ARID1B

Graph and Chart

Patient Overview : 225

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 51.1% 115/225
Female 48.9% 110/225
General    
Motor delay 98.9% 182/184
Bilateral cryptorchidism 0.5% 1/184
Abnormal renal morphology 0.5% 1/184
Hydronephrosis 0.5% 1/184
Intellectual disabillity 98.1% 204/208
Bilateral cryptorchidism 0.5% 1/208
Abnormal renal morphology 0.5% 1/208
Hydronephrosis 0.5% 1/208
Neurology    
Neurological abnormalities 85.1% 172/202
Seizures 16.3% 33/202
Absence seizures 2.0% 4/202
Febrile seizures 3.5% 7/202
Generalized hypotonia 19.3% 39/202
Impaired pain sensation 5.9% 12/202
Generalized tonic-clonic seizures 7.4% 15/202
EEG abnormality 4.0% 8/202
Neonatal hypotonia 8.9% 18/202
Atonic seizures 0.5% 1/202
Muscular hypotonia 30.7% 62/202
Abnormality of pain sensation 2.5% 5/202
Poor fine motor coordination 1.0% 2/202
Focal seizures with impairment of consciousness or awareness 2.5% 5/202
Focal seizures 1.0% 2/202
Headache 0.5% 1/202
Generalized tonic seizures 1.0% 2/202
Generalized myoclonic seizures 1.0% 2/202
Unsteady gait 0.5% 1/202
Developmental regression 1.0% 2/202
Gait imbalance 0.5% 1/202
Cerebral palsy 0.5% 1/202
Broad-based gait 1.0% 2/202
Ataxia 0.5% 1/202
Infantile axial hypotonia 0.5% 1/202
Hyperreflexia 1.5% 3/202
Motor delay 2.0% 4/202
Muscular hypotonia of the trunk 0.5% 1/202
Global developmental delay 0.5% 1/202
Lower limb hyperreflexia 1.0% 2/202
Visual agnosia 3.5% 7/202
Impaired visuospatial constructive cognition 3.5% 7/202
Astereognosia 3.5% 7/202
Lower limb hypertonia 1.0% 2/202
Upper limb hypertonia 1.0% 2/202
Infantile muscular hypotonia 0.5% 1/202
Torticollis 0.5% 1/202
Oromandibular dystonia 0.5% 1/202
Exercise intolerance 0.5% 1/202
Poor gross motor coordination 0.5% 1/202
Dysarthria 0.5% 1/202
Gait disturbance 0.5% 1/202
Postural instability 0.5% 1/202
Dysmetria 0.5% 1/202
Dysdiadochokinesis 0.5% 1/202
Focal seizures without impairment of consciousness or awareness 1.0% 2/202
Gait ataxia 1.5% 3/202
Central hypotonia 4.0% 8/202
Posterior fossa cyst 0.5% 1/202
Abnormality of the subarachnoid space 0.5% 1/202
Colpocephaly 1.0% 2/202
Dysplastic corpus callosum 0.5% 1/202
Widened subarachnoid space 0.5% 1/202
Partial agenesis of the corpus callosum 0.5% 1/202
Delayed myelination 1.0% 2/202
Abnormality of the corpus callosum 0.5% 1/202
Agenesis of corpus callosum 0.5% 1/202
Gait apraxia 0.5% 1/202
Hypertonia 0.5% 1/202
Generalized seizures 0.5% 1/202
Behavioral problems 67.8% 122/180
Short attention span 11.1% 20/180
Anxiety 2.8% 5/180
Hyperactivity 24.4% 44/180
Attention deficit hyperactivity disorder 13.9% 25/180
Autistic behavior 32.8% 59/180
Hyperkinesis 5.6% 10/180
Obsessive-compulsive behavior 7.2% 13/180
Emotional lability 1.1% 2/180
Abnormal emotion/affect behavior 1.1% 2/180
Impulsivity 5.0% 9/180
Violent behavior 0.6% 1/180
Oral aversion 1.1% 2/180
Abnormal fear/anxiety-related behavior 7.8% 14/180
Autism 6.7% 12/180
Obsessive-compulsive trait 2.2% 4/180
Clumsiness 0.6% 1/180
Aggressive behavior 7.2% 13/180
Impaired social interactions 7.8% 14/180
Behavioral abnormality 2.8% 5/180
Inflexible adherence to routines or rituals 1.1% 2/180
Abnormal social behavior 3.3% 6/180
Sleep disturbance 0.6% 1/180
Repetitive compulsive behavior 0.6% 1/180
Stereotypic behavior 7.2% 13/180
Poor eye contact 0.6% 1/180
Impaired ability to form peer relationships 0.6% 1/180
Shyness 0.6% 1/180
Phonophobia 0.6% 1/180
Restrictive behavior 0.6% 1/180
Impaired social reciprocity 2.8% 5/180
Overfriendliness 0.6% 1/180
Abnormal aggressive, impulsive or violent behavior 1.7% 3/180
Self-injurious behavior 1.1% 2/180
Hyperacusis 0.6% 1/180
Developmental regression 0.6% 1/180
Absent speech 0.6% 1/180
Restlessness 0.6% 1/180
Rigidity 0.6% 1/180
Agoraphobia 0.6% 1/180
Impaired pain sensation 0.6% 1/180
Brain abnormality 73.0% 116/159
Enlarged cisterna magna 6.3% 10/159
Brain atrophy 0.6% 1/159
Abnormality of the periventricular white matter 0.6% 1/159
Abnormality of the corpus callosum 3.8% 6/159
Agenesis of corpus callosum 21.4% 34/159
Ventriculomegaly 1.9% 3/159
Dysplastic corpus callosum 3.1% 5/159
Hypoplasia of the corpus callosum 8.2% 13/159
Delayed myelination 6.9% 11/159
Arachnoid cyst 3.1% 5/159
Partial agenesis of the corpus callosum 8.8% 14/159
Pachygyria 0.6% 1/159
Colpocephaly 5.0% 8/159
Abnormality of cerebral veins 0.6% 1/159
Aplasia/Hypoplasia of the corpus callosum 5.7% 9/159
Intracranial cystic lesion 1.9% 3/159
Perivascular spaces 1.3% 2/159
Prominent supraorbital ridges 0.6% 1/159
Hypoplastic olfactory lobes 0.6% 1/159
Choroid plexus cyst 1.3% 2/159
Abnormality of the cerebral cortex 0.6% 1/159
Abnormality of the cerebellum 0.6% 1/159
Abnormality of the cerebral white matter 0.6% 1/159
Abnormality of corpus cavernosum 0.6% 1/159
Heterotopia 1.3% 2/159
Polymicrogyria 0.6% 1/159
Arnold-Chiari type I malformation 1.9% 3/159
Lambdoidal craniosynostosis 0.6% 1/159
Multiple suture craniosynostosis 0.6% 1/159
Sagittal craniosynostosis 0.6% 1/159
Cavum septum pellucidum 0.6% 1/159
Neonatal hypotonia 0.6% 1/159
Asymmetric ventricles 0.6% 1/159
Cerebellar cyst 3.1% 5/159
Cerebellar agenesis 0.6% 1/159
Microcephaly 0.6% 1/159
Hydrocephalus 0.6% 1/159
Relative macrocephaly 0.6% 1/159
Thick corpus callosum 3.1% 5/159
Short corpus callosum 3.8% 6/159
Cerebellar dysplasia 0.6% 1/159
Attention deficit hyperactivity disorder 1.3% 2/159
Retrocerebellar cyst 3.1% 5/159
Subarachnoid hemorrhage 0.6% 1/159
Abnormality of lateral ventricle 0.6% 1/159
Abnormal length of corpus callosum 0.6% 1/159
Enlarged fetal cisterna magna 0.6% 1/159
Hypoplasia of the brainstem 0.6% 1/159
Abnormality of midbrain morphology 0.6% 1/159
Seizures 0.6% 1/159
Aplasia/Hypoplasia of the cerebrum 1.3% 2/159
Cerebellar hypoplasia 1.3% 2/159
Dandy-Walker malformation 0.6% 1/159
Absent septum pellucidum 0.6% 1/159
Abnormality of neuronal migration 0.6% 1/159
Talipes calcaneovarus 0.6% 1/159
Encephalopathy 0.6% 1/159
Neoplasm of the central nervous system 0.6% 1/159
Cerebral hypoplasia 0.6% 1/159
Bilateral intracranial calcifications 0.6% 1/159
Abnormality of the pons 0.6% 1/159
Hypoplasia of the pons 0.6% 1/159
Abnormality of forebrain morphology 0.6% 1/159
Aplasia/Hypoplasia involving the central nervous system 0.6% 1/159
Hypodysplasia of the corpus callosum 0.6% 1/159
Abnormality of the choroid 0.6% 1/159
Facial abnormalities    
Abnormality of the ear 61.7% 124/201
Macrotia 4.5% 9/201
Abnormality of the ear 5.0% 10/201
Posteriorly rotated ears 4.5% 9/201
Uplifted earlobe 4.0% 8/201
Abnormality of earlobe 1.0% 2/201
Overfolded helix 1.5% 3/201
Forward facing earlobe 1.5% 3/201
Cupped ear 1.0% 2/201
Protruding ear 5.5% 11/201
Low-set ears 12.9% 26/201
Underdeveloped superior crus of antihelix 1.5% 3/201
Abnormality of the pinna 10.4% 21/201
Long eyelashes 0.5% 1/201
Thick eyebrow 0.5% 1/201
Abnormality of the outer ear 4.5% 9/201
Low-set, posteriorly rotated ears 8.0% 16/201
External ear malformation 3.0% 6/201
Large earlobe 0.5% 1/201
Small earlobe 1.0% 2/201
Thickened helices 1.0% 2/201
Asymmetry of the ears 0.5% 1/201
Abnormal location of ears 1.0% 2/201
Abnormality of periauricular region 0.5% 1/201
Satyr ear 0.5% 1/201
Preauricular pit 1.5% 3/201
Cholesteatoma 1.0% 2/201
Mild hearing impairment 0.5% 1/201
Recurrent otitis media 0.5% 1/201
Recurrent infections of the middle ear 0.5% 1/201
Periauricular skin pits 0.5% 1/201
Prominent crus of helix 0.5% 1/201
Absent earlobe 0.5% 1/201
Prominent ear helix 0.5% 1/201
Microtia 0.5% 1/201
Long ear 0.5% 1/201
Abnormality of the eye 88.3% 182/206
Long eyelashes 48.1% 99/206
Bilateral ptosis 3.9% 8/206
Periorbital wrinkles 8.3% 17/206
Highly arched eyebrow 1.9% 4/206
Muscular hypotonia of the trunk 0.5% 1/206
Thick eyebrow 59.7% 123/206
Downslanted palpebral fissures 13.6% 28/206
Epicanthus 5.8% 12/206
Upslanted palpebral fissure 6.3% 13/206
Long palpebral fissure 3.4% 7/206
Ptosis 7.8% 16/206
Synophrys 7.8% 16/206
Short eyelashes 0.5% 1/206
Facial wrinkling 2.4% 5/206
Small palpebral fissure 2.9% 6/206
Abnormality of the lacrimal duct 2.9% 6/206
Unilateral ptosis 2.9% 6/206
Lower eyelid edema 0.5% 1/206
Short palpebral fissure 1.9% 4/206
Long eyebrows 0.5% 1/206
Excessive wrinkled skin 0.5% 1/206
Prominent epicanthal folds 0.5% 1/206
Strabismus 3.9% 8/206
Broad forehead 0.5% 1/206
High forehead 0.5% 1/206
Hypertelorism 2.9% 6/206
Prominent eyelashes 3.4% 7/206
Blue sclerae 0.5% 1/206
Exotropia 0.5% 1/206
Congenital ptosis 0.5% 1/206
Lacrimal duct stenosis 0.5% 1/206
Esotropia 1.0% 2/206
Abnormality of the eyelashes 0.5% 1/206
Horizontal nystagmus 0.5% 1/206
Nasolacrimal duct obstruction 1.0% 2/206
Proptosis 1.5% 3/206
Deeply set eye 0.5% 1/206
Lisch nodules 0.5% 1/206
Abnormality of the periorbital region 1.0% 2/206
Redundant skin 0.5% 1/206
Abnormality of the nasolacrimal system 0.5% 1/206
Periorbital fullness 0.5% 1/206
Medial flaring of the eyebrow 0.5% 1/206
Abnormality of the nose 79.3% 161/203
Wide nasal bridge 24.6% 50/203
Depressed nasal bridge 13.3% 27/203
Anteverted nares 18.7% 38/203
Short nose 11.8% 24/203
Long nose 8.9% 18/203
Thick nasal alae 28.1% 57/203
Wide nasal base 21.2% 43/203
Thick lower lip vermilion 1.0% 2/203
Broad nasal tip 43.3% 88/203
Abnormality of the nasal alae 0.5% 1/203
Abnormality of the columella 0.5% 1/203
Narrow nasal tip 1.5% 3/203
Underdeveloped nasal alae 0.5% 1/203
Prominent nasal tip 2.5% 5/203
Bulbous nose 4.4% 9/203
Abnormality of the nasal bridge 0.5% 1/203
Long philtrum 1.5% 3/203
Nasal polyposis 0.5% 1/203
Nasal obstruction 0.5% 1/203
Thin upper lip vermilion 0.5% 1/203
Thin lower lip vermilion 0.5% 1/203
Thick upper lip vermilion 0.5% 1/203
Hypodontia 0.5% 1/203
Narrow nasal base 0.5% 1/203
Abnormality of the nasal tip 0.5% 1/203
Narrow nasal bridge 0.5% 1/203
Prominent nasal bridge 1.0% 2/203
Prominent nose 0.5% 1/203
Thick vermilion border 0.5% 1/203
Papule 0.5% 1/203
Retrognathia 0.5% 1/203
Flat nasal alae 0.5% 1/203
Broad philtrum 0.5% 1/203
Abnormal nasal morphology 0.5% 1/203
Wide nose 1.0% 2/203
Low hanging columella 0.5% 1/203
Abnormality of the mouth 92.7% 190/205
Long philtrum 25.9% 53/205
Wide mouth 54.1% 111/205
Thick upper lip vermilion 21.0% 43/205
Thick lower lip vermilion 52.7% 108/205
Abnormality of dental enamel 1.0% 2/205
Prominent palatine ridges 0.5% 1/205
Delayed eruption of primary teeth 12.2% 25/205
Delayed eruption of permanent teeth 6.8% 14/205
Widely spaced teeth 14.1% 29/205
Thin upper lip vermilion 28.8% 59/205
Everted lower lip vermilion 20.5% 42/205
Hypodontia 3.9% 8/205
High palate 10.7% 22/205
Broad philtrum 18.0% 37/205
Short philtrum 13.7% 28/205
Bifid uvula 2.0% 4/205
Cleft palate 4.9% 10/205
Mandibular prognathia 1.0% 2/205
Gingival overgrowth 5.4% 11/205
Everted upper lip vermilion 0.5% 1/205
Ankyloglossia 0.5% 1/205
Advanced eruption of teeth 0.5% 1/205
Open mouth 2.0% 4/205
Abnormality of mouth size 0.5% 1/205
Coarse facial features 2.4% 5/205
Abnormality of the gingiva 0.5% 1/205
Abnormality of the philtrum 1.5% 3/205
Microdontia 2.0% 4/205
Misalignment of teeth 0.5% 1/205
Widely spaced primary teeth 0.5% 1/205
Excessive salivation 0.5% 1/205
Overbite 0.5% 1/205
Macroglossia 2.4% 5/205
Thin lower lip vermilion 0.5% 1/205
Submucous cleft soft palate 0.5% 1/205
Short chin 0.5% 1/205
Micrognathia 4.4% 9/205
Downturned corners of mouth 0.5% 1/205
Widely-spaced incisors 0.5% 1/205
Thick vermilion border 0.5% 1/205
Protruding tongue 0.5% 1/205
Smooth philtrum 0.5% 1/205
Carious teeth 1.0% 2/205
Submucous cleft lip 0.5% 1/205
Conical tooth 0.5% 1/205
Retrognathia 0.5% 1/205
Small, conical teeth 0.5% 1/205
Dental malocclusion 0.5% 1/205
Absent speech 0.5% 1/205
High, narrow palate 1.0% 2/205
Abnormality of the tongue 0.5% 1/205
Growth delay 0.5% 1/205
Pes planus 0.5% 1/205
Cleft soft palate 0.5% 1/205
Visual and hearing impairments    
Abnormal hearing 25.5% 49/192
Bilateral conductive hearing impairment 1.6% 3/192
Hearing impairment 14.1% 27/192
Otitis media 0.5% 1/192
Conductive hearing impairment 3.6% 7/192
Hyperacusis 0.5% 1/192
Abnormality of the middle ear 0.5% 1/192
Sensorineural hearing impairment 0.5% 1/192
Severe hearing impairment 0.5% 1/192
Mild hearing impairment 1.0% 2/192
Abnormality of the tympanic membrane 0.5% 1/192
Mixed hearing impairment 0.5% 1/192
Bilateral sensorineural hearing impairment 1.6% 3/192
Moderate sensorineural hearing impairment 1.6% 3/192
Severe sensorineural hearing impairment 1.0% 2/192
Moderate conductive hearing impairment 0.5% 1/192
Mild conductive hearing impairment 0.5% 1/192
Unilateral 0.5% 1/192
Recurrent otitis media 0.5% 1/192
Glue ear 2.6% 5/192
Hearing abnormality 0.5% 1/192
Abnormal vision 56.0% 102/182
Nystagmus 3.8% 7/182
Severe Myopia 6.0% 11/182
Myopia 21.4% 39/182
Visual impairment 7.7% 14/182
Astigmatism 7.1% 13/182
Abnormality of refraction 3.3% 6/182
Hypermetropia 6.0% 11/182
Esotropia 0.5% 1/182
Strabismus 12.1% 22/182
Unilateral strabismus 1.6% 3/182
Optic nerve hypoplasia 1.1% 2/182
Coloboma 0.5% 1/182
Corneal ulceration 0.5% 1/182
Blurred vision 0.5% 1/182
Cortical visual impairment 0.5% 1/182
Exotropia 2.2% 4/182
Amblyopia 1.1% 2/182
Optic nerve coloboma 0.5% 1/182
Increased intraocular pressure 0.5% 1/182
Cataract 0.5% 1/182
Abnormality of the optic disc 0.5% 1/182
Peripapillary chorioretinal atrophy 0.5% 1/182
Keratoconus 0.5% 1/182
Congenital cataract 0.5% 1/182
Abnormality of vision 1.1% 2/182
Heart    
Abnormality of the heart 25.3% 45/178
Atria septal defect 10.1% 18/178
Mitral regurgitation 1.7% 3/178
Atrioventricular block 0.6% 1/178
Patent foramen ovale 2.2% 4/178
Ventricular septal defect 4.5% 8/178
Abnormality of the tricuspid valve 0.6% 1/178
Atrioventricular canal defect 0.6% 1/178
Coarctation of aorta 1.1% 2/178
Bicuspid aortic valve 1.1% 2/178
Abnormality of the aortic valve 1.7% 3/178
Abnormality of the atrial septum 1.1% 2/178
Cyanosis 0.6% 1/178
Bradycardia 0.6% 1/178
Heart murmur 1.7% 3/178
Non-restrictive ventricular septal defect 0.6% 1/178
Patent ductus arteriosus 0.6% 1/178
Secundum atrial septal defect 0.6% 1/178
Left-to-right shunt 0.6% 1/178
Abnormal heart morphology 1.1% 2/178
Abnormality of the cardiac septa 0.6% 1/178
Right ventricular dilatation 0.6% 1/178
Primum atrial septal defect 0.6% 1/178
Abnormality of the aortic arch 1.1% 2/178
Abnormality of the left ventricle 0.6% 1/178
Abnormality of the vasculature 0.6% 1/178
Pulmonary    
Abnormality of the lungs 10.0% 1/10
Asthma 10.0% 1/10
Gastrointestinal    
Gastrointestinal abnormalities 60.0% 108/180
Constipation 21.7% 39/180
Diarrhea 2.8% 5/180
Gastroesophageal reflux 13.3% 24/180
Feeding difficulties 11.1% 20/180
Feeding difficulties in infancy 16.7% 30/180
Lactose intolerance 1.1% 2/180
Aspiration 0.6% 1/180
Gastrostomy tube feeding in infancy 1.7% 3/180
Inguinal hernia 2.8% 5/180
Hiatus hernia 0.6% 1/180
Esophagitis 0.6% 1/180
Nasogastric tube feeding in infancy 1.7% 3/180
Pyloric stenosis 1.1% 2/180
Laryngomalacia 1.1% 2/180
Umbilical hernia 4.4% 8/180
Episodic vomiting 0.6% 1/180
Abnormality of the intestine 1.1% 2/180
Hernia of the abdominal wall 1.1% 2/180
Anal fistula 0.6% 1/180
Poor suck 1.7% 3/180
Failure to thrive in infancy 1.1% 2/180
Failure to thrive 1.1% 2/180
Dehydration 0.6% 1/180
Cow milk allergy 0.6% 1/180
Malnutrition 0.6% 1/180
Intestinal malrotation 0.6% 1/180
Vomiting 1.1% 2/180
Hyperinsulinemia 0.6% 1/180
Intestinal lymphangiectasia 0.6% 1/180
Intestinal obstruction 0.6% 1/180
Celiac disease 0.6% 1/180
Abnormality of the gastrointestinal tract 0.6% 1/180
Abnormal vascular physiology 0.6% 1/180
Ulcerative colitis 0.6% 1/180
Hepatosplenomegaly 0.6% 1/180
Urogenital    
Abnormality of the urogenital system 40.7% 68/167
Abnormality of the urinary system 1.2% 2/167
Bilateral cryptorchidism 13.2% 22/167
Inguinal hernia 2.4% 4/167
Enuresis nocturna 0.6% 1/167
Proteinuria 0.6% 1/167
Unilateral cryptorchidism 7.8% 13/167
Abnormality of the kidney 0.6% 1/167
Cryptorchidism 8.4% 14/167
Aplasia of the uterus 0.6% 1/167
Aplasia of the upper vagina 0.6% 1/167
Vesicoureteral reflux 1.2% 2/167
Nephrolithiasis 3.0% 5/167
Hydronephrosis 2.4% 4/167
Retractile testis 2.4% 4/167
Abnormality of the testis 0.6% 1/167
Abnormality of the penis 1.2% 2/167
Increased size of the clitoris 1.2% 2/167
Hydrocele testis 0.6% 1/167
Urinary retention 0.6% 1/167
Hypoplastic male external genitalia 0.6% 1/167
Webbed penis 0.6% 1/167
Scrotal hypoplasia 0.6% 1/167
Pyelonephritis 0.6% 1/167
Clitoral hypertrophy 0.6% 1/167
Hydroureter 0.6% 1/167
Nephrocalcinosis 0.6% 1/167
Stage 5 chronic kidney disease 0.6% 1/167
Abnormality of the urinary system physiology 0.6% 1/167
Abnormal renal morphology 0.6% 1/167
Unilateral renal atrophy 0.6% 1/167
Urethral valve 0.6% 1/167
Skeleton    
Skeletal abnormalities 86.4% 172/199
Clinodactyly 14.6% 29/199
Hip dislocation 0.5% 1/199
Short 5th finger 12.1% 24/199
Short phalanx of finger 8.5% 17/199
Short distal phalanx of finger 12.1% 24/199
Delayed skeletal maturation 10.1% 20/199
Scoliosis 21.1% 42/199
Prominent interphalangeal joints 13.6% 27/199
Abnormality of the neck 6.0% 12/199
Abnormality of the sternum 5.5% 11/199
Adducted thumb 0.5% 1/199
Long hallux 6.5% 13/199
Arthritis 2.0% 4/199
Brachydactyly syndrome 8.5% 17/199
Abnormality of the distal phalanx of the 5th finger 19.6% 39/199
Triphalangeal thumb 1.0% 2/199
Sandal gap 10.6% 21/199
Cone-shaped epiphysis 1.5% 3/199
Abnormality of the phalanges of the 5th finger 0.5% 1/199
Aplasia/Hypoplasia of the phalanges of the 5th toe 0.5% 1/199
Symphalangism affecting the phalanges of the 5th toe 0.5% 1/199
Hyperlordosis 1.0% 2/199
Pes planus 3.0% 6/199
Aplasia/Hypoplasia of the phalanges of the hand 1.0% 2/199
Patellar dislocation 1.5% 3/199
Prominent fingertip pads 3.0% 6/199
Accelerated skeletal maturation 1.0% 2/199
Aplasia/Hypoplasia of fingers 0.5% 1/199
Joint hypermobility 1.5% 3/199
Aplasia/Hypoplasia of the distal phalanges of the hand 0.5% 1/199
Talipes valgus 0.5% 1/199
Aplasia/Hypoplasia of the distal phalanges of the toes 0.5% 1/199
Short metacarpal 1.0% 2/199
Short metatarsal 1.0% 2/199
Camptodactyly of finger 0.5% 1/199
Short hallux 0.5% 1/199
Spondylolysis 0.5% 1/199
Short sternum 0.5% 1/199
Abnormality of the thumb 1.5% 3/199
Abnormality of the vertebrae 0.5% 1/199
Aplasia/Hypoplasia of the 2nd finger 0.5% 1/199
Overlapping toe 0.5% 1/199
Sparse scalp hair 0.5% 1/199
Thick hair 0.5% 1/199
Hypertrichosis 0.5% 1/199
Aplasia/Hypoplasia of the nails 0.5% 1/199
Valgus foot deformity 0.5% 1/199
Broad foot 0.5% 1/199
Deep plantar creases 0.5% 1/199
Broad distal phalanges of all fingers 0.5% 1/199
Broad distal phalanx of finger 1.0% 2/199
Shortening of all phalanges of fingers 0.5% 1/199
Shortening of all phalanges of the toes 0.5% 1/199
Clinodactyly of the 5th finger 2.0% 4/199
Proximal placement of thumb 0.5% 1/199
Abnormal joint morphology 0.5% 1/199
Short stature 6.5% 13/199
Abnormal metacarpal morphology 0.5% 1/199
Toe walking 0.5% 1/199
Short distal phalanx of the 5th finger 1.5% 3/199
Microcephaly 2.5% 5/199
Brachycephaly 3.5% 7/199
Broad hallux 1.5% 3/199
Short finger 1.5% 3/199
Congenital hip dislocation 0.5% 1/199
Plagiocephaly 3.0% 6/199
Genu valgum 1.0% 2/199
Rocker bottom foot 0.5% 1/199
Pectus excavatum 2.5% 5/199
Short toe 1.0% 2/199
Flat occiput 0.5% 1/199
Abnormality of the scapula 0.5% 1/199
Limited elbow extension 0.5% 1/199
Short neck 1.0% 2/199
Single transverse palmar crease 2.0% 4/199
Macrocephaly 0.5% 1/199
Metatarsus adductus 0.5% 1/199
Abnormality of the distal phalanx of finger 1.0% 2/199
Frontal bossing 1.5% 3/199
Dolichocephaly 1.0% 2/199
Joint laxity 2.0% 4/199
Long toe 0.5% 1/199
Abnormality of the calvaria 0.5% 1/199
Hallux valgus 1.0% 2/199
Abnormality of the occipital bone 0.5% 1/199
Rhizomelic leg shortening 0.5% 1/199
Rhizomelic arm shortening 0.5% 1/199
Delayed eruption of primary teeth 1.0% 2/199
Central hypotonia 1.0% 2/199
Abnormal cervical curvature 0.5% 1/199
Broad thumb 1.5% 3/199
Kyphosis 0.5% 1/199
Widely spaced teeth 1.0% 2/199
Delayed eruption of permanent teeth 1.5% 3/199
Hypodontia 0.5% 1/199
Oligodontia 0.5% 1/199
Gingival overgrowth 0.5% 1/199
Carious teeth 0.5% 1/199
Abnormality of the hip bone 0.5% 1/199
Toe syndactyly 0.5% 1/199
Thoracic scoliosis 0.5% 1/199
Coronal craniosynostosis 0.5% 1/199
Lambdoidal craniosynostosis 0.5% 1/199
Bilateral elbow dislocations 0.5% 1/199
Inguinal hernia 0.5% 1/199
Wide intermamillary distance 0.5% 1/199
Micrognathia 0.5% 1/199
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 0.5% 1/199
Short middle phalanx of the 5th finger 1.0% 2/199
Mild short stature 0.5% 1/199
Broad distal hallux 0.5% 1/199
Dysharmonic delayed bone age 0.5% 1/199
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 95.6% 197/206
Low posterior hairline 10.7% 22/206
Sparse scalp hair 39.8% 82/206
Fine hair 1.9% 4/206
Hypertrichosis 60.7% 125/206
Prominent fingertip pads 13.1% 27/206
Hemangioma 1.0% 2/206
Low anterior hairline 29.1% 60/206
Wide intermamillary distance 4.9% 10/206
Generalized hypertrichosis 5.8% 12/206
Small nail 7.3% 15/206
Abnormal position of hair whorl 0.5% 1/206
Eczema 10.7% 22/206
Thick hair 17.5% 36/206
Hypoplastic fifth fingernail 23.8% 49/206
Hypoplastic toenails 5.8% 12/206
Hypoplastic fifth toenail 6.8% 14/206
Atopic dermatitis 4.9% 10/206
Abnormality of the distal phalanx of the 5th finger 0.5% 1/206
Short distal phalanx of finger 0.5% 1/206
Hypoplastic fingernail 4.4% 9/206
Urticaria 0.5% 1/206
Bilateral single transverse palmar creases 0.5% 1/206
Deep palmar crease 0.5% 1/206
Striae distensae 0.5% 1/206
Hyperextensible skin 0.5% 1/206
Cutis marmorata 1.5% 3/206
Sparse hair 1.0% 2/206
Excessive wrinkled skin 1.9% 4/206
Thin fingernail 1.0% 2/206
Thin toenail 0.5% 1/206
Thin nail 1.0% 2/206
Numerous nevi 1.0% 2/206
Cafe-au-lait spot 1.0% 2/206
Single transverse palmar crease 2.4% 5/206
Nevus 1.5% 3/206
Hirsutism 0.5% 1/206
Abnormality of the skin 0.5% 1/206
Aplasia/Hypoplasia of the nails 1.9% 4/206
Hyperpigmentation of the skin 1.0% 2/206
Depigmentation/hyperpigmentation of skin 0.5% 1/206
Thick eyebrow 0.5% 1/206
Alopecia 0.5% 1/206
Thoracic hypertrichosis 1.0% 2/206
Abnormality of the scalp hair 1.5% 3/206
Frontal hirsutism 0.5% 1/206
Webbed neck 0.5% 1/206
Thickened skin 1.0% 2/206
Abnormally lax or hyperextensible skin 1.0% 2/206
Neoplasm of the skin 0.5% 1/206
Hyperkeratosis 1.5% 3/206
Irregular hyperpigmentation 0.5% 1/206
Spotty hyperpigmentation 0.5% 1/206
Sacral dimple 1.0% 2/206
Facial hirsutism 0.5% 1/206
Melanocytic nevus 1.0% 2/206
Localized hirsutism 0.5% 1/206
Pallor 0.5% 1/206
Skin tags 0.5% 1/206
Hypopigmentation of the skin 1.0% 2/206
Clinodactyly of the 5th finger 0.5% 1/206
Localized skin lesion 0.5% 1/206
Premature skin wrinkling 0.5% 1/206
Absent fifth toenail 0.5% 1/206
Absent fifth fingernail 0.5% 1/206
Multiple cafe-au-lait spots 0.5% 1/206
Curly hair 0.5% 1/206
Increased body weight 0.5% 1/206
Jaundice 0.5% 1/206
Acanthosis nigricans 0.5% 1/206
Red hair 0.5% 1/206
Congenital, generalized hypertrichosis 0.5% 1/206
Elbow hypertrichosis 0.5% 1/206
Facial hypertrichosis 0.5% 1/206
Polyhydramnios 0.5% 1/206
Abnormality of hair growth rate 0.5% 1/206
Slow-growing scalp hair 0.5% 1/206
Slow-growing nails 0.5% 1/206
Clinodactyly 0.5% 1/206
Short 5th finger 0.5% 1/206
Sacral hypertrichosis 0.5% 1/206
Congenital giant melanocytic nevus 0.5% 1/206
Vitiligo 0.5% 1/206
Abnormality of the hair 0.5% 1/206
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 20.8% 31/149
Type II diabetes mellitus 1.3% 2/149
Growth hormone deficiency 6.0% 9/149
Hypothyroidism 8.7% 13/149
Congenital hypothyroidism 0.7% 1/149
Diabetes mellitus 1.3% 2/149
Puberty and gonadal disorders 0.7% 1/149
Gynecomastia 0.7% 1/149
Type I diabetes mellitus 0.7% 1/149
Compensated hypothyroidism 1.3% 2/149
Increased serum free triiodothyronine (fT3) 0.7% 1/149
Abnormality of thyroid physiology 0.7% 1/149
Central hypothyroidism 0.7% 1/149
Decreased circulating cortisol level 0.7% 1/149
Increased circulating androgen level 0.7% 1/149
Abnormality of the metabolic system 7.3% 11/151
Diabetes mellitus 0.7% 1/151
Hypercalciuria 0.7% 1/151
Hyperglycemia 0.7% 1/151
Hypomagnesemia 0.7% 1/151
Hypocalcemia 0.7% 1/151
Neonatal hypoglycemia 0.7% 1/151
Type I diabetes mellitus 0.7% 1/151
Hypercholesterolemia 1.3% 2/151
Anemia 0.7% 1/151
Vitamin B12 deficiency 0.7% 1/151
Hyperinsulinemia 0.7% 1/151
Abnormality of metabolism/homeostasis 0.7% 1/151
Hypercalcemia 0.7% 1/151
Abnormality of the immune system 37.5% 66/176
Recurrent otitis media 8.5% 15/176
Recurrent upper respiratory tract infections 8.5% 15/176
Recurrent infections 13.6% 24/176
Recurrent urinary tract infections 1.7% 3/176
Recurrent lower respiratory tract infections 1.7% 3/176
Conjunctivitis 0.6% 1/176
Recurrent upper and lower respiratory tract infections 0.6% 1/176
Bronchiolitis 0.6% 1/176
Allergy 1.1% 2/176
Decreased antibody level in blood 0.6% 1/176
Eosinophilia 0.6% 1/176
Recurrent respiratory infections 1.7% 3/176
Otitis media 0.6% 1/176
Recurrent bronchitis 0.6% 1/176
Eczema 1.7% 3/176
Respiratory infections in early life 1.7% 3/176
Small vessel vasculitis 0.6% 1/176
Recurrent bronchopulmonary infections 0.6% 1/176
Lymphopenia 0.6% 1/176
Panhypogammaglobulinemia 0.6% 1/176
Asthma 0.6% 1/176
Recurrent infections of the middle ear 0.6% 1/176
Neoplasia    
Neoplasia 0.5% 1/206
Sertoli cell neoplasm 0.5% 1/206
Leydig cell neoplasia 0.5% 1/206
Brain neoplasm 0.5% 1/206