ARID1B

Graph and Chart

Patient Overview : 272

General

Frequency of all clinical findings

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