 |
| Limited elbow extension | 0.4% | 1/241 |
| Long toe | 0.4% | 1/241 |
| Long distal phalanx of finger | 0.4% | 1/241 |
| Lower limb pain | 0.4% | 1/241 |
| Macrocephaly at birth | 0.4% | 1/241 |
| Macrocephaly | 0.4% | 1/241 |
| Metatarsus adductus | 0.4% | 1/241 |
| Micrognathia | 0.4% | 1/241 |
| Mild short stature | 0.4% | 1/241 |
| Oligodontia | 0.4% | 1/241 |
| Overlapping toe | 0.4% | 1/241 |
| Pes cavus | 0.4% | 1/241 |
| Positional foot deformity | 0.4% | 1/241 |
| Posterior plagiocephaly | 0.4% | 1/241 |
| Proximal placement of thumb | 0.4% | 1/241 |
| Rhizomelic arm shortening | 0.4% | 1/241 |
| Rhizomelic leg shortening | 0.4% | 1/241 |
| Rocker bottom foot | 0.4% | 1/241 |
| Sacral dimple | 0.4% | 1/241 |
| Short sternum | 0.4% | 1/241 |
| Short phalanx of the 5th toe | 0.4% | 1/241 |
| Shortening of all phalanges of fingers | 0.4% | 1/241 |
| Shortening of all phalanges of the toes | 0.4% | 1/241 |
| Short hallux | 0.4% | 1/241 |
| Sparse scalp hair | 0.4% | 1/241 |
| Spondylolysis | 0.4% | 1/241 |
| Symphalangism affecting the phalanges of the 5th toe | 0.4% | 1/241 |
| Talipes valgus | 0.4% | 1/241 |
| Thick hair | 0.4% | 1/241 |
| Thoracic scoliosis | 0.4% | 1/241 |
| Toe syndactyly | 0.4% | 1/241 |
| Toe walking | 0.4% | 1/241 |
| Valgus hand deformity | 0.4% | 1/241 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 93.0% | 227/244 |
| Hypertrichosis | 54.9% | 134/244 |
| Sparse scalp hair | 35.2% | 86/244 |
| Low anterior hairline | 27.0% | 66/244 |
| Hypoplastic fifth fingernail | 20.1% | 49/244 |
| Thick hair | 15.6% | 38/244 |
| Prominent fingertip pads | 13.1% | 32/244 |
| Low posterior hairline | 10.2% | 25/244 |
| Eczema | 9.0% | 22/244 |
| Generalized hypertrichosis | 8.2% | 20/244 |
| Hypoplastic fifth toenail | 6.6% | 16/244 |
| Small nail | 6.6% | 16/244 |
| Hypoplastic toenails | 4.9% | 12/244 |
| Hyperhidrosis | 4.5% | 11/244 |
| Atopic dermatitis | 4.1% | 10/244 |
| Fine hair | 4.1% | 10/244 |
| Wide intermamillary distance | 4.1% | 10/244 |
| Hypoplastic fingernail | 3.7% | 9/244 |
| Nevus | 2.5% | 6/244 |
| Single transverse palmar crease | 2.0% | 5/244 |
| Abnormality of the nail | 1.6% | 4/244 |
| Aplasia/Hypoplasia of the nails | 1.6% | 4/244 |
| Excessive wrinkled skin | 1.6% | 4/244 |
| Slow-growing nails | 1.6% | 4/244 |
| Abnormality of the skin | 1.2% | 3/244 |
| Abnormality of the scalp hair | 1.2% | 3/244 |
| Coarse hair | 1.2% | 3/244 |
| Cutis marmorata | 1.2% | 3/244 |
| Hyperkeratosis | 1.2% | 3/244 |
| Hyperpigmentation of the skin | 1.2% | 3/244 |
| Sparse hair | 1.2% | 3/244 |
| Thin fingernail | 1.2% | 3/244 |
| Abnormally lax or hyperextensible skin | 0.8% | 2/244 |
| Bilateral single transverse palmar creases | 0.8% | 2/244 |
| Cafe-au-lait spot | 0.8% | 2/244 |
| Hemangioma | 0.8% | 2/244 |
| Hypopigmentation of the skin | 0.8% | 2/244 |
| Jaundice | 0.8% | 2/244 |
| Melanocytic nevus | 0.8% | 2/244 |
| Numerous nevi | 0.8% | 2/244 |
| Sacral dimple | 0.8% | 2/244 |
| Short nail | 0.8% | 2/244 |
| Short distal phalanx of finger | 0.8% | 2/244 |
| Thickened skin | 0.8% | 2/244 |
| Thin nail | 0.8% | 2/244 |
| Thoracic hypertrichosis | 0.8% | 2/244 |
| Abnormality of the palmar creases | 0.4% | 1/244 |
| Abnormality of the hair | 0.4% | 1/244 |
| Abnormality of the distal phalanx of the 5th finger | 0.4% | 1/244 |
| Abnormality of hair growth rate | 0.4% | 1/244 |
| Abnormal position of hair whorl | 0.4% | 1/244 |
| Abnormality of hair growth | 0.4% | 1/244 |
| Absent fifth toenail | 0.4% | 1/244 |
| Absent fifth fingernail | 0.4% | 1/244 |
| Acanthosis nigricans | 0.4% | 1/244 |
| Alopecia of scalp | 0.4% | 1/244 |
| Alopecia | 0.4% | 1/244 |
| Aplastic/hypoplastic toenail | 0.4% | 1/244 |
| Clinodactyly | 0.4% | 1/244 |
| Clinodactyly of the 5th finger | 0.4% | 1/244 |
| Clubbing | 0.4% | 1/244 |
| Congenital, generalized hypertrichosis | 0.4% | 1/244 |
| Congenital giant melanocytic nevus | 0.4% | 1/244 |
| Curly hair | 0.4% | 1/244 |
| Deep palmar crease | 0.4% | 1/244 |
| Depigmentation/hyperpigmentation of skin | 0.4% | 1/244 |
| Elbow hypertrichosis | 0.4% | 1/244 |
| Facial hirsutism | 0.4% | 1/244 |
| Facial hypertrichosis | 0.4% | 1/244 |
| Few cafe-au-lait spots | 0.4% | 1/244 |
| Frontal hirsutism | 0.4% | 1/244 |
| High anterior hairline | 0.4% | 1/244 |
| Hirsutism | 0.4% | 1/244 |
| Hyperextensible skin | 0.4% | 1/244 |
| Increased body weight | 0.4% | 1/244 |
| Irregular hyperpigmentation | 0.4% | 1/244 |
| Localized hirsutism | 0.4% | 1/244 |
| Localized skin lesion | 0.4% | 1/244 |
| Multiple cafe-au-lait spots | 0.4% | 1/244 |
| Neoplasm of the skin | 0.4% | 1/244 |
| Pallor | 0.4% | 1/244 |
| Polyhydramnios | 0.4% | 1/244 |
| Premature skin wrinkling | 0.4% | 1/244 |
| Red hair | 0.4% | 1/244 |
| Sacral hypertrichosis | 0.4% | 1/244 |
| Short 5th finger | 0.4% | 1/244 |
| Skin tags | 0.4% | 1/244 |
| Slow-growing hair | 0.4% | 1/244 |
| Slow-growing scalp hair | 0.4% | 1/244 |
| Sparse eyebrow | 0.4% | 1/244 |
| Spotty hyperpigmentation | 0.4% | 1/244 |
| Striae distensae | 0.4% | 1/244 |
| Thick eyebrow | 0.4% | 1/244 |
| Thin toenail | 0.4% | 1/244 |
| Urticaria | 0.4% | 1/244 |
| Vitiligo | 0.4% | 1/244 |
| Webbed neck | 0.4% | 1/244 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 18.4% | 34/185 |
| Hypothyroidism | 7.0% | 13/185 |
| Growth hormone deficiency | 5.4% | 10/185 |
| Compensated hypothyroidism | 1.1% | 2/185 |
| Diabetes mellitus | 1.1% | 2/185 |
| Type II diabetes mellitus | 1.1% | 2/185 |
| Abnormality of thyroid physiology | 0.5% | 1/185 |
| Central hypothyroidism | 0.5% | 1/185 |
| Congenital hypothyroidism | 0.5% | 1/185 |
| Decreased circulating cortisol level | 0.5% | 1/185 |
| Delayed puberty | 0.5% | 1/185 |
| Elevated circulating parathyroid hormone (PTH) level | 0.5% | 1/185 |
| Gynecomastia | 0.5% | 1/185 |
| Increased circulating androgen level | 0.5% | 1/185 |
| Increased serum free triiodothyronine (fT3) | 0.5% | 1/185 |
| Precocious puberty | 0.5% | 1/185 |
| Puberty and gonadal disorders | 0.5% | 1/185 |
| Type I diabetes mellitus | 0.5% | 1/185 |
| Abnormality of the metabolic system | 8.6% | 16/185 |
| Hypercholesterolemia | 1.1% | 2/185 |
| Hypocalcemia | 1.1% | 2/185 |
| Abnormality of metabolism/homeostasis | 0.5% | 1/185 |
| Anemia | 0.5% | 1/185 |
| Diabetes mellitus | 0.5% | 1/185 |
| Hypercalciuria | 0.5% | 1/185 |
| Hyperglycemia | 0.5% | 1/185 |
| Hyperammonemia | 0.5% | 1/185 |
| Hypercalcemia | 0.5% | 1/185 |
| Hyperinsulinemia | 0.5% | 1/185 |
| Hypomagnesemia | 0.5% | 1/185 |
| Methylmalonic acidemia | 0.5% | 1/185 |
| Muscle abnormality related to mitochondrial dysfunction | 0.5% | 1/185 |
| Neonatal hypoglycemia | 0.5% | 1/185 |
| Obesity | 0.5% | 1/185 |
| Type I diabetes mellitus | 0.5% | 1/185 |
| Vitamin B12 deficiency | 0.5% | 1/185 |
| Abnormality of the immune system | 33.2% | 70/211 |
| Recurrent infections | 11.4% | 24/211 |
| Recurrent upper respiratory tract infections | 7.1% | 15/211 |
| Recurrent otitis media | 7.1% | 15/211 |
| Eczema | 1.4% | 3/211 |
| Recurrent lower respiratory tract infections | 1.4% | 3/211 |
| Recurrent respiratory infections | 1.4% | 3/211 |
| Recurrent urinary tract infections | 1.4% | 3/211 |
| Respiratory infections in early life | 1.4% | 3/211 |
| Abnormality of the immune system | 0.9% | 2/211 |
| Allergy | 0.9% | 2/211 |
| Asthma | 0.5% | 1/211 |
| Bronchiolitis | 0.5% | 1/211 |
| Conjunctivitis | 0.5% | 1/211 |
| Decreased antibody level in blood | 0.5% | 1/211 |
| Eosinophilia | 0.5% | 1/211 |
| Lymphopenia | 0.5% | 1/211 |
| Otitis media | 0.5% | 1/211 |
| Panhypogammaglobulinemia | 0.5% | 1/211 |
| Recurrent infections of the middle ear | 0.5% | 1/211 |
| Recurrent bronchopulmonary infections | 0.5% | 1/211 |
| Recurrent bronchitis | 0.5% | 1/211 |
| Recurrent upper and lower respiratory tract infections | 0.5% | 1/211 |
| Respiratory tract infection | 0.5% | 1/211 |
| Seasonal allergy | 0.5% | 1/211 |
| Small vessel vasculitis | 0.5% | 1/211 |
| Neoplasia | ||
| Neoplasia | 0.8% | 2/249 |
| Brain neoplasm | 0.4% | 1/249 |
| Leydig cell neoplasia | 0.4% | 1/249 |
| Neoplasm | 0.4% | 1/249 |
| Sertoli cell neoplasm | 0.4% | 1/249 |