ARID1B
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 51.1% | 115/225 |
| Female | 48.9% | 110/225 |
| General | ||
| Motor delay | 98.9% | 182/184 |
| Bilateral cryptorchidism | 0.5% | 1/184 |
| Abnormal renal morphology | 0.5% | 1/184 |
| Hydronephrosis | 0.5% | 1/184 |
| Intellectual disabillity | 98.1% | 204/208 |
| Bilateral cryptorchidism | 0.5% | 1/208 |
| Abnormal renal morphology | 0.5% | 1/208 |
| Hydronephrosis | 0.5% | 1/208 |
| Neurology | ||
| Neurological abnormalities | 85.1% | 172/202 |
| Seizures | 16.3% | 33/202 |
| Absence seizures | 2.0% | 4/202 |
| Febrile seizures | 3.5% | 7/202 |
| Generalized hypotonia | 19.3% | 39/202 |
| Impaired pain sensation | 5.9% | 12/202 |
| Generalized tonic-clonic seizures | 7.4% | 15/202 |
| EEG abnormality | 4.0% | 8/202 |
| Neonatal hypotonia | 8.9% | 18/202 |
| Atonic seizures | 0.5% | 1/202 |
| Muscular hypotonia | 30.7% | 62/202 |
| Abnormality of pain sensation | 2.5% | 5/202 |
| Poor fine motor coordination | 1.0% | 2/202 |
| Focal seizures with impairment of consciousness or awareness | 2.5% | 5/202 |
| Focal seizures | 1.0% | 2/202 |
| Headache | 0.5% | 1/202 |
| Generalized tonic seizures | 1.0% | 2/202 |
| Generalized myoclonic seizures | 1.0% | 2/202 |
| Unsteady gait | 0.5% | 1/202 |
| Developmental regression | 1.0% | 2/202 |
| Gait imbalance | 0.5% | 1/202 |
| Cerebral palsy | 0.5% | 1/202 |
| Broad-based gait | 1.0% | 2/202 |
| Ataxia | 0.5% | 1/202 |
| Infantile axial hypotonia | 0.5% | 1/202 |
| Hyperreflexia | 1.5% | 3/202 |
| Motor delay | 2.0% | 4/202 |
| Muscular hypotonia of the trunk | 0.5% | 1/202 |
| Global developmental delay | 0.5% | 1/202 |
| Lower limb hyperreflexia | 1.0% | 2/202 |
| Visual agnosia | 3.5% | 7/202 |
| Impaired visuospatial constructive cognition | 3.5% | 7/202 |
| Astereognosia | 3.5% | 7/202 |
| Lower limb hypertonia | 1.0% | 2/202 |
| Upper limb hypertonia | 1.0% | 2/202 |
| Infantile muscular hypotonia | 0.5% | 1/202 |
| Torticollis | 0.5% | 1/202 |
| Oromandibular dystonia | 0.5% | 1/202 |
| Exercise intolerance | 0.5% | 1/202 |
| Poor gross motor coordination | 0.5% | 1/202 |
| Dysarthria | 0.5% | 1/202 |
| Gait disturbance | 0.5% | 1/202 |
| Postural instability | 0.5% | 1/202 |
| Dysmetria | 0.5% | 1/202 |
| Dysdiadochokinesis | 0.5% | 1/202 |
| Focal seizures without impairment of consciousness or awareness | 1.0% | 2/202 |
| Gait ataxia | 1.5% | 3/202 |
| Central hypotonia | 4.0% | 8/202 |
| Posterior fossa cyst | 0.5% | 1/202 |
| Abnormality of the subarachnoid space | 0.5% | 1/202 |
| Colpocephaly | 1.0% | 2/202 |
| Dysplastic corpus callosum | 0.5% | 1/202 |
| Widened subarachnoid space | 0.5% | 1/202 |
| Partial agenesis of the corpus callosum | 0.5% | 1/202 |
| Delayed myelination | 1.0% | 2/202 |
| Abnormality of the corpus callosum | 0.5% | 1/202 |
| Agenesis of corpus callosum | 0.5% | 1/202 |
| Gait apraxia | 0.5% | 1/202 |
| Hypertonia | 0.5% | 1/202 |
| Generalized seizures | 0.5% | 1/202 |
| Behavioral problems | 67.8% | 122/180 |
| Short attention span | 11.1% | 20/180 |
| Anxiety | 2.8% | 5/180 |
| Hyperactivity | 24.4% | 44/180 |
| Attention deficit hyperactivity disorder | 13.9% | 25/180 |
| Autistic behavior | 32.8% | 59/180 |
| Hyperkinesis | 5.6% | 10/180 |
| Obsessive-compulsive behavior | 7.2% | 13/180 |
| Emotional lability | 1.1% | 2/180 |
| Abnormal emotion/affect behavior | 1.1% | 2/180 |
| Impulsivity | 5.0% | 9/180 |
| Violent behavior | 0.6% | 1/180 |
| Oral aversion | 1.1% | 2/180 |
| Abnormal fear/anxiety-related behavior | 7.8% | 14/180 |
| Autism | 6.7% | 12/180 |
| Obsessive-compulsive trait | 2.2% | 4/180 |
| Clumsiness | 0.6% | 1/180 |
| Aggressive behavior | 7.2% | 13/180 |
| Impaired social interactions | 7.8% | 14/180 |
| Behavioral abnormality | 2.8% | 5/180 |
| Inflexible adherence to routines or rituals | 1.1% | 2/180 |
| Abnormal social behavior | 3.3% | 6/180 |
| Sleep disturbance | 0.6% | 1/180 |
| Repetitive compulsive behavior | 0.6% | 1/180 |
| Stereotypic behavior | 7.2% | 13/180 |
| Poor eye contact | 0.6% | 1/180 |
| Impaired ability to form peer relationships | 0.6% | 1/180 |
| Shyness | 0.6% | 1/180 |
| Phonophobia | 0.6% | 1/180 |
| Restrictive behavior | 0.6% | 1/180 |
| Impaired social reciprocity | 2.8% | 5/180 |
| Overfriendliness | 0.6% | 1/180 |
| Abnormal aggressive, impulsive or violent behavior | 1.7% | 3/180 |
| Self-injurious behavior | 1.1% | 2/180 |
| Hyperacusis | 0.6% | 1/180 |
| Developmental regression | 0.6% | 1/180 |
| Absent speech | 0.6% | 1/180 |
| Restlessness | 0.6% | 1/180 |
| Rigidity | 0.6% | 1/180 |
| Agoraphobia | 0.6% | 1/180 |
| Impaired pain sensation | 0.6% | 1/180 |
| Brain abnormality | 73.0% | 116/159 |
| Enlarged cisterna magna | 6.3% | 10/159 |
| Brain atrophy | 0.6% | 1/159 |
| Abnormality of the periventricular white matter | 0.6% | 1/159 |
| Abnormality of the corpus callosum | 3.8% | 6/159 |
| Agenesis of corpus callosum | 21.4% | 34/159 |
| Ventriculomegaly | 1.9% | 3/159 |
| Dysplastic corpus callosum | 3.1% | 5/159 |
| Hypoplasia of the corpus callosum | 8.2% | 13/159 |
| Delayed myelination | 6.9% | 11/159 |
| Arachnoid cyst | 3.1% | 5/159 |
| Partial agenesis of the corpus callosum | 8.8% | 14/159 |
| Pachygyria | 0.6% | 1/159 |
| Colpocephaly | 5.0% | 8/159 |
| Abnormality of cerebral veins | 0.6% | 1/159 |
| Aplasia/Hypoplasia of the corpus callosum | 5.7% | 9/159 |
| Intracranial cystic lesion | 1.9% | 3/159 |
| Perivascular spaces | 1.3% | 2/159 |
| Prominent supraorbital ridges | 0.6% | 1/159 |
| Hypoplastic olfactory lobes | 0.6% | 1/159 |
| Choroid plexus cyst | 1.3% | 2/159 |
| Abnormality of the cerebral cortex | 0.6% | 1/159 |
| Abnormality of the cerebellum | 0.6% | 1/159 |
| Abnormality of the cerebral white matter | 0.6% | 1/159 |
| Abnormality of corpus cavernosum | 0.6% | 1/159 |
| Heterotopia | 1.3% | 2/159 |
| Polymicrogyria | 0.6% | 1/159 |
| Arnold-Chiari type I malformation | 1.9% | 3/159 |
| Lambdoidal craniosynostosis | 0.6% | 1/159 |
| Multiple suture craniosynostosis | 0.6% | 1/159 |
| Sagittal craniosynostosis | 0.6% | 1/159 |
| Cavum septum pellucidum | 0.6% | 1/159 |
| Neonatal hypotonia | 0.6% | 1/159 |
| Asymmetric ventricles | 0.6% | 1/159 |
| Cerebellar cyst | 3.1% | 5/159 |
| Cerebellar agenesis | 0.6% | 1/159 |
| Microcephaly | 0.6% | 1/159 |
| Hydrocephalus | 0.6% | 1/159 |
| Relative macrocephaly | 0.6% | 1/159 |
| Thick corpus callosum | 3.1% | 5/159 |
| Short corpus callosum | 3.8% | 6/159 |
| Cerebellar dysplasia | 0.6% | 1/159 |
| Attention deficit hyperactivity disorder | 1.3% | 2/159 |
| Retrocerebellar cyst | 3.1% | 5/159 |
| Subarachnoid hemorrhage | 0.6% | 1/159 |
| Abnormality of lateral ventricle | 0.6% | 1/159 |
| Abnormal length of corpus callosum | 0.6% | 1/159 |
| Enlarged fetal cisterna magna | 0.6% | 1/159 |
| Hypoplasia of the brainstem | 0.6% | 1/159 |
| Abnormality of midbrain morphology | 0.6% | 1/159 |
| Seizures | 0.6% | 1/159 |
| Aplasia/Hypoplasia of the cerebrum | 1.3% | 2/159 |
| Cerebellar hypoplasia | 1.3% | 2/159 |
| Dandy-Walker malformation | 0.6% | 1/159 |
| Absent septum pellucidum | 0.6% | 1/159 |
| Abnormality of neuronal migration | 0.6% | 1/159 |
| Talipes calcaneovarus | 0.6% | 1/159 |
| Encephalopathy | 0.6% | 1/159 |
| Neoplasm of the central nervous system | 0.6% | 1/159 |
| Cerebral hypoplasia | 0.6% | 1/159 |
| Bilateral intracranial calcifications | 0.6% | 1/159 |
| Abnormality of the pons | 0.6% | 1/159 |
| Hypoplasia of the pons | 0.6% | 1/159 |
| Abnormality of forebrain morphology | 0.6% | 1/159 |
| Aplasia/Hypoplasia involving the central nervous system | 0.6% | 1/159 |
| Hypodysplasia of the corpus callosum | 0.6% | 1/159 |
| Abnormality of the choroid | 0.6% | 1/159 |
| Facial abnormalities | ||
| Abnormality of the ear | 61.7% | 124/201 |
| Macrotia | 4.5% | 9/201 |
| Abnormality of the ear | 5.0% | 10/201 |
| Posteriorly rotated ears | 4.5% | 9/201 |
| Uplifted earlobe | 4.0% | 8/201 |
| Abnormality of earlobe | 1.0% | 2/201 |
| Overfolded helix | 1.5% | 3/201 |
| Forward facing earlobe | 1.5% | 3/201 |
| Cupped ear | 1.0% | 2/201 |
| Protruding ear | 5.5% | 11/201 |
| Low-set ears | 12.9% | 26/201 |
| Underdeveloped superior crus of antihelix | 1.5% | 3/201 |
| Abnormality of the pinna | 10.4% | 21/201 |
| Long eyelashes | 0.5% | 1/201 |
| Thick eyebrow | 0.5% | 1/201 |
| Abnormality of the outer ear | 4.5% | 9/201 |
| Low-set, posteriorly rotated ears | 8.0% | 16/201 |
| External ear malformation | 3.0% | 6/201 |
| Large earlobe | 0.5% | 1/201 |
| Small earlobe | 1.0% | 2/201 |
| Thickened helices | 1.0% | 2/201 |
| Asymmetry of the ears | 0.5% | 1/201 |
| Abnormal location of ears | 1.0% | 2/201 |
| Abnormality of periauricular region | 0.5% | 1/201 |
| Satyr ear | 0.5% | 1/201 |
| Preauricular pit | 1.5% | 3/201 |
| Cholesteatoma | 1.0% | 2/201 |
| Mild hearing impairment | 0.5% | 1/201 |
| Recurrent otitis media | 0.5% | 1/201 |
| Recurrent infections of the middle ear | 0.5% | 1/201 |
| Periauricular skin pits | 0.5% | 1/201 |
| Prominent crus of helix | 0.5% | 1/201 |
| Absent earlobe | 0.5% | 1/201 |
| Prominent ear helix | 0.5% | 1/201 |
| Microtia | 0.5% | 1/201 |
| Long ear | 0.5% | 1/201 |
| Abnormality of the eye | 88.3% | 182/206 |
| Long eyelashes | 48.1% | 99/206 |
| Bilateral ptosis | 3.9% | 8/206 |
| Periorbital wrinkles | 8.3% | 17/206 |
| Highly arched eyebrow | 1.9% | 4/206 |
| Muscular hypotonia of the trunk | 0.5% | 1/206 |
| Thick eyebrow | 59.7% | 123/206 |
| Downslanted palpebral fissures | 13.6% | 28/206 |
| Epicanthus | 5.8% | 12/206 |
| Upslanted palpebral fissure | 6.3% | 13/206 |
| Long palpebral fissure | 3.4% | 7/206 |
| Ptosis | 7.8% | 16/206 |
| Synophrys | 7.8% | 16/206 |
| Short eyelashes | 0.5% | 1/206 |
| Facial wrinkling | 2.4% | 5/206 |
| Small palpebral fissure | 2.9% | 6/206 |
| Abnormality of the lacrimal duct | 2.9% | 6/206 |
| Unilateral ptosis | 2.9% | 6/206 |
| Lower eyelid edema | 0.5% | 1/206 |
| Short palpebral fissure | 1.9% | 4/206 |
| Long eyebrows | 0.5% | 1/206 |
| Excessive wrinkled skin | 0.5% | 1/206 |
| Prominent epicanthal folds | 0.5% | 1/206 |
| Strabismus | 3.9% | 8/206 |
| Broad forehead | 0.5% | 1/206 |
| High forehead | 0.5% | 1/206 |
| Hypertelorism | 2.9% | 6/206 |
| Prominent eyelashes | 3.4% | 7/206 |
| Blue sclerae | 0.5% | 1/206 |
| Exotropia | 0.5% | 1/206 |
| Congenital ptosis | 0.5% | 1/206 |
| Lacrimal duct stenosis | 0.5% | 1/206 |
| Esotropia | 1.0% | 2/206 |
| Abnormality of the eyelashes | 0.5% | 1/206 |
| Horizontal nystagmus | 0.5% | 1/206 |
| Nasolacrimal duct obstruction | 1.0% | 2/206 |
| Proptosis | 1.5% | 3/206 |
| Deeply set eye | 0.5% | 1/206 |
| Lisch nodules | 0.5% | 1/206 |
| Abnormality of the periorbital region | 1.0% | 2/206 |
| Redundant skin | 0.5% | 1/206 |
| Abnormality of the nasolacrimal system | 0.5% | 1/206 |
| Periorbital fullness | 0.5% | 1/206 |
| Medial flaring of the eyebrow | 0.5% | 1/206 |
| Abnormality of the nose | 79.3% | 161/203 |
| Wide nasal bridge | 24.6% | 50/203 |
| Depressed nasal bridge | 13.3% | 27/203 |
| Anteverted nares | 18.7% | 38/203 |
| Short nose | 11.8% | 24/203 |
| Long nose | 8.9% | 18/203 |
| Thick nasal alae | 28.1% | 57/203 |
| Wide nasal base | 21.2% | 43/203 |
| Thick lower lip vermilion | 1.0% | 2/203 |
| Broad nasal tip | 43.3% | 88/203 |
| Abnormality of the nasal alae | 0.5% | 1/203 |
| Abnormality of the columella | 0.5% | 1/203 |
| Narrow nasal tip | 1.5% | 3/203 |
| Underdeveloped nasal alae | 0.5% | 1/203 |
| Prominent nasal tip | 2.5% | 5/203 |
| Bulbous nose | 4.4% | 9/203 |
| Abnormality of the nasal bridge | 0.5% | 1/203 |
| Long philtrum | 1.5% | 3/203 |
| Nasal polyposis | 0.5% | 1/203 |
| Nasal obstruction | 0.5% | 1/203 |
| Thin upper lip vermilion | 0.5% | 1/203 |
| Thin lower lip vermilion | 0.5% | 1/203 |
| Thick upper lip vermilion | 0.5% | 1/203 |
| Hypodontia | 0.5% | 1/203 |
| Narrow nasal base | 0.5% | 1/203 |
| Abnormality of the nasal tip | 0.5% | 1/203 |
| Narrow nasal bridge | 0.5% | 1/203 |
| Prominent nasal bridge | 1.0% | 2/203 |
| Prominent nose | 0.5% | 1/203 |
| Thick vermilion border | 0.5% | 1/203 |
| Papule | 0.5% | 1/203 |
| Retrognathia | 0.5% | 1/203 |
| Flat nasal alae | 0.5% | 1/203 |
| Broad philtrum | 0.5% | 1/203 |
| Abnormal nasal morphology | 0.5% | 1/203 |
| Wide nose | 1.0% | 2/203 |
| Low hanging columella | 0.5% | 1/203 |
| Abnormality of the mouth | 92.7% | 190/205 |
| Long philtrum | 25.9% | 53/205 |
| Wide mouth | 54.1% | 111/205 |
| Thick upper lip vermilion | 21.0% | 43/205 |
| Thick lower lip vermilion | 52.7% | 108/205 |
| Abnormality of dental enamel | 1.0% | 2/205 |
| Prominent palatine ridges | 0.5% | 1/205 |
| Delayed eruption of primary teeth | 12.2% | 25/205 |
| Delayed eruption of permanent teeth | 6.8% | 14/205 |
| Widely spaced teeth | 14.1% | 29/205 |
| Thin upper lip vermilion | 28.8% | 59/205 |
| Everted lower lip vermilion | 20.5% | 42/205 |
| Hypodontia | 3.9% | 8/205 |
| High palate | 10.7% | 22/205 |
| Broad philtrum | 18.0% | 37/205 |
| Short philtrum | 13.7% | 28/205 |
| Bifid uvula | 2.0% | 4/205 |
| Cleft palate | 4.9% | 10/205 |
| Mandibular prognathia | 1.0% | 2/205 |
| Gingival overgrowth | 5.4% | 11/205 |
| Everted upper lip vermilion | 0.5% | 1/205 |
| Ankyloglossia | 0.5% | 1/205 |
| Advanced eruption of teeth | 0.5% | 1/205 |
| Open mouth | 2.0% | 4/205 |
| Abnormality of mouth size | 0.5% | 1/205 |
| Coarse facial features | 2.4% | 5/205 |
| Abnormality of the gingiva | 0.5% | 1/205 |
| Abnormality of the philtrum | 1.5% | 3/205 |
| Microdontia | 2.0% | 4/205 |
| Misalignment of teeth | 0.5% | 1/205 |
| Widely spaced primary teeth | 0.5% | 1/205 |
| Excessive salivation | 0.5% | 1/205 |
| Overbite | 0.5% | 1/205 |
| Macroglossia | 2.4% | 5/205 |
| Thin lower lip vermilion | 0.5% | 1/205 |
| Submucous cleft soft palate | 0.5% | 1/205 |
| Short chin | 0.5% | 1/205 |
| Micrognathia | 4.4% | 9/205 |
| Downturned corners of mouth | 0.5% | 1/205 |
| Widely-spaced incisors | 0.5% | 1/205 |
| Thick vermilion border | 0.5% | 1/205 |
| Protruding tongue | 0.5% | 1/205 |
| Smooth philtrum | 0.5% | 1/205 |
| Carious teeth | 1.0% | 2/205 |
| Submucous cleft lip | 0.5% | 1/205 |
| Conical tooth | 0.5% | 1/205 |
| Retrognathia | 0.5% | 1/205 |
| Small, conical teeth | 0.5% | 1/205 |
| Dental malocclusion | 0.5% | 1/205 |
| Absent speech | 0.5% | 1/205 |
| High, narrow palate | 1.0% | 2/205 |
| Abnormality of the tongue | 0.5% | 1/205 |
| Growth delay | 0.5% | 1/205 |
| Pes planus | 0.5% | 1/205 |
| Cleft soft palate | 0.5% | 1/205 |
| Visual and hearing impairments | ||
| Abnormal hearing | 25.5% | 49/192 |
| Bilateral conductive hearing impairment | 1.6% | 3/192 |
| Hearing impairment | 14.1% | 27/192 |
| Otitis media | 0.5% | 1/192 |
| Conductive hearing impairment | 3.6% | 7/192 |
| Hyperacusis | 0.5% | 1/192 |
| Abnormality of the middle ear | 0.5% | 1/192 |
| Sensorineural hearing impairment | 0.5% | 1/192 |
| Severe hearing impairment | 0.5% | 1/192 |
| Mild hearing impairment | 1.0% | 2/192 |
| Abnormality of the tympanic membrane | 0.5% | 1/192 |
| Mixed hearing impairment | 0.5% | 1/192 |
| Bilateral sensorineural hearing impairment | 1.6% | 3/192 |
| Moderate sensorineural hearing impairment | 1.6% | 3/192 |
| Severe sensorineural hearing impairment | 1.0% | 2/192 |
| Moderate conductive hearing impairment | 0.5% | 1/192 |
| Mild conductive hearing impairment | 0.5% | 1/192 |
| Unilateral | 0.5% | 1/192 |
| Recurrent otitis media | 0.5% | 1/192 |
| Glue ear | 2.6% | 5/192 |
| Hearing abnormality | 0.5% | 1/192 |
| Abnormal vision | 56.0% | 102/182 |
| Nystagmus | 3.8% | 7/182 |
| Severe Myopia | 6.0% | 11/182 |
| Myopia | 21.4% | 39/182 |
| Visual impairment | 7.7% | 14/182 |
| Astigmatism | 7.1% | 13/182 |
| Abnormality of refraction | 3.3% | 6/182 |
| Hypermetropia | 6.0% | 11/182 |
| Esotropia | 0.5% | 1/182 |
| Strabismus | 12.1% | 22/182 |
| Unilateral strabismus | 1.6% | 3/182 |
| Optic nerve hypoplasia | 1.1% | 2/182 |
| Coloboma | 0.5% | 1/182 |
| Corneal ulceration | 0.5% | 1/182 |
| Blurred vision | 0.5% | 1/182 |
| Cortical visual impairment | 0.5% | 1/182 |
| Exotropia | 2.2% | 4/182 |
| Amblyopia | 1.1% | 2/182 |
| Optic nerve coloboma | 0.5% | 1/182 |
| Increased intraocular pressure | 0.5% | 1/182 |
| Cataract | 0.5% | 1/182 |
| Abnormality of the optic disc | 0.5% | 1/182 |
| Peripapillary chorioretinal atrophy | 0.5% | 1/182 |
| Keratoconus | 0.5% | 1/182 |
| Congenital cataract | 0.5% | 1/182 |
| Abnormality of vision | 1.1% | 2/182 |
| Heart | ||
| Abnormality of the heart | 25.3% | 45/178 |
| Atria septal defect | 10.1% | 18/178 |
| Mitral regurgitation | 1.7% | 3/178 |
| Atrioventricular block | 0.6% | 1/178 |
| Patent foramen ovale | 2.2% | 4/178 |
| Ventricular septal defect | 4.5% | 8/178 |
| Abnormality of the tricuspid valve | 0.6% | 1/178 |
| Atrioventricular canal defect | 0.6% | 1/178 |
| Coarctation of aorta | 1.1% | 2/178 |
| Bicuspid aortic valve | 1.1% | 2/178 |
| Abnormality of the aortic valve | 1.7% | 3/178 |
| Abnormality of the atrial septum | 1.1% | 2/178 |
| Cyanosis | 0.6% | 1/178 |
| Bradycardia | 0.6% | 1/178 |
| Heart murmur | 1.7% | 3/178 |
| Non-restrictive ventricular septal defect | 0.6% | 1/178 |
| Patent ductus arteriosus | 0.6% | 1/178 |
| Secundum atrial septal defect | 0.6% | 1/178 |
| Left-to-right shunt | 0.6% | 1/178 |
| Abnormal heart morphology | 1.1% | 2/178 |
| Abnormality of the cardiac septa | 0.6% | 1/178 |
| Right ventricular dilatation | 0.6% | 1/178 |
| Primum atrial septal defect | 0.6% | 1/178 |
| Abnormality of the aortic arch | 1.1% | 2/178 |
| Abnormality of the left ventricle | 0.6% | 1/178 |
| Abnormality of the vasculature | 0.6% | 1/178 |
| Pulmonary | ||
| Abnormality of the lungs | 10.0% | 1/10 |
| Asthma | 10.0% | 1/10 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 60.0% | 108/180 |
| Constipation | 21.7% | 39/180 |
| Diarrhea | 2.8% | 5/180 |
| Gastroesophageal reflux | 13.3% | 24/180 |
| Feeding difficulties | 11.1% | 20/180 |
| Feeding difficulties in infancy | 16.7% | 30/180 |
| Lactose intolerance | 1.1% | 2/180 |
| Aspiration | 0.6% | 1/180 |
| Gastrostomy tube feeding in infancy | 1.7% | 3/180 |
| Inguinal hernia | 2.8% | 5/180 |
| Hiatus hernia | 0.6% | 1/180 |
| Esophagitis | 0.6% | 1/180 |
| Nasogastric tube feeding in infancy | 1.7% | 3/180 |
| Pyloric stenosis | 1.1% | 2/180 |
| Laryngomalacia | 1.1% | 2/180 |
| Umbilical hernia | 4.4% | 8/180 |
| Episodic vomiting | 0.6% | 1/180 |
| Abnormality of the intestine | 1.1% | 2/180 |
| Hernia of the abdominal wall | 1.1% | 2/180 |
| Anal fistula | 0.6% | 1/180 |
| Poor suck | 1.7% | 3/180 |
| Failure to thrive in infancy | 1.1% | 2/180 |
| Failure to thrive | 1.1% | 2/180 |
| Dehydration | 0.6% | 1/180 |
| Cow milk allergy | 0.6% | 1/180 |
| Malnutrition | 0.6% | 1/180 |
| Intestinal malrotation | 0.6% | 1/180 |
| Vomiting | 1.1% | 2/180 |
| Hyperinsulinemia | 0.6% | 1/180 |
| Intestinal lymphangiectasia | 0.6% | 1/180 |
| Intestinal obstruction | 0.6% | 1/180 |
| Celiac disease | 0.6% | 1/180 |
| Abnormality of the gastrointestinal tract | 0.6% | 1/180 |
| Abnormal vascular physiology | 0.6% | 1/180 |
| Ulcerative colitis | 0.6% | 1/180 |
| Hepatosplenomegaly | 0.6% | 1/180 |
| Urogenital | ||
| Abnormality of the urogenital system | 40.7% | 68/167 |
| Abnormality of the urinary system | 1.2% | 2/167 |
| Bilateral cryptorchidism | 13.2% | 22/167 |
| Inguinal hernia | 2.4% | 4/167 |
| Enuresis nocturna | 0.6% | 1/167 |
| Proteinuria | 0.6% | 1/167 |
| Unilateral cryptorchidism | 7.8% | 13/167 |
| Abnormality of the kidney | 0.6% | 1/167 |
| Cryptorchidism | 8.4% | 14/167 |
| Aplasia of the uterus | 0.6% | 1/167 |
| Aplasia of the upper vagina | 0.6% | 1/167 |
| Vesicoureteral reflux | 1.2% | 2/167 |
| Nephrolithiasis | 3.0% | 5/167 |
| Hydronephrosis | 2.4% | 4/167 |
| Retractile testis | 2.4% | 4/167 |
| Abnormality of the testis | 0.6% | 1/167 |
| Abnormality of the penis | 1.2% | 2/167 |
| Increased size of the clitoris | 1.2% | 2/167 |
| Hydrocele testis | 0.6% | 1/167 |
| Urinary retention | 0.6% | 1/167 |
| Hypoplastic male external genitalia | 0.6% | 1/167 |
| Webbed penis | 0.6% | 1/167 |
| Scrotal hypoplasia | 0.6% | 1/167 |
| Pyelonephritis | 0.6% | 1/167 |
| Clitoral hypertrophy | 0.6% | 1/167 |
| Hydroureter | 0.6% | 1/167 |
| Nephrocalcinosis | 0.6% | 1/167 |
| Stage 5 chronic kidney disease | 0.6% | 1/167 |
| Abnormality of the urinary system physiology | 0.6% | 1/167 |
| Abnormal renal morphology | 0.6% | 1/167 |
| Unilateral renal atrophy | 0.6% | 1/167 |
| Urethral valve | 0.6% | 1/167 |
| Skeleton | ||
| Skeletal abnormalities | 86.4% | 172/199 |
| Clinodactyly | 14.6% | 29/199 |
| Hip dislocation | 0.5% | 1/199 |
| Short 5th finger | 12.1% | 24/199 |
| Short phalanx of finger | 8.5% | 17/199 |
| Short distal phalanx of finger | 12.1% | 24/199 |
| Delayed skeletal maturation | 10.1% | 20/199 |
| Scoliosis | 21.1% | 42/199 |
| Prominent interphalangeal joints | 13.6% | 27/199 |
| Abnormality of the neck | 6.0% | 12/199 |
| Abnormality of the sternum | 5.5% | 11/199 |
| Adducted thumb | 0.5% | 1/199 |
| Long hallux | 6.5% | 13/199 |
| Arthritis | 2.0% | 4/199 |
| Brachydactyly syndrome | 8.5% | 17/199 |
| Abnormality of the distal phalanx of the 5th finger | 19.6% | 39/199 |
| Triphalangeal thumb | 1.0% | 2/199 |
| Sandal gap | 10.6% | 21/199 |
| Cone-shaped epiphysis | 1.5% | 3/199 |
| Abnormality of the phalanges of the 5th finger | 0.5% | 1/199 |
| Aplasia/Hypoplasia of the phalanges of the 5th toe | 0.5% | 1/199 |
| Symphalangism affecting the phalanges of the 5th toe | 0.5% | 1/199 |
| Hyperlordosis | 1.0% | 2/199 |
| Pes planus | 3.0% | 6/199 |
| Aplasia/Hypoplasia of the phalanges of the hand | 1.0% | 2/199 |
| Patellar dislocation | 1.5% | 3/199 |
| Prominent fingertip pads | 3.0% | 6/199 |
| Accelerated skeletal maturation | 1.0% | 2/199 |
| Aplasia/Hypoplasia of fingers | 0.5% | 1/199 |
| Joint hypermobility | 1.5% | 3/199 |
| Aplasia/Hypoplasia of the distal phalanges of the hand | 0.5% | 1/199 |
| Talipes valgus | 0.5% | 1/199 |
| Aplasia/Hypoplasia of the distal phalanges of the toes | 0.5% | 1/199 |
| Short metacarpal | 1.0% | 2/199 |
| Short metatarsal | 1.0% | 2/199 |
| Camptodactyly of finger | 0.5% | 1/199 |
| Short hallux | 0.5% | 1/199 |
| Spondylolysis | 0.5% | 1/199 |
| Short sternum | 0.5% | 1/199 |
| Abnormality of the thumb | 1.5% | 3/199 |
| Abnormality of the vertebrae | 0.5% | 1/199 |
| Aplasia/Hypoplasia of the 2nd finger | 0.5% | 1/199 |
| Overlapping toe | 0.5% | 1/199 |
| Sparse scalp hair | 0.5% | 1/199 |
| Thick hair | 0.5% | 1/199 |
| Hypertrichosis | 0.5% | 1/199 |
| Aplasia/Hypoplasia of the nails | 0.5% | 1/199 |
| Valgus foot deformity | 0.5% | 1/199 |
| Broad foot | 0.5% | 1/199 |
| Deep plantar creases | 0.5% | 1/199 |
| Broad distal phalanges of all fingers | 0.5% | 1/199 |
| Broad distal phalanx of finger | 1.0% | 2/199 |
| Shortening of all phalanges of fingers | 0.5% | 1/199 |
| Shortening of all phalanges of the toes | 0.5% | 1/199 |
| Clinodactyly of the 5th finger | 2.0% | 4/199 |
| Proximal placement of thumb | 0.5% | 1/199 |
| Abnormal joint morphology | 0.5% | 1/199 |
| Short stature | 6.5% | 13/199 |
| Abnormal metacarpal morphology | 0.5% | 1/199 |
| Toe walking | 0.5% | 1/199 |
| Short distal phalanx of the 5th finger | 1.5% | 3/199 |
| Microcephaly | 2.5% | 5/199 |
| Brachycephaly | 3.5% | 7/199 |
| Broad hallux | 1.5% | 3/199 |
| Short finger | 1.5% | 3/199 |
| Congenital hip dislocation | 0.5% | 1/199 |
| Plagiocephaly | 3.0% | 6/199 |
| Genu valgum | 1.0% | 2/199 |
| Rocker bottom foot | 0.5% | 1/199 |
| Pectus excavatum | 2.5% | 5/199 |
| Short toe | 1.0% | 2/199 |
| Flat occiput | 0.5% | 1/199 |
| Abnormality of the scapula | 0.5% | 1/199 |
| Limited elbow extension | 0.5% | 1/199 |
| Short neck | 1.0% | 2/199 |
| Single transverse palmar crease | 2.0% | 4/199 |
| Macrocephaly | 0.5% | 1/199 |
| Metatarsus adductus | 0.5% | 1/199 |
| Abnormality of the distal phalanx of finger | 1.0% | 2/199 |
| Frontal bossing | 1.5% | 3/199 |
| Dolichocephaly | 1.0% | 2/199 |
| Joint laxity | 2.0% | 4/199 |
| Long toe | 0.5% | 1/199 |
| Abnormality of the calvaria | 0.5% | 1/199 |
| Hallux valgus | 1.0% | 2/199 |
| Abnormality of the occipital bone | 0.5% | 1/199 |
| Rhizomelic leg shortening | 0.5% | 1/199 |
| Rhizomelic arm shortening | 0.5% | 1/199 |
| Delayed eruption of primary teeth | 1.0% | 2/199 |
| Central hypotonia | 1.0% | 2/199 |
| Abnormal cervical curvature | 0.5% | 1/199 |
| Broad thumb | 1.5% | 3/199 |
| Kyphosis | 0.5% | 1/199 |
| Widely spaced teeth | 1.0% | 2/199 |
| Delayed eruption of permanent teeth | 1.5% | 3/199 |
| Hypodontia | 0.5% | 1/199 |
| Oligodontia | 0.5% | 1/199 |
| Gingival overgrowth | 0.5% | 1/199 |
| Carious teeth | 0.5% | 1/199 |
| Abnormality of the hip bone | 0.5% | 1/199 |
| Toe syndactyly | 0.5% | 1/199 |
| Thoracic scoliosis | 0.5% | 1/199 |
| Coronal craniosynostosis | 0.5% | 1/199 |
| Lambdoidal craniosynostosis | 0.5% | 1/199 |
| Bilateral elbow dislocations | 0.5% | 1/199 |
| Inguinal hernia | 0.5% | 1/199 |
| Wide intermamillary distance | 0.5% | 1/199 |
| Micrognathia | 0.5% | 1/199 |
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger | 0.5% | 1/199 |
| Short middle phalanx of the 5th finger | 1.0% | 2/199 |
| Mild short stature | 0.5% | 1/199 |
| Broad distal hallux | 0.5% | 1/199 |
| Dysharmonic delayed bone age | 0.5% | 1/199 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 95.6% | 197/206 |
| Low posterior hairline | 10.7% | 22/206 |
| Sparse scalp hair | 39.8% | 82/206 |
| Fine hair | 1.9% | 4/206 |
| Hypertrichosis | 60.7% | 125/206 |
| Prominent fingertip pads | 13.1% | 27/206 |
| Hemangioma | 1.0% | 2/206 |
| Low anterior hairline | 29.1% | 60/206 |
| Wide intermamillary distance | 4.9% | 10/206 |
| Generalized hypertrichosis | 5.8% | 12/206 |
| Small nail | 7.3% | 15/206 |
| Abnormal position of hair whorl | 0.5% | 1/206 |
| Eczema | 10.7% | 22/206 |
| Thick hair | 17.5% | 36/206 |
| Hypoplastic fifth fingernail | 23.8% | 49/206 |
| Hypoplastic toenails | 5.8% | 12/206 |
| Hypoplastic fifth toenail | 6.8% | 14/206 |
| Atopic dermatitis | 4.9% | 10/206 |
| Abnormality of the distal phalanx of the 5th finger | 0.5% | 1/206 |
| Short distal phalanx of finger | 0.5% | 1/206 |
| Hypoplastic fingernail | 4.4% | 9/206 |
| Urticaria | 0.5% | 1/206 |
| Bilateral single transverse palmar creases | 0.5% | 1/206 |
| Deep palmar crease | 0.5% | 1/206 |
| Striae distensae | 0.5% | 1/206 |
| Hyperextensible skin | 0.5% | 1/206 |
| Cutis marmorata | 1.5% | 3/206 |
| Sparse hair | 1.0% | 2/206 |
| Excessive wrinkled skin | 1.9% | 4/206 |
| Thin fingernail | 1.0% | 2/206 |
| Thin toenail | 0.5% | 1/206 |
| Thin nail | 1.0% | 2/206 |
| Numerous nevi | 1.0% | 2/206 |
| Cafe-au-lait spot | 1.0% | 2/206 |
| Single transverse palmar crease | 2.4% | 5/206 |
| Nevus | 1.5% | 3/206 |
| Hirsutism | 0.5% | 1/206 |
| Abnormality of the skin | 0.5% | 1/206 |
| Aplasia/Hypoplasia of the nails | 1.9% | 4/206 |
| Hyperpigmentation of the skin | 1.0% | 2/206 |
| Depigmentation/hyperpigmentation of skin | 0.5% | 1/206 |
| Thick eyebrow | 0.5% | 1/206 |
| Alopecia | 0.5% | 1/206 |
| Thoracic hypertrichosis | 1.0% | 2/206 |
| Abnormality of the scalp hair | 1.5% | 3/206 |
| Frontal hirsutism | 0.5% | 1/206 |
| Webbed neck | 0.5% | 1/206 |
| Thickened skin | 1.0% | 2/206 |
| Abnormally lax or hyperextensible skin | 1.0% | 2/206 |
| Neoplasm of the skin | 0.5% | 1/206 |
| Hyperkeratosis | 1.5% | 3/206 |
| Irregular hyperpigmentation | 0.5% | 1/206 |
| Spotty hyperpigmentation | 0.5% | 1/206 |
| Sacral dimple | 1.0% | 2/206 |
| Facial hirsutism | 0.5% | 1/206 |
| Melanocytic nevus | 1.0% | 2/206 |
| Localized hirsutism | 0.5% | 1/206 |
| Pallor | 0.5% | 1/206 |
| Skin tags | 0.5% | 1/206 |
| Hypopigmentation of the skin | 1.0% | 2/206 |
| Clinodactyly of the 5th finger | 0.5% | 1/206 |
| Localized skin lesion | 0.5% | 1/206 |
| Premature skin wrinkling | 0.5% | 1/206 |
| Absent fifth toenail | 0.5% | 1/206 |
| Absent fifth fingernail | 0.5% | 1/206 |
| Multiple cafe-au-lait spots | 0.5% | 1/206 |
| Curly hair | 0.5% | 1/206 |
| Increased body weight | 0.5% | 1/206 |
| Jaundice | 0.5% | 1/206 |
| Acanthosis nigricans | 0.5% | 1/206 |
| Red hair | 0.5% | 1/206 |
| Congenital, generalized hypertrichosis | 0.5% | 1/206 |
| Elbow hypertrichosis | 0.5% | 1/206 |
| Facial hypertrichosis | 0.5% | 1/206 |
| Polyhydramnios | 0.5% | 1/206 |
| Abnormality of hair growth rate | 0.5% | 1/206 |
| Slow-growing scalp hair | 0.5% | 1/206 |
| Slow-growing nails | 0.5% | 1/206 |
| Clinodactyly | 0.5% | 1/206 |
| Short 5th finger | 0.5% | 1/206 |
| Sacral hypertrichosis | 0.5% | 1/206 |
| Congenital giant melanocytic nevus | 0.5% | 1/206 |
| Vitiligo | 0.5% | 1/206 |
| Abnormality of the hair | 0.5% | 1/206 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 20.8% | 31/149 |
| Type II diabetes mellitus | 1.3% | 2/149 |
| Growth hormone deficiency | 6.0% | 9/149 |
| Hypothyroidism | 8.7% | 13/149 |
| Congenital hypothyroidism | 0.7% | 1/149 |
| Diabetes mellitus | 1.3% | 2/149 |
| Puberty and gonadal disorders | 0.7% | 1/149 |
| Gynecomastia | 0.7% | 1/149 |
| Type I diabetes mellitus | 0.7% | 1/149 |
| Compensated hypothyroidism | 1.3% | 2/149 |
| Increased serum free triiodothyronine (fT3) | 0.7% | 1/149 |
| Abnormality of thyroid physiology | 0.7% | 1/149 |
| Central hypothyroidism | 0.7% | 1/149 |
| Decreased circulating cortisol level | 0.7% | 1/149 |
| Increased circulating androgen level | 0.7% | 1/149 |
| Abnormality of the metabolic system | 7.3% | 11/151 |
| Diabetes mellitus | 0.7% | 1/151 |
| Hypercalciuria | 0.7% | 1/151 |
| Hyperglycemia | 0.7% | 1/151 |
| Hypomagnesemia | 0.7% | 1/151 |
| Hypocalcemia | 0.7% | 1/151 |
| Neonatal hypoglycemia | 0.7% | 1/151 |
| Type I diabetes mellitus | 0.7% | 1/151 |
| Hypercholesterolemia | 1.3% | 2/151 |
| Anemia | 0.7% | 1/151 |
| Vitamin B12 deficiency | 0.7% | 1/151 |
| Hyperinsulinemia | 0.7% | 1/151 |
| Abnormality of metabolism/homeostasis | 0.7% | 1/151 |
| Hypercalcemia | 0.7% | 1/151 |
| Abnormality of the immune system | 37.5% | 66/176 |
| Recurrent otitis media | 8.5% | 15/176 |
| Recurrent upper respiratory tract infections | 8.5% | 15/176 |
| Recurrent infections | 13.6% | 24/176 |
| Recurrent urinary tract infections | 1.7% | 3/176 |
| Recurrent lower respiratory tract infections | 1.7% | 3/176 |
| Conjunctivitis | 0.6% | 1/176 |
| Recurrent upper and lower respiratory tract infections | 0.6% | 1/176 |
| Bronchiolitis | 0.6% | 1/176 |
| Allergy | 1.1% | 2/176 |
| Decreased antibody level in blood | 0.6% | 1/176 |
| Eosinophilia | 0.6% | 1/176 |
| Recurrent respiratory infections | 1.7% | 3/176 |
| Otitis media | 0.6% | 1/176 |
| Recurrent bronchitis | 0.6% | 1/176 |
| Eczema | 1.7% | 3/176 |
| Respiratory infections in early life | 1.7% | 3/176 |
| Small vessel vasculitis | 0.6% | 1/176 |
| Recurrent bronchopulmonary infections | 0.6% | 1/176 |
| Lymphopenia | 0.6% | 1/176 |
| Panhypogammaglobulinemia | 0.6% | 1/176 |
| Asthma | 0.6% | 1/176 |
| Recurrent infections of the middle ear | 0.6% | 1/176 |
| Neoplasia | ||
| Neoplasia | 0.5% | 1/206 |
| Sertoli cell neoplasm | 0.5% | 1/206 |
| Leydig cell neoplasia | 0.5% | 1/206 |
| Brain neoplasm | 0.5% | 1/206 |