ARID1B

Graph and Chart

Patient Overview : 210

General

Frequency of all clinical findings

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