ARID1B
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 52.9% | 157/297 |
| Female | 47.1% | 140/297 |
| Indifferent | 0% | 0/297 |
| Unknown | 0% | 0/297 |
| General | ||
| Birth Length abnormalities | 7.0% | 15/215 |
| < P3 : Birth length less than 3rd percentile | 5.6% | 12/215 |
| > P98 : Birth length greater than 97th percentile | 1.4% | 3/215 |
| Birth Weight abnormalities | 8.3% | 24/289 |
| < P3 : Small for gestational age | 7.6% | 22/289 |
| > P98 : Large for gestational age | 0.7% | 2/289 |
| Birth Head circumference abnormalities | 7.0% | 16/229 |
| > P98 : Macrocephaly at birth | 1.3% | 3/229 |
| < P3 : Primary microcephaly | 5.7% | 13/229 |
| Current Height abnormalities | 25.4% | 72/283 |
| < P3 : Short stature | 25.1% | 71/283 |
| > P98 : Tall stature | 0.4% | 1/283 |
| Current Weight abnormalities | 16.9% | 43/254 |
| > P98 : Increased body weight | 8.3% | 21/254 |
| < P3 : Decreased body weight | 8.7% | 22/254 |
| Current Head circumference abnormalities | 7.7% | 21/274 |
| > P98 : Macrocephaly | 2.6% | 7/274 |
| < P3 : Microcephaly | 5.1% | 14/274 |
| Neurology | ||
| Neurological abnormalities | 85.3% | 227/266 |
| Hypotonia | 30.5% | 81/266 |
| Generalized hypotonia | 18.0% | 48/266 |
| Seizure | 15.4% | 41/266 |
| Neonatal hypotonia | 9.4% | 25/266 |
| Bilateral tonic-clonic seizure | 7.9% | 21/266 |
| Impaired pain sensation | 6.8% | 18/266 |
| Febrile seizure (within the age range of 3 months to 6 years) | 4.5% | 12/266 |
| Generalized non-motor (absence) seizure | 4.1% | 11/266 |
| Developmental regression | 3.8% | 10/266 |
| EEG abnormality | 3.4% | 9/266 |
| obsolete Central hypotonia | 3.4% | 9/266 |
| Astereognosis | 3.0% | 8/266 |
| Impaired visuospatial constructive cognition | 3.0% | 8/266 |
| Visual agnosia | 3.0% | 8/266 |
| Focal impaired awareness seizure | 2.6% | 7/266 |
| Abnormality of pain sensation | 2.3% | 6/266 |
| Gait ataxia | 2.3% | 6/266 |
| Hypertonia | 2.3% | 6/266 |
| Generalized tonic seizure | 1.9% | 5/266 |
| Motor delay | 1.5% | 4/266 |
| Atonic seizure | 1.1% | 3/266 |
| Hyperreflexia | 1.1% | 3/266 |
| Abnormal nervous system physiology | 0.8% | 2/266 |
| Axial hypotonia | 0.8% | 2/266 |
| Broad-based gait | 0.8% | 2/266 |
| Cerebral palsy | 0.8% | 2/266 |
| Colpocephaly | 0.8% | 2/266 |
| Delayed myelination | 0.8% | 2/266 |
| Focal-onset seizure | 0.8% | 2/266 |
| Focal aware seizure | 0.8% | 2/266 |
| Gait disturbance | 0.8% | 2/266 |
| Generalized myoclonic seizure | 0.8% | 2/266 |
| Generalized-onset seizure | 0.8% | 2/266 |
| Headache | 0.8% | 2/266 |
| Lower limb hyperreflexia | 0.8% | 2/266 |
| Lower limb hypertonia | 0.8% | 2/266 |
| Poor fine motor coordination | 0.8% | 2/266 |
| Unsteady gait | 0.8% | 2/266 |
| Upper limb hypertonia | 0.8% | 2/266 |
| Abnormal corpus callosum morphology | 0.4% | 1/266 |
| Abnormal subarachnoid space morphology | 0.4% | 1/266 |
| Agenesis of corpus callosum | 0.4% | 1/266 |
| Anomic aphasia | 0.4% | 1/266 |
| Ataxia | 0.4% | 1/266 |
| Borderline intellectual disability | 0.4% | 1/266 |
| Central sleep apnea | 0.4% | 1/266 |
| Chorea | 0.4% | 1/266 |
| Dysarthria | 0.4% | 1/266 |
| Dysdiadochokinesis | 0.4% | 1/266 |
| Dyskinesia | 0.4% | 1/266 |
| Dysmetria | 0.4% | 1/266 |
| Dysplastic corpus callosum | 0.4% | 1/266 |
| Dystonia | 0.4% | 1/266 |
| Exercise intolerance | 0.4% | 1/266 |
| Facial paralysis | 0.4% | 1/266 |
| Floppy infant | 0.4% | 1/266 |
| Gait imbalance | 0.4% | 1/266 |
| Gait apraxia | 0.4% | 1/266 |
| Global developmental delay | 0.4% | 1/266 |
| Hand tremor | 0.4% | 1/266 |
| Involuntary movements | 0.4% | 1/266 |
| Muscle weakness | 0.4% | 1/266 |
| Myoclonus | 0.4% | 1/266 |
| obsolete Infantile axial hypotonia | 0.4% | 1/266 |
| Oromandibular dystonia | 0.4% | 1/266 |
| Pain insensitivity | 0.4% | 1/266 |
| Partial agenesis of the corpus callosum | 0.4% | 1/266 |
| Poor gross motor coordination | 0.4% | 1/266 |
| Posterior fossa cyst | 0.4% | 1/266 |
| Postural instability | 0.4% | 1/266 |
| Somatic sensory dysfunction | 0.4% | 1/266 |
| Stroke | 0.4% | 1/266 |
| Torticollis | 0.4% | 1/266 |
| Widened subarachnoid space | 0.4% | 1/266 |
| Behavioral problems | 72.1% | 173/240 |
| Autistic behavior | 31.3% | 75/240 |
| Hyperactivity | 19.6% | 47/240 |
| Attention deficit hyperactivity disorder | 13.8% | 33/240 |
| Autism | 13.8% | 33/240 |
| Short attention span | 12.5% | 30/240 |
| obsolete Impaired social interactions | 9.2% | 22/240 |
| Aggressive behavior | 7.1% | 17/240 |
| Motor stereotypy | 6.7% | 16/240 |
| Abnormal fear-induced behavior | 6.3% | 15/240 |
| Anxiety | 5.4% | 13/240 |
| Compulsive behaviors | 5.4% | 13/240 |
| Impulsivity | 5.0% | 12/240 |
| Abnormal social behavior | 4.6% | 11/240 |
| Hyperkinetic movements | 4.2% | 10/240 |
| Atypical behavior | 3.3% | 8/240 |
| Obsessive-compulsive trait | 2.5% | 6/240 |
| Reduced social responsiveness | 2.5% | 6/240 |
| Abnormal emotional state | 1.7% | 4/240 |
| Drooling | 1.7% | 4/240 |
| obsolete Abnormal aggressive, impulsive or violent behavior | 1.7% | 4/240 |
| Self-injurious behavior | 1.7% | 4/240 |
| Inflexible adherence to routines | 1.3% | 3/240 |
| Reduced eye contact | 1.3% | 3/240 |
| Repetitive compulsive behavior | 1.3% | 3/240 |
| Sleep disturbance | 1.3% | 3/240 |
| Absent speech | 0.8% | 2/240 |
| Emotional lability | 0.8% | 2/240 |
| Hyperacusis | 0.8% | 2/240 |
| Oral aversion | 0.8% | 2/240 |
| Self-mutilation | 0.8% | 2/240 |
| Abnormal nervous system physiology | 0.4% | 1/240 |
| Agoraphobia | 0.4% | 1/240 |
| Bruxism | 0.4% | 1/240 |
| Clumsiness | 0.4% | 1/240 |
| Developmental regression | 0.4% | 1/240 |
| Excessive shyness | 0.4% | 1/240 |
| Facial tics | 0.4% | 1/240 |
| Hair-pulling | 0.4% | 1/240 |
| Happy demeanor | 0.4% | 1/240 |
| Head-banging | 0.4% | 1/240 |
| Impaired pain sensation | 0.4% | 1/240 |
| Lack of insight | 0.4% | 1/240 |
| Nail-biting | 0.4% | 1/240 |
| Overfriendliness | 0.4% | 1/240 |
| Pain insensitivity | 0.4% | 1/240 |
| Personality disorder | 0.4% | 1/240 |
| Phonophobia | 0.4% | 1/240 |
| Polyphagia | 0.4% | 1/240 |
| Profound intellectual disability | 0.4% | 1/240 |
| Reduced ability to form peer relationships | 0.4% | 1/240 |
| Restlessness | 0.4% | 1/240 |
| Restrictive behavior | 0.4% | 1/240 |
| Rigidity | 0.4% | 1/240 |
| Social and occupational deterioration | 0.4% | 1/240 |
| Violent behavior | 0.4% | 1/240 |
| Brain abnormality | 71.5% | 158/221 |
| Agenesis of corpus callosum | 19.9% | 44/221 |
| Partial agenesis of the corpus callosum | 10.4% | 23/221 |
| Hypoplasia of the corpus callosum | 8.1% | 18/221 |
| Delayed myelination | 7.2% | 16/221 |
| Colpocephaly | 5.9% | 13/221 |
| Aplasia/Hypoplasia of the corpus callosum | 4.5% | 10/221 |
| Enlarged cisterna magna | 4.5% | 10/221 |
| Ventriculomegaly | 4.1% | 9/221 |
| Abnormal corpus callosum morphology | 3.6% | 8/221 |
| Thick corpus callosum | 3.6% | 8/221 |
| Short corpus callosum | 3.2% | 7/221 |
| Arachnoid cyst | 2.7% | 6/221 |
| Cerebellar cyst | 2.7% | 6/221 |
| Dysplastic corpus callosum | 2.7% | 6/221 |
| Retrocerebellar cyst | 2.7% | 6/221 |
| Chiari type I malformation | 2.3% | 5/221 |
| Intracranial cystic lesion | 2.3% | 5/221 |
| Cerebral atrophy | 1.8% | 4/221 |
| Cerebellar hypoplasia | 1.4% | 3/221 |
| Cortical dysplasia | 1.4% | 3/221 |
| Gray matter heterotopia | 1.4% | 3/221 |
| Hydrocephalus | 1.4% | 3/221 |
| Abnormal forebrain morphology | 0.9% | 2/221 |
| Abnormal lateral ventricle morphology | 0.9% | 2/221 |
| Abnormal basal ganglia MRI signal intensity | 0.9% | 2/221 |
| Abnormal cerebral white matter morphology | 0.9% | 2/221 |
| Absent septum pellucidum | 0.9% | 2/221 |
| Aplasia/Hypoplasia of the cerebrum | 0.9% | 2/221 |
| Attention deficit hyperactivity disorder | 0.9% | 2/221 |
| Cerebral hypoplasia | 0.9% | 2/221 |
| Choroid plexus cyst | 0.9% | 2/221 |
| Dilation of Virchow-Robin spaces | 0.9% | 2/221 |
| Lambdoidal craniosynostosis | 0.9% | 2/221 |
| Sagittal craniosynostosis | 0.9% | 2/221 |
| Abnormal subarachnoid space morphology | 0.5% | 1/221 |
| Abnormal cerebral vein morphology | 0.5% | 1/221 |
| Abnormal cerebral ventricle morphology | 0.5% | 1/221 |
| Abnormal corpus cavernosum morphology | 0.5% | 1/221 |
| Abnormal midbrain morphology | 0.5% | 1/221 |
| Abnormal morphology of the limbic system | 0.5% | 1/221 |
| Abnormal choroid morphology | 0.5% | 1/221 |
| Abnormal periventricular white matter morphology | 0.5% | 1/221 |
| Abnormal cerebellum morphology | 0.5% | 1/221 |
| Abnormal length of corpus callosum | 0.5% | 1/221 |
| Abnormal optic nerve morphology | 0.5% | 1/221 |
| Abnormal thalamic MRI signal intensity | 0.5% | 1/221 |
| Abnormal brainstem MRI signal intensity | 0.5% | 1/221 |
| Abnormal cortical gyration | 0.5% | 1/221 |
| Abnormal cerebral cortex morphology | 0.5% | 1/221 |
| Abnormal pons morphology | 0.5% | 1/221 |
| Abnormality of neuronal migration | 0.5% | 1/221 |
| Abnormal posterior cranial fossa morphology | 0.5% | 1/221 |
| Abnormal vestibulocochlear nerve morphology | 0.5% | 1/221 |
| Aplasia/Hypoplasia involving the central nervous system | 0.5% | 1/221 |
| Aplasia of the falx cerebri | 0.5% | 1/221 |
| Bilateral intracerebral calcifications | 0.5% | 1/221 |
| Brain atrophy | 0.5% | 1/221 |
| Cavum septum pellucidum | 0.5% | 1/221 |
| Cerebellar dysplasia | 0.5% | 1/221 |
| Cerebellar agenesis | 0.5% | 1/221 |
| Dandy-Walker malformation | 0.5% | 1/221 |
| Delayed CNS myelination | 0.5% | 1/221 |
| Encephalopathy | 0.5% | 1/221 |
| Enlarged fetal cisterna magna | 0.5% | 1/221 |
| Hypodysplasia of the corpus callosum | 0.5% | 1/221 |
| Hypoplastic anterior commissure | 0.5% | 1/221 |
| Hypoplasia of the brainstem | 0.5% | 1/221 |
| Hypoplastic olfactory lobes | 0.5% | 1/221 |
| Hypoplasia of the pons | 0.5% | 1/221 |
| Inferior cerebellar vermis hypoplasia | 0.5% | 1/221 |
| Lateral ventricle dilatation | 0.5% | 1/221 |
| Lateral ventricular asymmetry | 0.5% | 1/221 |
| Microcephaly | 0.5% | 1/221 |
| Midline central nervous system lipomas | 0.5% | 1/221 |
| Multiple suture craniosynostosis | 0.5% | 1/221 |
| Neonatal hypotonia | 0.5% | 1/221 |
| Neoplasm of the central nervous system | 0.5% | 1/221 |
| Pachygyria | 0.5% | 1/221 |
| Polymicrogyria | 0.5% | 1/221 |
| Prominent supraorbital ridges | 0.5% | 1/221 |
| Relative macrocephaly | 0.5% | 1/221 |
| Seizure | 0.5% | 1/221 |
| Subarachnoid hemorrhage | 0.5% | 1/221 |
| Syringomyelia | 0.5% | 1/221 |
| Talipes calcaneovarus | 0.5% | 1/221 |
| Facial abnormalities | ||
| Abnormality of the ear | 61.6% | 157/255 |
| Low-set ears | 15.3% | 39/255 |
| Abnormality of the ear | 11.0% | 28/255 |
| Abnormal pinna morphology | 9.0% | 23/255 |
| obsolete Low-set, posteriorly rotated ears | 7.8% | 20/255 |
| Posteriorly rotated ears | 7.5% | 19/255 |
| Protruding ear | 4.7% | 12/255 |
| Macrotia | 4.3% | 11/255 |
| Abnormality of the outer ear | 3.5% | 9/255 |
| Uplifted earlobe | 3.5% | 9/255 |
| obsolete External ear malformation | 2.4% | 6/255 |
| Overfolded helix | 2.4% | 6/255 |
| Preauricular pit | 2.0% | 5/255 |
| Cupped ear | 1.6% | 4/255 |
| Forward facing earlobe | 1.2% | 3/255 |
| Small earlobe | 1.2% | 3/255 |
| Thickened helices | 1.2% | 3/255 |
| Underdeveloped superior crus of antihelix | 1.2% | 3/255 |
| Abnormal earlobe morphology | 0.8% | 2/255 |
| Abnormal location of ears | 0.8% | 2/255 |
| Cholesteatoma | 0.8% | 2/255 |
| Abnormal periauricular region morphology | 0.4% | 1/255 |
| Absent earlobe | 0.4% | 1/255 |
| Asymmetry of the ears | 0.4% | 1/255 |
| Cleft helix | 0.4% | 1/255 |
| Darwin tubercle of helix | 0.4% | 1/255 |
| Glue ear | 0.4% | 1/255 |
| Large earlobe | 0.4% | 1/255 |
| Long ear | 0.4% | 1/255 |
| Long eyelashes | 0.4% | 1/255 |
| Microtia | 0.4% | 1/255 |
| Mild hearing impairment | 0.4% | 1/255 |
| obsolete Recurrent infections of the middle ear | 0.4% | 1/255 |
| Periauricular skin pits | 0.4% | 1/255 |
| Prominent ear helix | 0.4% | 1/255 |
| Prominent crus of helix | 0.4% | 1/255 |
| Recurrent otitis media | 0.4% | 1/255 |
| Satyr ear | 0.4% | 1/255 |
| Squared superior portion of helix | 0.4% | 1/255 |
| Thick eyebrow | 0.4% | 1/255 |
| Underdeveloped nasal alae | 0.4% | 1/255 |
| Abnormality of the eye | 86.7% | 229/264 |
| Thick eyebrow | 56.4% | 149/264 |
| Long eyelashes | 45.5% | 120/264 |
| Downslanted palpebral fissures | 14.4% | 38/264 |
| Ptosis | 8.0% | 21/264 |
| Synophrys | 8.0% | 21/264 |
| Hypertelorism | 6.4% | 17/264 |
| Periorbital wrinkles | 6.4% | 17/264 |
| Upslanted palpebral fissure | 6.1% | 16/264 |
| Epicanthus | 5.3% | 14/264 |
| Long palpebral fissure | 4.2% | 11/264 |
| Abnormal lacrimal duct morphology | 3.8% | 10/264 |
| Bilateral ptosis | 3.0% | 8/264 |
| Highly arched eyebrow | 2.7% | 7/264 |
| Narrow palpebral fissure | 2.7% | 7/264 |
| Prominent eyelashes | 2.7% | 7/264 |
| Strabismus | 2.7% | 7/264 |
| Unilateral ptosis | 2.3% | 6/264 |
| Facial wrinkling | 1.9% | 5/264 |
| Short palpebral fissure | 1.9% | 5/264 |
| obsolete Sparse and thin eyebrow | 1.1% | 3/264 |
| Proptosis | 1.1% | 3/264 |
| Abnormal nasolacrimal system morphology | 0.8% | 2/264 |
| Abnormality of the periorbital region | 0.8% | 2/264 |
| Decreased lacrimation | 0.8% | 2/264 |
| Esotropia | 0.8% | 2/264 |
| Horizontal nystagmus | 0.8% | 2/264 |
| Nasolacrimal duct obstruction | 0.8% | 2/264 |
| Abnormal eyelash morphology | 0.4% | 1/264 |
| Axial hypotonia | 0.4% | 1/264 |
| Blue sclerae | 0.4% | 1/264 |
| Broad forehead | 0.4% | 1/264 |
| Coloboma | 0.4% | 1/264 |
| Congenital ptosis | 0.4% | 1/264 |
| Deeply set eye | 0.4% | 1/264 |
| Excessive wrinkled skin | 0.4% | 1/264 |
| Exotropia | 0.4% | 1/264 |
| High forehead | 0.4% | 1/264 |
| Lacrimal duct stenosis | 0.4% | 1/264 |
| Lisch nodules | 0.4% | 1/264 |
| Long eyebrows | 0.4% | 1/264 |
| Lower eyelid edema | 0.4% | 1/264 |
| Medial flaring of the eyebrow | 0.4% | 1/264 |
| obsolete Prominent epicanthal folds | 0.4% | 1/264 |
| Periorbital fullness | 0.4% | 1/264 |
| Prominent glabella | 0.4% | 1/264 |
| Redundant skin | 0.4% | 1/264 |
| Short eyelashes | 0.4% | 1/264 |
| Telecanthus | 0.4% | 1/264 |
| Unilateral narrow palpebral fissure | 0.4% | 1/264 |
| Abnormality of the nose | 79.2% | 206/260 |
| Broad nasal tip | 38.8% | 101/260 |
| Thick nasal alae | 26.2% | 68/260 |
| Wide nasal bridge | 22.3% | 58/260 |
| Anteverted nares | 17.7% | 46/260 |
| Wide nasal base | 16.9% | 44/260 |
| Short nose | 12.7% | 33/260 |
| Depressed nasal bridge | 11.9% | 31/260 |
| Long nose | 7.3% | 19/260 |
| Wide nose | 6.9% | 18/260 |
| Bulbous nose | 5.0% | 13/260 |
| Prominent nasal tip | 2.7% | 7/260 |
| Prominent nasal bridge | 2.7% | 7/260 |
| Abnormal columella morphology | 1.5% | 4/260 |
| Long philtrum | 1.5% | 4/260 |
| Narrow nasal tip | 1.2% | 3/260 |
| Short philtrum | 1.2% | 3/260 |
| Low hanging columella | 0.8% | 2/260 |
| Narrow nasal bridge | 0.8% | 2/260 |
| Thick lower lip vermilion | 0.8% | 2/260 |
| Underdeveloped nasal alae | 0.8% | 2/260 |
| Abnormal nasal morphology | 0.4% | 1/260 |
| Abnormal nasal bridge morphology | 0.4% | 1/260 |
| Abnormal morphology of the nasal alae | 0.4% | 1/260 |
| Abnormal nasal tip morphology | 0.4% | 1/260 |
| Broad philtrum | 0.4% | 1/260 |
| Choanal atresia | 0.4% | 1/260 |
| Flat nasal alae | 0.4% | 1/260 |
| Hypodontia | 0.4% | 1/260 |
| Narrow nasal base | 0.4% | 1/260 |
| Nasal polyposis | 0.4% | 1/260 |
| Nasal congestion | 0.4% | 1/260 |
| Papule | 0.4% | 1/260 |
| Prominent nose | 0.4% | 1/260 |
| Retrognathia | 0.4% | 1/260 |
| Thick upper lip vermilion | 0.4% | 1/260 |
| Thick vermilion border | 0.4% | 1/260 |
| Thin upper lip vermilion | 0.4% | 1/260 |
| Thin lower lip vermilion | 0.4% | 1/260 |
| Abnormality of the mouth | 92.5% | 245/265 |
| Wide mouth | 50.6% | 134/265 |
| Thick lower lip vermilion | 47.5% | 126/265 |
| Thin upper lip vermilion | 29.4% | 78/265 |
| Long philtrum | 21.9% | 58/265 |
| Thick upper lip vermilion | 20.4% | 54/265 |
| Everted lower lip vermilion | 19.2% | 51/265 |
| Broad philtrum | 14.3% | 38/265 |
| Short philtrum | 13.6% | 36/265 |
| High palate | 13.2% | 35/265 |
| Widely spaced teeth | 12.1% | 32/265 |
| Delayed eruption of primary teeth | 11.3% | 30/265 |
| Delayed eruption of permanent teeth | 7.5% | 20/265 |
| Cleft palate | 4.5% | 12/265 |
| Macroglossia | 4.5% | 12/265 |
| Gingival overgrowth | 4.2% | 11/265 |
| Micrognathia | 3.8% | 10/265 |
| Hypodontia | 3.0% | 8/265 |
| Open mouth | 2.3% | 6/265 |
| Retrognathia | 2.3% | 6/265 |
| Bifid uvula | 1.9% | 5/265 |
| Coarse facial features | 1.9% | 5/265 |
| Narrow mouth | 1.5% | 4/265 |
| Abnormality of the philtrum | 1.1% | 3/265 |
| Abnormality of the dentition | 1.1% | 3/265 |
| Irregular dentition | 1.1% | 3/265 |
| Mandibular prognathia | 1.1% | 3/265 |
| Microdontia | 1.1% | 3/265 |
| Thin lower lip vermilion | 1.1% | 3/265 |
| Abnormal palate morphology | 0.8% | 2/265 |
| Abnormal dental enamel morphology | 0.8% | 2/265 |
| Ankyloglossia | 0.8% | 2/265 |
| Carious teeth | 0.8% | 2/265 |
| Dental malocclusion | 0.8% | 2/265 |
| High, narrow palate | 0.8% | 2/265 |
| Protruding tongue | 0.8% | 2/265 |
| Tooth malposition | 0.8% | 2/265 |
| Abnormality of mouth size | 0.4% | 1/265 |
| Abnormality of the tongue | 0.4% | 1/265 |
| Abnormality of the gingiva | 0.4% | 1/265 |
| Abnormality of upper lip vermillion | 0.4% | 1/265 |
| Absent speech | 0.4% | 1/265 |
| Advanced eruption of teeth | 0.4% | 1/265 |
| Cleft soft palate | 0.4% | 1/265 |
| Conical tooth | 0.4% | 1/265 |
| Delayed eruption of teeth | 0.4% | 1/265 |
| Downturned corners of mouth | 0.4% | 1/265 |
| Everted upper lip vermilion | 0.4% | 1/265 |
| Excessive salivation | 0.4% | 1/265 |
| Growth delay | 0.4% | 1/265 |
| Hypoplasia of the primary teeth | 0.4% | 1/265 |
| Hypoplasia of teeth | 0.4% | 1/265 |
| Increased overbite | 0.4% | 1/265 |
| Pes planus | 0.4% | 1/265 |
| Prominent palatine ridges | 0.4% | 1/265 |
| Short chin | 0.4% | 1/265 |
| Small, conical teeth | 0.4% | 1/265 |
| Smooth philtrum | 0.4% | 1/265 |
| Submucous cleft lip | 0.4% | 1/265 |
| Submucous cleft soft palate | 0.4% | 1/265 |
| Thick vermilion border | 0.4% | 1/265 |
| Widely-spaced incisors | 0.4% | 1/265 |
| Widely spaced primary teeth | 0.4% | 1/265 |
| Visual and hearing impairments | ||
| Abnormal hearing | 29.5% | 75/254 |
| Hearing impairment | 12.2% | 31/254 |
| Glue ear | 7.5% | 19/254 |
| Conductive hearing impairment | 4.7% | 12/254 |
| Sensorineural hearing impairment | 1.6% | 4/254 |
| Bilateral conductive hearing impairment | 1.2% | 3/254 |
| Bilateral sensorineural hearing impairment | 1.2% | 3/254 |
| Moderate sensorineural hearing impairment | 1.2% | 3/254 |
| Severe sensorineural hearing impairment | 1.2% | 3/254 |
| Mild conductive hearing impairment | 0.8% | 2/254 |
| Mild hearing impairment | 0.8% | 2/254 |
| Recurrent otitis media | 0.8% | 2/254 |
| Unilateral conductive hearing impairment | 0.8% | 2/254 |
| Abnormal tympanic membrane morphology | 0.4% | 1/254 |
| Abnormality of the middle ear | 0.4% | 1/254 |
| Hearing abnormality | 0.4% | 1/254 |
| Hyperacusis | 0.4% | 1/254 |
| Mixed hearing impairment | 0.4% | 1/254 |
| Moderate conductive hearing impairment | 0.4% | 1/254 |
| Otitis media | 0.4% | 1/254 |
| Progressive sensorineural hearing impairment | 0.4% | 1/254 |
| Severe hearing impairment | 0.4% | 1/254 |
| Unilateral | 0.4% | 1/254 |
| Abnormal vision | 55.0% | 132/240 |
| Myopia | 20.8% | 50/240 |
| Strabismus | 13.8% | 33/240 |
| Hypermetropia | 7.9% | 19/240 |
| Astigmatism | 7.5% | 18/240 |
| High myopia | 6.7% | 16/240 |
| Visual impairment | 6.3% | 15/240 |
| Nystagmus | 4.2% | 10/240 |
| Abnormality of refraction | 2.9% | 7/240 |
| Exotropia | 2.5% | 6/240 |
| Monocular strabismus | 1.3% | 3/240 |
| Abnormality of vision | 0.8% | 2/240 |
| Amblyopia | 0.8% | 2/240 |
| Coloboma | 0.8% | 2/240 |
| Glaucoma | 0.8% | 2/240 |
| Optic nerve hypoplasia | 0.8% | 2/240 |
| Abnormal optic disc morphology | 0.4% | 1/240 |
| Abnormal lens morphology | 0.4% | 1/240 |
| Blurred vision | 0.4% | 1/240 |
| Cataract | 0.4% | 1/240 |
| Cerebral visual impairment | 0.4% | 1/240 |
| Corneal ulceration | 0.4% | 1/240 |
| Developmental cataract | 0.4% | 1/240 |
| Esotropia | 0.4% | 1/240 |
| Keratoconus | 0.4% | 1/240 |
| Lattice corneal dystrophy | 0.4% | 1/240 |
| Ocular hypertension | 0.4% | 1/240 |
| Optic disc coloboma | 0.4% | 1/240 |
| Peripapillary chorioretinal atrophy | 0.4% | 1/240 |
| Severely reduced visual acuity | 0.4% | 1/240 |
| Heart | ||
| Abnormality of the heart | 25.4% | 60/236 |
| Atrial septal defect | 8.5% | 20/236 |
| Ventricular septal defect | 5.1% | 12/236 |
| Patent foramen ovale | 3.4% | 8/236 |
| Abnormal aortic valve morphology | 1.3% | 3/236 |
| Heart murmur | 1.3% | 3/236 |
| Mitral regurgitation | 1.3% | 3/236 |
| Patent ductus arteriosus | 1.3% | 3/236 |
| Abnormal atrial septum morphology | 0.8% | 2/236 |
| Abnormal heart morphology | 0.8% | 2/236 |
| Abnormal aortic arch morphology | 0.8% | 2/236 |
| Bicuspid aortic valve | 0.8% | 2/236 |
| Coarctation of aorta | 0.8% | 2/236 |
| Secundum atrial septal defect | 0.8% | 2/236 |
| Abnormality of the vasculature | 0.4% | 1/236 |
| Abnormal left ventricular function | 0.4% | 1/236 |
| Abnormal tricuspid valve morphology | 0.4% | 1/236 |
| Abnormal cardiac septum morphology | 0.4% | 1/236 |
| Abnormality of the pulmonary artery | 0.4% | 1/236 |
| Abnormal vena cava morphology | 0.4% | 1/236 |
| Abnormal left ventricle morphology | 0.4% | 1/236 |
| Arrhythmia | 0.4% | 1/236 |
| Atrioventricular canal defect | 0.4% | 1/236 |
| Atrioventricular block | 0.4% | 1/236 |
| Bradycardia | 0.4% | 1/236 |
| Cardiomyopathy | 0.4% | 1/236 |
| Congestive heart failure | 0.4% | 1/236 |
| Cyanosis | 0.4% | 1/236 |
| Dilated cardiomyopathy | 0.4% | 1/236 |
| Hypoplastic left ventricle | 0.4% | 1/236 |
| Hypoxemia | 0.4% | 1/236 |
| Left-to-right shunt | 0.4% | 1/236 |
| Non-restrictive ventricular septal defect | 0.4% | 1/236 |
| Premature ventricular contraction | 0.4% | 1/236 |
| Primum atrial septal defect | 0.4% | 1/236 |
| Pulmonic stenosis | 0.4% | 1/236 |
| Right ventricular dilatation | 0.4% | 1/236 |
| Supraventricular arrhythmia | 0.4% | 1/236 |
| Pulmonary | ||
| Abnormality of the lungs | 30.2% | 19/63 |
| Laryngomalacia | 6.3% | 4/63 |
| Asthma | 4.8% | 3/63 |
| Neonatal respiratory distress | 4.8% | 3/63 |
| Recurrent upper respiratory tract infections | 4.8% | 3/63 |
| Recurrent respiratory infections | 3.2% | 2/63 |
| Central apnea | 1.6% | 1/63 |
| Chronic pulmonary obstruction | 1.6% | 1/63 |
| Laryngotracheomalacia | 1.6% | 1/63 |
| Neoplasm of the lung | 1.6% | 1/63 |
| Obstructive sleep apnea | 1.6% | 1/63 |
| Recurrent pneumonia | 1.6% | 1/63 |
| Recurrent lower respiratory tract infections | 1.6% | 1/63 |
| Recurrent infections due to aspiration | 1.6% | 1/63 |
| Recurrent bronchitis | 1.6% | 1/63 |
| Respiratory insufficiency due to muscle weakness | 1.6% | 1/63 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 61.3% | 146/238 |
| Constipation | 20.6% | 49/238 |
| Feeding difficulties in infancy | 17.2% | 41/238 |
| Gastroesophageal reflux | 12.2% | 29/238 |
| Feeding difficulties | 10.5% | 25/238 |
| Umbilical hernia | 4.6% | 11/238 |
| Poor suck | 3.8% | 9/238 |
| Failure to thrive | 3.4% | 8/238 |
| Nasogastric tube feeding in infancy | 3.4% | 8/238 |
| Dysphagia | 2.9% | 7/238 |
| Diarrhea | 2.5% | 6/238 |
| Gastrostomy tube feeding in infancy | 2.5% | 6/238 |
| Inguinal hernia | 2.5% | 6/238 |
| Failure to thrive in infancy | 1.7% | 4/238 |
| Episodic vomiting | 1.3% | 3/238 |
| Gastroparesis | 1.3% | 3/238 |
| Laryngomalacia | 1.3% | 3/238 |
| Pyloric stenosis | 1.3% | 3/238 |
| Vomiting | 1.3% | 3/238 |
| Abnormal intestine morphology | 0.8% | 2/238 |
| Anal fistula | 0.8% | 2/238 |
| Gastrointestinal dysmotility | 0.8% | 2/238 |
| Hernia of the abdominal wall | 0.8% | 2/238 |
| Intestinal malrotation | 0.8% | 2/238 |
| Lactose intolerance | 0.8% | 2/238 |
| Abnormality of the gastrointestinal tract | 0.4% | 1/238 |
| Abnormal vascular physiology | 0.4% | 1/238 |
| Abnormal epiglottis morphology | 0.4% | 1/238 |
| Aganglionic megacolon | 0.4% | 1/238 |
| Anteriorly placed anus | 0.4% | 1/238 |
| Aspiration | 0.4% | 1/238 |
| Celiac disease | 0.4% | 1/238 |
| Cholelithiasis | 0.4% | 1/238 |
| Chronic constipation | 0.4% | 1/238 |
| Cow milk allergy | 0.4% | 1/238 |
| Dehydration | 0.4% | 1/238 |
| Enterocolitis | 0.4% | 1/238 |
| Esophagitis | 0.4% | 1/238 |
| Esophageal stenosis | 0.4% | 1/238 |
| Gastritis | 0.4% | 1/238 |
| Hepatosplenomegaly | 0.4% | 1/238 |
| Hiatus hernia | 0.4% | 1/238 |
| Hyperinsulinemia | 0.4% | 1/238 |
| Intestinal lymphangiectasia | 0.4% | 1/238 |
| Intestinal obstruction | 0.4% | 1/238 |
| Malnutrition | 0.4% | 1/238 |
| Pancreatitis | 0.4% | 1/238 |
| Ulcerative colitis | 0.4% | 1/238 |
| Urogenital | ||
| Abnormality of the urogenital system | 38.3% | 87/227 |
| Bilateral cryptorchidism | 13.7% | 31/227 |
| Unilateral cryptorchidism | 7.0% | 16/227 |
| Cryptorchidism | 6.6% | 15/227 |
| Nephrolithiasis | 2.6% | 6/227 |
| Hydronephrosis | 2.2% | 5/227 |
| Inguinal hernia | 1.8% | 4/227 |
| Retractile testis | 1.8% | 4/227 |
| Vesicoureteral reflux | 1.3% | 3/227 |
| Abnormality of the urinary system | 0.9% | 2/227 |
| Abnormal penis morphology | 0.9% | 2/227 |
| Chronic kidney disease | 0.9% | 2/227 |
| Increased size of the clitoris | 0.9% | 2/227 |
| Small scrotum | 0.9% | 2/227 |
| Abnormality of the ureter | 0.4% | 1/227 |
| Abnormal testis morphology | 0.4% | 1/227 |
| Abnormal renal morphology | 0.4% | 1/227 |
| Abnormality of the kidney | 0.4% | 1/227 |
| Abnormality of the urinary system physiology | 0.4% | 1/227 |
| Aplasia of the uterus | 0.4% | 1/227 |
| Aplasia of the upper vagina | 0.4% | 1/227 |
| Bicornuate uterus | 0.4% | 1/227 |
| Clitoral hypertrophy | 0.4% | 1/227 |
| Decreased testicular size | 0.4% | 1/227 |
| Elevated circulating creatinine concentration | 0.4% | 1/227 |
| Enuresis nocturna | 0.4% | 1/227 |
| Functional abnormality of the bladder | 0.4% | 1/227 |
| Hydrocele testis | 0.4% | 1/227 |
| Hydroureter | 0.4% | 1/227 |
| Hypoplastic male external genitalia | 0.4% | 1/227 |
| Nephrocalcinosis | 0.4% | 1/227 |
| Nephrotic syndrome | 0.4% | 1/227 |
| obsolete Small scrotum | 0.4% | 1/227 |
| Pelvic kidney | 0.4% | 1/227 |
| Proteinuria | 0.4% | 1/227 |
| Pyelonephritis | 0.4% | 1/227 |
| Renal cyst | 0.4% | 1/227 |
| Renal duplication | 0.4% | 1/227 |
| Renal dysplasia | 0.4% | 1/227 |
| Stage 5 chronic kidney disease | 0.4% | 1/227 |
| Unilateral renal atrophy | 0.4% | 1/227 |
| Ureteral duplication | 0.4% | 1/227 |
| Urethral valve | 0.4% | 1/227 |
| Urinary retention | 0.4% | 1/227 |
| Webbed penis | 0.4% | 1/227 |
| Skeleton | ||
| Skeletal abnormalities | 87.8% | 231/263 |
| Scoliosis | 19.8% | 52/263 |
| Abnormality of the distal phalanx of the 5th finger | 14.8% | 39/263 |
| Clinodactyly | 11.0% | 29/263 |
| Prominent interphalangeal joints | 11.0% | 29/263 |
| Short distal phalanx of finger | 10.6% | 28/263 |
| Short 5th finger | 10.6% | 28/263 |
| Sandal gap | 9.1% | 24/263 |
| obsolete Joint laxity | 8.4% | 22/263 |
| Pes planus | 8.4% | 22/263 |
| Delayed skeletal maturation | 7.6% | 20/263 |
| Short phalanx of finger | 6.8% | 18/263 |
| Brachydactyly | 6.5% | 17/263 |
| Short stature | 6.1% | 16/263 |
| Long hallux | 5.3% | 14/263 |
| Abnormal sternum morphology | 4.9% | 13/263 |
| Abnormality of the neck | 4.6% | 12/263 |
| Clinodactyly of the 5th finger | 3.8% | 10/263 |
| Plagiocephaly | 3.4% | 9/263 |
| Brachycephaly | 3.0% | 8/263 |
| Prominent fingertip pads | 3.0% | 8/263 |
| Dolichocephaly | 2.7% | 7/263 |
| Microcephaly | 2.7% | 7/263 |
| Frontal bossing | 2.3% | 6/263 |
| Patellar dislocation | 2.3% | 6/263 |
| Pectus excavatum | 2.3% | 6/263 |
| Arthritis | 1.9% | 5/263 |
| Hyperlordosis | 1.9% | 5/263 |
| Abnormal thumb morphology | 1.5% | 4/263 |
| Broad thumb | 1.5% | 4/263 |
| Delayed eruption of permanent teeth | 1.5% | 4/263 |
| Recurrent patellar dislocation | 1.5% | 4/263 |
| Short distal phalanx of the 5th finger | 1.5% | 4/263 |
| Broad hallux | 1.1% | 3/263 |
| Broad foot | 1.1% | 3/263 |
| Camptodactyly of finger | 1.1% | 3/263 |
| Cone-shaped epiphysis | 1.1% | 3/263 |
| Delayed eruption of teeth | 1.1% | 3/263 |
| Generalized hypotonia | 1.1% | 3/263 |
| Genu valgum | 1.1% | 3/263 |
| Growth delay | 1.1% | 3/263 |
| Hallux valgus | 1.1% | 3/263 |
| Joint hypermobility | 1.1% | 3/263 |
| Kyphosis | 1.1% | 3/263 |
| Pes valgus | 1.1% | 3/263 |
| Short finger | 1.1% | 3/263 |
| Short distal phalanx of toe | 1.1% | 3/263 |
| Single transverse palmar crease | 1.1% | 3/263 |
| Widely spaced teeth | 1.1% | 3/263 |
| Abnormal distal phalanx morphology of finger | 0.8% | 2/263 |
| Abnormal joint morphology | 0.8% | 2/263 |
| Accelerated skeletal maturation | 0.8% | 2/263 |
| Aplasia/Hypoplasia of the phalanges of the hand | 0.8% | 2/263 |
| Aplasia/Hypoplasia of the distal phalanges of the hand | 0.8% | 2/263 |
| Broad phalanx of the toes | 0.8% | 2/263 |
| Broad hallux phalanx | 0.8% | 2/263 |
| Broad distal phalanx of finger | 0.8% | 2/263 |
| Broad phalanges of the hand | 0.8% | 2/263 |
| Congenital hip dislocation | 0.8% | 2/263 |
| Curved phalanges of the 5th finger | 0.8% | 2/263 |
| Curved phalanges of the 2nd finger | 0.8% | 2/263 |
| Delayed eruption of primary teeth | 0.8% | 2/263 |
| Hypodontia | 0.8% | 2/263 |
| Kyphoscoliosis | 0.8% | 2/263 |
| obsolete Central hypotonia | 0.8% | 2/263 |
| Short middle phalanx of the 5th finger | 0.8% | 2/263 |
| Short foot | 0.8% | 2/263 |
| Short metatarsal | 0.8% | 2/263 |
| Short metacarpal | 0.8% | 2/263 |
| Short neck | 0.8% | 2/263 |
| Short 5th toe | 0.8% | 2/263 |
| Short toe | 0.8% | 2/263 |
| Small hand | 0.8% | 2/263 |
| Tooth malposition | 0.8% | 2/263 |
| Triphalangeal thumb | 0.8% | 2/263 |
| Wide intermamillary distance | 0.8% | 2/263 |
| Abnormality of the tarsal bones | 0.4% | 1/263 |
| Abnormal 5th finger phalanx morphology | 0.4% | 1/263 |
| Abnormality of the dentition | 0.4% | 1/263 |
| Abnormal muscle physiology | 0.4% | 1/263 |
| Abnormal calvaria morphology | 0.4% | 1/263 |
| Abnormal cervical curvature | 0.4% | 1/263 |
| Abnormal hip bone morphology | 0.4% | 1/263 |
| Abnormal metacarpal morphology | 0.4% | 1/263 |
| Abnormal scapula morphology | 0.4% | 1/263 |
| Abnormal vertebral morphology | 0.4% | 1/263 |
| Abnormal occipital bone morphology | 0.4% | 1/263 |
| Abnormal 4th metacarpal morphology | 0.4% | 1/263 |
| Abnormal 5th metacarpal morphology | 0.4% | 1/263 |
| Adducted thumb | 0.4% | 1/263 |
| Aplasia/Hypoplasia of the nails | 0.4% | 1/263 |
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger | 0.4% | 1/263 |
| Aplasia/Hypoplasia of the distal phalanges of the toes | 0.4% | 1/263 |
| Aplasia/Hypoplasia of fingers | 0.4% | 1/263 |
| Aplasia/Hypoplasia of the phalanges of the 5th toe | 0.4% | 1/263 |
| Aplasia/Hypoplasia of the 2nd finger | 0.4% | 1/263 |
| Bilateral elbow dislocations | 0.4% | 1/263 |
| Broad distal phalanges of all fingers | 0.4% | 1/263 |
| Broad palm | 0.4% | 1/263 |
| Broad toe | 0.4% | 1/263 |
| Broad distal hallux | 0.4% | 1/263 |
| Camptodactyly | 0.4% | 1/263 |
| Carious teeth | 0.4% | 1/263 |
| Clinodactyly of the 5th toe | 0.4% | 1/263 |
| Clinodactyly of the 4th finger | 0.4% | 1/263 |
| Coronal craniosynostosis | 0.4% | 1/263 |
| Craniosynostosis | 0.4% | 1/263 |
| Curved hallux phalanx | 0.4% | 1/263 |
| Curved phalanges of the 4th finger | 0.4% | 1/263 |
| Curved thumb phalanx | 0.4% | 1/263 |
| Deep plantar creases | 0.4% | 1/263 |
| Dental crowding | 0.4% | 1/263 |
| Dysharmonic delayed bone age | 0.4% | 1/263 |
| Elbow dislocation | 0.4% | 1/263 |
| Fifth toe symphalangism | 0.4% | 1/263 |
| Flat occiput | 0.4% | 1/263 |
| Gingival overgrowth | 0.4% | 1/263 |
| Hip dislocation | 0.4% | 1/263 |
| Hypertrichosis | 0.4% | 1/263 |
| Increased overbite | 0.4% | 1/263 |
| Inguinal hernia | 0.4% | 1/263 |
| Joint dislocation | 0.4% | 1/263 |
| Lambdoidal craniosynostosis | 0.4% | 1/263 |
| Limited elbow extension | 0.4% | 1/263 |
| Long toe | 0.4% | 1/263 |
| Long fingers | 0.4% | 1/263 |
| Long distal phalanx of finger | 0.4% | 1/263 |
| Lower limb pain | 0.4% | 1/263 |
| Macrocephaly at birth | 0.4% | 1/263 |
| Macrocephaly | 0.4% | 1/263 |
| Metatarsus adductus | 0.4% | 1/263 |
| Micrognathia | 0.4% | 1/263 |
| Microdontia | 0.4% | 1/263 |
| Mild short stature | 0.4% | 1/263 |
| Muscle weakness | 0.4% | 1/263 |
| obsolete Difficulty walking | 0.4% | 1/263 |
| obsolete Toe walking | 0.4% | 1/263 |
| Oligodontia | 0.4% | 1/263 |
| Overlapping toe | 0.4% | 1/263 |
| Patellar hypoplasia | 0.4% | 1/263 |
| Pes cavus | 0.4% | 1/263 |
| Positional foot deformity | 0.4% | 1/263 |
| Posterior plagiocephaly | 0.4% | 1/263 |
| Proximal placement of thumb | 0.4% | 1/263 |
| Rhizomelic arm shortening | 0.4% | 1/263 |
| Rhizomelia | 0.4% | 1/263 |
| Rhizomelic leg shortening | 0.4% | 1/263 |
| Rocker bottom foot | 0.4% | 1/263 |
| Sacral dimple | 0.4% | 1/263 |
| Short phalanx of the 5th toe | 0.4% | 1/263 |
| Shortening of all phalanges of the toes | 0.4% | 1/263 |
| Shortening of all distal phalanges of the toes | 0.4% | 1/263 |
| Shortening of all distal phalanges of the fingers | 0.4% | 1/263 |
| Shortening of all phalanges of fingers | 0.4% | 1/263 |
| Short hallux | 0.4% | 1/263 |
| Short sternum | 0.4% | 1/263 |
| Short 5th metacarpal | 0.4% | 1/263 |
| Short 4th metacarpal | 0.4% | 1/263 |
| Sparse scalp hair | 0.4% | 1/263 |
| Spondylolysis | 0.4% | 1/263 |
| Talipes valgus | 0.4% | 1/263 |
| Thick hair | 0.4% | 1/263 |
| Thoracic scoliosis | 0.4% | 1/263 |
| Thoracolumbar scoliosis | 0.4% | 1/263 |
| Toe syndactyly | 0.4% | 1/263 |
| Valgus hand deformity | 0.4% | 1/263 |
| 2-3 toe syndactyly | 0.4% | 1/263 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 93.2% | 248/266 |
| Hypertrichosis | 53.4% | 142/266 |
| Sparse scalp hair | 34.6% | 92/266 |
| Low anterior hairline | 26.7% | 71/266 |
| Hypoplastic fifth fingernail | 18.4% | 49/266 |
| Thick hair | 15.8% | 42/266 |
| Prominent fingertip pads | 12.4% | 33/266 |
| Low posterior hairline | 10.2% | 27/266 |
| Eczematoid dermatitis | 9.4% | 25/266 |
| Generalized hypertrichosis | 7.5% | 20/266 |
| Small nail | 7.5% | 20/266 |
| Hypoplastic fifth toenail | 6.0% | 16/266 |
| Hyperhidrosis | 4.5% | 12/266 |
| Hypoplastic toenails | 4.5% | 12/266 |
| Atopic dermatitis | 4.1% | 11/266 |
| Fine hair | 4.1% | 11/266 |
| Wide intermamillary distance | 3.8% | 10/266 |
| Hypoplastic fingernail | 3.4% | 9/266 |
| Single transverse palmar crease | 3.0% | 8/266 |
| Nevus | 2.6% | 7/266 |
| Abnormal nail morphology | 2.3% | 6/266 |
| Slow-growing nails | 2.3% | 6/266 |
| Abnormality of the scalp hair | 1.5% | 4/266 |
| Cafe-au-lait spot | 1.5% | 4/266 |
| Excessive wrinkled skin | 1.5% | 4/266 |
| Hyperpigmentation of the skin | 1.5% | 4/266 |
| Aplasia/Hypoplasia of the nails | 1.1% | 3/266 |
| Coarse hair | 1.1% | 3/266 |
| Cutis marmorata | 1.1% | 3/266 |
| Hyperkeratosis | 1.1% | 3/266 |
| Short distal phalanx of finger | 1.1% | 3/266 |
| Sparse hair | 1.1% | 3/266 |
| Thin nail | 1.1% | 3/266 |
| Thin fingernail | 1.1% | 3/266 |
| Thoracic hypertrichosis | 1.1% | 3/266 |
| Abnormally lax or hyperextensible skin | 0.8% | 2/266 |
| Bilateral single transverse palmar creases | 0.8% | 2/266 |
| Deep palmar crease | 0.8% | 2/266 |
| Facial hypertrichosis | 0.8% | 2/266 |
| Few cafe-au-lait spots | 0.8% | 2/266 |
| Hemangioma | 0.8% | 2/266 |
| Hypopigmentation of the skin | 0.8% | 2/266 |
| Jaundice | 0.8% | 2/266 |
| Melanocytic nevus | 0.8% | 2/266 |
| Numerous nevi | 0.8% | 2/266 |
| Sacral dimple | 0.8% | 2/266 |
| Short nail | 0.8% | 2/266 |
| Thick eyebrow | 0.8% | 2/266 |
| Thickened skin | 0.8% | 2/266 |
| Abnormality of the distal phalanx of the 5th finger | 0.4% | 1/266 |
| Abnormal hair morphology | 0.4% | 1/266 |
| Abnormality of hair growth rate | 0.4% | 1/266 |
| Abnormality of the palmar creases | 0.4% | 1/266 |
| Abnormality of hair growth | 0.4% | 1/266 |
| Abnormal position of hair whorl | 0.4% | 1/266 |
| Abnormal toenail morphology | 0.4% | 1/266 |
| Absent fifth fingernail | 0.4% | 1/266 |
| Absent fifth toenail | 0.4% | 1/266 |
| Acanthosis nigricans | 0.4% | 1/266 |
| Alopecia | 0.4% | 1/266 |
| Alopecia of scalp | 0.4% | 1/266 |
| Aplastic/hypoplastic toenail | 0.4% | 1/266 |
| Broad distal phalanx of the 4th toe | 0.4% | 1/266 |
| Clinodactyly | 0.4% | 1/266 |
| Clinodactyly of the 5th finger | 0.4% | 1/266 |
| Clubbing | 0.4% | 1/266 |
| Congenital, generalized hypertrichosis | 0.4% | 1/266 |
| Congenital giant melanocytic nevus | 0.4% | 1/266 |
| Curly hair | 0.4% | 1/266 |
| Depigmentation/hyperpigmentation of skin | 0.4% | 1/266 |
| Elbow hypertrichosis | 0.4% | 1/266 |
| Facial hirsutism | 0.4% | 1/266 |
| Frontal hirsutism | 0.4% | 1/266 |
| High anterior hairline | 0.4% | 1/266 |
| Hirsutism | 0.4% | 1/266 |
| Hyperextensible skin | 0.4% | 1/266 |
| Increased body weight | 0.4% | 1/266 |
| Irregular hyperpigmentation | 0.4% | 1/266 |
| Localized hirsutism | 0.4% | 1/266 |
| Localized skin lesion | 0.4% | 1/266 |
| Multiple cafe-au-lait spots | 0.4% | 1/266 |
| Neoplasm of the skin | 0.4% | 1/266 |
| obsolete Sparse and thin eyebrow | 0.4% | 1/266 |
| Pallor | 0.4% | 1/266 |
| Papule | 0.4% | 1/266 |
| Polyhydramnios | 0.4% | 1/266 |
| Premature skin wrinkling | 0.4% | 1/266 |
| Pressure ulcer | 0.4% | 1/266 |
| Red hair | 0.4% | 1/266 |
| Sacral hypertrichosis | 0.4% | 1/266 |
| Short 5th finger | 0.4% | 1/266 |
| Skin tags | 0.4% | 1/266 |
| Slow-growing hair | 0.4% | 1/266 |
| Slow-growing scalp hair | 0.4% | 1/266 |
| Spotty hyperpigmentation | 0.4% | 1/266 |
| Striae distensae | 0.4% | 1/266 |
| Thin toenail | 0.4% | 1/266 |
| Urticaria | 0.4% | 1/266 |
| Vitiligo | 0.4% | 1/266 |
| Webbed neck | 0.4% | 1/266 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 17.2% | 35/203 |
| Hypothyroidism | 6.4% | 13/203 |
| Decreased response to growth hormone stimulation test | 4.9% | 10/203 |
| Type II diabetes mellitus | 1.5% | 3/203 |
| Compensated hypothyroidism | 1.0% | 2/203 |
| Diabetes mellitus | 1.0% | 2/203 |
| Abnormality of the thyroid gland | 0.5% | 1/203 |
| Abnormality of thyroid physiology | 0.5% | 1/203 |
| Central hypothyroidism | 0.5% | 1/203 |
| Congenital hypothyroidism | 0.5% | 1/203 |
| Decreased circulating cortisol level | 0.5% | 1/203 |
| Delayed puberty | 0.5% | 1/203 |
| Elevated circulating parathyroid hormone level | 0.5% | 1/203 |
| Gynecomastia | 0.5% | 1/203 |
| Increased circulating free T3 | 0.5% | 1/203 |
| Increased circulating androgen concentration | 0.5% | 1/203 |
| Precocious puberty | 0.5% | 1/203 |
| Puberty and gonadal disorders | 0.5% | 1/203 |
| Type I diabetes mellitus | 0.5% | 1/203 |
| Abnormality of the metabolic system | 7.8% | 16/204 |
| Hypercholesterolemia | 1.0% | 2/204 |
| Hypocalcemia | 1.0% | 2/204 |
| Anemia | 0.5% | 1/204 |
| Decreased circulating vitamin B12 concentration | 0.5% | 1/204 |
| Diabetes mellitus | 0.5% | 1/204 |
| Hyperinsulinemia | 0.5% | 1/204 |
| Hypercalciuria | 0.5% | 1/204 |
| Hypercalcemia | 0.5% | 1/204 |
| Hyperglycemia | 0.5% | 1/204 |
| Hyperammonemia | 0.5% | 1/204 |
| Hypomagnesemia | 0.5% | 1/204 |
| Methylmalonic acidemia | 0.5% | 1/204 |
| Muscle abnormality related to mitochondrial dysfunction | 0.5% | 1/204 |
| Neonatal hypoglycemia | 0.5% | 1/204 |
| Obesity | 0.5% | 1/204 |
| Type I diabetes mellitus | 0.5% | 1/204 |
| Abnormality of the immune system | 33.3% | 77/231 |
| Recurrent infections | 11.3% | 26/231 |
| Recurrent otitis media | 8.7% | 20/231 |
| Recurrent upper respiratory tract infections | 6.9% | 16/231 |
| Recurrent respiratory infections | 2.6% | 6/231 |
| Eczematoid dermatitis | 1.3% | 3/231 |
| Recurrent urinary tract infections | 1.3% | 3/231 |
| Recurrent lower respiratory tract infections | 1.3% | 3/231 |
| Respiratory infections in early life | 1.3% | 3/231 |
| Allergy | 0.9% | 2/231 |
| Chronic otitis media | 0.9% | 2/231 |
| Conjunctivitis | 0.9% | 2/231 |
| Asthma | 0.4% | 1/231 |
| Bronchiolitis | 0.4% | 1/231 |
| Decreased circulating immunoglobulin concentration | 0.4% | 1/231 |
| Decreased total lymphocyte count | 0.4% | 1/231 |
| Increased total eosinophil count | 0.4% | 1/231 |
| obsolete Recurrent infections of the middle ear | 0.4% | 1/231 |
| Otitis media | 0.4% | 1/231 |
| Panhypogammaglobulinemia | 0.4% | 1/231 |
| Recurrent bronchitis | 0.4% | 1/231 |
| Recurrent upper and lower respiratory tract infections | 0.4% | 1/231 |
| Recurrent bronchopulmonary infections | 0.4% | 1/231 |
| Respiratory tract infection | 0.4% | 1/231 |
| Seasonal allergy | 0.4% | 1/231 |
| Small vessel vasculitis | 0.4% | 1/231 |
| Neoplasia | ||
| Neoplasia | 0.7% | 2/272 |
| Abnormal lung morphology | 0.4% | 1/272 |
| Brain neoplasm | 0.4% | 1/272 |
| Leydig cell neoplasia | 0.4% | 1/272 |
| Sertoli cell neoplasm | 0.4% | 1/272 |