ARID1B
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 53.4% | 156/292 |
| Female | 46.6% | 136/292 |
| Indifferent | 0% | 0/292 |
| Unknown | 0% | 0/292 |
| General | ||
| Birth Length abnormalities | 7.1% | 15/210 |
| < P3 : Birth length less than 3rd percentile | 5.7% | 12/210 |
| > P98 : Birth length greater than 97th percentile | 1.4% | 3/210 |
| Birth Weight abnormalities | 8.5% | 24/284 |
| < P3 : Small for gestational age | 7.7% | 22/284 |
| > P98 : Large for gestational age | 0.7% | 2/284 |
| Birth Head circumference abnormalities | 7.1% | 16/224 |
| > P98 : Macrocephaly at birth | 1.3% | 3/224 |
| < P3 : Congenital microcephaly | 5.8% | 13/224 |
| Current Height abnormalities | 24.8% | 69/278 |
| < P3 : Short stature | 24.5% | 68/278 |
| > P98 : Tall stature | 0.4% | 1/278 |
| Current Weight abnormalities | 16.9% | 42/249 |
| > P98 : Increased body weight | 8.4% | 21/249 |
| < P3 : Decreased body weight | 8.4% | 21/249 |
| Current Head circumference abnormalities | 7.8% | 21/269 |
| > P98 : Macrocephaly | 2.6% | 7/269 |
| < P3 : Microcephaly | 5.2% | 14/269 |
| Neurology | ||
| Neurological abnormalities | 85.4% | 223/261 |
| Muscular hypotonia | 30.3% | 79/261 |
| Generalized hypotonia | 18.4% | 48/261 |
| Seizures | 15.3% | 40/261 |
| Neonatal hypotonia | 9.2% | 24/261 |
| Generalized tonic-clonic seizures | 7.7% | 20/261 |
| Impaired pain sensation | 6.9% | 18/261 |
| Febrile seizures | 4.6% | 12/261 |
| Absence seizures | 4.2% | 11/261 |
| Developmental regression | 3.8% | 10/261 |
| Central hypotonia | 3.4% | 9/261 |
| EEG abnormality | 3.4% | 9/261 |
| Astereognosia | 3.1% | 8/261 |
| Impaired visuospatial constructive cognition | 3.1% | 8/261 |
| Visual agnosia | 3.1% | 8/261 |
| Focal seizures with impairment of consciousness or awareness | 2.7% | 7/261 |
| Abnormality of pain sensation | 2.3% | 6/261 |
| Gait ataxia | 2.3% | 6/261 |
| Hypertonia | 2.3% | 6/261 |
| Generalized tonic seizures | 1.9% | 5/261 |
| Motor delay | 1.5% | 4/261 |
| Atonic seizures | 1.1% | 3/261 |
| Hyperreflexia | 1.1% | 3/261 |
| Abnormality of nervous system physiology | 0.8% | 2/261 |
| Broad-based gait | 0.8% | 2/261 |
| Cerebral palsy | 0.8% | 2/261 |
| Colpocephaly | 0.8% | 2/261 |
| Delayed myelination | 0.8% | 2/261 |
| Focal seizures | 0.8% | 2/261 |
| Focal seizures without impairment of consciousness or awareness | 0.8% | 2/261 |
| Gait disturbance | 0.8% | 2/261 |
| Generalized seizures | 0.8% | 2/261 |
| Generalized myoclonic seizures | 0.8% | 2/261 |
| Headache | 0.8% | 2/261 |
| Lower limb hypertonia | 0.8% | 2/261 |
| Lower limb hyperreflexia | 0.8% | 2/261 |
| Muscular hypotonia of the trunk | 0.8% | 2/261 |
| Poor fine motor coordination | 0.8% | 2/261 |
| Unsteady gait | 0.8% | 2/261 |
| Upper limb hypertonia | 0.8% | 2/261 |
| Abnormality of the subarachnoid space | 0.4% | 1/261 |
| Abnormality of the corpus callosum | 0.4% | 1/261 |
| Agenesis of corpus callosum | 0.4% | 1/261 |
| Anomia | 0.4% | 1/261 |
| Ataxia | 0.4% | 1/261 |
| Central sleep apnea | 0.4% | 1/261 |
| Chorea | 0.4% | 1/261 |
| Dysarthria | 0.4% | 1/261 |
| Dysdiadochokinesis | 0.4% | 1/261 |
| Dyskinesia | 0.4% | 1/261 |
| Dysmetria | 0.4% | 1/261 |
| Dysplastic corpus callosum | 0.4% | 1/261 |
| Dystonia | 0.4% | 1/261 |
| Exercise intolerance | 0.4% | 1/261 |
| Gait imbalance | 0.4% | 1/261 |
| Gait apraxia | 0.4% | 1/261 |
| Global developmental delay | 0.4% | 1/261 |
| Hand tremor | 0.4% | 1/261 |
| Infantile axial hypotonia | 0.4% | 1/261 |
| Infantile muscular hypotonia | 0.4% | 1/261 |
| Intellectual disability, borderline | 0.4% | 1/261 |
| Involuntary movements | 0.4% | 1/261 |
| Muscle weakness | 0.4% | 1/261 |
| Myoclonus | 0.4% | 1/261 |
| Oromandibular dystonia | 0.4% | 1/261 |
| Partial agenesis of the corpus callosum | 0.4% | 1/261 |
| Poor gross motor coordination | 0.4% | 1/261 |
| Posterior fossa cyst | 0.4% | 1/261 |
| Postural instability | 0.4% | 1/261 |
| Sensory impairment | 0.4% | 1/261 |
| Stroke | 0.4% | 1/261 |
| Torticollis | 0.4% | 1/261 |
| Widened subarachnoid space | 0.4% | 1/261 |
| Behavioral problems | 71.6% | 169/236 |
| Autistic behavior | 31.4% | 74/236 |
| Hyperactivity | 19.9% | 47/236 |
| Attention deficit hyperactivity disorder | 14.0% | 33/236 |
| Autism | 13.1% | 31/236 |
| Short attention span | 12.3% | 29/236 |
| Impaired social interactions | 8.9% | 21/236 |
| Aggressive behavior | 7.2% | 17/236 |
| Abnormal fear/anxiety-related behavior | 6.4% | 15/236 |
| Stereotypic behavior | 6.4% | 15/236 |
| Obsessive-compulsive behavior | 5.5% | 13/236 |
| Anxiety | 5.1% | 12/236 |
| Impulsivity | 5.1% | 12/236 |
| Abnormal social behavior | 4.7% | 11/236 |
| Hyperkinesis | 4.2% | 10/236 |
| Behavioral abnormality | 3.4% | 8/236 |
| Impaired social reciprocity | 2.5% | 6/236 |
| Obsessive-compulsive trait | 2.5% | 6/236 |
| Abnormal emotion/affect behavior | 1.7% | 4/236 |
| Abnormal aggressive, impulsive or violent behavior | 1.7% | 4/236 |
| Drooling | 1.7% | 4/236 |
| Self-injurious behavior | 1.7% | 4/236 |
| Inflexible adherence to routines or rituals | 1.3% | 3/236 |
| Poor eye contact | 1.3% | 3/236 |
| Sleep disturbance | 1.3% | 3/236 |
| Absent speech | 0.8% | 2/236 |
| Emotional lability | 0.8% | 2/236 |
| Hyperacusis | 0.8% | 2/236 |
| Oral aversion | 0.8% | 2/236 |
| Repetitive compulsive behavior | 0.8% | 2/236 |
| Self-mutilation | 0.8% | 2/236 |
| Abnormality of nervous system physiology | 0.4% | 1/236 |
| Agoraphobia | 0.4% | 1/236 |
| Bruxism | 0.4% | 1/236 |
| Clumsiness | 0.4% | 1/236 |
| Developmental regression | 0.4% | 1/236 |
| Facial tics | 0.4% | 1/236 |
| Hair-pulling | 0.4% | 1/236 |
| Happy demeanor | 0.4% | 1/236 |
| Head-banging | 0.4% | 1/236 |
| Impaired ability to form peer relationships | 0.4% | 1/236 |
| Impaired pain sensation | 0.4% | 1/236 |
| Lack of insight | 0.4% | 1/236 |
| Nail-biting | 0.4% | 1/236 |
| Overfriendliness | 0.4% | 1/236 |
| Pain insensitivity | 0.4% | 1/236 |
| Personality disorder | 0.4% | 1/236 |
| Phonophobia | 0.4% | 1/236 |
| Polyphagia | 0.4% | 1/236 |
| Restlessness | 0.4% | 1/236 |
| Restrictive behavior | 0.4% | 1/236 |
| Rigidity | 0.4% | 1/236 |
| Shyness | 0.4% | 1/236 |
| Social and occupational deterioration | 0.4% | 1/236 |
| Violent behavior | 0.4% | 1/236 |
| Brain abnormality | 71.9% | 156/217 |
| Agenesis of corpus callosum | 20.3% | 44/217 |
| Partial agenesis of the corpus callosum | 9.7% | 21/217 |
| Hypoplasia of the corpus callosum | 8.3% | 18/217 |
| Delayed myelination | 7.4% | 16/217 |
| Colpocephaly | 6.0% | 13/217 |
| Aplasia/Hypoplasia of the corpus callosum | 4.6% | 10/217 |
| Enlarged cisterna magna | 4.6% | 10/217 |
| Abnormality of the corpus callosum | 3.7% | 8/217 |
| Thick corpus callosum | 3.7% | 8/217 |
| Ventriculomegaly | 3.7% | 8/217 |
| Short corpus callosum | 3.2% | 7/217 |
| Arachnoid cyst | 2.8% | 6/217 |
| Cerebellar cyst | 2.8% | 6/217 |
| Dysplastic corpus callosum | 2.8% | 6/217 |
| Retrocerebellar cyst | 2.8% | 6/217 |
| Arnold-Chiari type I malformation | 2.3% | 5/217 |
| Intracranial cystic lesion | 2.3% | 5/217 |
| Cerebral atrophy | 1.4% | 3/217 |
| Cerebellar hypoplasia | 1.4% | 3/217 |
| Cortical dysplasia | 1.4% | 3/217 |
| Heterotopia | 1.4% | 3/217 |
| Hydrocephalus | 1.4% | 3/217 |
| Abnormality of the cerebral white matter | 0.9% | 2/217 |
| Abnormality of lateral ventricle | 0.9% | 2/217 |
| Abnormal basal ganglia MRI signal intensity | 0.9% | 2/217 |
| Abnormality of forebrain morphology | 0.9% | 2/217 |
| Absent septum pellucidum | 0.9% | 2/217 |
| Aplasia/Hypoplasia of the cerebrum | 0.9% | 2/217 |
| Attention deficit hyperactivity disorder | 0.9% | 2/217 |
| Cerebral hypoplasia | 0.9% | 2/217 |
| Choroid plexus cyst | 0.9% | 2/217 |
| Lambdoidal craniosynostosis | 0.9% | 2/217 |
| Perivascular spaces | 0.9% | 2/217 |
| Sagittal craniosynostosis | 0.9% | 2/217 |
| Abnormality of the periventricular white matter | 0.5% | 1/217 |
| Abnormality of the optic nerve | 0.5% | 1/217 |
| Abnormality of corpus cavernosum | 0.5% | 1/217 |
| Abnormality of neuronal migration | 0.5% | 1/217 |
| Abnormality of the subarachnoid space | 0.5% | 1/217 |
| Abnormality of the cerebellum | 0.5% | 1/217 |
| Abnormal length of corpus callosum | 0.5% | 1/217 |
| Abnormality of the cerebral ventricles | 0.5% | 1/217 |
| Abnormality of cerebral veins | 0.5% | 1/217 |
| Abnormality of the vestibulocochlear nerve | 0.5% | 1/217 |
| Abnormal brainstem MRI signal intensity | 0.5% | 1/217 |
| Abnormality of the cerebral cortex | 0.5% | 1/217 |
| Abnormality of the posterior cranial fossa | 0.5% | 1/217 |
| Abnormality of midbrain morphology | 0.5% | 1/217 |
| Abnormal cortical gyration | 0.5% | 1/217 |
| Abnormality of the pons | 0.5% | 1/217 |
| Abnormal thalamic MRI signal intensity | 0.5% | 1/217 |
| Abnormality of the choroid | 0.5% | 1/217 |
| Aplasia of the falx cerebri | 0.5% | 1/217 |
| Aplasia/Hypoplasia involving the central nervous system | 0.5% | 1/217 |
| Asymmetric ventricles | 0.5% | 1/217 |
| Bilateral intracranial calcifications | 0.5% | 1/217 |
| Brain atrophy | 0.5% | 1/217 |
| Cavum septum pellucidum | 0.5% | 1/217 |
| Cerebellar dysplasia | 0.5% | 1/217 |
| Cerebellar agenesis | 0.5% | 1/217 |
| Dandy-Walker malformation | 0.5% | 1/217 |
| Delayed CNS myelination | 0.5% | 1/217 |
| Dilation of lateral ventricles | 0.5% | 1/217 |
| Encephalopathy | 0.5% | 1/217 |
| Enlarged fetal cisterna magna | 0.5% | 1/217 |
| Hypodysplasia of the corpus callosum | 0.5% | 1/217 |
| Hypoplasia of the pons | 0.5% | 1/217 |
| Hypoplastic olfactory lobes | 0.5% | 1/217 |
| Hypoplasia of the brainstem | 0.5% | 1/217 |
| Hypoplastic anterior commissure | 0.5% | 1/217 |
| Inferior vermis hypoplasia | 0.5% | 1/217 |
| Limbic malformations | 0.5% | 1/217 |
| Microcephaly | 0.5% | 1/217 |
| Midline central nervous system lipomas | 0.5% | 1/217 |
| Multiple suture craniosynostosis | 0.5% | 1/217 |
| Neonatal hypotonia | 0.5% | 1/217 |
| Neoplasm of the central nervous system | 0.5% | 1/217 |
| Pachygyria | 0.5% | 1/217 |
| Polymicrogyria | 0.5% | 1/217 |
| Prominent supraorbital ridges | 0.5% | 1/217 |
| Relative macrocephaly | 0.5% | 1/217 |
| Seizures | 0.5% | 1/217 |
| Subarachnoid hemorrhage | 0.5% | 1/217 |
| Syringomyelia | 0.5% | 1/217 |
| Talipes calcaneovarus | 0.5% | 1/217 |
| Facial abnormalities | ||
| Abnormality of the ear | 61.3% | 155/253 |
| Low-set ears | 15.0% | 38/253 |
| Abnormality of the ear | 10.3% | 26/253 |
| Abnormality of the pinna | 9.1% | 23/253 |
| Low-set, posteriorly rotated ears | 7.9% | 20/253 |
| Posteriorly rotated ears | 7.1% | 18/253 |
| Protruding ear | 4.7% | 12/253 |
| Macrotia | 4.3% | 11/253 |
| Abnormality of the outer ear | 3.6% | 9/253 |
| Uplifted earlobe | 3.6% | 9/253 |
| External ear malformation | 2.4% | 6/253 |
| Overfolded helix | 2.4% | 6/253 |
| Preauricular pit | 2.0% | 5/253 |
| Cupped ear | 1.6% | 4/253 |
| Forward facing earlobe | 1.2% | 3/253 |
| Small earlobe | 1.2% | 3/253 |
| Thickened helices | 1.2% | 3/253 |
| Underdeveloped superior crus of antihelix | 1.2% | 3/253 |
| Abnormality of earlobe | 0.8% | 2/253 |
| Abnormal location of ears | 0.8% | 2/253 |
| Cholesteatoma | 0.8% | 2/253 |
| Abnormality of periauricular region | 0.4% | 1/253 |
| Absent earlobe | 0.4% | 1/253 |
| Asymmetry of the ears | 0.4% | 1/253 |
| Cleft helix | 0.4% | 1/253 |
| Darwin tubercle of helix | 0.4% | 1/253 |
| Large earlobe | 0.4% | 1/253 |
| Long ear | 0.4% | 1/253 |
| Long eyelashes | 0.4% | 1/253 |
| Microtia | 0.4% | 1/253 |
| Mild hearing impairment | 0.4% | 1/253 |
| Periauricular skin pits | 0.4% | 1/253 |
| Prominent crus of helix | 0.4% | 1/253 |
| Prominent ear helix | 0.4% | 1/253 |
| Recurrent infections of the middle ear | 0.4% | 1/253 |
| Recurrent otitis media | 0.4% | 1/253 |
| Satyr ear | 0.4% | 1/253 |
| Squared superior portion of helix | 0.4% | 1/253 |
| Thick eyebrow | 0.4% | 1/253 |
| Underdeveloped nasal alae | 0.4% | 1/253 |
| Abnormality of the eye | 86.5% | 225/260 |
| Thick eyebrow | 57.3% | 149/260 |
| Long eyelashes | 46.2% | 120/260 |
| Downslanted palpebral fissures | 14.6% | 38/260 |
| Ptosis | 8.1% | 21/260 |
| Synophrys | 7.7% | 20/260 |
| Periorbital wrinkles | 6.5% | 17/260 |
| Hypertelorism | 6.2% | 16/260 |
| Upslanted palpebral fissure | 6.2% | 16/260 |
| Epicanthus | 5.4% | 14/260 |
| Long palpebral fissure | 4.2% | 11/260 |
| Abnormality of the lacrimal duct | 3.8% | 10/260 |
| Bilateral ptosis | 3.1% | 8/260 |
| Highly arched eyebrow | 2.7% | 7/260 |
| Prominent eyelashes | 2.7% | 7/260 |
| Small palpebral fissure | 2.7% | 7/260 |
| Strabismus | 2.7% | 7/260 |
| Unilateral ptosis | 2.3% | 6/260 |
| Facial wrinkling | 1.9% | 5/260 |
| Short palpebral fissure | 1.9% | 5/260 |
| Proptosis | 1.2% | 3/260 |
| Sparse eyebrow | 1.2% | 3/260 |
| Abnormality of the periorbital region | 0.8% | 2/260 |
| Abnormality of the nasolacrimal system | 0.8% | 2/260 |
| Decreased lacrimation | 0.8% | 2/260 |
| Esotropia | 0.8% | 2/260 |
| Horizontal nystagmus | 0.8% | 2/260 |
| Nasolacrimal duct obstruction | 0.8% | 2/260 |
| Abnormality of the eyelashes | 0.4% | 1/260 |
| Blue sclerae | 0.4% | 1/260 |
| Broad forehead | 0.4% | 1/260 |
| Congenital ptosis | 0.4% | 1/260 |
| Deeply set eye | 0.4% | 1/260 |
| Excessive wrinkled skin | 0.4% | 1/260 |
| Exotropia | 0.4% | 1/260 |
| High forehead | 0.4% | 1/260 |
| Lacrimal duct stenosis | 0.4% | 1/260 |
| Lisch nodules | 0.4% | 1/260 |
| Long eyebrows | 0.4% | 1/260 |
| Lower eyelid edema | 0.4% | 1/260 |
| Medial flaring of the eyebrow | 0.4% | 1/260 |
| Muscular hypotonia of the trunk | 0.4% | 1/260 |
| Periorbital fullness | 0.4% | 1/260 |
| Prominent epicanthal folds | 0.4% | 1/260 |
| Prominent glabella | 0.4% | 1/260 |
| Redundant skin | 0.4% | 1/260 |
| Short eyelashes | 0.4% | 1/260 |
| Telecanthus | 0.4% | 1/260 |
| Unilateral narrow palpebral fissure | 0.4% | 1/260 |
| Abnormality of the nose | 79.0% | 203/257 |
| Broad nasal tip | 39.3% | 101/257 |
| Thick nasal alae | 26.5% | 68/257 |
| Wide nasal bridge | 21.8% | 56/257 |
| Anteverted nares | 17.9% | 46/257 |
| Wide nasal base | 17.1% | 44/257 |
| Short nose | 12.8% | 33/257 |
| Depressed nasal bridge | 12.1% | 31/257 |
| Long nose | 7.4% | 19/257 |
| Wide nose | 6.2% | 16/257 |
| Bulbous nose | 5.1% | 13/257 |
| Prominent nasal tip | 2.7% | 7/257 |
| Prominent nasal bridge | 2.7% | 7/257 |
| Abnormality of the columella | 1.6% | 4/257 |
| Long philtrum | 1.6% | 4/257 |
| Narrow nasal tip | 1.2% | 3/257 |
| Short philtrum | 1.2% | 3/257 |
| Low hanging columella | 0.8% | 2/257 |
| Narrow nasal bridge | 0.8% | 2/257 |
| Thick lower lip vermilion | 0.8% | 2/257 |
| Underdeveloped nasal alae | 0.8% | 2/257 |
| Abnormality of the nasal tip | 0.4% | 1/257 |
| Abnormality of the nasal alae | 0.4% | 1/257 |
| Abnormality of the nasal bridge | 0.4% | 1/257 |
| Abnormal nasal morphology | 0.4% | 1/257 |
| Broad philtrum | 0.4% | 1/257 |
| Choanal atresia | 0.4% | 1/257 |
| Flat nasal alae | 0.4% | 1/257 |
| Hypodontia | 0.4% | 1/257 |
| Narrow nasal base | 0.4% | 1/257 |
| Nasal polyposis | 0.4% | 1/257 |
| Nasal obstruction | 0.4% | 1/257 |
| Papule | 0.4% | 1/257 |
| Prominent nose | 0.4% | 1/257 |
| Retrognathia | 0.4% | 1/257 |
| Thick vermilion border | 0.4% | 1/257 |
| Thick upper lip vermilion | 0.4% | 1/257 |
| Thin lower lip vermilion | 0.4% | 1/257 |
| Thin upper lip vermilion | 0.4% | 1/257 |
| Abnormality of the mouth | 92.3% | 241/261 |
| Wide mouth | 51.0% | 133/261 |
| Thick lower lip vermilion | 47.1% | 123/261 |
| Thin upper lip vermilion | 29.9% | 78/261 |
| Long philtrum | 22.2% | 58/261 |
| Thick upper lip vermilion | 19.9% | 52/261 |
| Everted lower lip vermilion | 19.5% | 51/261 |
| Broad philtrum | 14.6% | 38/261 |
| High palate | 13.4% | 35/261 |
| Short philtrum | 13.4% | 35/261 |
| Widely spaced teeth | 12.3% | 32/261 |
| Delayed eruption of primary teeth | 11.5% | 30/261 |
| Delayed eruption of permanent teeth | 7.3% | 19/261 |
| Cleft palate | 4.6% | 12/261 |
| Macroglossia | 4.6% | 12/261 |
| Gingival overgrowth | 4.2% | 11/261 |
| Micrognathia | 3.8% | 10/261 |
| Hypodontia | 3.1% | 8/261 |
| Open mouth | 2.3% | 6/261 |
| Retrognathia | 2.3% | 6/261 |
| Bifid uvula | 1.9% | 5/261 |
| Coarse facial features | 1.9% | 5/261 |
| Narrow mouth | 1.5% | 4/261 |
| Abnormality of the philtrum | 1.1% | 3/261 |
| Irregular dentition | 1.1% | 3/261 |
| Microdontia | 1.1% | 3/261 |
| Thin lower lip vermilion | 1.1% | 3/261 |
| Abnormality of the teeth | 0.8% | 2/261 |
| Abnormality of dental enamel | 0.8% | 2/261 |
| Abnormality of the palate | 0.8% | 2/261 |
| Ankyloglossia | 0.8% | 2/261 |
| Carious teeth | 0.8% | 2/261 |
| Dental malocclusion | 0.8% | 2/261 |
| High, narrow palate | 0.8% | 2/261 |
| Mandibular prognathia | 0.8% | 2/261 |
| Misalignment of teeth | 0.8% | 2/261 |
| Protruding tongue | 0.8% | 2/261 |
| Abnormality of the gingiva | 0.4% | 1/261 |
| Abnormality of upper lip vermillion | 0.4% | 1/261 |
| Abnormality of mouth size | 0.4% | 1/261 |
| Abnormality of the tongue | 0.4% | 1/261 |
| Absent speech | 0.4% | 1/261 |
| Advanced eruption of teeth | 0.4% | 1/261 |
| Cleft soft palate | 0.4% | 1/261 |
| Conical tooth | 0.4% | 1/261 |
| Delayed eruption of teeth | 0.4% | 1/261 |
| Downturned corners of mouth | 0.4% | 1/261 |
| Everted upper lip vermilion | 0.4% | 1/261 |
| Excessive salivation | 0.4% | 1/261 |
| Growth delay | 0.4% | 1/261 |
| Hypoplasia of the primary teeth | 0.4% | 1/261 |
| Hypoplasia of teeth | 0.4% | 1/261 |
| Overbite | 0.4% | 1/261 |
| Pes planus | 0.4% | 1/261 |
| Prominent palatine ridges | 0.4% | 1/261 |
| Short chin | 0.4% | 1/261 |
| Small, conical teeth | 0.4% | 1/261 |
| Smooth philtrum | 0.4% | 1/261 |
| Submucous cleft lip | 0.4% | 1/261 |
| Submucous cleft soft palate | 0.4% | 1/261 |
| Thick vermilion border | 0.4% | 1/261 |
| Widely spaced primary teeth | 0.4% | 1/261 |
| Widely-spaced incisors | 0.4% | 1/261 |
| Visual and hearing impairments | ||
| Abnormal hearing | 29.3% | 73/249 |
| Hearing impairment | 12.0% | 30/249 |
| Glue ear | 7.6% | 19/249 |
| Conductive hearing impairment | 4.8% | 12/249 |
| Sensorineural hearing impairment | 1.6% | 4/249 |
| Bilateral sensorineural hearing impairment | 1.2% | 3/249 |
| Bilateral conductive hearing impairment | 1.2% | 3/249 |
| Moderate sensorineural hearing impairment | 1.2% | 3/249 |
| Severe sensorineural hearing impairment | 1.2% | 3/249 |
| Mild hearing impairment | 0.8% | 2/249 |
| Mild conductive hearing impairment | 0.8% | 2/249 |
| Recurrent otitis media | 0.8% | 2/249 |
| Unilateral conductive hearing impairment | 0.8% | 2/249 |
| Abnormality of the tympanic membrane | 0.4% | 1/249 |
| Abnormality of the middle ear | 0.4% | 1/249 |
| Hearing abnormality | 0.4% | 1/249 |
| Hyperacusis | 0.4% | 1/249 |
| Mixed hearing impairment | 0.4% | 1/249 |
| Moderate conductive hearing impairment | 0.4% | 1/249 |
| Otitis media | 0.4% | 1/249 |
| Progressive sensorineural hearing impairment | 0.4% | 1/249 |
| Severe hearing impairment | 0.4% | 1/249 |
| Unilateral | 0.4% | 1/249 |
| Abnormal vision | 54.5% | 128/235 |
| Myopia | 20.9% | 49/235 |
| Strabismus | 14.0% | 33/235 |
| Hypermetropia | 8.1% | 19/235 |
| Astigmatism | 7.7% | 18/235 |
| Visual impairment | 6.4% | 15/235 |
| Severe Myopia | 6.0% | 14/235 |
| Nystagmus | 4.3% | 10/235 |
| Abnormality of refraction | 3.0% | 7/235 |
| Exotropia | 2.6% | 6/235 |
| Unilateral strabismus | 1.3% | 3/235 |
| Abnormality of vision | 0.9% | 2/235 |
| Amblyopia | 0.9% | 2/235 |
| Coloboma | 0.9% | 2/235 |
| Glaucoma | 0.9% | 2/235 |
| Optic nerve hypoplasia | 0.9% | 2/235 |
| Abnormality of the optic disc | 0.4% | 1/235 |
| Abnormality of the lens | 0.4% | 1/235 |
| Blurred vision | 0.4% | 1/235 |
| Cataract | 0.4% | 1/235 |
| Congenital cataract | 0.4% | 1/235 |
| Corneal ulceration | 0.4% | 1/235 |
| Cortical visual impairment | 0.4% | 1/235 |
| Esotropia | 0.4% | 1/235 |
| Increased intraocular pressure | 0.4% | 1/235 |
| Keratoconus | 0.4% | 1/235 |
| Lattice corneal dystrophy | 0.4% | 1/235 |
| Optic nerve coloboma | 0.4% | 1/235 |
| Peripapillary chorioretinal atrophy | 0.4% | 1/235 |
| Severe visual impairment | 0.4% | 1/235 |
| Heart | ||
| Abnormality of the heart | 25.5% | 59/231 |
| Atria septal defect | 8.7% | 20/231 |
| Ventricular septal defect | 4.8% | 11/231 |
| Patent foramen ovale | 3.5% | 8/231 |
| Abnormality of the aortic valve | 1.3% | 3/231 |
| Heart murmur | 1.3% | 3/231 |
| Mitral regurgitation | 1.3% | 3/231 |
| Patent ductus arteriosus | 1.3% | 3/231 |
| Abnormality of the aortic arch | 0.9% | 2/231 |
| Abnormal heart morphology | 0.9% | 2/231 |
| Abnormality of the atrial septum | 0.9% | 2/231 |
| Bicuspid aortic valve | 0.9% | 2/231 |
| Coarctation of aorta | 0.9% | 2/231 |
| Secundum atrial septal defect | 0.9% | 2/231 |
| Abnormality of the cardiac septa | 0.4% | 1/231 |
| Abnormality of the left ventricle | 0.4% | 1/231 |
| Abnormality of the tricuspid valve | 0.4% | 1/231 |
| Abnormality of the pulmonary artery | 0.4% | 1/231 |
| Abnormality of the vena cava | 0.4% | 1/231 |
| Abnormality of the vasculature | 0.4% | 1/231 |
| Arrhythmia | 0.4% | 1/231 |
| Atrioventricular block | 0.4% | 1/231 |
| Atrioventricular canal defect | 0.4% | 1/231 |
| Bradycardia | 0.4% | 1/231 |
| Cardiomyopathy | 0.4% | 1/231 |
| Congestive heart failure | 0.4% | 1/231 |
| Cyanosis | 0.4% | 1/231 |
| Dilated cardiomyopathy | 0.4% | 1/231 |
| Hypoplastic left heart | 0.4% | 1/231 |
| Hypoxemia | 0.4% | 1/231 |
| Impaired left ventricular function | 0.4% | 1/231 |
| Left-to-right shunt | 0.4% | 1/231 |
| Non-restrictive ventricular septal defect | 0.4% | 1/231 |
| Primum atrial septal defect | 0.4% | 1/231 |
| Pulmonic stenosis | 0.4% | 1/231 |
| Right ventricular dilatation | 0.4% | 1/231 |
| Supraventricular arrhythmia | 0.4% | 1/231 |
| Ventricular extrasystoles | 0.4% | 1/231 |
| Pulmonary | ||
| Abnormality of the lungs | 27.1% | 16/59 |
| Asthma | 5.1% | 3/59 |
| Neonatal respiratory distress | 5.1% | 3/59 |
| Recurrent upper respiratory tract infections | 5.1% | 3/59 |
| Laryngomalacia | 3.4% | 2/59 |
| Recurrent respiratory infections | 3.4% | 2/59 |
| Central apnea | 1.7% | 1/59 |
| Chronic obstructive pulmonary disease | 1.7% | 1/59 |
| Laryngotracheomalacia | 1.7% | 1/59 |
| Neoplasm of the lung | 1.7% | 1/59 |
| Obstructive sleep apnea | 1.7% | 1/59 |
| Recurrent pneumonia | 1.7% | 1/59 |
| Recurrent bronchitis | 1.7% | 1/59 |
| Recurrent infections due to aspiration | 1.7% | 1/59 |
| Recurrent lower respiratory tract infections | 1.7% | 1/59 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 60.9% | 142/233 |
| Constipation | 20.2% | 47/233 |
| Feeding difficulties in infancy | 17.6% | 41/233 |
| Gastroesophageal reflux | 12.0% | 28/233 |
| Feeding difficulties | 10.7% | 25/233 |
| Umbilical hernia | 4.3% | 10/233 |
| Poor suck | 3.9% | 9/233 |
| Failure to thrive | 3.4% | 8/233 |
| Nasogastric tube feeding in infancy | 3.4% | 8/233 |
| Dysphagia | 3.0% | 7/233 |
| Diarrhea | 2.6% | 6/233 |
| Gastrostomy tube feeding in infancy | 2.6% | 6/233 |
| Inguinal hernia | 2.6% | 6/233 |
| Failure to thrive in infancy | 1.7% | 4/233 |
| Episodic vomiting | 1.3% | 3/233 |
| Gastroparesis | 1.3% | 3/233 |
| Laryngomalacia | 1.3% | 3/233 |
| Pyloric stenosis | 1.3% | 3/233 |
| Vomiting | 1.3% | 3/233 |
| Abnormality of the intestine | 0.9% | 2/233 |
| Anal fistula | 0.9% | 2/233 |
| Gastrointestinal dysmotility | 0.9% | 2/233 |
| Hernia of the abdominal wall | 0.9% | 2/233 |
| Intestinal malrotation | 0.9% | 2/233 |
| Lactose intolerance | 0.9% | 2/233 |
| Abnormal vascular physiology | 0.4% | 1/233 |
| Abnormality of the epiglottis | 0.4% | 1/233 |
| Abnormality of the gastrointestinal tract | 0.4% | 1/233 |
| Aganglionic megacolon | 0.4% | 1/233 |
| Anteriorly placed anus | 0.4% | 1/233 |
| Aspiration | 0.4% | 1/233 |
| Celiac disease | 0.4% | 1/233 |
| Cholelithiasis | 0.4% | 1/233 |
| Chronic constipation | 0.4% | 1/233 |
| Cow milk allergy | 0.4% | 1/233 |
| Dehydration | 0.4% | 1/233 |
| Esophageal stenosis | 0.4% | 1/233 |
| Esophagitis | 0.4% | 1/233 |
| Gastritis | 0.4% | 1/233 |
| Hepatosplenomegaly | 0.4% | 1/233 |
| Hiatus hernia | 0.4% | 1/233 |
| Hyperinsulinemia | 0.4% | 1/233 |
| Intestinal lymphangiectasia | 0.4% | 1/233 |
| Intestinal obstruction | 0.4% | 1/233 |
| Malnutrition | 0.4% | 1/233 |
| Pancreatitis | 0.4% | 1/233 |
| Ulcerative colitis | 0.4% | 1/233 |
| Urogenital | ||
| Abnormality of the urogenital system | 38.1% | 85/223 |
| Bilateral cryptorchidism | 13.5% | 30/223 |
| Unilateral cryptorchidism | 7.2% | 16/223 |
| Cryptorchidism | 6.7% | 15/223 |
| Nephrolithiasis | 2.7% | 6/223 |
| Hydronephrosis | 2.2% | 5/223 |
| Inguinal hernia | 1.8% | 4/223 |
| Retractile testis | 1.8% | 4/223 |
| Vesicoureteral reflux | 1.3% | 3/223 |
| Abnormality of the urinary system | 0.9% | 2/223 |
| Abnormality of the penis | 0.9% | 2/223 |
| Chronic kidney disease | 0.9% | 2/223 |
| Increased size of the clitoris | 0.9% | 2/223 |
| Scrotal hypoplasia | 0.9% | 2/223 |
| Abnormality of the kidney | 0.4% | 1/223 |
| Abnormality of the ureter | 0.4% | 1/223 |
| Abnormality of the testis | 0.4% | 1/223 |
| Abnormality of the urinary system physiology | 0.4% | 1/223 |
| Abnormal renal morphology | 0.4% | 1/223 |
| Aplasia of the upper vagina | 0.4% | 1/223 |
| Aplasia of the uterus | 0.4% | 1/223 |
| Clitoral hypertrophy | 0.4% | 1/223 |
| Decreased testicular size | 0.4% | 1/223 |
| Elevated serum creatinine | 0.4% | 1/223 |
| Enuresis nocturna | 0.4% | 1/223 |
| Functional abnormality of the bladder | 0.4% | 1/223 |
| Hydrocele testis | 0.4% | 1/223 |
| Hydroureter | 0.4% | 1/223 |
| Hypoplastic male external genitalia | 0.4% | 1/223 |
| Nephrotic syndrome | 0.4% | 1/223 |
| Nephrocalcinosis | 0.4% | 1/223 |
| Pelvic kidney | 0.4% | 1/223 |
| Proteinuria | 0.4% | 1/223 |
| Pyelonephritis | 0.4% | 1/223 |
| Renal duplication | 0.4% | 1/223 |
| Renal cyst | 0.4% | 1/223 |
| Renal dysplasia | 0.4% | 1/223 |
| Small scrotum | 0.4% | 1/223 |
| Stage 5 chronic kidney disease | 0.4% | 1/223 |
| Unilateral renal atrophy | 0.4% | 1/223 |
| Ureteral duplication | 0.4% | 1/223 |
| Urethral valve | 0.4% | 1/223 |
| Urinary retention | 0.4% | 1/223 |
| Webbed penis | 0.4% | 1/223 |
| Skeleton | ||
| Skeletal abnormalities | 87.6% | 227/259 |
| Scoliosis | 19.7% | 51/259 |
| Abnormality of the distal phalanx of the 5th finger | 15.1% | 39/259 |
| Clinodactyly | 11.2% | 29/259 |
| Prominent interphalangeal joints | 11.2% | 29/259 |
| Short distal phalanx of finger | 10.8% | 28/259 |
| Short 5th finger | 10.4% | 27/259 |
| Sandal gap | 9.3% | 24/259 |
| Joint laxity | 8.5% | 22/259 |
| Pes planus | 8.5% | 22/259 |
| Delayed skeletal maturation | 7.7% | 20/259 |
| Short phalanx of finger | 6.9% | 18/259 |
| Brachydactyly syndrome | 6.6% | 17/259 |
| Short stature | 6.2% | 16/259 |
| Long hallux | 5.4% | 14/259 |
| Abnormality of the sternum | 5.0% | 13/259 |
| Abnormality of the neck | 4.6% | 12/259 |
| Clinodactyly of the 5th finger | 3.9% | 10/259 |
| Plagiocephaly | 3.5% | 9/259 |
| Brachycephaly | 3.1% | 8/259 |
| Prominent fingertip pads | 3.1% | 8/259 |
| Dolichocephaly | 2.7% | 7/259 |
| Microcephaly | 2.7% | 7/259 |
| Frontal bossing | 2.3% | 6/259 |
| Patellar dislocation | 2.3% | 6/259 |
| Pectus excavatum | 2.3% | 6/259 |
| Arthritis | 1.9% | 5/259 |
| Hyperlordosis | 1.9% | 5/259 |
| Abnormality of the thumb | 1.5% | 4/259 |
| Broad thumb | 1.5% | 4/259 |
| Delayed eruption of permanent teeth | 1.5% | 4/259 |
| Short distal phalanx of the 5th finger | 1.5% | 4/259 |
| Broad hallux | 1.2% | 3/259 |
| Broad foot | 1.2% | 3/259 |
| Camptodactyly of finger | 1.2% | 3/259 |
| Cone-shaped epiphysis | 1.2% | 3/259 |
| Delayed eruption of teeth | 1.2% | 3/259 |
| Generalized hypotonia | 1.2% | 3/259 |
| Growth delay | 1.2% | 3/259 |
| Hallux valgus | 1.2% | 3/259 |
| Joint hypermobility | 1.2% | 3/259 |
| Kyphosis | 1.2% | 3/259 |
| Recurrent patellar dislocation | 1.2% | 3/259 |
| Short distal phalanx of toe | 1.2% | 3/259 |
| Short finger | 1.2% | 3/259 |
| Single transverse palmar crease | 1.2% | 3/259 |
| Widely spaced teeth | 1.2% | 3/259 |
| Abnormality of the distal phalanx of finger | 0.8% | 2/259 |
| Abnormal joint morphology | 0.8% | 2/259 |
| Accelerated skeletal maturation | 0.8% | 2/259 |
| Aplasia/Hypoplasia of the distal phalanges of the hand | 0.8% | 2/259 |
| Aplasia/Hypoplasia of the phalanges of the hand | 0.8% | 2/259 |
| Broad phalanges of the hand | 0.8% | 2/259 |
| Broad phalanx of the toes | 0.8% | 2/259 |
| Broad hallux phalanx | 0.8% | 2/259 |
| Broad distal phalanx of finger | 0.8% | 2/259 |
| Central hypotonia | 0.8% | 2/259 |
| Congenital hip dislocation | 0.8% | 2/259 |
| Curved phalanges of the 5th finger | 0.8% | 2/259 |
| Curved phalanges of the 2nd finger | 0.8% | 2/259 |
| Delayed eruption of primary teeth | 0.8% | 2/259 |
| Genu valgum | 0.8% | 2/259 |
| Hypodontia | 0.8% | 2/259 |
| Misalignment of teeth | 0.8% | 2/259 |
| Short foot | 0.8% | 2/259 |
| Short middle phalanx of the 5th finger | 0.8% | 2/259 |
| Short metatarsal | 0.8% | 2/259 |
| Short neck | 0.8% | 2/259 |
| Short toe | 0.8% | 2/259 |
| Short metacarpal | 0.8% | 2/259 |
| Small hand | 0.8% | 2/259 |
| Triphalangeal thumb | 0.8% | 2/259 |
| Valgus foot deformity | 0.8% | 2/259 |
| Wide intermamillary distance | 0.8% | 2/259 |
| Abnormality of the occipital bone | 0.4% | 1/259 |
| Abnormality of the teeth | 0.4% | 1/259 |
| Abnormality of the hip bone | 0.4% | 1/259 |
| Abnormality of the scapula | 0.4% | 1/259 |
| Abnormality of the tarsal bones | 0.4% | 1/259 |
| Abnormality of the vertebrae | 0.4% | 1/259 |
| Abnormality of the 4th metacarpal | 0.4% | 1/259 |
| Abnormality of the 5th metacarpal | 0.4% | 1/259 |
| Abnormality of muscle physiology | 0.4% | 1/259 |
| Abnormal metacarpal morphology | 0.4% | 1/259 |
| Abnormal cervical curvature | 0.4% | 1/259 |
| Abnormality of the calvaria | 0.4% | 1/259 |
| Abnormality of the phalanges of the 5th finger | 0.4% | 1/259 |
| Adducted thumb | 0.4% | 1/259 |
| Aplasia/Hypoplasia of the 2nd finger | 0.4% | 1/259 |
| Aplasia/Hypoplasia of the phalanges of the 5th toe | 0.4% | 1/259 |
| Aplasia/Hypoplasia of the distal phalanges of the toes | 0.4% | 1/259 |
| Aplasia/Hypoplasia of fingers | 0.4% | 1/259 |
| Aplasia/Hypoplasia of the nails | 0.4% | 1/259 |
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger | 0.4% | 1/259 |
| Bilateral elbow dislocations | 0.4% | 1/259 |
| Broad distal phalanges of all fingers | 0.4% | 1/259 |
| Broad distal hallux | 0.4% | 1/259 |
| Broad toe | 0.4% | 1/259 |
| Broad palm | 0.4% | 1/259 |
| Camptodactyly | 0.4% | 1/259 |
| Carious teeth | 0.4% | 1/259 |
| Clinodactyly of the 4th finger | 0.4% | 1/259 |
| Clinodactyly of the 5th toe | 0.4% | 1/259 |
| Coronal craniosynostosis | 0.4% | 1/259 |
| Curved thumb phalanx | 0.4% | 1/259 |
| Curved phalanges of the 4th finger | 0.4% | 1/259 |
| Curved hallux phalanx | 0.4% | 1/259 |
| Deep plantar creases | 0.4% | 1/259 |
| Dental crowding | 0.4% | 1/259 |
| Difficulty walking | 0.4% | 1/259 |
| Dysharmonic delayed bone age | 0.4% | 1/259 |
| Elbow dislocation | 0.4% | 1/259 |
| Flat occiput | 0.4% | 1/259 |
| Gingival overgrowth | 0.4% | 1/259 |
| Hip dislocation | 0.4% | 1/259 |
| Hypertrichosis | 0.4% | 1/259 |
| Inguinal hernia | 0.4% | 1/259 |
| Joint dislocation | 0.4% | 1/259 |
| Kyphoscoliosis | 0.4% | 1/259 |
| Lambdoidal craniosynostosis | 0.4% | 1/259 |
| Limited elbow extension | 0.4% | 1/259 |
| Long toe | 0.4% | 1/259 |
| Long fingers | 0.4% | 1/259 |
| Long distal phalanx of finger | 0.4% | 1/259 |
| Lower limb pain | 0.4% | 1/259 |
| Macrocephaly at birth | 0.4% | 1/259 |
| Macrocephaly | 0.4% | 1/259 |
| Metatarsus adductus | 0.4% | 1/259 |
| Micrognathia | 0.4% | 1/259 |
| Microdontia | 0.4% | 1/259 |
| Mild short stature | 0.4% | 1/259 |
| Muscle weakness | 0.4% | 1/259 |
| Oligodontia | 0.4% | 1/259 |
| Overbite | 0.4% | 1/259 |
| Overlapping toe | 0.4% | 1/259 |
| Patellar hypoplasia | 0.4% | 1/259 |
| Pes cavus | 0.4% | 1/259 |
| Positional foot deformity | 0.4% | 1/259 |
| Posterior plagiocephaly | 0.4% | 1/259 |
| Proximal placement of thumb | 0.4% | 1/259 |
| Rhizomelia | 0.4% | 1/259 |
| Rhizomelic arm shortening | 0.4% | 1/259 |
| Rhizomelic leg shortening | 0.4% | 1/259 |
| Rocker bottom foot | 0.4% | 1/259 |
| Sacral dimple | 0.4% | 1/259 |
| Short phalanx of the 5th toe | 0.4% | 1/259 |
| Short hallux | 0.4% | 1/259 |
| Shortening of all phalanges of the toes | 0.4% | 1/259 |
| Shortening of all distal phalanges of the fingers | 0.4% | 1/259 |
| Shortening of all phalanges of fingers | 0.4% | 1/259 |
| Shortening of all distal phalanges of the toes | 0.4% | 1/259 |
| Short 5th toe | 0.4% | 1/259 |
| Short 4th metacarpal | 0.4% | 1/259 |
| Short sternum | 0.4% | 1/259 |
| Short 5th metacarpal | 0.4% | 1/259 |
| Sparse scalp hair | 0.4% | 1/259 |
| Spondylolysis | 0.4% | 1/259 |
| Symphalangism affecting the phalanges of the 5th toe | 0.4% | 1/259 |
| Talipes valgus | 0.4% | 1/259 |
| Thick hair | 0.4% | 1/259 |
| Thoracic scoliosis | 0.4% | 1/259 |
| Toe syndactyly | 0.4% | 1/259 |
| Toe walking | 0.4% | 1/259 |
| Valgus hand deformity | 0.4% | 1/259 |
| 2-3 toe syndactyly | 0.4% | 1/259 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 93.1% | 243/261 |
| Hypertrichosis | 53.3% | 139/261 |
| Sparse scalp hair | 34.9% | 91/261 |
| Low anterior hairline | 27.2% | 71/261 |
| Hypoplastic fifth fingernail | 18.8% | 49/261 |
| Thick hair | 15.7% | 41/261 |
| Prominent fingertip pads | 12.6% | 33/261 |
| Low posterior hairline | 10.0% | 26/261 |
| Eczema | 8.8% | 23/261 |
| Generalized hypertrichosis | 7.7% | 20/261 |
| Small nail | 7.3% | 19/261 |
| Hypoplastic fifth toenail | 6.1% | 16/261 |
| Hypoplastic toenails | 4.6% | 12/261 |
| Atopic dermatitis | 4.2% | 11/261 |
| Fine hair | 4.2% | 11/261 |
| Hyperhidrosis | 4.2% | 11/261 |
| Wide intermamillary distance | 3.8% | 10/261 |
| Hypoplastic fingernail | 3.4% | 9/261 |
| Single transverse palmar crease | 3.1% | 8/261 |
| Nevus | 2.7% | 7/261 |
| Abnormality of the nail | 2.3% | 6/261 |
| Slow-growing nails | 1.9% | 5/261 |
| Abnormality of the scalp hair | 1.5% | 4/261 |
| Cafe-au-lait spot | 1.5% | 4/261 |
| Excessive wrinkled skin | 1.5% | 4/261 |
| Hyperpigmentation of the skin | 1.5% | 4/261 |
| Aplasia/Hypoplasia of the nails | 1.1% | 3/261 |
| Coarse hair | 1.1% | 3/261 |
| Cutis marmorata | 1.1% | 3/261 |
| Hyperkeratosis | 1.1% | 3/261 |
| Short distal phalanx of finger | 1.1% | 3/261 |
| Sparse hair | 1.1% | 3/261 |
| Thin nail | 1.1% | 3/261 |
| Thin fingernail | 1.1% | 3/261 |
| Thoracic hypertrichosis | 1.1% | 3/261 |
| Abnormally lax or hyperextensible skin | 0.8% | 2/261 |
| Bilateral single transverse palmar creases | 0.8% | 2/261 |
| Deep palmar crease | 0.8% | 2/261 |
| Facial hypertrichosis | 0.8% | 2/261 |
| Few cafe-au-lait spots | 0.8% | 2/261 |
| Hemangioma | 0.8% | 2/261 |
| Hypopigmentation of the skin | 0.8% | 2/261 |
| Jaundice | 0.8% | 2/261 |
| Melanocytic nevus | 0.8% | 2/261 |
| Numerous nevi | 0.8% | 2/261 |
| Sacral dimple | 0.8% | 2/261 |
| Short nail | 0.8% | 2/261 |
| Thickened skin | 0.8% | 2/261 |
| Abnormal position of hair whorl | 0.4% | 1/261 |
| Abnormality of the hair | 0.4% | 1/261 |
| Abnormality of hair growth rate | 0.4% | 1/261 |
| Abnormality of the distal phalanx of the 5th finger | 0.4% | 1/261 |
| Abnormality of the palmar creases | 0.4% | 1/261 |
| Abnormality of hair growth | 0.4% | 1/261 |
| Abnormality of the toenails | 0.4% | 1/261 |
| Absent fifth fingernail | 0.4% | 1/261 |
| Absent fifth toenail | 0.4% | 1/261 |
| Acanthosis nigricans | 0.4% | 1/261 |
| Alopecia | 0.4% | 1/261 |
| Alopecia of scalp | 0.4% | 1/261 |
| Aplastic/hypoplastic toenail | 0.4% | 1/261 |
| Broad distal phalanx of the 4th toe | 0.4% | 1/261 |
| Clinodactyly of the 5th finger | 0.4% | 1/261 |
| Clinodactyly | 0.4% | 1/261 |
| Clubbing | 0.4% | 1/261 |
| Congenital giant melanocytic nevus | 0.4% | 1/261 |
| Congenital, generalized hypertrichosis | 0.4% | 1/261 |
| Curly hair | 0.4% | 1/261 |
| Depigmentation/hyperpigmentation of skin | 0.4% | 1/261 |
| Elbow hypertrichosis | 0.4% | 1/261 |
| Facial hirsutism | 0.4% | 1/261 |
| Frontal hirsutism | 0.4% | 1/261 |
| High anterior hairline | 0.4% | 1/261 |
| Hirsutism | 0.4% | 1/261 |
| Hyperextensible skin | 0.4% | 1/261 |
| Increased body weight | 0.4% | 1/261 |
| Irregular hyperpigmentation | 0.4% | 1/261 |
| Localized skin lesion | 0.4% | 1/261 |
| Localized hirsutism | 0.4% | 1/261 |
| Multiple cafe-au-lait spots | 0.4% | 1/261 |
| Neoplasm of the skin | 0.4% | 1/261 |
| Pallor | 0.4% | 1/261 |
| Papule | 0.4% | 1/261 |
| Polyhydramnios | 0.4% | 1/261 |
| Premature skin wrinkling | 0.4% | 1/261 |
| Pressure ulcer | 0.4% | 1/261 |
| Red hair | 0.4% | 1/261 |
| Sacral hypertrichosis | 0.4% | 1/261 |
| Short 5th finger | 0.4% | 1/261 |
| Skin tags | 0.4% | 1/261 |
| Slow-growing hair | 0.4% | 1/261 |
| Slow-growing scalp hair | 0.4% | 1/261 |
| Sparse eyebrow | 0.4% | 1/261 |
| Spotty hyperpigmentation | 0.4% | 1/261 |
| Striae distensae | 0.4% | 1/261 |
| Thick eyebrow | 0.4% | 1/261 |
| Thin toenail | 0.4% | 1/261 |
| Urticaria | 0.4% | 1/261 |
| Vitiligo | 0.4% | 1/261 |
| Webbed neck | 0.4% | 1/261 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 17.5% | 35/200 |
| Hypothyroidism | 6.5% | 13/200 |
| Growth hormone deficiency | 5.0% | 10/200 |
| Type II diabetes mellitus | 1.5% | 3/200 |
| Compensated hypothyroidism | 1.0% | 2/200 |
| Diabetes mellitus | 1.0% | 2/200 |
| Abnormality of the thyroid gland | 0.5% | 1/200 |
| Abnormality of thyroid physiology | 0.5% | 1/200 |
| Central hypothyroidism | 0.5% | 1/200 |
| Congenital hypothyroidism | 0.5% | 1/200 |
| Decreased circulating cortisol level | 0.5% | 1/200 |
| Delayed puberty | 0.5% | 1/200 |
| Elevated circulating parathyroid hormone (PTH) level | 0.5% | 1/200 |
| Gynecomastia | 0.5% | 1/200 |
| Increased serum free triiodothyronine (fT3) | 0.5% | 1/200 |
| Increased circulating androgen level | 0.5% | 1/200 |
| Precocious puberty | 0.5% | 1/200 |
| Puberty and gonadal disorders | 0.5% | 1/200 |
| Type I diabetes mellitus | 0.5% | 1/200 |
| Abnormality of the metabolic system | 8.0% | 16/201 |
| Hypercholesterolemia | 1.0% | 2/201 |
| Hypocalcemia | 1.0% | 2/201 |
| Anemia | 0.5% | 1/201 |
| Diabetes mellitus | 0.5% | 1/201 |
| Hypercalciuria | 0.5% | 1/201 |
| Hyperinsulinemia | 0.5% | 1/201 |
| Hypercalcemia | 0.5% | 1/201 |
| Hyperammonemia | 0.5% | 1/201 |
| Hyperglycemia | 0.5% | 1/201 |
| Hypomagnesemia | 0.5% | 1/201 |
| Methylmalonic acidemia | 0.5% | 1/201 |
| Muscle abnormality related to mitochondrial dysfunction | 0.5% | 1/201 |
| Neonatal hypoglycemia | 0.5% | 1/201 |
| Obesity | 0.5% | 1/201 |
| Type I diabetes mellitus | 0.5% | 1/201 |
| Vitamin B12 deficiency | 0.5% | 1/201 |
| Abnormality of the immune system | 32.3% | 73/226 |
| Recurrent infections | 11.5% | 26/226 |
| Recurrent otitis media | 8.0% | 18/226 |
| Recurrent upper respiratory tract infections | 6.6% | 15/226 |
| Recurrent respiratory infections | 1.8% | 4/226 |
| Eczema | 1.3% | 3/226 |
| Recurrent urinary tract infections | 1.3% | 3/226 |
| Recurrent lower respiratory tract infections | 1.3% | 3/226 |
| Respiratory infections in early life | 1.3% | 3/226 |
| Allergy | 0.9% | 2/226 |
| Chronic otitis media | 0.9% | 2/226 |
| Conjunctivitis | 0.9% | 2/226 |
| Asthma | 0.4% | 1/226 |
| Bronchiolitis | 0.4% | 1/226 |
| Decreased antibody level in blood | 0.4% | 1/226 |
| Eosinophilia | 0.4% | 1/226 |
| Lymphopenia | 0.4% | 1/226 |
| Otitis media | 0.4% | 1/226 |
| Panhypogammaglobulinemia | 0.4% | 1/226 |
| Recurrent upper and lower respiratory tract infections | 0.4% | 1/226 |
| Recurrent bronchopulmonary infections | 0.4% | 1/226 |
| Recurrent bronchitis | 0.4% | 1/226 |
| Recurrent infections of the middle ear | 0.4% | 1/226 |
| Respiratory tract infection | 0.4% | 1/226 |
| Seasonal allergy | 0.4% | 1/226 |
| Small vessel vasculitis | 0.4% | 1/226 |
| Neoplasia | ||
| Neoplasia | 0.7% | 2/269 |
| Abnormality of the lung | 0.4% | 1/269 |
| Brain neoplasm | 0.4% | 1/269 |
| Leydig cell neoplasia | 0.4% | 1/269 |
| Sertoli cell neoplasm | 0.4% | 1/269 |