ARID1B

Graph and Chart

Patient Overview : 230

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 51.7% 119/230
Female 48.3% 111/230
General    
Motor delay 98.9% 187/189
Abnormal renal morphology 0.5% 1/189
Bilateral cryptorchidism 0.5% 1/189
Hydronephrosis 0.5% 1/189
Intellectual disabillity 98.1% 208/212
Abnormal renal morphology 0.5% 1/212
Bilateral cryptorchidism 0.5% 1/212
Hydronephrosis 0.5% 1/212
Neurology    
Neurological abnormalities 85.5% 177/207
Muscular hypotonia 30.0% 62/207
Generalized hypotonia 19.8% 41/207
Seizures 16.9% 35/207
Neonatal hypotonia 8.7% 18/207
Generalized tonic-clonic seizures 7.2% 15/207
Impaired pain sensation 6.3% 13/207
Central hypotonia 3.9% 8/207
EEG abnormality 3.9% 8/207
Febrile seizures 3.9% 8/207
Astereognosia 3.4% 7/207
Impaired visuospatial constructive cognition 3.4% 7/207
Visual agnosia 3.4% 7/207
Focal seizures with impairment of consciousness or awareness 2.9% 6/207
Abnormality of pain sensation 2.4% 5/207
Absence seizures 2.4% 5/207
Gait ataxia 2.4% 5/207
Developmental regression 1.9% 4/207
Motor delay 1.9% 4/207
Generalized tonic seizures 1.4% 3/207
Hyperreflexia 1.4% 3/207
Broad-based gait 1.0% 2/207
Colpocephaly 1.0% 2/207
Delayed myelination 1.0% 2/207
Focal seizures without impairment of consciousness or awareness 1.0% 2/207
Gait disturbance 1.0% 2/207
Generalized myoclonic seizures 1.0% 2/207
Hypertonia 1.0% 2/207
Lower limb hypertonia 1.0% 2/207
Muscular hypotonia of the trunk 1.0% 2/207
Poor fine motor coordination 1.0% 2/207
Upper limb hypertonia 1.0% 2/207
Abnormality of nervous system physiology 0.5% 1/207
Agenesis of corpus callosum 0.5% 1/207
Ataxia 0.5% 1/207
Atonic seizures 0.5% 1/207
Cerebral palsy 0.5% 1/207
Dysarthria 0.5% 1/207
Dysdiadochokinesis 0.5% 1/207
Dyskinesia 0.5% 1/207
Dysmetria 0.5% 1/207
Dysplastic corpus callosum 0.5% 1/207
Dystonia 0.5% 1/207
Exercise intolerance 0.5% 1/207
Gait apraxia 0.5% 1/207
Generalized seizures 0.5% 1/207
Global developmental delay 0.5% 1/207
Headache 0.5% 1/207
Infantile muscular hypotonia 0.5% 1/207
Oromandibular dystonia 0.5% 1/207
Partial agenesis of the corpus callosum 0.5% 1/207
Poor gross motor coordination 0.5% 1/207
Posterior fossa cyst 0.5% 1/207
Postural instability 0.5% 1/207
Torticollis 0.5% 1/207
Unsteady gait 0.5% 1/207
Widened subarachnoid space 0.5% 1/207
Behavioral problems 67.9% 125/184
Autistic behavior 32.1% 59/184
Hyperactivity 24.5% 45/184
Attention deficit hyperactivity disorder 13.6% 25/184
Short attention span 11.4% 21/184
Abnormal fear/anxiety-related behavior 8.2% 15/184
Autism 7.6% 14/184
Impaired social interactions 7.6% 14/184
Stereotypic behavior 7.6% 14/184
Aggressive behavior 7.1% 13/184
Obsessive-compulsive behavior 7.1% 13/184
Hyperkinesis 5.4% 10/184
Impulsivity 4.9% 9/184
Abnormal social behavior 3.3% 6/184
Anxiety 2.7% 5/184
Behavioral abnormality 2.7% 5/184
Impaired social reciprocity 2.7% 5/184
Obsessive-compulsive trait 2.2% 4/184
Abnormal aggressive, impulsive or violent behavior 1.6% 3/184
Self-injurious behavior 1.6% 3/184
Abnormal emotion/affect behavior 1.1% 2/184
Emotional lability 1.1% 2/184
Inflexible adherence to routines or rituals 1.1% 2/184
Oral aversion 1.1% 2/184
Absent speech 0.5% 1/184
Agoraphobia 0.5% 1/184
Clumsiness 0.5% 1/184
Developmental regression 0.5% 1/184
Hyperacusis 0.5% 1/184
Impaired pain sensation 0.5% 1/184
Overfriendliness 0.5% 1/184
Phonophobia 0.5% 1/184
Poor eye contact 0.5% 1/184
Repetitive compulsive behavior 0.5% 1/184
Restlessness 0.5% 1/184
Restrictive behavior 0.5% 1/184
Rigidity 0.5% 1/184
Shyness 0.5% 1/184
Sleep disturbance 0.5% 1/184
Violent behavior 0.5% 1/184
Brain abnormality 72.6% 119/164
Agenesis of corpus callosum 20.7% 34/164
Hypoplasia of the corpus callosum 9.1% 15/164
Partial agenesis of the corpus callosum 8.5% 14/164
Delayed myelination 7.3% 12/164
Enlarged cisterna magna 6.1% 10/164
Aplasia/Hypoplasia of the corpus callosum 5.5% 9/164
Colpocephaly 4.9% 8/164
Abnormality of the corpus callosum 3.7% 6/164
Short corpus callosum 3.7% 6/164
Arachnoid cyst 3.0% 5/164
Cerebellar cyst 3.0% 5/164
Dysplastic corpus callosum 3.0% 5/164
Retrocerebellar cyst 3.0% 5/164
Thick corpus callosum 3.0% 5/164
Ventriculomegaly 2.4% 4/164
Arnold-Chiari type I malformation 1.8% 3/164
Intracranial cystic lesion 1.8% 3/164
Aplasia/Hypoplasia of the cerebrum 1.2% 2/164
Attention deficit hyperactivity disorder 1.2% 2/164
Cerebellar hypoplasia 1.2% 2/164
Choroid plexus cyst 1.2% 2/164
Heterotopia 1.2% 2/164
Perivascular spaces 1.2% 2/164
Abnormal thalamic MRI signal intensity 0.6% 1/164
Absent septum pellucidum 0.6% 1/164
Aplasia/Hypoplasia involving the central nervous system 0.6% 1/164
Asymmetric ventricles 0.6% 1/164
Bilateral intracranial calcifications 0.6% 1/164
Brain atrophy 0.6% 1/164
Cavum septum pellucidum 0.6% 1/164
Cerebral atrophy 0.6% 1/164
Dandy-Walker malformation 0.6% 1/164
Encephalopathy 0.6% 1/164
Enlarged fetal cisterna magna 0.6% 1/164
Hydrocephalus 0.6% 1/164
Hypodysplasia of the corpus callosum 0.6% 1/164
Hypoplasia of the pons 0.6% 1/164
Lambdoidal craniosynostosis 0.6% 1/164
Microcephaly 0.6% 1/164
Midline central nervous system lipomas 0.6% 1/164
Multiple suture craniosynostosis 0.6% 1/164
Neonatal hypotonia 0.6% 1/164
Neoplasm of the central nervous system 0.6% 1/164
Pachygyria 0.6% 1/164
Polymicrogyria 0.6% 1/164
Prominent supraorbital ridges 0.6% 1/164
Relative macrocephaly 0.6% 1/164
Sagittal craniosynostosis 0.6% 1/164
Seizures 0.6% 1/164
Subarachnoid hemorrhage 0.6% 1/164
Talipes calcaneovarus 0.6% 1/164
Facial abnormalities    
Abnormality of the ear 61.8% 126/204
Low-set ears 13.2% 27/204
Abnormality of the pinna 10.3% 21/204
Low-set, posteriorly rotated ears 7.8% 16/204
Protruding ear 5.4% 11/204
Abnormality of the ear 4.9% 10/204
Abnormality of the outer ear 4.4% 9/204
Macrotia 4.4% 9/204
Posteriorly rotated ears 4.4% 9/204
Uplifted earlobe 3.9% 8/204
External ear malformation 2.9% 6/204
Preauricular pit 2.0% 4/204
Forward facing earlobe 1.5% 3/204
Overfolded helix 1.5% 3/204
Underdeveloped superior crus of antihelix 1.5% 3/204
Abnormal location of ears 1.0% 2/204
Cholesteatoma 1.0% 2/204
Cupped ear 1.0% 2/204
Small earlobe 1.0% 2/204
Thickened helices 1.0% 2/204
Abnormality of periauricular region 0.5% 1/204
Absent earlobe 0.5% 1/204
Asymmetry of the ears 0.5% 1/204
Darwin tubercle of helix 0.5% 1/204
Large earlobe 0.5% 1/204
Long ear 0.5% 1/204
Microtia 0.5% 1/204
Mild hearing impairment 0.5% 1/204
Periauricular skin pits 0.5% 1/204
Prominent ear helix 0.5% 1/204
Recurrent infections of the middle ear 0.5% 1/204
Satyr ear 0.5% 1/204
Thick eyebrow 0.5% 1/204
Abnormality of the eye 88.6% 186/210
Thick eyebrow 59.5% 125/210
Long eyelashes 48.6% 102/210
Downslanted palpebral fissures 13.8% 29/210
Periorbital wrinkles 8.1% 17/210
Ptosis 7.6% 16/210
Synophrys 7.6% 16/210
Upslanted palpebral fissure 6.2% 13/210
Epicanthus 5.7% 12/210
Bilateral ptosis 3.8% 8/210
Strabismus 3.8% 8/210
Abnormality of the lacrimal duct 3.3% 7/210
Long palpebral fissure 3.3% 7/210
Prominent eyelashes 3.3% 7/210
Hypertelorism 2.9% 6/210
Small palpebral fissure 2.9% 6/210
Unilateral ptosis 2.9% 6/210
Facial wrinkling 2.4% 5/210
Highly arched eyebrow 2.4% 5/210
Short palpebral fissure 1.9% 4/210
Proptosis 1.4% 3/210
Abnormality of the periorbital region 1.0% 2/210
Esotropia 1.0% 2/210
Nasolacrimal duct obstruction 1.0% 2/210
Abnormality of the nasolacrimal system 0.5% 1/210
Blue sclerae 0.5% 1/210
Broad forehead 0.5% 1/210
Congenital ptosis 0.5% 1/210
Decreased lacrimation 0.5% 1/210
Deeply set eye 0.5% 1/210
Excessive wrinkled skin 0.5% 1/210
Exotropia 0.5% 1/210
High forehead 0.5% 1/210
Horizontal nystagmus 0.5% 1/210
Lacrimal duct stenosis 0.5% 1/210
Lisch nodules 0.5% 1/210
Long eyebrows 0.5% 1/210
Lower eyelid edema 0.5% 1/210
Medial flaring of the eyebrow 0.5% 1/210
Muscular hypotonia of the trunk 0.5% 1/210
Periorbital fullness 0.5% 1/210
Prominent epicanthal folds 0.5% 1/210
Redundant skin 0.5% 1/210
Short eyelashes 0.5% 1/210
Abnormality of the nose 79.7% 165/207
Broad nasal tip 42.5% 88/207
Thick nasal alae 28.0% 58/207
Wide nasal bridge 24.6% 51/207
Wide nasal base 20.8% 43/207
Anteverted nares 18.4% 38/207
Depressed nasal bridge 13.0% 27/207
Short nose 11.6% 24/207
Long nose 8.7% 18/207
Bulbous nose 4.3% 9/207
Prominent nasal tip 2.9% 6/207
Wide nose 1.9% 4/207
Long philtrum 1.4% 3/207
Narrow nasal tip 1.4% 3/207
Prominent nasal bridge 1.4% 3/207
Thick lower lip vermilion 1.0% 2/207
Abnormal nasal morphology 0.5% 1/207
Broad philtrum 0.5% 1/207
Flat nasal alae 0.5% 1/207
Hypodontia 0.5% 1/207
Low hanging columella 0.5% 1/207
Narrow nasal bridge 0.5% 1/207
Nasal obstruction 0.5% 1/207
Papule 0.5% 1/207
Prominent nose 0.5% 1/207
Retrognathia 0.5% 1/207
Thick vermilion border 0.5% 1/207
Thin lower lip vermilion 0.5% 1/207
Underdeveloped nasal alae 0.5% 1/207
Abnormality of the mouth 92.4% 194/210
Wide mouth 53.3% 112/210
Thick lower lip vermilion 52.4% 110/210
Thin upper lip vermilion 28.1% 59/210
Long philtrum 25.2% 53/210
Thick upper lip vermilion 21.0% 44/210
Everted lower lip vermilion 20.5% 43/210
Broad philtrum 17.6% 37/210
Short philtrum 13.8% 29/210
Widely spaced teeth 13.8% 29/210
Delayed eruption of primary teeth 11.9% 25/210
High palate 10.5% 22/210
Delayed eruption of permanent teeth 6.7% 14/210
Gingival overgrowth 5.2% 11/210
Cleft palate 4.8% 10/210
Micrognathia 4.3% 9/210
Hypodontia 3.8% 8/210
Macroglossia 2.9% 6/210
Coarse facial features 2.4% 5/210
Bifid uvula 1.9% 4/210
Microdontia 1.9% 4/210
Open mouth 1.9% 4/210
Abnormality of the philtrum 1.4% 3/210
Abnormality of dental enamel 1.0% 2/210
Carious teeth 1.0% 2/210
High, narrow palate 1.0% 2/210
Mandibular prognathia 1.0% 2/210
Retrognathia 1.0% 2/210
Abnormality of the tongue 0.5% 1/210
Absent speech 0.5% 1/210
Advanced eruption of teeth 0.5% 1/210
Ankyloglossia 0.5% 1/210
Cleft soft palate 0.5% 1/210
Conical tooth 0.5% 1/210
Dental malocclusion 0.5% 1/210
Downturned corners of mouth 0.5% 1/210
Everted upper lip vermilion 0.5% 1/210
Excessive salivation 0.5% 1/210
Growth delay 0.5% 1/210
Irregular dentition 0.5% 1/210
Misalignment of teeth 0.5% 1/210
Overbite 0.5% 1/210
Pes planus 0.5% 1/210
Prominent palatine ridges 0.5% 1/210
Protruding tongue 0.5% 1/210
Short chin 0.5% 1/210
Small, conical teeth 0.5% 1/210
Smooth philtrum 0.5% 1/210
Submucous cleft lip 0.5% 1/210
Thick vermilion border 0.5% 1/210
Thin lower lip vermilion 0.5% 1/210
Widely-spaced incisors 0.5% 1/210
Visual and hearing impairments    
Abnormal hearing 25.4% 50/197
Hearing impairment 13.7% 27/197
Conductive hearing impairment 3.6% 7/197
Glue ear 3.0% 6/197
Bilateral sensorineural hearing impairment 1.5% 3/197
Moderate sensorineural hearing impairment 1.5% 3/197
Mild hearing impairment 1.0% 2/197
Severe sensorineural hearing impairment 1.0% 2/197
Abnormality of the tympanic membrane 0.5% 1/197
Hearing abnormality 0.5% 1/197
Hyperacusis 0.5% 1/197
Mild conductive hearing impairment 0.5% 1/197
Mixed hearing impairment 0.5% 1/197
Moderate conductive hearing impairment 0.5% 1/197
Otitis media 0.5% 1/197
Recurrent otitis media 0.5% 1/197
Sensorineural hearing impairment 0.5% 1/197
Severe hearing impairment 0.5% 1/197
Unilateral 0.5% 1/197
Abnormal vision 55.7% 103/185
Myopia 21.6% 40/185
Strabismus 11.9% 22/185
Visual impairment 7.6% 14/185
Astigmatism 7.0% 13/185
Hypermetropia 5.9% 11/185
Severe Myopia 5.9% 11/185
Nystagmus 3.8% 7/185
Abnormality of refraction 3.2% 6/185
Exotropia 2.2% 4/185
Unilateral strabismus 1.6% 3/185
Abnormality of vision 1.1% 2/185
Amblyopia 1.1% 2/185
Optic nerve hypoplasia 1.1% 2/185
Abnormality of the optic disc 0.5% 1/185
Blurred vision 0.5% 1/185
Cataract 0.5% 1/185
Coloboma 0.5% 1/185
Congenital cataract 0.5% 1/185
Corneal ulceration 0.5% 1/185
Cortical visual impairment 0.5% 1/185
Esotropia 0.5% 1/185
Increased intraocular pressure 0.5% 1/185
Keratoconus 0.5% 1/185
Optic nerve coloboma 0.5% 1/185
Peripapillary chorioretinal atrophy 0.5% 1/185
Heart    
Abnormality of the heart 25.1% 46/183
Atria septal defect 9.8% 18/183
Ventricular septal defect 4.4% 8/183
Patent foramen ovale 2.2% 4/183
Abnormality of the aortic valve 1.6% 3/183
Heart murmur 1.6% 3/183
Mitral regurgitation 1.6% 3/183
Abnormality of the aortic arch 1.1% 2/183
Bicuspid aortic valve 1.1% 2/183
Coarctation of aorta 1.1% 2/183
Abnormality of the vasculature 0.5% 1/183
Atrioventricular canal defect 0.5% 1/183
Bradycardia 0.5% 1/183
Cyanosis 0.5% 1/183
Left-to-right shunt 0.5% 1/183
Non-restrictive ventricular septal defect 0.5% 1/183
Patent ductus arteriosus 0.5% 1/183
Primum atrial septal defect 0.5% 1/183
Right ventricular dilatation 0.5% 1/183
Secundum atrial septal defect 0.5% 1/183
Ventricular extrasystoles 0.5% 1/183
Pulmonary    
Abnormality of the lungs 13.3% 2/15
Asthma 6.7% 1/15
Recurrent respiratory infections 6.7% 1/15
Gastrointestinal    
Gastrointestinal abnormalities 60.0% 111/185
Constipation 22.2% 41/185
Feeding difficulties in infancy 16.8% 31/185
Gastroesophageal reflux 13.0% 24/185
Feeding difficulties 11.4% 21/185
Umbilical hernia 4.3% 8/185
Diarrhea 2.7% 5/185
Inguinal hernia 2.7% 5/185
Failure to thrive 2.2% 4/185
Poor suck 2.2% 4/185
Gastrostomy tube feeding in infancy 1.6% 3/185
Nasogastric tube feeding in infancy 1.6% 3/185
Abnormality of the intestine 1.1% 2/185
Failure to thrive in infancy 1.1% 2/185
Hernia of the abdominal wall 1.1% 2/185
Lactose intolerance 1.1% 2/185
Laryngomalacia 1.1% 2/185
Pyloric stenosis 1.1% 2/185
Vomiting 1.1% 2/185
Abnormal vascular physiology 0.5% 1/185
Anal fistula 0.5% 1/185
Aspiration 0.5% 1/185
Celiac disease 0.5% 1/185
Cow milk allergy 0.5% 1/185
Dehydration 0.5% 1/185
Episodic vomiting 0.5% 1/185
Esophagitis 0.5% 1/185
Hepatosplenomegaly 0.5% 1/185
Hiatus hernia 0.5% 1/185
Hyperinsulinemia 0.5% 1/185
Intestinal obstruction 0.5% 1/185
Malnutrition 0.5% 1/185
Ulcerative colitis 0.5% 1/185
Urogenital    
Abnormality of the urogenital system 40.1% 69/172
Bilateral cryptorchidism 12.8% 22/172
Cryptorchidism 8.1% 14/172
Unilateral cryptorchidism 8.1% 14/172
Hydronephrosis 2.9% 5/172
Nephrolithiasis 2.9% 5/172
Inguinal hernia 2.3% 4/172
Retractile testis 2.3% 4/172
Vesicoureteral reflux 1.7% 3/172
Abnormality of the penis 1.2% 2/172
Increased size of the clitoris 1.2% 2/172
Abnormality of the ureter 0.6% 1/172
Aplasia of the upper vagina 0.6% 1/172
Clitoral hypertrophy 0.6% 1/172
Enuresis nocturna 0.6% 1/172
Hydroureter 0.6% 1/172
Hypoplastic male external genitalia 0.6% 1/172
Nephrocalcinosis 0.6% 1/172
Proteinuria 0.6% 1/172
Pyelonephritis 0.6% 1/172
Renal dysplasia 0.6% 1/172
Scrotal hypoplasia 0.6% 1/172
Stage 5 chronic kidney disease 0.6% 1/172
Unilateral renal atrophy 0.6% 1/172
Urethral valve 0.6% 1/172
Urinary retention 0.6% 1/172
Webbed penis 0.6% 1/172
Skeleton    
Skeletal abnormalities 86.8% 177/204
Scoliosis 21.1% 43/204
Abnormality of the distal phalanx of the 5th finger 19.1% 39/204
Clinodactyly 14.2% 29/204
Prominent interphalangeal joints 13.2% 27/204
Short distal phalanx of finger 11.8% 24/204
Sandal gap 10.3% 21/204
Delayed skeletal maturation 9.8% 20/204
Brachydactyly syndrome 8.3% 17/204
Short phalanx of finger 8.3% 17/204
Long hallux 6.4% 13/204
Short stature 6.4% 13/204
Abnormality of the neck 5.9% 12/204
Abnormality of the sternum 5.4% 11/204
Pes planus 4.4% 9/204
Brachycephaly 3.4% 7/204
Plagiocephaly 2.9% 6/204
Prominent fingertip pads 2.9% 6/204
Clinodactyly of the 5th finger 2.5% 5/204
Joint laxity 2.5% 5/204
Microcephaly 2.5% 5/204
Pectus excavatum 2.5% 5/204
Arthritis 2.0% 4/204
Patellar dislocation 2.0% 4/204
Single transverse palmar crease 2.0% 4/204
Abnormality of the thumb 1.5% 3/204
Broad thumb 1.5% 3/204
Cone-shaped epiphysis 1.5% 3/204
Delayed eruption of permanent teeth 1.5% 3/204
Dolichocephaly 1.5% 3/204
Frontal bossing 1.5% 3/204
Hallux valgus 1.5% 3/204
Hyperlordosis 1.5% 3/204
Joint hypermobility 1.5% 3/204
Short finger 1.5% 3/204
Abnormality of the distal phalanx of finger 1.0% 2/204
Accelerated skeletal maturation 1.0% 2/204
Aplasia/Hypoplasia of the distal phalanges of the hand 1.0% 2/204
Broad distal phalanx of finger 1.0% 2/204
Camptodactyly of finger 1.0% 2/204
Central hypotonia 1.0% 2/204
Delayed eruption of primary teeth 1.0% 2/204
Genu valgum 1.0% 2/204
Short middle phalanx of the 5th finger 1.0% 2/204
Triphalangeal thumb 1.0% 2/204
Widely spaced teeth 1.0% 2/204
Abnormality of the tarsal bones 0.5% 1/204
Adducted thumb 0.5% 1/204
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 0.5% 1/204
Bilateral elbow dislocations 0.5% 1/204
Broad phalanx of the toes 0.5% 1/204
Camptodactyly 0.5% 1/204
Carious teeth 0.5% 1/204
Clinodactyly of the 4th finger 0.5% 1/204
Congenital hip dislocation 0.5% 1/204
Coronal craniosynostosis 0.5% 1/204
Curved hallux phalanx 0.5% 1/204
Deep plantar creases 0.5% 1/204
Delayed eruption of teeth 0.5% 1/204
Dysharmonic delayed bone age 0.5% 1/204
Flat occiput 0.5% 1/204
Gingival overgrowth 0.5% 1/204
Hip dislocation 0.5% 1/204
Hypertrichosis 0.5% 1/204
Hypodontia 0.5% 1/204
Inguinal hernia 0.5% 1/204
Joint dislocation 0.5% 1/204
Kyphosis 0.5% 1/204
Lambdoidal craniosynostosis 0.5% 1/204
Limited elbow extension 0.5% 1/204
Long toe 0.5% 1/204
Macrocephaly 0.5% 1/204
Metatarsus adductus 0.5% 1/204
Micrognathia 0.5% 1/204
Mild short stature 0.5% 1/204
Oligodontia 0.5% 1/204
Overlapping toe 0.5% 1/204
Posterior plagiocephaly 0.5% 1/204
Proximal placement of thumb 0.5% 1/204
Recurrent patellar dislocation 0.5% 1/204
Rhizomelic arm shortening 0.5% 1/204
Rocker bottom foot 0.5% 1/204
Shortening of all phalanges of the toes 0.5% 1/204
Sparse scalp hair 0.5% 1/204
Spondylolysis 0.5% 1/204
Symphalangism affecting the phalanges of the 5th toe 0.5% 1/204
Talipes valgus 0.5% 1/204
Thick hair 0.5% 1/204
Thoracic scoliosis 0.5% 1/204
Toe syndactyly 0.5% 1/204
Toe walking 0.5% 1/204
Valgus foot deformity 0.5% 1/204
Wide intermamillary distance 0.5% 1/204
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 94.8% 200/211
Hypertrichosis 59.7% 126/211
Sparse scalp hair 38.9% 82/211
Low anterior hairline 28.9% 61/211
Hypoplastic fifth fingernail 23.2% 49/211
Thick hair 17.1% 36/211
Prominent fingertip pads 13.3% 28/211
Eczema 10.4% 22/211
Low posterior hairline 10.4% 22/211
Small nail 7.1% 15/211
Hypoplastic fifth toenail 6.6% 14/211
Generalized hypertrichosis 6.2% 13/211
Hypoplastic toenails 5.7% 12/211
Atopic dermatitis 4.7% 10/211
Wide intermamillary distance 4.7% 10/211
Hypoplastic fingernail 4.3% 9/211
Single transverse palmar crease 2.4% 5/211
Aplasia/Hypoplasia of the nails 1.9% 4/211
Excessive wrinkled skin 1.9% 4/211
Fine hair 1.9% 4/211
Abnormality of the scalp hair 1.4% 3/211
Cutis marmorata 1.4% 3/211
Hyperkeratosis 1.4% 3/211
Nevus 1.4% 3/211
Abnormally lax or hyperextensible skin 0.9% 2/211
Cafe-au-lait spot 0.9% 2/211
Hemangioma 0.9% 2/211
Hyperpigmentation of the skin 0.9% 2/211
Hypopigmentation of the skin 0.9% 2/211
Melanocytic nevus 0.9% 2/211
Numerous nevi 0.9% 2/211
Sacral dimple 0.9% 2/211
Sparse hair 0.9% 2/211
Thickened skin 0.9% 2/211
Thin nail 0.9% 2/211
Thoracic hypertrichosis 0.9% 2/211
Abnormality of hair growth 0.5% 1/211
Absent fifth fingernail 0.5% 1/211
Acanthosis nigricans 0.5% 1/211
Alopecia 0.5% 1/211
Bilateral single transverse palmar creases 0.5% 1/211
Clinodactyly 0.5% 1/211
Coarse hair 0.5% 1/211
Congenital giant melanocytic nevus 0.5% 1/211
Curly hair 0.5% 1/211
Deep palmar crease 0.5% 1/211
Depigmentation/hyperpigmentation of skin 0.5% 1/211
Elbow hypertrichosis 0.5% 1/211
Facial hypertrichosis 0.5% 1/211
Few cafe-au-lait spots 0.5% 1/211
Frontal hirsutism 0.5% 1/211
Hirsutism 0.5% 1/211
Hyperhidrosis 0.5% 1/211
Increased body weight 0.5% 1/211
Irregular hyperpigmentation 0.5% 1/211
Jaundice 0.5% 1/211
Localized skin lesion 0.5% 1/211
Multiple cafe-au-lait spots 0.5% 1/211
Neoplasm of the skin 0.5% 1/211
Pallor 0.5% 1/211
Polyhydramnios 0.5% 1/211
Premature skin wrinkling 0.5% 1/211
Red hair 0.5% 1/211
Sacral hypertrichosis 0.5% 1/211
Short 5th finger 0.5% 1/211
Skin tags 0.5% 1/211
Slow-growing nails 0.5% 1/211
Spotty hyperpigmentation 0.5% 1/211
Striae distensae 0.5% 1/211
Thick eyebrow 0.5% 1/211
Thin toenail 0.5% 1/211
Urticaria 0.5% 1/211
Vitiligo 0.5% 1/211
Webbed neck 0.5% 1/211
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 20.1% 31/154
Hypothyroidism 8.4% 13/154
Growth hormone deficiency 5.8% 9/154
Compensated hypothyroidism 1.3% 2/154
Diabetes mellitus 1.3% 2/154
Type II diabetes mellitus 1.3% 2/154
Abnormality of thyroid physiology 0.6% 1/154
Central hypothyroidism 0.6% 1/154
Congenital hypothyroidism 0.6% 1/154
Decreased circulating cortisol level 0.6% 1/154
Gynecomastia 0.6% 1/154
Increased circulating androgen level 0.6% 1/154
Puberty and gonadal disorders 0.6% 1/154
Type I diabetes mellitus 0.6% 1/154
Abnormality of the metabolic system 8.4% 13/155
Hypercholesterolemia 1.3% 2/155
Hypocalcemia 1.3% 2/155
Abnormality of metabolism/homeostasis 0.6% 1/155
Anemia 0.6% 1/155
Diabetes mellitus 0.6% 1/155
Hyperammonemia 0.6% 1/155
Hypomagnesemia 0.6% 1/155
Neonatal hypoglycemia 0.6% 1/155
Type I diabetes mellitus 0.6% 1/155
Vitamin B12 deficiency 0.6% 1/155
Abnormality of the immune system 36.5% 66/181
Recurrent infections 13.3% 24/181
Recurrent upper respiratory tract infections 8.3% 15/181
Eczema 1.7% 3/181
Recurrent respiratory infections 1.7% 3/181
Respiratory infections in early life 1.7% 3/181
Allergy 1.1% 2/181
Asthma 0.6% 1/181
Bronchiolitis 0.6% 1/181
Conjunctivitis 0.6% 1/181
Decreased antibody level in blood 0.6% 1/181
Eosinophilia 0.6% 1/181
Lymphopenia 0.6% 1/181
Otitis media 0.6% 1/181
Panhypogammaglobulinemia 0.6% 1/181
Recurrent infections of the middle ear 0.6% 1/181
Small vessel vasculitis 0.6% 1/181
Neoplasia    
Neoplasia 0.5% 1/211
Brain neoplasm 0.5% 1/211
Leydig cell neoplasia 0.5% 1/211
Sertoli cell neoplasm 0.5% 1/211