ARID1B
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 105/210 |
| Female | 50.0% | 105/210 |
| Neurology | ||
| Neurological abnormalities | 86.2% | 163/189 |
| Seizures | 15.3% | 29/189 |
| Absence seizures | 1.6% | 3/189 |
| Febrile seizures | 3.7% | 7/189 |
| Generalized hypotonia | 19.0% | 36/189 |
| Impaired pain sensation | 6.3% | 12/189 |
| Generalized tonic-clonic seizures | 6.3% | 12/189 |
| EEG abnormality | 4.2% | 8/189 |
| Neonatal hypotonia | 9.0% | 17/189 |
| Atonic seizures | 0.5% | 1/189 |
| Muscular hypotonia | 32.8% | 62/189 |
| Abnormality of pain sensation | 2.1% | 4/189 |
| Poor fine motor coordination | 1.1% | 2/189 |
| Focal seizures with impairment of consciousness or awareness | 2.6% | 5/189 |
| Focal seizures | 1.1% | 2/189 |
| Headache | 0.5% | 1/189 |
| Generalized tonic seizures | 1.1% | 2/189 |
| Generalized myoclonic seizures | 1.1% | 2/189 |
| Unsteady gait | 0.5% | 1/189 |
| Developmental regression | 0.5% | 1/189 |
| Gait imbalance | 0.5% | 1/189 |
| Cerebral palsy | 0.5% | 1/189 |
| Broad-based gait | 1.1% | 2/189 |
| Ataxia | 0.5% | 1/189 |
| Infantile axial hypotonia | 0.5% | 1/189 |
| Hyperreflexia | 1.6% | 3/189 |
| Motor delay | 2.1% | 4/189 |
| Muscular hypotonia of the trunk | 0.5% | 1/189 |
| Global developmental delay | 0.5% | 1/189 |
| Lower limb hyperreflexia | 1.1% | 2/189 |
| Visual agnosia | 3.7% | 7/189 |
| Impaired visuospatial constructive cognition | 3.7% | 7/189 |
| Astereognosia | 3.7% | 7/189 |
| Lower limb hypertonia | 1.1% | 2/189 |
| Upper limb hypertonia | 1.1% | 2/189 |
| Infantile muscular hypotonia | 0.5% | 1/189 |
| Torticollis | 0.5% | 1/189 |
| Oromandibular dystonia | 0.5% | 1/189 |
| Exercise intolerance | 0.5% | 1/189 |
| Poor gross motor coordination | 0.5% | 1/189 |
| Dysarthria | 0.5% | 1/189 |
| Gait disturbance | 0.5% | 1/189 |
| Postural instability | 0.5% | 1/189 |
| Dysmetria | 0.5% | 1/189 |
| Dysdiadochokinesis | 0.5% | 1/189 |
| Focal seizures without impairment of consciousness or awareness | 0.5% | 1/189 |
| Gait ataxia | 1.6% | 3/189 |
| Central hypotonia | 3.7% | 7/189 |
| Posterior fossa cyst | 0.5% | 1/189 |
| Abnormality of the subarachnoid space | 0.5% | 1/189 |
| Colpocephaly | 1.1% | 2/189 |
| Dysplastic corpus callosum | 0.5% | 1/189 |
| Widened subarachnoid space | 0.5% | 1/189 |
| Partial agenesis of the corpus callosum | 0.5% | 1/189 |
| Delayed myelination | 1.1% | 2/189 |
| Abnormality of the corpus callosum | 0.5% | 1/189 |
| Agenesis of corpus callosum | 0.5% | 1/189 |
| Generalized seizures | 0.5% | 1/189 |
| Behavioral problems | 66.1% | 111/168 |
| Short attention span | 9.5% | 16/168 |
| Anxiety | 3.0% | 5/168 |
| Hyperactivity | 25.0% | 42/168 |
| Attention deficit hyperactivity disorder | 13.7% | 23/168 |
| Autistic behavior | 31.0% | 52/168 |
| Hyperkinesis | 6.0% | 10/168 |
| Obsessive-compulsive behavior | 7.1% | 12/168 |
| Emotional lability | 1.2% | 2/168 |
| Abnormal emotion/affect behavior | 1.2% | 2/168 |
| Impulsivity | 3.6% | 6/168 |
| Violent behavior | 0.6% | 1/168 |
| Oral aversion | 0.6% | 1/168 |
| Abnormal fear/anxiety-related behavior | 8.3% | 14/168 |
| Autism | 7.1% | 12/168 |
| Obsessive-compulsive trait | 2.4% | 4/168 |
| Clumsiness | 0.6% | 1/168 |
| Aggressive behavior | 7.7% | 13/168 |
| Impaired social interactions | 7.7% | 13/168 |
| Behavioral abnormality | 3.0% | 5/168 |
| Inflexible adherence to routines or rituals | 1.2% | 2/168 |
| Abnormal social behavior | 3.0% | 5/168 |
| Sleep disturbance | 0.6% | 1/168 |
| Repetitive compulsive behavior | 0.6% | 1/168 |
| Stereotypic behavior | 6.5% | 11/168 |
| Poor eye contact | 0.6% | 1/168 |
| Impaired ability to form peer relationships | 0.6% | 1/168 |
| Shyness | 0.6% | 1/168 |
| Phonophobia | 0.6% | 1/168 |
| Restrictive behavior | 0.6% | 1/168 |
| Impaired social reciprocity | 3.0% | 5/168 |
| Overfriendliness | 0.6% | 1/168 |
| Abnormal aggressive, impulsive or violent behavior | 1.2% | 2/168 |
| Hyperacusis | 0.6% | 1/168 |
| Absent speech | 0.6% | 1/168 |
| Self-injurious behavior | 0.6% | 1/168 |
| Brain abnormality | 73.2% | 109/149 |
| Enlarged cisterna magna | 6.7% | 10/149 |
| Brain atrophy | 0.7% | 1/149 |
| Abnormality of the periventricular white matter | 0.7% | 1/149 |
| Abnormality of the corpus callosum | 3.4% | 5/149 |
| Agenesis of corpus callosum | 22.1% | 33/149 |
| Ventriculomegaly | 2.0% | 3/149 |
| Dysplastic corpus callosum | 3.4% | 5/149 |
| Hypoplasia of the corpus callosum | 8.7% | 13/149 |
| Delayed myelination | 6.0% | 9/149 |
| Arachnoid cyst | 2.0% | 3/149 |
| Partial agenesis of the corpus callosum | 7.4% | 11/149 |
| Pachygyria | 0.7% | 1/149 |
| Colpocephaly | 4.7% | 7/149 |
| Abnormality of cerebral veins | 0.7% | 1/149 |
| Aplasia/Hypoplasia of the corpus callosum | 6.0% | 9/149 |
| Intracranial cystic lesion | 2.0% | 3/149 |
| Perivascular spaces | 1.3% | 2/149 |
| Prominent supraorbital ridges | 0.7% | 1/149 |
| Hypoplastic olfactory lobes | 0.7% | 1/149 |
| Choroid plexus cyst | 1.3% | 2/149 |
| Abnormality of the cerebral cortex | 0.7% | 1/149 |
| Abnormality of the cerebellum | 0.7% | 1/149 |
| Abnormality of the cerebral white matter | 0.7% | 1/149 |
| Abnormality of corpus cavernosum | 0.7% | 1/149 |
| Heterotopia | 1.3% | 2/149 |
| Polymicrogyria | 0.7% | 1/149 |
| Arnold-Chiari type I malformation | 1.3% | 2/149 |
| Lambdoidal craniosynostosis | 0.7% | 1/149 |
| Multiple suture craniosynostosis | 0.7% | 1/149 |
| Sagittal craniosynostosis | 0.7% | 1/149 |
| Cavum septum pellucidum | 0.7% | 1/149 |
| Neonatal hypotonia | 0.7% | 1/149 |
| Asymmetric ventricles | 0.7% | 1/149 |
| Cerebellar cyst | 3.4% | 5/149 |
| Cerebellar agenesis | 0.7% | 1/149 |
| Microcephaly | 0.7% | 1/149 |
| Hydrocephalus | 0.7% | 1/149 |
| Relative macrocephaly | 0.7% | 1/149 |
| Thick corpus callosum | 3.4% | 5/149 |
| Short corpus callosum | 4.0% | 6/149 |
| Cerebellar dysplasia | 0.7% | 1/149 |
| Attention deficit hyperactivity disorder | 1.3% | 2/149 |
| Retrocerebellar cyst | 3.4% | 5/149 |
| Subarachnoid hemorrhage | 0.7% | 1/149 |
| Abnormality of lateral ventricle | 0.7% | 1/149 |
| Abnormal length of corpus callosum | 0.7% | 1/149 |
| Enlarged fetal cisterna magna | 0.7% | 1/149 |
| Hypoplasia of the brainstem | 0.7% | 1/149 |
| Abnormality of midbrain morphology | 0.7% | 1/149 |
| Seizures | 0.7% | 1/149 |
| Aplasia/Hypoplasia of the cerebrum | 1.3% | 2/149 |
| Cerebellar hypoplasia | 1.3% | 2/149 |
| Dandy-Walker malformation | 0.7% | 1/149 |
| Absent septum pellucidum | 0.7% | 1/149 |
| Abnormality of neuronal migration | 0.7% | 1/149 |
| Talipes calcaneovarus | 0.7% | 1/149 |
| Neoplasm of the central nervous system | 0.7% | 1/149 |
| Cerebral hypoplasia | 0.7% | 1/149 |
| Bilateral intracranial calcifications | 0.7% | 1/149 |
| Abnormality of the pons | 0.7% | 1/149 |
| Hypoplasia of the pons | 0.7% | 1/149 |
| Abnormality of forebrain morphology | 0.7% | 1/149 |
| Aplasia/Hypoplasia involving the central nervous system | 0.7% | 1/149 |
| Hypodysplasia of the corpus callosum | 0.7% | 1/149 |
| Facial abnormalities | ||
| Abnormality of the ear | 61.2% | 115/188 |
| Macrotia | 4.8% | 9/188 |
| Abnormality of the ear | 5.3% | 10/188 |
| Posteriorly rotated ears | 4.8% | 9/188 |
| Uplifted earlobe | 4.3% | 8/188 |
| Abnormality of earlobe | 1.1% | 2/188 |
| Overfolded helix | 1.6% | 3/188 |
| Forward facing earlobe | 1.6% | 3/188 |
| Cupped ear | 1.1% | 2/188 |
| Protruding ear | 4.8% | 9/188 |
| Low-set ears | 12.2% | 23/188 |
| Underdeveloped superior crus of antihelix | 1.6% | 3/188 |
| Abnormality of the pinna | 9.6% | 18/188 |
| Long eyelashes | 0.5% | 1/188 |
| Thick eyebrow | 0.5% | 1/188 |
| Abnormality of the outer ear | 4.8% | 9/188 |
| Low-set, posteriorly rotated ears | 8.0% | 15/188 |
| External ear malformation | 3.2% | 6/188 |
| Large earlobe | 0.5% | 1/188 |
| Small earlobe | 1.1% | 2/188 |
| Thickened helices | 1.1% | 2/188 |
| Asymmetry of the ears | 0.5% | 1/188 |
| Abnormal location of ears | 1.1% | 2/188 |
| Abnormality of periauricular region | 0.5% | 1/188 |
| Satyr ear | 0.5% | 1/188 |
| Preauricular pit | 1.6% | 3/188 |
| Cholesteatoma | 1.1% | 2/188 |
| Mild hearing impairment | 0.5% | 1/188 |
| Recurrent otitis media | 0.5% | 1/188 |
| Recurrent infections of the middle ear | 0.5% | 1/188 |
| Prominent ear helix | 0.5% | 1/188 |
| Microtia | 0.5% | 1/188 |
| Long ear | 0.5% | 1/188 |
| Abnormality of the eye | 89.1% | 172/193 |
| Long eyelashes | 49.7% | 96/193 |
| Bilateral ptosis | 4.1% | 8/193 |
| Periorbital wrinkles | 8.3% | 16/193 |
| Highly arched eyebrow | 2.1% | 4/193 |
| Muscular hypotonia of the trunk | 0.5% | 1/193 |
| Thick eyebrow | 60.1% | 116/193 |
| Downslanted palpebral fissures | 14.5% | 28/193 |
| Epicanthus | 5.7% | 11/193 |
| Upslanted palpebral fissure | 6.7% | 13/193 |
| Long palpebral fissure | 3.6% | 7/193 |
| Ptosis | 8.3% | 16/193 |
| Synophrys | 8.3% | 16/193 |
| Short eyelashes | 0.5% | 1/193 |
| Facial wrinkling | 2.6% | 5/193 |
| Small palpebral fissure | 3.1% | 6/193 |
| Abnormality of the lacrimal duct | 2.6% | 5/193 |
| Unilateral ptosis | 3.1% | 6/193 |
| Lower eyelid edema | 0.5% | 1/193 |
| Short palpebral fissure | 2.1% | 4/193 |
| Long eyebrows | 0.5% | 1/193 |
| Excessive wrinkled skin | 0.5% | 1/193 |
| Prominent epicanthal folds | 0.5% | 1/193 |
| Strabismus | 4.1% | 8/193 |
| Broad forehead | 0.5% | 1/193 |
| High forehead | 0.5% | 1/193 |
| Hypertelorism | 3.1% | 6/193 |
| Prominent eyelashes | 3.6% | 7/193 |
| Blue sclerae | 0.5% | 1/193 |
| Exotropia | 0.5% | 1/193 |
| Congenital ptosis | 0.5% | 1/193 |
| Lacrimal duct stenosis | 0.5% | 1/193 |
| Esotropia | 1.0% | 2/193 |
| Abnormality of the eyelashes | 0.5% | 1/193 |
| Horizontal nystagmus | 0.5% | 1/193 |
| Nasolacrimal duct obstruction | 1.0% | 2/193 |
| Proptosis | 1.6% | 3/193 |
| Deeply set eye | 0.5% | 1/193 |
| Lisch nodules | 0.5% | 1/193 |
| Abnormality of the periorbital region | 1.0% | 2/193 |
| Redundant skin | 0.5% | 1/193 |
| Periorbital fullness | 0.5% | 1/193 |
| Abnormality of the nose | 78.7% | 148/188 |
| Wide nasal bridge | 23.9% | 45/188 |
| Depressed nasal bridge | 13.8% | 26/188 |
| Anteverted nares | 20.2% | 38/188 |
| Short nose | 12.2% | 23/188 |
| Long nose | 9.6% | 18/188 |
| Thick nasal alae | 30.3% | 57/188 |
| Wide nasal base | 20.7% | 39/188 |
| Thick lower lip vermilion | 1.1% | 2/188 |
| Broad nasal tip | 43.6% | 82/188 |
| Abnormality of the nasal alae | 0.5% | 1/188 |
| Abnormality of the columella | 0.5% | 1/188 |
| Narrow nasal tip | 1.6% | 3/188 |
| Underdeveloped nasal alae | 0.5% | 1/188 |
| Prominent nasal tip | 2.1% | 4/188 |
| Bulbous nose | 4.3% | 8/188 |
| Abnormality of the nasal bridge | 0.5% | 1/188 |
| Long philtrum | 1.1% | 2/188 |
| Nasal polyposis | 0.5% | 1/188 |
| Nasal obstruction | 0.5% | 1/188 |
| Thin upper lip vermilion | 0.5% | 1/188 |
| Thin lower lip vermilion | 0.5% | 1/188 |
| Thick upper lip vermilion | 0.5% | 1/188 |
| Hypodontia | 0.5% | 1/188 |
| Narrow nasal base | 0.5% | 1/188 |
| Abnormality of the nasal tip | 0.5% | 1/188 |
| Narrow nasal bridge | 0.5% | 1/188 |
| Prominent nasal bridge | 1.1% | 2/188 |
| Prominent nose | 0.5% | 1/188 |
| Thick vermilion border | 0.5% | 1/188 |
| Papule | 0.5% | 1/188 |
| Retrognathia | 0.5% | 1/188 |
| Flat nasal alae | 0.5% | 1/188 |
| Broad philtrum | 0.5% | 1/188 |
| Abnormal nasal morphology | 0.5% | 1/188 |
| Wide nose | 1.1% | 2/188 |
| Low hanging columella | 0.5% | 1/188 |
| Abnormality of the mouth | 93.7% | 179/191 |
| Long philtrum | 27.7% | 53/191 |
| Wide mouth | 56.0% | 107/191 |
| Thick upper lip vermilion | 19.9% | 38/191 |
| Thick lower lip vermilion | 53.4% | 102/191 |
| Abnormality of dental enamel | 1.0% | 2/191 |
| Prominent palatine ridges | 0.5% | 1/191 |
| Delayed eruption of primary teeth | 13.1% | 25/191 |
| Delayed eruption of permanent teeth | 7.3% | 14/191 |
| Widely spaced teeth | 14.7% | 28/191 |
| Thin upper lip vermilion | 30.9% | 59/191 |
| Everted lower lip vermilion | 21.5% | 41/191 |
| Hypodontia | 4.2% | 8/191 |
| High palate | 11.0% | 21/191 |
| Broad philtrum | 19.4% | 37/191 |
| Short philtrum | 14.1% | 27/191 |
| Bifid uvula | 2.1% | 4/191 |
| Cleft palate | 5.2% | 10/191 |
| Mandibular prognathia | 1.0% | 2/191 |
| Gingival overgrowth | 5.8% | 11/191 |
| Everted upper lip vermilion | 0.5% | 1/191 |
| Ankyloglossia | 0.5% | 1/191 |
| Advanced eruption of teeth | 0.5% | 1/191 |
| Open mouth | 2.1% | 4/191 |
| Abnormality of mouth size | 0.5% | 1/191 |
| Coarse facial features | 2.6% | 5/191 |
| Abnormality of the gingiva | 0.5% | 1/191 |
| Abnormality of the philtrum | 1.6% | 3/191 |
| Microdontia | 2.1% | 4/191 |
| Misalignment of teeth | 0.5% | 1/191 |
| Widely spaced primary teeth | 0.5% | 1/191 |
| Excessive salivation | 0.5% | 1/191 |
| Overbite | 0.5% | 1/191 |
| Macroglossia | 2.6% | 5/191 |
| Thin lower lip vermilion | 0.5% | 1/191 |
| Submucous cleft soft palate | 0.5% | 1/191 |
| Short chin | 0.5% | 1/191 |
| Micrognathia | 4.2% | 8/191 |
| Downturned corners of mouth | 0.5% | 1/191 |
| Widely-spaced incisors | 0.5% | 1/191 |
| Thick vermilion border | 0.5% | 1/191 |
| Protruding tongue | 0.5% | 1/191 |
| Smooth philtrum | 0.5% | 1/191 |
| Carious teeth | 1.0% | 2/191 |
| Submucous cleft lip | 0.5% | 1/191 |
| Conical tooth | 0.5% | 1/191 |
| Retrognathia | 0.5% | 1/191 |
| Small, conical teeth | 0.5% | 1/191 |
| Dental malocclusion | 0.5% | 1/191 |
| Absent speech | 0.5% | 1/191 |
| High, narrow palate | 0.5% | 1/191 |
| Abnormality of the tongue | 0.5% | 1/191 |
| Growth delay | 0.5% | 1/191 |
| Pes planus | 0.5% | 1/191 |
| Visual and hearing impairments | ||
| Abnormal hearing | 23.5% | 43/183 |
| Bilateral conductive hearing impairment | 1.6% | 3/183 |
| Hearing impairment | 13.7% | 25/183 |
| Otitis media | 0.5% | 1/183 |
| Conductive hearing impairment | 3.8% | 7/183 |
| Hyperacusis | 0.5% | 1/183 |
| Abnormality of the middle ear | 0.5% | 1/183 |
| Sensorineural hearing impairment | 0.5% | 1/183 |
| Severe hearing impairment | 0.5% | 1/183 |
| Mild hearing impairment | 1.1% | 2/183 |
| Abnormality of the tympanic membrane | 0.5% | 1/183 |
| Mixed hearing impairment | 0.5% | 1/183 |
| Bilateral sensorineural hearing impairment | 1.6% | 3/183 |
| Moderate sensorineural hearing impairment | 1.6% | 3/183 |
| Severe sensorineural hearing impairment | 1.1% | 2/183 |
| Moderate conductive hearing impairment | 0.5% | 1/183 |
| Mild conductive hearing impairment | 0.5% | 1/183 |
| Unilateral | 0.5% | 1/183 |
| Recurrent otitis media | 0.5% | 1/183 |
| Glue ear | 0.5% | 1/183 |
| Hearing abnormality | 0.5% | 1/183 |
| Abnormal vision | 55.6% | 95/171 |
| Nystagmus | 4.1% | 7/171 |
| Severe Myopia | 6.4% | 11/171 |
| Myopia | 21.1% | 36/171 |
| Visual impairment | 7.6% | 13/171 |
| Astigmatism | 7.0% | 12/171 |
| Abnormality of refraction | 3.5% | 6/171 |
| Hypermetropia | 5.8% | 10/171 |
| Esotropia | 0.6% | 1/171 |
| Strabismus | 11.7% | 20/171 |
| Unilateral strabismus | 1.8% | 3/171 |
| Optic nerve hypoplasia | 1.2% | 2/171 |
| Coloboma | 0.6% | 1/171 |
| Corneal ulceration | 0.6% | 1/171 |
| Blurred vision | 0.6% | 1/171 |
| Cortical visual impairment | 0.6% | 1/171 |
| Exotropia | 2.3% | 4/171 |
| Amblyopia | 1.2% | 2/171 |
| Optic nerve coloboma | 0.6% | 1/171 |
| Increased intraocular pressure | 0.6% | 1/171 |
| Cataract | 0.6% | 1/171 |
| Abnormality of the optic disc | 0.6% | 1/171 |
| Peripapillary chorioretinal atrophy | 0.6% | 1/171 |
| Keratoconus | 0.6% | 1/171 |
| Congenital cataract | 0.6% | 1/171 |
| Heart | ||
| Abnormality of the heart | 23.4% | 39/167 |
| Atria septal defect | 10.8% | 18/167 |
| Mitral regurgitation | 1.8% | 3/167 |
| Atrioventricular block | 0.6% | 1/167 |
| Patent foramen ovale | 2.4% | 4/167 |
| Ventricular septal defect | 4.2% | 7/167 |
| Abnormality of the tricuspid valve | 0.6% | 1/167 |
| Atrioventricular canal defect | 0.6% | 1/167 |
| Coarctation of aorta | 1.2% | 2/167 |
| Bicuspid aortic valve | 1.2% | 2/167 |
| Abnormality of the aortic valve | 1.2% | 2/167 |
| Abnormality of the atrial septum | 1.2% | 2/167 |
| Cyanosis | 0.6% | 1/167 |
| Bradycardia | 0.6% | 1/167 |
| Heart murmur | 0.6% | 1/167 |
| Non-restrictive ventricular septal defect | 0.6% | 1/167 |
| Patent ductus arteriosus | 0.6% | 1/167 |
| Secundum atrial septal defect | 0.6% | 1/167 |
| Left-to-right shunt | 0.6% | 1/167 |
| Abnormal heart morphology | 1.2% | 2/167 |
| Abnormality of the cardiac septa | 0.6% | 1/167 |
| Abnormality of the left ventricle | 0.6% | 1/167 |
| Abnormality of the vasculature | 0.6% | 1/167 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 58.8% | 97/165 |
| Constipation | 21.2% | 35/165 |
| Diarrhea | 3.0% | 5/165 |
| Gastroesophageal reflux | 13.9% | 23/165 |
| Feeding difficulties | 10.9% | 18/165 |
| Feeding difficulties in infancy | 18.2% | 30/165 |
| Lactose intolerance | 1.2% | 2/165 |
| Aspiration | 0.6% | 1/165 |
| Gastrostomy tube feeding in infancy | 1.8% | 3/165 |
| Inguinal hernia | 2.4% | 4/165 |
| Hiatus hernia | 0.6% | 1/165 |
| Esophagitis | 0.6% | 1/165 |
| Nasogastric tube feeding in infancy | 1.8% | 3/165 |
| Pyloric stenosis | 1.2% | 2/165 |
| Laryngomalacia | 1.2% | 2/165 |
| Umbilical hernia | 3.6% | 6/165 |
| Episodic vomiting | 0.6% | 1/165 |
| Abnormality of the intestine | 1.2% | 2/165 |
| Hernia of the abdominal wall | 1.2% | 2/165 |
| Anal fistula | 0.6% | 1/165 |
| Poor suck | 1.8% | 3/165 |
| Failure to thrive in infancy | 1.2% | 2/165 |
| Failure to thrive | 1.2% | 2/165 |
| Dehydration | 0.6% | 1/165 |
| Cow milk allergy | 0.6% | 1/165 |
| Malnutrition | 0.6% | 1/165 |
| Intestinal malrotation | 0.6% | 1/165 |
| Vomiting | 0.6% | 1/165 |
| Hyperinsulinemia | 0.6% | 1/165 |
| Intestinal lymphangiectasia | 0.6% | 1/165 |
| Intestinal obstruction | 0.6% | 1/165 |
| Abnormality of the gastrointestinal tract | 0.6% | 1/165 |
| Abnormal vascular physiology | 0.6% | 1/165 |
| Urogenital | ||
| Abnormality of the urogenital system | 38.7% | 60/155 |
| Abnormality of the urinary system | 1.3% | 2/155 |
| Bilateral cryptorchidism | 11.6% | 18/155 |
| Inguinal hernia | 1.3% | 2/155 |
| Enuresis nocturna | 0.6% | 1/155 |
| Proteinuria | 0.6% | 1/155 |
| Unilateral cryptorchidism | 7.1% | 11/155 |
| Abnormality of the kidney | 0.6% | 1/155 |
| Cryptorchidism | 8.4% | 13/155 |
| Aplasia of the uterus | 0.6% | 1/155 |
| Aplasia of the upper vagina | 0.6% | 1/155 |
| Vesicoureteral reflux | 0.6% | 1/155 |
| Nephrolithiasis | 2.6% | 4/155 |
| Hydronephrosis | 1.9% | 3/155 |
| Retractile testis | 1.9% | 3/155 |
| Abnormality of the testis | 0.6% | 1/155 |
| Abnormality of the penis | 1.3% | 2/155 |
| Increased size of the clitoris | 1.3% | 2/155 |
| Hydrocele testis | 0.6% | 1/155 |
| Urinary retention | 0.6% | 1/155 |
| Hypoplastic male external genitalia | 0.6% | 1/155 |
| Webbed penis | 0.6% | 1/155 |
| Scrotal hypoplasia | 0.6% | 1/155 |
| Pyelonephritis | 0.6% | 1/155 |
| Clitoral hypertrophy | 0.6% | 1/155 |
| Hydroureter | 0.6% | 1/155 |
| Nephrocalcinosis | 0.6% | 1/155 |
| Stage 5 chronic kidney disease | 0.6% | 1/155 |
| Abnormality of the urinary system physiology | 0.6% | 1/155 |
| Skeleton | ||
| Skeletal abnormalities | 86.1% | 161/187 |
| Clinodactyly | 15.5% | 29/187 |
| Hip dislocation | 0.5% | 1/187 |
| Short 5th finger | 11.2% | 21/187 |
| Short phalanx of finger | 9.1% | 17/187 |
| Short distal phalanx of finger | 12.3% | 23/187 |
| Delayed skeletal maturation | 10.7% | 20/187 |
| Scoliosis | 21.9% | 41/187 |
| Prominent interphalangeal joints | 13.9% | 26/187 |
| Abnormality of the neck | 6.4% | 12/187 |
| Abnormality of the sternum | 5.3% | 10/187 |
| Adducted thumb | 0.5% | 1/187 |
| Long hallux | 7.0% | 13/187 |
| Arthritis | 2.1% | 4/187 |
| Brachydactyly syndrome | 8.6% | 16/187 |
| Abnormality of the distal phalanx of the 5th finger | 20.3% | 38/187 |
| Triphalangeal thumb | 1.1% | 2/187 |
| Sandal gap | 11.2% | 21/187 |
| Cone-shaped epiphysis | 1.6% | 3/187 |
| Abnormality of the phalanges of the 5th finger | 0.5% | 1/187 |
| Aplasia/Hypoplasia of the phalanges of the 5th toe | 0.5% | 1/187 |
| Symphalangism affecting the phalanges of the 5th toe | 0.5% | 1/187 |
| Hyperlordosis | 1.1% | 2/187 |
| Pes planus | 3.2% | 6/187 |
| Aplasia/Hypoplasia of the phalanges of the hand | 1.1% | 2/187 |
| Patellar dislocation | 1.6% | 3/187 |
| Prominent fingertip pads | 3.2% | 6/187 |
| Accelerated skeletal maturation | 1.1% | 2/187 |
| Aplasia/Hypoplasia of fingers | 0.5% | 1/187 |
| Joint hypermobility | 1.6% | 3/187 |
| Aplasia/Hypoplasia of the distal phalanges of the hand | 0.5% | 1/187 |
| Talipes valgus | 0.5% | 1/187 |
| Aplasia/Hypoplasia of the distal phalanges of the toes | 0.5% | 1/187 |
| Short metacarpal | 1.1% | 2/187 |
| Short metatarsal | 1.1% | 2/187 |
| Camptodactyly of finger | 0.5% | 1/187 |
| Short hallux | 0.5% | 1/187 |
| Spondylolysis | 0.5% | 1/187 |
| Short sternum | 0.5% | 1/187 |
| Abnormality of the thumb | 1.6% | 3/187 |
| Abnormality of the vertebrae | 0.5% | 1/187 |
| Aplasia/Hypoplasia of the 2nd finger | 0.5% | 1/187 |
| Overlapping toe | 0.5% | 1/187 |
| Sparse scalp hair | 0.5% | 1/187 |
| Thick hair | 0.5% | 1/187 |
| Hypertrichosis | 0.5% | 1/187 |
| Aplasia/Hypoplasia of the nails | 0.5% | 1/187 |
| Valgus foot deformity | 0.5% | 1/187 |
| Broad foot | 0.5% | 1/187 |
| Deep plantar creases | 0.5% | 1/187 |
| Broad distal phalanges of all fingers | 0.5% | 1/187 |
| Broad distal phalanx of finger | 1.1% | 2/187 |
| Shortening of all phalanges of fingers | 0.5% | 1/187 |
| Shortening of all phalanges of the toes | 0.5% | 1/187 |
| Clinodactyly of the 5th finger | 1.6% | 3/187 |
| Proximal placement of thumb | 0.5% | 1/187 |
| Abnormal joint morphology | 0.5% | 1/187 |
| Short stature | 5.3% | 10/187 |
| Abnormal metacarpal morphology | 0.5% | 1/187 |
| Toe walking | 0.5% | 1/187 |
| Short distal phalanx of the 5th finger | 1.1% | 2/187 |
| Microcephaly | 2.7% | 5/187 |
| Brachycephaly | 3.2% | 6/187 |
| Broad hallux | 1.6% | 3/187 |
| Short finger | 1.6% | 3/187 |
| Congenital hip dislocation | 0.5% | 1/187 |
| Plagiocephaly | 2.7% | 5/187 |
| Genu valgum | 1.1% | 2/187 |
| Rocker bottom foot | 0.5% | 1/187 |
| Pectus excavatum | 2.7% | 5/187 |
| Short toe | 1.1% | 2/187 |
| Flat occiput | 0.5% | 1/187 |
| Abnormality of the scapula | 0.5% | 1/187 |
| Limited elbow extension | 0.5% | 1/187 |
| Short neck | 1.1% | 2/187 |
| Single transverse palmar crease | 2.1% | 4/187 |
| Macrocephaly | 0.5% | 1/187 |
| Metatarsus adductus | 0.5% | 1/187 |
| Abnormality of the distal phalanx of finger | 1.1% | 2/187 |
| Frontal bossing | 1.6% | 3/187 |
| Dolichocephaly | 1.1% | 2/187 |
| Joint laxity | 2.1% | 4/187 |
| Long toe | 0.5% | 1/187 |
| Abnormality of the calvaria | 0.5% | 1/187 |
| Hallux valgus | 1.1% | 2/187 |
| Abnormality of the occipital bone | 0.5% | 1/187 |
| Rhizomelic leg shortening | 0.5% | 1/187 |
| Rhizomelic arm shortening | 0.5% | 1/187 |
| Delayed eruption of primary teeth | 1.1% | 2/187 |
| Central hypotonia | 1.1% | 2/187 |
| Abnormal cervical curvature | 0.5% | 1/187 |
| Broad thumb | 1.6% | 3/187 |
| Kyphosis | 0.5% | 1/187 |
| Widely spaced teeth | 1.1% | 2/187 |
| Delayed eruption of permanent teeth | 1.1% | 2/187 |
| Hypodontia | 0.5% | 1/187 |
| Oligodontia | 0.5% | 1/187 |
| Gingival overgrowth | 0.5% | 1/187 |
| Carious teeth | 0.5% | 1/187 |
| Thoracic scoliosis | 0.5% | 1/187 |
| Coronal craniosynostosis | 0.5% | 1/187 |
| Lambdoidal craniosynostosis | 0.5% | 1/187 |
| Bilateral elbow dislocations | 0.5% | 1/187 |
| Inguinal hernia | 0.5% | 1/187 |
| Wide intermamillary distance | 0.5% | 1/187 |
| Micrognathia | 0.5% | 1/187 |
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger | 0.5% | 1/187 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 95.3% | 182/191 |
| Low posterior hairline | 11.5% | 22/191 |
| Sparse scalp hair | 38.2% | 73/191 |
| Fine hair | 2.1% | 4/191 |
| Hypertrichosis | 60.7% | 116/191 |
| Prominent fingertip pads | 13.6% | 26/191 |
| Hemangioma | 1.0% | 2/191 |
| Low anterior hairline | 29.8% | 57/191 |
| Wide intermamillary distance | 4.7% | 9/191 |
| Generalized hypertrichosis | 6.3% | 12/191 |
| Small nail | 6.8% | 13/191 |
| Abnormal position of hair whorl | 0.5% | 1/191 |
| Eczema | 10.5% | 20/191 |
| Thick hair | 18.8% | 36/191 |
| Hypoplastic fifth fingernail | 24.1% | 46/191 |
| Hypoplastic toenails | 6.3% | 12/191 |
| Hypoplastic fifth toenail | 6.8% | 13/191 |
| Atopic dermatitis | 5.2% | 10/191 |
| Abnormality of the distal phalanx of the 5th finger | 0.5% | 1/191 |
| Short distal phalanx of finger | 0.5% | 1/191 |
| Hypoplastic fingernail | 4.7% | 9/191 |
| Urticaria | 0.5% | 1/191 |
| Bilateral single transverse palmar creases | 0.5% | 1/191 |
| Deep palmar crease | 0.5% | 1/191 |
| Striae distensae | 0.5% | 1/191 |
| Hyperextensible skin | 0.5% | 1/191 |
| Cutis marmorata | 1.6% | 3/191 |
| Sparse hair | 1.0% | 2/191 |
| Excessive wrinkled skin | 2.1% | 4/191 |
| Thin fingernail | 1.0% | 2/191 |
| Thin toenail | 0.5% | 1/191 |
| Thin nail | 1.0% | 2/191 |
| Numerous nevi | 1.0% | 2/191 |
| Cafe-au-lait spot | 1.0% | 2/191 |
| Single transverse palmar crease | 2.1% | 4/191 |
| Nevus | 1.0% | 2/191 |
| Hirsutism | 0.5% | 1/191 |
| Abnormality of the skin | 0.5% | 1/191 |
| Aplasia/Hypoplasia of the nails | 2.1% | 4/191 |
| Hyperpigmentation of the skin | 0.5% | 1/191 |
| Depigmentation/hyperpigmentation of skin | 0.5% | 1/191 |
| Thick eyebrow | 0.5% | 1/191 |
| Alopecia | 0.5% | 1/191 |
| Thoracic hypertrichosis | 1.0% | 2/191 |
| Abnormality of the scalp hair | 1.6% | 3/191 |
| Frontal hirsutism | 0.5% | 1/191 |
| Webbed neck | 0.5% | 1/191 |
| Thickened skin | 1.0% | 2/191 |
| Abnormally lax or hyperextensible skin | 1.0% | 2/191 |
| Neoplasm of the skin | 0.5% | 1/191 |
| Hyperkeratosis | 1.6% | 3/191 |
| Irregular hyperpigmentation | 0.5% | 1/191 |
| Spotty hyperpigmentation | 0.5% | 1/191 |
| Sacral dimple | 1.0% | 2/191 |
| Facial hirsutism | 0.5% | 1/191 |
| Melanocytic nevus | 0.5% | 1/191 |
| Localized hirsutism | 0.5% | 1/191 |
| Pallor | 0.5% | 1/191 |
| Skin tags | 0.5% | 1/191 |
| Hypopigmentation of the skin | 1.0% | 2/191 |
| Clinodactyly of the 5th finger | 0.5% | 1/191 |
| Localized skin lesion | 0.5% | 1/191 |
| Premature skin wrinkling | 0.5% | 1/191 |
| Absent fifth toenail | 0.5% | 1/191 |
| Absent fifth fingernail | 0.5% | 1/191 |
| Multiple cafe-au-lait spots | 0.5% | 1/191 |
| Curly hair | 0.5% | 1/191 |
| Increased body weight | 0.5% | 1/191 |
| Congenital, generalized hypertrichosis | 0.5% | 1/191 |
| Elbow hypertrichosis | 0.5% | 1/191 |
| Facial hypertrichosis | 0.5% | 1/191 |
| Polyhydramnios | 0.5% | 1/191 |
| Abnormality of hair growth rate | 0.5% | 1/191 |
| Slow-growing scalp hair | 0.5% | 1/191 |
| Slow-growing nails | 0.5% | 1/191 |
| Clinodactyly | 0.5% | 1/191 |
| Short 5th finger | 0.5% | 1/191 |
| Sacral hypertrichosis | 0.5% | 1/191 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 20.6% | 28/136 |
| Type II diabetes mellitus | 1.5% | 2/136 |
| Growth hormone deficiency | 5.9% | 8/136 |
| Hypothyroidism | 9.6% | 13/136 |
| Congenital hypothyroidism | 0.7% | 1/136 |
| Diabetes mellitus | 1.5% | 2/136 |
| Puberty and gonadal disorders | 0.7% | 1/136 |
| Gynecomastia | 0.7% | 1/136 |
| Type I diabetes mellitus | 0.7% | 1/136 |
| Compensated hypothyroidism | 1.5% | 2/136 |
| Increased serum free triiodothyronine (fT3) | 0.7% | 1/136 |
| Abnormality of thyroid physiology | 0.7% | 1/136 |
| Central hypothyroidism | 0.7% | 1/136 |
| Abnormality of the metabolic system | 7.4% | 10/136 |
| Diabetes mellitus | 0.7% | 1/136 |
| Hypercalciuria | 0.7% | 1/136 |
| Hyperglycemia | 0.7% | 1/136 |
| Hypomagnesemia | 0.7% | 1/136 |
| Hypocalcemia | 0.7% | 1/136 |
| Neonatal hypoglycemia | 0.7% | 1/136 |
| Type I diabetes mellitus | 0.7% | 1/136 |
| Hypercholesterolemia | 1.5% | 2/136 |
| Anemia | 0.7% | 1/136 |
| Vitamin B12 deficiency | 0.7% | 1/136 |
| Hypercalcemia | 0.7% | 1/136 |
| Abnormality of the immune system | 35.4% | 57/161 |
| Recurrent otitis media | 8.1% | 13/161 |
| Recurrent upper respiratory tract infections | 8.1% | 13/161 |
| Recurrent infections | 14.9% | 24/161 |
| Recurrent urinary tract infections | 0.6% | 1/161 |
| Recurrent lower respiratory tract infections | 1.9% | 3/161 |
| Conjunctivitis | 0.6% | 1/161 |
| Recurrent upper and lower respiratory tract infections | 0.6% | 1/161 |
| Bronchiolitis | 0.6% | 1/161 |
| Allergy | 1.2% | 2/161 |
| Decreased antibody level in blood | 0.6% | 1/161 |
| Eosinophilia | 0.6% | 1/161 |
| Recurrent respiratory infections | 1.9% | 3/161 |
| Otitis media | 0.6% | 1/161 |
| Recurrent bronchitis | 0.6% | 1/161 |
| Eczema | 0.6% | 1/161 |
| Respiratory infections in early life | 0.6% | 1/161 |
| Recurrent bronchopulmonary infections | 0.6% | 1/161 |
| Lymphopenia | 0.6% | 1/161 |
| Panhypogammaglobulinemia | 0.6% | 1/161 |
| Asthma | 0.6% | 1/161 |
| Neoplasia | ||
| Neoplasia | 0.5% | 1/192 |
| Sertoli cell neoplasm | 0.5% | 1/192 |
| Leydig cell neoplasia | 0.5% | 1/192 |
| Brain neoplasm | 0.5% | 1/192 |