ARID1B

Graph and Chart

Patient Overview : 288

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 53.1% 153/288
Female 46.9% 135/288
Indifferent 0% 0/288
Unknown 0% 0/288
General    
Birth Length abnormalities 7.2% 15/207
< P3 : Birth length less than 3rd percentile 5.8% 12/207
> P98 : Birth length greater than 97th percentile 1.4% 3/207
Birth Weight abnormalities 8.5% 24/281
< P3 : Small for gestational age 7.8% 22/281
> P98 : Large for gestational age 0.7% 2/281
Birth Head circumference abnormalities 7.2% 16/221
> P98 : Macrocephaly at birth 1.4% 3/221
< P3 : Congenital microcephaly 5.9% 13/221
Current Height abnormalities 24.4% 67/275
< P3 : Short stature 24.0% 66/275
> P98 : Tall stature 0.4% 1/275
Current Weight abnormalities 16.3% 40/246
> P98 : Increased body weight 8.1% 20/246
< P3 : Decreased body weight 8.1% 20/246
Current Head circumference abnormalities 7.5% 20/266
> P98 : Macrocephaly 2.3% 6/266
< P3 : Microcephaly 5.3% 14/266
Neurology    
Neurological abnormalities 85.3% 220/258
Muscular hypotonia 30.2% 78/258
Generalized hypotonia 18.2% 47/258
Seizures 15.5% 40/258
Neonatal hypotonia 8.9% 23/258
Generalized tonic-clonic seizures 7.8% 20/258
Impaired pain sensation 7.0% 18/258
Febrile seizures 4.7% 12/258
Absence seizures 4.3% 11/258
Developmental regression 3.9% 10/258
Central hypotonia 3.5% 9/258
EEG abnormality 3.5% 9/258
Astereognosia 3.1% 8/258
Impaired visuospatial constructive cognition 3.1% 8/258
Visual agnosia 3.1% 8/258
Focal seizures with impairment of consciousness or awareness 2.7% 7/258
Abnormality of pain sensation 2.3% 6/258
Gait ataxia 2.3% 6/258
Generalized tonic seizures 1.9% 5/258
Hypertonia 1.9% 5/258
Motor delay 1.6% 4/258
Atonic seizures 1.2% 3/258
Hyperreflexia 1.2% 3/258
Abnormality of nervous system physiology 0.8% 2/258
Broad-based gait 0.8% 2/258
Cerebral palsy 0.8% 2/258
Colpocephaly 0.8% 2/258
Delayed myelination 0.8% 2/258
Focal seizures 0.8% 2/258
Focal seizures without impairment of consciousness or awareness 0.8% 2/258
Gait disturbance 0.8% 2/258
Generalized seizures 0.8% 2/258
Generalized myoclonic seizures 0.8% 2/258
Headache 0.8% 2/258
Lower limb hypertonia 0.8% 2/258
Lower limb hyperreflexia 0.8% 2/258
Muscular hypotonia of the trunk 0.8% 2/258
Poor fine motor coordination 0.8% 2/258
Unsteady gait 0.8% 2/258
Upper limb hypertonia 0.8% 2/258
Abnormality of the corpus callosum 0.4% 1/258
Abnormality of the subarachnoid space 0.4% 1/258
Agenesis of corpus callosum 0.4% 1/258
Anomia 0.4% 1/258
Ataxia 0.4% 1/258
Chorea 0.4% 1/258
Dysarthria 0.4% 1/258
Dysdiadochokinesis 0.4% 1/258
Dyskinesia 0.4% 1/258
Dysmetria 0.4% 1/258
Dysplastic corpus callosum 0.4% 1/258
Dystonia 0.4% 1/258
Exercise intolerance 0.4% 1/258
Gait imbalance 0.4% 1/258
Gait apraxia 0.4% 1/258
Global developmental delay 0.4% 1/258
Hand tremor 0.4% 1/258
Infantile muscular hypotonia 0.4% 1/258
Infantile axial hypotonia 0.4% 1/258
Intellectual disability, borderline 0.4% 1/258
Involuntary movements 0.4% 1/258
Muscle weakness 0.4% 1/258
Myoclonus 0.4% 1/258
Oromandibular dystonia 0.4% 1/258
Partial agenesis of the corpus callosum 0.4% 1/258
Poor gross motor coordination 0.4% 1/258
Posterior fossa cyst 0.4% 1/258
Postural instability 0.4% 1/258
Sensory impairment 0.4% 1/258
Stroke 0.4% 1/258
Torticollis 0.4% 1/258
Widened subarachnoid space 0.4% 1/258
Behavioral problems 71.2% 166/233
Autistic behavior 31.3% 73/233
Hyperactivity 19.7% 46/233
Attention deficit hyperactivity disorder 13.7% 32/233
Autism 12.9% 30/233
Short attention span 12.4% 29/233
Impaired social interactions 8.6% 20/233
Aggressive behavior 7.3% 17/233
Abnormal fear/anxiety-related behavior 6.4% 15/233
Stereotypic behavior 6.4% 15/233
Obsessive-compulsive behavior 5.6% 13/233
Anxiety 5.2% 12/233
Impulsivity 5.2% 12/233
Abnormal social behavior 4.7% 11/233
Hyperkinesis 4.3% 10/233
Behavioral abnormality 3.4% 8/233
Impaired social reciprocity 2.6% 6/233
Obsessive-compulsive trait 2.6% 6/233
Abnormal emotion/affect behavior 1.7% 4/233
Abnormal aggressive, impulsive or violent behavior 1.7% 4/233
Drooling 1.7% 4/233
Self-injurious behavior 1.7% 4/233
Inflexible adherence to routines or rituals 1.3% 3/233
Sleep disturbance 1.3% 3/233
Absent speech 0.9% 2/233
Emotional lability 0.9% 2/233
Hyperacusis 0.9% 2/233
Oral aversion 0.9% 2/233
Poor eye contact 0.9% 2/233
Repetitive compulsive behavior 0.9% 2/233
Self-mutilation 0.9% 2/233
Abnormality of nervous system physiology 0.4% 1/233
Agoraphobia 0.4% 1/233
Bruxism 0.4% 1/233
Clumsiness 0.4% 1/233
Developmental regression 0.4% 1/233
Facial tics 0.4% 1/233
Hair-pulling 0.4% 1/233
Happy demeanor 0.4% 1/233
Head-banging 0.4% 1/233
Impaired pain sensation 0.4% 1/233
Impaired ability to form peer relationships 0.4% 1/233
Lack of insight 0.4% 1/233
Nail-biting 0.4% 1/233
Overfriendliness 0.4% 1/233
Pain insensitivity 0.4% 1/233
Personality disorder 0.4% 1/233
Phonophobia 0.4% 1/233
Polyphagia 0.4% 1/233
Restlessness 0.4% 1/233
Restrictive behavior 0.4% 1/233
Rigidity 0.4% 1/233
Shyness 0.4% 1/233
Violent behavior 0.4% 1/233
Brain abnormality 71.5% 153/214
Agenesis of corpus callosum 20.1% 43/214
Partial agenesis of the corpus callosum 9.8% 21/214
Hypoplasia of the corpus callosum 8.4% 18/214
Delayed myelination 7.5% 16/214
Colpocephaly 6.1% 13/214
Aplasia/Hypoplasia of the corpus callosum 4.7% 10/214
Enlarged cisterna magna 4.7% 10/214
Abnormality of the corpus callosum 3.7% 8/214
Thick corpus callosum 3.7% 8/214
Ventriculomegaly 3.7% 8/214
Short corpus callosum 3.3% 7/214
Arachnoid cyst 2.8% 6/214
Cerebellar cyst 2.8% 6/214
Dysplastic corpus callosum 2.8% 6/214
Retrocerebellar cyst 2.8% 6/214
Intracranial cystic lesion 2.3% 5/214
Arnold-Chiari type I malformation 1.9% 4/214
Cerebral atrophy 1.4% 3/214
Cerebellar hypoplasia 1.4% 3/214
Cortical dysplasia 1.4% 3/214
Heterotopia 1.4% 3/214
Abnormal basal ganglia MRI signal intensity 0.9% 2/214
Abnormality of lateral ventricle 0.9% 2/214
Abnormality of forebrain morphology 0.9% 2/214
Abnormality of the cerebral white matter 0.9% 2/214
Absent septum pellucidum 0.9% 2/214
Aplasia/Hypoplasia of the cerebrum 0.9% 2/214
Attention deficit hyperactivity disorder 0.9% 2/214
Cerebral hypoplasia 0.9% 2/214
Choroid plexus cyst 0.9% 2/214
Hydrocephalus 0.9% 2/214
Lambdoidal craniosynostosis 0.9% 2/214
Perivascular spaces 0.9% 2/214
Sagittal craniosynostosis 0.9% 2/214
Abnormality of the periventricular white matter 0.5% 1/214
Abnormality of the pons 0.5% 1/214
Abnormality of corpus cavernosum 0.5% 1/214
Abnormality of the cerebellum 0.5% 1/214
Abnormality of the vestibulocochlear nerve 0.5% 1/214
Abnormality of the cerebral ventricles 0.5% 1/214
Abnormality of the choroid 0.5% 1/214
Abnormality of the optic nerve 0.5% 1/214
Abnormality of cerebral veins 0.5% 1/214
Abnormality of the cerebral cortex 0.5% 1/214
Abnormality of midbrain morphology 0.5% 1/214
Abnormal thalamic MRI signal intensity 0.5% 1/214
Abnormal cortical gyration 0.5% 1/214
Abnormality of the subarachnoid space 0.5% 1/214
Abnormality of neuronal migration 0.5% 1/214
Abnormal brainstem MRI signal intensity 0.5% 1/214
Abnormal length of corpus callosum 0.5% 1/214
Aplasia/Hypoplasia involving the central nervous system 0.5% 1/214
Aplasia of the falx cerebri 0.5% 1/214
Asymmetric ventricles 0.5% 1/214
Bilateral intracranial calcifications 0.5% 1/214
Brain atrophy 0.5% 1/214
Cavum septum pellucidum 0.5% 1/214
Cerebellar dysplasia 0.5% 1/214
Cerebellar agenesis 0.5% 1/214
Dandy-Walker malformation 0.5% 1/214
Delayed CNS myelination 0.5% 1/214
Dilation of lateral ventricles 0.5% 1/214
Encephalopathy 0.5% 1/214
Enlarged fetal cisterna magna 0.5% 1/214
Hypodysplasia of the corpus callosum 0.5% 1/214
Hypoplasia of the brainstem 0.5% 1/214
Hypoplastic olfactory lobes 0.5% 1/214
Hypoplasia of the pons 0.5% 1/214
Hypoplastic anterior commissure 0.5% 1/214
Inferior vermis hypoplasia 0.5% 1/214
Limbic malformations 0.5% 1/214
Microcephaly 0.5% 1/214
Midline central nervous system lipomas 0.5% 1/214
Multiple suture craniosynostosis 0.5% 1/214
Neonatal hypotonia 0.5% 1/214
Neoplasm of the central nervous system 0.5% 1/214
Pachygyria 0.5% 1/214
Polymicrogyria 0.5% 1/214
Prominent supraorbital ridges 0.5% 1/214
Relative macrocephaly 0.5% 1/214
Seizures 0.5% 1/214
Subarachnoid hemorrhage 0.5% 1/214
Syringomyelia 0.5% 1/214
Talipes calcaneovarus 0.5% 1/214
Facial abnormalities    
Abnormality of the ear 61.4% 154/251
Low-set ears 15.1% 38/251
Abnormality of the ear 9.6% 24/251
Abnormality of the pinna 9.2% 23/251
Low-set, posteriorly rotated ears 8.0% 20/251
Posteriorly rotated ears 6.8% 17/251
Protruding ear 5.2% 13/251
Macrotia 4.0% 10/251
Abnormality of the outer ear 3.6% 9/251
Uplifted earlobe 3.6% 9/251
External ear malformation 2.4% 6/251
Overfolded helix 2.4% 6/251
Preauricular pit 2.0% 5/251
Cupped ear 1.6% 4/251
Forward facing earlobe 1.2% 3/251
Small earlobe 1.2% 3/251
Thickened helices 1.2% 3/251
Underdeveloped superior crus of antihelix 1.2% 3/251
Abnormal location of ears 0.8% 2/251
Abnormality of earlobe 0.8% 2/251
Cholesteatoma 0.8% 2/251
Abnormality of periauricular region 0.4% 1/251
Absent earlobe 0.4% 1/251
Asymmetry of the ears 0.4% 1/251
Cleft helix 0.4% 1/251
Darwin tubercle of helix 0.4% 1/251
Large earlobe 0.4% 1/251
Long ear 0.4% 1/251
Long eyelashes 0.4% 1/251
Microtia 0.4% 1/251
Mild hearing impairment 0.4% 1/251
Periauricular skin pits 0.4% 1/251
Prominent crus of helix 0.4% 1/251
Prominent ear helix 0.4% 1/251
Recurrent otitis media 0.4% 1/251
Recurrent infections of the middle ear 0.4% 1/251
Satyr ear 0.4% 1/251
Squared superior portion of helix 0.4% 1/251
Thick eyebrow 0.4% 1/251
Underdeveloped nasal alae 0.4% 1/251
Abnormality of the eye 86.8% 224/258
Thick eyebrow 57.4% 148/258
Long eyelashes 46.5% 120/258
Downslanted palpebral fissures 14.7% 38/258
Ptosis 8.1% 21/258
Synophrys 7.8% 20/258
Periorbital wrinkles 6.6% 17/258
Hypertelorism 6.2% 16/258
Upslanted palpebral fissure 6.2% 16/258
Epicanthus 5.4% 14/258
Long palpebral fissure 4.3% 11/258
Abnormality of the lacrimal duct 3.9% 10/258
Bilateral ptosis 3.1% 8/258
Highly arched eyebrow 2.7% 7/258
Prominent eyelashes 2.7% 7/258
Small palpebral fissure 2.7% 7/258
Strabismus 2.7% 7/258
Unilateral ptosis 2.3% 6/258
Facial wrinkling 1.9% 5/258
Short palpebral fissure 1.9% 5/258
Proptosis 1.2% 3/258
Sparse eyebrow 1.2% 3/258
Abnormality of the nasolacrimal system 0.8% 2/258
Abnormality of the periorbital region 0.8% 2/258
Decreased lacrimation 0.8% 2/258
Esotropia 0.8% 2/258
Horizontal nystagmus 0.8% 2/258
Nasolacrimal duct obstruction 0.8% 2/258
Abnormality of the eyelashes 0.4% 1/258
Blue sclerae 0.4% 1/258
Broad forehead 0.4% 1/258
Congenital ptosis 0.4% 1/258
Deeply set eye 0.4% 1/258
Excessive wrinkled skin 0.4% 1/258
Exotropia 0.4% 1/258
High forehead 0.4% 1/258
Lacrimal duct stenosis 0.4% 1/258
Lisch nodules 0.4% 1/258
Long eyebrows 0.4% 1/258
Lower eyelid edema 0.4% 1/258
Medial flaring of the eyebrow 0.4% 1/258
Muscular hypotonia of the trunk 0.4% 1/258
Periorbital fullness 0.4% 1/258
Prominent epicanthal folds 0.4% 1/258
Prominent glabella 0.4% 1/258
Redundant skin 0.4% 1/258
Short eyelashes 0.4% 1/258
Telecanthus 0.4% 1/258
Unilateral narrow palpebral fissure 0.4% 1/258
Abnormality of the nose 78.8% 201/255
Broad nasal tip 39.6% 101/255
Thick nasal alae 26.3% 67/255
Wide nasal bridge 22.0% 56/255
Anteverted nares 17.6% 45/255
Wide nasal base 17.3% 44/255
Short nose 12.9% 33/255
Depressed nasal bridge 11.8% 30/255
Long nose 7.5% 19/255
Wide nose 5.5% 14/255
Bulbous nose 4.7% 12/255
Prominent nasal tip 2.7% 7/255
Prominent nasal bridge 2.7% 7/255
Abnormality of the columella 1.6% 4/255
Long philtrum 1.6% 4/255
Narrow nasal tip 1.2% 3/255
Short philtrum 1.2% 3/255
Low hanging columella 0.8% 2/255
Narrow nasal bridge 0.8% 2/255
Thick lower lip vermilion 0.8% 2/255
Underdeveloped nasal alae 0.8% 2/255
Abnormality of the nasal alae 0.4% 1/255
Abnormal nasal morphology 0.4% 1/255
Abnormality of the nasal tip 0.4% 1/255
Abnormality of the nasal bridge 0.4% 1/255
Broad philtrum 0.4% 1/255
Choanal atresia 0.4% 1/255
Flat nasal alae 0.4% 1/255
Hypodontia 0.4% 1/255
Narrow nasal base 0.4% 1/255
Nasal polyposis 0.4% 1/255
Nasal obstruction 0.4% 1/255
Papule 0.4% 1/255
Prominent nose 0.4% 1/255
Retrognathia 0.4% 1/255
Thick upper lip vermilion 0.4% 1/255
Thick vermilion border 0.4% 1/255
Thin lower lip vermilion 0.4% 1/255
Thin upper lip vermilion 0.4% 1/255
Abnormality of the mouth 92.3% 239/259
Wide mouth 51.0% 132/259
Thick lower lip vermilion 47.9% 124/259
Thin upper lip vermilion 29.3% 76/259
Long philtrum 22.4% 58/259
Thick upper lip vermilion 20.5% 53/259
Everted lower lip vermilion 19.3% 50/259
Broad philtrum 14.7% 38/259
High palate 13.1% 34/259
Short philtrum 13.1% 34/259
Widely spaced teeth 12.4% 32/259
Delayed eruption of primary teeth 11.6% 30/259
Delayed eruption of permanent teeth 7.3% 19/259
Cleft palate 4.6% 12/259
Macroglossia 4.6% 12/259
Gingival overgrowth 4.2% 11/259
Micrognathia 3.9% 10/259
Hypodontia 3.1% 8/259
Open mouth 2.3% 6/259
Bifid uvula 1.9% 5/259
Coarse facial features 1.9% 5/259
Retrognathia 1.9% 5/259
Narrow mouth 1.5% 4/259
Abnormality of the philtrum 1.2% 3/259
Irregular dentition 1.2% 3/259
Microdontia 1.2% 3/259
Thin lower lip vermilion 1.2% 3/259
Abnormality of the palate 0.8% 2/259
Abnormality of the teeth 0.8% 2/259
Abnormality of dental enamel 0.8% 2/259
Ankyloglossia 0.8% 2/259
Carious teeth 0.8% 2/259
Dental malocclusion 0.8% 2/259
High, narrow palate 0.8% 2/259
Mandibular prognathia 0.8% 2/259
Misalignment of teeth 0.8% 2/259
Protruding tongue 0.8% 2/259
Abnormality of upper lip vermillion 0.4% 1/259
Abnormality of mouth size 0.4% 1/259
Abnormality of the gingiva 0.4% 1/259
Abnormality of the tongue 0.4% 1/259
Absent speech 0.4% 1/259
Advanced eruption of teeth 0.4% 1/259
Cleft soft palate 0.4% 1/259
Conical tooth 0.4% 1/259
Delayed eruption of teeth 0.4% 1/259
Downturned corners of mouth 0.4% 1/259
Everted upper lip vermilion 0.4% 1/259
Excessive salivation 0.4% 1/259
Growth delay 0.4% 1/259
Hypoplasia of teeth 0.4% 1/259
Hypoplasia of the primary teeth 0.4% 1/259
Overbite 0.4% 1/259
Pes planus 0.4% 1/259
Prominent palatine ridges 0.4% 1/259
Short chin 0.4% 1/259
Small, conical teeth 0.4% 1/259
Smooth philtrum 0.4% 1/259
Submucous cleft lip 0.4% 1/259
Submucous cleft soft palate 0.4% 1/259
Thick vermilion border 0.4% 1/259
Widely-spaced incisors 0.4% 1/259
Widely spaced primary teeth 0.4% 1/259
Visual and hearing impairments    
Abnormal hearing 29.1% 72/247
Hearing impairment 12.1% 30/247
Glue ear 7.3% 18/247
Conductive hearing impairment 4.5% 11/247
Sensorineural hearing impairment 1.6% 4/247
Bilateral conductive hearing impairment 1.2% 3/247
Bilateral sensorineural hearing impairment 1.2% 3/247
Moderate sensorineural hearing impairment 1.2% 3/247
Severe sensorineural hearing impairment 1.2% 3/247
Mild hearing impairment 0.8% 2/247
Mild conductive hearing impairment 0.8% 2/247
Unilateral conductive hearing impairment 0.8% 2/247
Abnormality of the tympanic membrane 0.4% 1/247
Abnormality of the middle ear 0.4% 1/247
Hearing abnormality 0.4% 1/247
Hyperacusis 0.4% 1/247
Mixed hearing impairment 0.4% 1/247
Moderate conductive hearing impairment 0.4% 1/247
Otitis media 0.4% 1/247
Progressive sensorineural hearing impairment 0.4% 1/247
Recurrent otitis media 0.4% 1/247
Severe hearing impairment 0.4% 1/247
Unilateral 0.4% 1/247
Abnormal vision 54.7% 127/232
Myopia 21.1% 49/232
Strabismus 14.2% 33/232
Hypermetropia 8.2% 19/232
Astigmatism 7.8% 18/232
Visual impairment 6.5% 15/232
Severe Myopia 6.0% 14/232
Nystagmus 4.3% 10/232
Abnormality of refraction 3.0% 7/232
Exotropia 2.6% 6/232
Unilateral strabismus 1.3% 3/232
Abnormality of vision 0.9% 2/232
Amblyopia 0.9% 2/232
Coloboma 0.9% 2/232
Glaucoma 0.9% 2/232
Optic nerve hypoplasia 0.9% 2/232
Abnormality of the optic disc 0.4% 1/232
Blurred vision 0.4% 1/232
Cataract 0.4% 1/232
Congenital cataract 0.4% 1/232
Corneal ulceration 0.4% 1/232
Cortical visual impairment 0.4% 1/232
Esotropia 0.4% 1/232
Increased intraocular pressure 0.4% 1/232
Keratoconus 0.4% 1/232
Lattice corneal dystrophy 0.4% 1/232
Optic nerve coloboma 0.4% 1/232
Peripapillary chorioretinal atrophy 0.4% 1/232
Severe visual impairment 0.4% 1/232
Heart    
Abnormality of the heart 25.3% 58/229
Atria septal defect 8.3% 19/229
Ventricular septal defect 4.4% 10/229
Patent foramen ovale 3.5% 8/229
Abnormality of the aortic valve 1.3% 3/229
Heart murmur 1.3% 3/229
Mitral regurgitation 1.3% 3/229
Patent ductus arteriosus 1.3% 3/229
Abnormal heart morphology 0.9% 2/229
Abnormality of the aortic arch 0.9% 2/229
Abnormality of the atrial septum 0.9% 2/229
Bicuspid aortic valve 0.9% 2/229
Coarctation of aorta 0.9% 2/229
Secundum atrial septal defect 0.9% 2/229
Abnormality of the pulmonary artery 0.4% 1/229
Abnormality of the left ventricle 0.4% 1/229
Abnormality of the vena cava 0.4% 1/229
Abnormality of the tricuspid valve 0.4% 1/229
Abnormality of the cardiac septa 0.4% 1/229
Abnormality of the vasculature 0.4% 1/229
Arrhythmia 0.4% 1/229
Atrioventricular canal defect 0.4% 1/229
Atrioventricular block 0.4% 1/229
Bradycardia 0.4% 1/229
Cardiomyopathy 0.4% 1/229
Congestive heart failure 0.4% 1/229
Cyanosis 0.4% 1/229
Dilated cardiomyopathy 0.4% 1/229
Hypoplastic left heart 0.4% 1/229
Hypoxemia 0.4% 1/229
Impaired left ventricular function 0.4% 1/229
Left-to-right shunt 0.4% 1/229
Non-restrictive ventricular septal defect 0.4% 1/229
Primum atrial septal defect 0.4% 1/229
Pulmonic stenosis 0.4% 1/229
Right ventricular dilatation 0.4% 1/229
Supraventricular arrhythmia 0.4% 1/229
Ventricular extrasystoles 0.4% 1/229
Pulmonary    
Abnormality of the lungs 26.8% 15/56
Asthma 5.4% 3/56
Neonatal respiratory distress 5.4% 3/56
Recurrent upper respiratory tract infections 5.4% 3/56
Laryngomalacia 3.6% 2/56
Recurrent respiratory infections 3.6% 2/56
Central apnea 1.8% 1/56
Chronic obstructive pulmonary disease 1.8% 1/56
Laryngotracheomalacia 1.8% 1/56
Neoplasm of the lung 1.8% 1/56
Recurrent bronchitis 1.8% 1/56
Recurrent pneumonia 1.8% 1/56
Recurrent lower respiratory tract infections 1.8% 1/56
Recurrent infections due to aspiration 1.8% 1/56
Gastrointestinal    
Gastrointestinal abnormalities 60.6% 140/231
Constipation 20.3% 47/231
Feeding difficulties in infancy 17.7% 41/231
Gastroesophageal reflux 12.1% 28/231
Feeding difficulties 10.8% 25/231
Poor suck 3.9% 9/231
Umbilical hernia 3.9% 9/231
Failure to thrive 3.5% 8/231
Nasogastric tube feeding in infancy 3.5% 8/231
Dysphagia 3.0% 7/231
Diarrhea 2.6% 6/231
Gastrostomy tube feeding in infancy 2.6% 6/231
Inguinal hernia 2.6% 6/231
Failure to thrive in infancy 1.7% 4/231
Pyloric stenosis 1.3% 3/231
Vomiting 1.3% 3/231
Abnormality of the intestine 0.9% 2/231
Anal fistula 0.9% 2/231
Episodic vomiting 0.9% 2/231
Gastroparesis 0.9% 2/231
Hernia of the abdominal wall 0.9% 2/231
Intestinal malrotation 0.9% 2/231
Lactose intolerance 0.9% 2/231
Laryngomalacia 0.9% 2/231
Abnormality of the gastrointestinal tract 0.4% 1/231
Abnormal vascular physiology 0.4% 1/231
Aganglionic megacolon 0.4% 1/231
Anteriorly placed anus 0.4% 1/231
Aspiration 0.4% 1/231
Celiac disease 0.4% 1/231
Cholelithiasis 0.4% 1/231
Chronic constipation 0.4% 1/231
Cow milk allergy 0.4% 1/231
Dehydration 0.4% 1/231
Esophageal stenosis 0.4% 1/231
Esophagitis 0.4% 1/231
Gastritis 0.4% 1/231
Gastrointestinal dysmotility 0.4% 1/231
Hepatosplenomegaly 0.4% 1/231
Hiatus hernia 0.4% 1/231
Hyperinsulinemia 0.4% 1/231
Intestinal lymphangiectasia 0.4% 1/231
Intestinal obstruction 0.4% 1/231
Malnutrition 0.4% 1/231
Pancreatitis 0.4% 1/231
Ulcerative colitis 0.4% 1/231
Urogenital    
Abnormality of the urogenital system 37.7% 83/220
Bilateral cryptorchidism 13.2% 29/220
Cryptorchidism 6.8% 15/220
Unilateral cryptorchidism 6.8% 15/220
Nephrolithiasis 2.7% 6/220
Hydronephrosis 2.3% 5/220
Inguinal hernia 1.8% 4/220
Retractile testis 1.8% 4/220
Vesicoureteral reflux 1.4% 3/220
Abnormality of the urinary system 0.9% 2/220
Abnormality of the penis 0.9% 2/220
Chronic kidney disease 0.9% 2/220
Increased size of the clitoris 0.9% 2/220
Scrotal hypoplasia 0.9% 2/220
Abnormality of the urinary system physiology 0.5% 1/220
Abnormality of the testis 0.5% 1/220
Abnormality of the kidney 0.5% 1/220
Abnormality of the ureter 0.5% 1/220
Abnormal renal morphology 0.5% 1/220
Aplasia of the uterus 0.5% 1/220
Aplasia of the upper vagina 0.5% 1/220
Clitoral hypertrophy 0.5% 1/220
Decreased testicular size 0.5% 1/220
Elevated serum creatinine 0.5% 1/220
Enuresis nocturna 0.5% 1/220
Functional abnormality of the bladder 0.5% 1/220
Hydroureter 0.5% 1/220
Hydrocele testis 0.5% 1/220
Hypoplastic male external genitalia 0.5% 1/220
Nephrocalcinosis 0.5% 1/220
Nephrotic syndrome 0.5% 1/220
Pelvic kidney 0.5% 1/220
Proteinuria 0.5% 1/220
Pyelonephritis 0.5% 1/220
Renal dysplasia 0.5% 1/220
Renal duplication 0.5% 1/220
Renal cyst 0.5% 1/220
Small scrotum 0.5% 1/220
Stage 5 chronic kidney disease 0.5% 1/220
Unilateral renal atrophy 0.5% 1/220
Ureteral duplication 0.5% 1/220
Urethral valve 0.5% 1/220
Urinary retention 0.5% 1/220
Webbed penis 0.5% 1/220
Skeleton    
Skeletal abnormalities 88.3% 226/256
Scoliosis 19.9% 51/256
Abnormality of the distal phalanx of the 5th finger 15.2% 39/256
Clinodactyly 11.3% 29/256
Prominent interphalangeal joints 11.3% 29/256
Short distal phalanx of finger 10.9% 28/256
Short 5th finger 10.5% 27/256
Sandal gap 9.4% 24/256
Pes planus 8.6% 22/256
Joint laxity 8.2% 21/256
Delayed skeletal maturation 7.8% 20/256
Short phalanx of finger 7.0% 18/256
Brachydactyly syndrome 6.6% 17/256
Short stature 6.3% 16/256
Long hallux 5.5% 14/256
Abnormality of the sternum 5.1% 13/256
Abnormality of the neck 4.7% 12/256
Clinodactyly of the 5th finger 3.9% 10/256
Plagiocephaly 3.5% 9/256
Brachycephaly 3.1% 8/256
Prominent fingertip pads 3.1% 8/256
Dolichocephaly 2.7% 7/256
Microcephaly 2.7% 7/256
Frontal bossing 2.3% 6/256
Patellar dislocation 2.3% 6/256
Arthritis 2.0% 5/256
Hyperlordosis 2.0% 5/256
Pectus excavatum 2.0% 5/256
Abnormality of the thumb 1.6% 4/256
Broad thumb 1.6% 4/256
Delayed eruption of permanent teeth 1.6% 4/256
Short distal phalanx of the 5th finger 1.6% 4/256
Broad foot 1.2% 3/256
Broad hallux 1.2% 3/256
Camptodactyly of finger 1.2% 3/256
Cone-shaped epiphysis 1.2% 3/256
Delayed eruption of teeth 1.2% 3/256
Generalized hypotonia 1.2% 3/256
Growth delay 1.2% 3/256
Hallux valgus 1.2% 3/256
Joint hypermobility 1.2% 3/256
Kyphosis 1.2% 3/256
Recurrent patellar dislocation 1.2% 3/256
Short finger 1.2% 3/256
Short distal phalanx of toe 1.2% 3/256
Single transverse palmar crease 1.2% 3/256
Widely spaced teeth 1.2% 3/256
Abnormal joint morphology 0.8% 2/256
Abnormality of the distal phalanx of finger 0.8% 2/256
Accelerated skeletal maturation 0.8% 2/256
Aplasia/Hypoplasia of the distal phalanges of the hand 0.8% 2/256
Aplasia/Hypoplasia of the phalanges of the hand 0.8% 2/256
Broad distal phalanx of finger 0.8% 2/256
Broad phalanges of the hand 0.8% 2/256
Broad phalanx of the toes 0.8% 2/256
Broad hallux phalanx 0.8% 2/256
Central hypotonia 0.8% 2/256
Congenital hip dislocation 0.8% 2/256
Curved phalanges of the 5th finger 0.8% 2/256
Curved phalanges of the 2nd finger 0.8% 2/256
Delayed eruption of primary teeth 0.8% 2/256
Genu valgum 0.8% 2/256
Hypodontia 0.8% 2/256
Misalignment of teeth 0.8% 2/256
Short metatarsal 0.8% 2/256
Short middle phalanx of the 5th finger 0.8% 2/256
Short metacarpal 0.8% 2/256
Short foot 0.8% 2/256
Short neck 0.8% 2/256
Short toe 0.8% 2/256
Small hand 0.8% 2/256
Triphalangeal thumb 0.8% 2/256
Valgus foot deformity 0.8% 2/256
Wide intermamillary distance 0.8% 2/256
Abnormality of the 4th metacarpal 0.4% 1/256
Abnormality of muscle physiology 0.4% 1/256
Abnormal cervical curvature 0.4% 1/256
Abnormality of the hip bone 0.4% 1/256
Abnormality of the calvaria 0.4% 1/256
Abnormality of the 5th metacarpal 0.4% 1/256
Abnormality of the phalanges of the 5th finger 0.4% 1/256
Abnormality of the tarsal bones 0.4% 1/256
Abnormality of the teeth 0.4% 1/256
Abnormality of the scapula 0.4% 1/256
Abnormality of the vertebrae 0.4% 1/256
Abnormal metacarpal morphology 0.4% 1/256
Abnormality of the occipital bone 0.4% 1/256
Adducted thumb 0.4% 1/256
Aplasia/Hypoplasia of the phalanges of the 5th toe 0.4% 1/256
Aplasia/Hypoplasia of fingers 0.4% 1/256
Aplasia/Hypoplasia of the distal phalanges of the toes 0.4% 1/256
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 0.4% 1/256
Aplasia/Hypoplasia of the nails 0.4% 1/256
Aplasia/Hypoplasia of the 2nd finger 0.4% 1/256
Bilateral elbow dislocations 0.4% 1/256
Broad distal phalanges of all fingers 0.4% 1/256
Broad palm 0.4% 1/256
Broad distal hallux 0.4% 1/256
Camptodactyly 0.4% 1/256
Carious teeth 0.4% 1/256
Clinodactyly of the 5th toe 0.4% 1/256
Clinodactyly of the 4th finger 0.4% 1/256
Coronal craniosynostosis 0.4% 1/256
Curved phalanges of the 4th finger 0.4% 1/256
Curved hallux phalanx 0.4% 1/256
Curved thumb phalanx 0.4% 1/256
Deep plantar creases 0.4% 1/256
Dental crowding 0.4% 1/256
Difficulty walking 0.4% 1/256
Dysharmonic delayed bone age 0.4% 1/256
Elbow dislocation 0.4% 1/256
Flat occiput 0.4% 1/256
Gingival overgrowth 0.4% 1/256
Hip dislocation 0.4% 1/256
Hypertrichosis 0.4% 1/256
Inguinal hernia 0.4% 1/256
Joint dislocation 0.4% 1/256
Kyphoscoliosis 0.4% 1/256
Lambdoidal craniosynostosis 0.4% 1/256
Limited elbow extension 0.4% 1/256
Long toe 0.4% 1/256
Long fingers 0.4% 1/256
Long distal phalanx of finger 0.4% 1/256
Lower limb pain 0.4% 1/256
Macrocephaly at birth 0.4% 1/256
Macrocephaly 0.4% 1/256
Metatarsus adductus 0.4% 1/256
Micrognathia 0.4% 1/256
Microdontia 0.4% 1/256
Mild short stature 0.4% 1/256
Muscle weakness 0.4% 1/256
Oligodontia 0.4% 1/256
Overbite 0.4% 1/256
Overlapping toe 0.4% 1/256
Patellar hypoplasia 0.4% 1/256
Pes cavus 0.4% 1/256
Positional foot deformity 0.4% 1/256
Posterior plagiocephaly 0.4% 1/256
Proximal placement of thumb 0.4% 1/256
Rhizomelic leg shortening 0.4% 1/256
Rhizomelia 0.4% 1/256
Rhizomelic arm shortening 0.4% 1/256
Rocker bottom foot 0.4% 1/256
Sacral dimple 0.4% 1/256
Short 4th metacarpal 0.4% 1/256
Short hallux 0.4% 1/256
Short sternum 0.4% 1/256
Shortening of all distal phalanges of the fingers 0.4% 1/256
Shortening of all phalanges of fingers 0.4% 1/256
Short 5th toe 0.4% 1/256
Short phalanx of the 5th toe 0.4% 1/256
Short 5th metacarpal 0.4% 1/256
Shortening of all distal phalanges of the toes 0.4% 1/256
Shortening of all phalanges of the toes 0.4% 1/256
Sparse scalp hair 0.4% 1/256
Spondylolysis 0.4% 1/256
Symphalangism affecting the phalanges of the 5th toe 0.4% 1/256
Talipes valgus 0.4% 1/256
Thick hair 0.4% 1/256
Thoracic scoliosis 0.4% 1/256
Toe syndactyly 0.4% 1/256
Toe walking 0.4% 1/256
Valgus hand deformity 0.4% 1/256
2-3 toe syndactyly 0.4% 1/256
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 92.6% 239/258
Hypertrichosis 53.5% 138/258
Sparse scalp hair 35.3% 91/258
Low anterior hairline 27.5% 71/258
Hypoplastic fifth fingernail 19.0% 49/258
Thick hair 15.9% 41/258
Prominent fingertip pads 12.8% 33/258
Low posterior hairline 10.1% 26/258
Eczema 8.9% 23/258
Generalized hypertrichosis 7.8% 20/258
Small nail 6.6% 17/258
Hypoplastic fifth toenail 6.2% 16/258
Hypoplastic toenails 4.7% 12/258
Fine hair 4.3% 11/258
Hyperhidrosis 4.3% 11/258
Atopic dermatitis 3.9% 10/258
Wide intermamillary distance 3.9% 10/258
Hypoplastic fingernail 3.5% 9/258
Single transverse palmar crease 3.1% 8/258
Nevus 2.7% 7/258
Abnormality of the nail 2.3% 6/258
Slow-growing nails 1.9% 5/258
Cafe-au-lait spot 1.6% 4/258
Excessive wrinkled skin 1.6% 4/258
Hyperpigmentation of the skin 1.6% 4/258
Abnormality of the scalp hair 1.2% 3/258
Aplasia/Hypoplasia of the nails 1.2% 3/258
Coarse hair 1.2% 3/258
Cutis marmorata 1.2% 3/258
Hyperkeratosis 1.2% 3/258
Short distal phalanx of finger 1.2% 3/258
Sparse hair 1.2% 3/258
Thin nail 1.2% 3/258
Thin fingernail 1.2% 3/258
Thoracic hypertrichosis 1.2% 3/258
Abnormally lax or hyperextensible skin 0.8% 2/258
Bilateral single transverse palmar creases 0.8% 2/258
Deep palmar crease 0.8% 2/258
Facial hypertrichosis 0.8% 2/258
Few cafe-au-lait spots 0.8% 2/258
Hemangioma 0.8% 2/258
Hypopigmentation of the skin 0.8% 2/258
Jaundice 0.8% 2/258
Melanocytic nevus 0.8% 2/258
Numerous nevi 0.8% 2/258
Sacral dimple 0.8% 2/258
Short nail 0.8% 2/258
Thickened skin 0.8% 2/258
Abnormality of the palmar creases 0.4% 1/258
Abnormality of the hair 0.4% 1/258
Abnormality of the toenails 0.4% 1/258
Abnormality of hair growth rate 0.4% 1/258
Abnormality of hair growth 0.4% 1/258
Abnormal position of hair whorl 0.4% 1/258
Abnormality of the distal phalanx of the 5th finger 0.4% 1/258
Absent fifth toenail 0.4% 1/258
Absent fifth fingernail 0.4% 1/258
Acanthosis nigricans 0.4% 1/258
Alopecia 0.4% 1/258
Alopecia of scalp 0.4% 1/258
Aplastic/hypoplastic toenail 0.4% 1/258
Broad distal phalanx of the 4th toe 0.4% 1/258
Clinodactyly 0.4% 1/258
Clinodactyly of the 5th finger 0.4% 1/258
Clubbing 0.4% 1/258
Congenital giant melanocytic nevus 0.4% 1/258
Congenital, generalized hypertrichosis 0.4% 1/258
Curly hair 0.4% 1/258
Depigmentation/hyperpigmentation of skin 0.4% 1/258
Elbow hypertrichosis 0.4% 1/258
Facial hirsutism 0.4% 1/258
Frontal hirsutism 0.4% 1/258
High anterior hairline 0.4% 1/258
Hirsutism 0.4% 1/258
Hyperextensible skin 0.4% 1/258
Increased body weight 0.4% 1/258
Irregular hyperpigmentation 0.4% 1/258
Localized skin lesion 0.4% 1/258
Localized hirsutism 0.4% 1/258
Multiple cafe-au-lait spots 0.4% 1/258
Neoplasm of the skin 0.4% 1/258
Pallor 0.4% 1/258
Polyhydramnios 0.4% 1/258
Premature skin wrinkling 0.4% 1/258
Pressure ulcer 0.4% 1/258
Red hair 0.4% 1/258
Sacral hypertrichosis 0.4% 1/258
Short 5th finger 0.4% 1/258
Skin tags 0.4% 1/258
Slow-growing scalp hair 0.4% 1/258
Slow-growing hair 0.4% 1/258
Sparse eyebrow 0.4% 1/258
Spotty hyperpigmentation 0.4% 1/258
Striae distensae 0.4% 1/258
Thick eyebrow 0.4% 1/258
Thin toenail 0.4% 1/258
Urticaria 0.4% 1/258
Vitiligo 0.4% 1/258
Webbed neck 0.4% 1/258
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 18.2% 36/198
Hypothyroidism 7.1% 14/198
Growth hormone deficiency 5.1% 10/198
Type II diabetes mellitus 1.5% 3/198
Compensated hypothyroidism 1.0% 2/198
Diabetes mellitus 1.0% 2/198
Abnormality of thyroid physiology 0.5% 1/198
Abnormality of the thyroid gland 0.5% 1/198
Central hypothyroidism 0.5% 1/198
Congenital hypothyroidism 0.5% 1/198
Decreased circulating cortisol level 0.5% 1/198
Delayed puberty 0.5% 1/198
Elevated circulating parathyroid hormone (PTH) level 0.5% 1/198
Gynecomastia 0.5% 1/198
Increased circulating androgen level 0.5% 1/198
Increased serum free triiodothyronine (fT3) 0.5% 1/198
Precocious puberty 0.5% 1/198
Puberty and gonadal disorders 0.5% 1/198
Type I diabetes mellitus 0.5% 1/198
Abnormality of the metabolic system 8.0% 16/199
Hypercholesterolemia 1.0% 2/199
Hypocalcemia 1.0% 2/199
Anemia 0.5% 1/199
Diabetes mellitus 0.5% 1/199
Hypercalcemia 0.5% 1/199
Hyperinsulinemia 0.5% 1/199
Hyperammonemia 0.5% 1/199
Hyperglycemia 0.5% 1/199
Hypercalciuria 0.5% 1/199
Hypomagnesemia 0.5% 1/199
Methylmalonic acidemia 0.5% 1/199
Muscle abnormality related to mitochondrial dysfunction 0.5% 1/199
Neonatal hypoglycemia 0.5% 1/199
Obesity 0.5% 1/199
Type I diabetes mellitus 0.5% 1/199
Vitamin B12 deficiency 0.5% 1/199
Abnormality of the immune system 32.1% 72/224
Recurrent infections 11.6% 26/224
Recurrent otitis media 7.6% 17/224
Recurrent upper respiratory tract infections 6.7% 15/224
Recurrent respiratory infections 1.8% 4/224
Eczema 1.3% 3/224
Recurrent urinary tract infections 1.3% 3/224
Recurrent lower respiratory tract infections 1.3% 3/224
Respiratory infections in early life 1.3% 3/224
Allergy 0.9% 2/224
Chronic otitis media 0.9% 2/224
Asthma 0.4% 1/224
Bronchiolitis 0.4% 1/224
Conjunctivitis 0.4% 1/224
Decreased antibody level in blood 0.4% 1/224
Eosinophilia 0.4% 1/224
Lymphopenia 0.4% 1/224
Otitis media 0.4% 1/224
Panhypogammaglobulinemia 0.4% 1/224
Recurrent bronchitis 0.4% 1/224
Recurrent upper and lower respiratory tract infections 0.4% 1/224
Recurrent infections of the middle ear 0.4% 1/224
Recurrent bronchopulmonary infections 0.4% 1/224
Respiratory tract infection 0.4% 1/224
Seasonal allergy 0.4% 1/224
Small vessel vasculitis 0.4% 1/224
Neoplasia    
Neoplasia 0.8% 2/265
Abnormality of the lung 0.4% 1/265
Brain neoplasm 0.4% 1/265
Leydig cell neoplasia 0.4% 1/265
Sertoli cell neoplasm 0.4% 1/265