ARID1B

Graph and Chart

Patient Overview : 292

General

Frequency of all clinical findings

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