ARID1A

Graph and Chart

Patient Overview : 109

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.5% 55/109
Female 48.6% 53/109
Indifferent 0% 0/109
Unknown 0.9% 1/109
General    
Birth Length abnormalities 2.8% 3/106
< P3 : Birth length less than 3rd percentile 2.8% 3/106
Birth Weight abnormalities 10.4% 11/106
< P3 : Small for gestational age 10.4% 11/106
Birth Head circumference abnormalities 4.8% 5/105
> P98 : Macrocephaly at birth 1.9% 2/105
< P3 : Congenital microcephaly 2.9% 3/105
Current Height abnormalities 25.5% 27/106
< P3 : Short stature 20.8% 22/106
> P98 : Tall stature 4.7% 5/106
Current Weight abnormalities 22.6% 24/106
< P3 : Decreased body weight 17.0% 18/106
> P98 : Increased body weight 5.7% 6/106
Current Head circumference abnormalities 25.5% 27/106
> P98 : Macrocephaly 14.2% 15/106
< P3 : Microcephaly 11.3% 12/106
Neurology    
Neurological abnormalities 74.4% 61/82
Generalized hypotonia 28.0% 23/82
Seizures 19.5% 16/82
EEG abnormality 8.5% 7/82
Febrile seizures 7.3% 6/82
Gait disturbance 6.1% 5/82
Central hypotonia 4.9% 4/82
Generalized tonic-clonic seizures 4.9% 4/82
Absence seizures 3.7% 3/82
Focal seizures with impairment of consciousness or awareness 3.7% 3/82
Gait ataxia 3.7% 3/82
Generalized tonic seizures 2.4% 2/82
Neonatal hypotonia 2.4% 2/82
Abnormal nerve conduction velocity 1.2% 1/82
Abnormality of pelvic girdle bone morphology 1.2% 1/82
Aganglionic megacolon 1.2% 1/82
Arnold-Chiari malformation 1.2% 1/82
Atypical absence seizures 1.2% 1/82
Bilateral convulsive seizures 1.2% 1/82
Delayed speech and language development 1.2% 1/82
Epileptic encephalopathy 1.2% 1/82
Focal seizures 1.2% 1/82
Focal seizures without impairment of consciousness or awareness 1.2% 1/82
Generalized myoclonic seizures 1.2% 1/82
Generalized neonatal hypotonia 1.2% 1/82
Generalized seizures 1.2% 1/82
Global developmental delay 1.2% 1/82
Hypertonia 1.2% 1/82
Hyperreflexia 1.2% 1/82
Infantile spasms 1.2% 1/82
Kyphoscoliosis 1.2% 1/82
Lower limb asymmetry 1.2% 1/82
Motor delay 1.2% 1/82
Muscular hypotonia 1.2% 1/82
Neurodevelopmental delay 1.2% 1/82
Postural instability 1.2% 1/82
Progressive neurologic deterioration 1.2% 1/82
Stroke 1.2% 1/82
Behavioral problems 66.7% 52/78
Autistic behavior 21.8% 17/78
Attention deficit hyperactivity disorder 16.7% 13/78
Short attention span 16.7% 13/78
Autism 12.8% 10/78
Hyperactivity 10.3% 8/78
Aggressive behavior 7.7% 6/78
Behavioral abnormality 6.4% 5/78
Pain insensitivity 6.4% 5/78
Abnormal fear/anxiety-related behavior 3.8% 3/78
Anxiety 3.8% 3/78
Impaired social interactions 3.8% 3/78
Impulsivity 3.8% 3/78
Self-mutilation 3.8% 3/78
Stereotypic behavior 3.8% 3/78
Repetitive compulsive behavior 2.6% 2/78
Sleep disturbance 2.6% 2/78
Abnormal aggressive, impulsive or violent behavior 1.3% 1/78
Contracture of the proximal interphalangeal joint of the 2nd finger 1.3% 1/78
Emotional lability 1.3% 1/78
Feeding difficulties in infancy 1.3% 1/78
Impaired ability to form peer relationships 1.3% 1/78
Inappropriate crying 1.3% 1/78
Irritability 1.3% 1/78
Mutism 1.3% 1/78
Obsessive-compulsive trait 1.3% 1/78
Obsessive-compulsive behavior 1.3% 1/78
Phonophobia 1.3% 1/78
Poor coordination 1.3% 1/78
Restlessness 1.3% 1/78
Restrictive behavior 1.3% 1/78
Self-injurious behavior 1.3% 1/78
Brain abnormality 79.8% 67/84
Agenesis of corpus callosum 26.2% 22/84
Dandy-Walker malformation 10.7% 9/84
Hypoplasia of the corpus callosum 10.7% 9/84
Ventriculomegaly 10.7% 9/84
Delayed myelination 7.1% 6/84
Cerebellar vermis hypoplasia 6.0% 5/84
Enlarged cisterna magna 6.0% 5/84
Hydrocephalus 6.0% 5/84
Abnormality of the corpus callosum 4.8% 4/84
Aplasia/Hypoplasia of the cerebellum 4.8% 4/84
Partial agenesis of the corpus callosum 4.8% 4/84
Cerebellar hypoplasia 3.6% 3/84
Cerebral atrophy 3.6% 3/84
Colpocephaly 3.6% 3/84
Dysplastic corpus callosum 3.6% 3/84
Heterotopia 3.6% 3/84
Abnormality of the cerebral cortex 2.4% 2/84
Abnormality of the choroid plexus 2.4% 2/84
Abnormality of the cerebellum 2.4% 2/84
Arachnoid cyst 2.4% 2/84
Arnold-Chiari malformation 2.4% 2/84
Intracranial cystic lesion 2.4% 2/84
Mild fetal ventriculomegaly 2.4% 2/84
Perivascular spaces 2.4% 2/84
Posterior fossa cyst 2.4% 2/84
Widened subarachnoid space 2.4% 2/84
Abnormality of lateral ventricle 1.2% 1/84
Abnormality of the cerebellar vermis 1.2% 1/84
Abnormality of the cerebrum 1.2% 1/84
Abnormality of the pituitary gland 1.2% 1/84
Abnormality of brainstem morphology 1.2% 1/84
Abnormality of the posterior cranial fossa 1.2% 1/84
Abnormality of the fourth ventricle 1.2% 1/84
Abnormality of the dentate nucleus 1.2% 1/84
Abnormal cortical gyration 1.2% 1/84
Abnormal length of corpus callosum 1.2% 1/84
Absent septum pellucidum 1.2% 1/84
Agenesis of the anterior commissure 1.2% 1/84
Anterior pituitary hypoplasia 1.2% 1/84
Aplasia/Hypoplasia of the cerebellar vermis 1.2% 1/84
Aplasia/Hypoplasia of the corpus callosum 1.2% 1/84
Atrophy/Degeneration affecting the cerebrum 1.2% 1/84
Brachycephaly 1.2% 1/84
Cerebral hemorrhage 1.2% 1/84
Cerebral hypoplasia 1.2% 1/84
Cerebral hamartomata 1.2% 1/84
Cerebral hypomyelination 1.2% 1/84
Cortical dysplasia 1.2% 1/84
Dilated third ventricle 1.2% 1/84
Ectopic posterior pituitary 1.2% 1/84
Epidural hemorrhage 1.2% 1/84
Gray matter heterotopias 1.2% 1/84
Holoprosencephaly 1.2% 1/84
Hyperostosis frontalis interna 1.2% 1/84
Hypoplasia of the frontal lobes 1.2% 1/84
Hypothalamic hamartoma 1.2% 1/84
Limbic malformations 1.2% 1/84
Morphological abnormality of the central nervous system 1.2% 1/84
Periventricular leukomalacia 1.2% 1/84
Periventricular gray matter heterotopia 1.2% 1/84
Polyhydramnios 1.2% 1/84
Severely dysplastic cerebellum 1.2% 1/84
Short corpus callosum 1.2% 1/84
Villous hypertrophy of choroid plexus 1.2% 1/84
Facial abnormalities    
Abnormality of the ear 67.8% 59/87
Low-set ears 23.0% 20/87
Abnormality of the pinna 16.1% 14/87
Microtia 8.0% 7/87
Posteriorly rotated ears 8.0% 7/87
Low-set, posteriorly rotated ears 6.9% 6/87
Microtia, third degree 3.4% 3/87
Preauricular pit 3.4% 3/87
Protruding ear 3.4% 3/87
Abnormality of the helix 2.3% 2/87
Anteverted ears 2.3% 2/87
Cupped ear 2.3% 2/87
Forward facing earlobe 2.3% 2/87
Macrotia 2.3% 2/87
Periauricular skin pits 2.3% 2/87
Preauricular skin tag 2.3% 2/87
Small earlobe 2.3% 2/87
Abnormal location of ears 1.1% 1/87
Abnormality of earlobe 1.1% 1/87
Abnormality of the auditory canal 1.1% 1/87
Anterior creases of earlobe 1.1% 1/87
Aplasia/Hypoplasia of the tragus 1.1% 1/87
Aplasia/Hypoplasia of the earlobes 1.1% 1/87
Auricular pit 1.1% 1/87
Cleft earlobe 1.1% 1/87
Coarse facial features 1.1% 1/87
External ear malformation 1.1% 1/87
Frontal bossing 1.1% 1/87
Large earlobe 1.1% 1/87
Low posterior hairline 1.1% 1/87
Overfolded helix 1.1% 1/87
Pointed helix 1.1% 1/87
Prominent antihelix 1.1% 1/87
Sparse body hair 1.1% 1/87
Telecanthus 1.1% 1/87
Uplifted earlobe 1.1% 1/87
Abnormality of the eye 86.8% 79/91
Long eyelashes 34.1% 31/91
Thick eyebrow 34.1% 31/91
Hypertelorism 30.8% 28/91
Ptosis 16.5% 15/91
Downslanted palpebral fissures 9.9% 9/91
Upslanted palpebral fissure 9.9% 9/91
Deeply set eye 6.6% 6/91
Highly arched eyebrow 6.6% 6/91
Sparse eyebrow 6.6% 6/91
Strabismus 4.4% 4/91
Epicanthus 3.3% 3/91
Long palpebral fissure 3.3% 3/91
Synophrys 3.3% 3/91
Blepharophimosis 2.2% 2/91
Small palpebral fissure 2.2% 2/91
Sparse lateral eyebrow 2.2% 2/91
Abnormal size of the palpebral fissures 1.1% 1/91
Abnormality of the eyelid 1.1% 1/91
Abnormality of the philtrum 1.1% 1/91
Abnormality of the palpebral fissures 1.1% 1/91
Abnormality of the lacrimal duct 1.1% 1/91
Abnormality of the periorbital region 1.1% 1/91
Anterior uveitis 1.1% 1/91
Anterior segment dysgenesis 1.1% 1/91
Anteverted nares 1.1% 1/91
Aplasia/Hypoplasia of the eyebrow 1.1% 1/91
Bilateral ptosis 1.1% 1/91
Broad eyebrow 1.1% 1/91
Coloboma 1.1% 1/91
Epibulbar dermoid 1.1% 1/91
Exotropia 1.1% 1/91
Hyperopic astigmatism 1.1% 1/91
Iris atrophy 1.1% 1/91
Long philtrum 1.1% 1/91
Microphthalmia 1.1% 1/91
Optic nerve coloboma 1.1% 1/91
Palpebral edema 1.1% 1/91
Palpebral fissure narrowing on adduction 1.1% 1/91
Periorbital fullness 1.1% 1/91
Retinal dysplasia 1.1% 1/91
Short palpebral fissure 1.1% 1/91
Sparse or absent eyelashes 1.1% 1/91
Sparse eyelashes 1.1% 1/91
Unilateral ptosis 1.1% 1/91
Unilateral strabismus 1.1% 1/91
Abnormality of the nose 80.9% 72/89
Wide nasal bridge 24.7% 22/89
Thick nasal alae 22.5% 20/89
Anteverted nares 21.3% 19/89
Depressed nasal bridge 21.3% 19/89
Broad nasal tip 20.2% 18/89
Wide nose 16.9% 15/89
Short nose 15.7% 14/89
Long philtrum 14.6% 13/89
Bulbous nose 10.1% 9/89
Short philtrum 10.1% 9/89
Broad philtrum 6.7% 6/89
Prominent nasal bridge 5.6% 5/89
Low hanging columella 4.5% 4/89
Smooth philtrum 3.4% 3/89
Wide nasal base 3.4% 3/89
Abnormality of the nasal tip 2.2% 2/89
Abnormality of the nasal alae 2.2% 2/89
Depressed nasal tip 2.2% 2/89
Epicanthus 2.2% 2/89
Long nose 2.2% 2/89
Absent nasal bridge 1.1% 1/89
Choanal stenosis 1.1% 1/89
Cleft palate 1.1% 1/89
Narrow nasal bridge 1.1% 1/89
Abnormality of the mouth 84.6% 77/91
Thick lower lip vermilion 47.3% 43/91
Wide mouth 35.2% 32/91
Thick upper lip vermilion 28.6% 26/91
High palate 16.5% 15/91
Thin upper lip vermilion 12.1% 11/91
Retrognathia 11.0% 10/91
Everted lower lip vermilion 9.9% 9/91
Micrognathia 7.7% 7/91
Coarse facial features 4.4% 4/91
Long philtrum 4.4% 4/91
Macroglossia 4.4% 4/91
Absent speech 3.3% 3/91
Cleft palate 3.3% 3/91
Downturned corners of mouth 3.3% 3/91
Thin lower lip vermilion 3.3% 3/91
Broad philtrum 2.2% 2/91
Everted upper lip vermilion 2.2% 2/91
Nasogastric tube feeding in infancy 2.2% 2/91
Thick vermilion border 2.2% 2/91
Abnormal lung lobation 1.1% 1/91
Abnormality of upper lip 1.1% 1/91
Abnormality of lower lip 1.1% 1/91
Ankyloglossia 1.1% 1/91
Delayed eruption of teeth 1.1% 1/91
Dental malocclusion 1.1% 1/91
Feeding difficulties 1.1% 1/91
Feeding difficulties in infancy 1.1% 1/91
Gastrostomy tube feeding in infancy 1.1% 1/91
Hypomimic face 1.1% 1/91
Hypoplasia of the maxilla 1.1% 1/91
Long face 1.1% 1/91
Microretrognathia 1.1% 1/91
Misalignment of teeth 1.1% 1/91
Narrow palate 1.1% 1/91
Open mouth 1.1% 1/91
Pierre-Robin sequence 1.1% 1/91
Poor suck 1.1% 1/91
Premature loss of teeth 1.1% 1/91
Protruding tongue 1.1% 1/91
Short lingual frenulum 1.1% 1/91
Short philtrum 1.1% 1/91
Short chin 1.1% 1/91
Smooth philtrum 1.1% 1/91
Visual and hearing impairments    
Abnormal hearing 45.9% 34/74
Glue ear 13.5% 10/74
Conductive hearing impairment 10.8% 8/74
Hearing impairment 8.1% 6/74
Stenosis of the external auditory canal 5.4% 4/74
Abnormality of the auditory canal 4.1% 3/74
Cholesteatoma 4.1% 3/74
Mild hearing impairment 4.1% 3/74
Atresia of the external auditory canal 2.7% 2/74
Morphological abnormality of the middle ear 2.7% 2/74
Narrow internal auditory canal 2.7% 2/74
Sensorineural hearing impairment 2.7% 2/74
Unilateral deafness 2.7% 2/74
Abnormality of the middle ear 1.4% 1/74
Aplasia/Hypoplasia of the middle ear 1.4% 1/74
Bilateral sensorineural hearing impairment 1.4% 1/74
Childhood onset sensorineural hearing impairment 1.4% 1/74
Chronic otitis media 1.4% 1/74
Excessive cerumen 1.4% 1/74
Functional abnormality of the middle ear 1.4% 1/74
Mid-frequency hearing loss 1.4% 1/74
Mild conductive hearing impairment 1.4% 1/74
Moderate sensorineural hearing impairment 1.4% 1/74
Morphological abnormality of the inner ear 1.4% 1/74
Recurrent otitis media 1.4% 1/74
Unilateral conductive hearing impairment 1.4% 1/74
Abnormal vision 66.7% 52/78
Strabismus 24.4% 19/78
Myopia 15.4% 12/78
Esotropia 11.5% 9/78
Hypermetropia 9.0% 7/78
Astigmatism 7.7% 6/78
Amblyopia 5.1% 4/78
Cortical visual impairment 3.8% 3/78
Exotropia 3.8% 3/78
Nystagmus 3.8% 3/78
Severe Myopia 3.8% 3/78
Visual impairment 3.8% 3/78
High-grade hypermetropia 2.6% 2/78
Hyperopic astigmatism 2.6% 2/78
Retinopathy 2.6% 2/78
Abnormality of vision 1.3% 1/78
Abnormality of the macula 1.3% 1/78
Abnormality of the eye 1.3% 1/78
Abnormality of the choroid 1.3% 1/78
Anterior segment dysgenesis 1.3% 1/78
Cataract 1.3% 1/78
Coloboma 1.3% 1/78
Congenital horizontal nystagmus 1.3% 1/78
Glaucoma 1.3% 1/78
Optic nerve hypoplasia 1.3% 1/78
Optic nerve coloboma 1.3% 1/78
Retinal dysplasia 1.3% 1/78
Self-mutilation 1.3% 1/78
Unilateral strabismus 1.3% 1/78
Heart    
Abnormality of the heart 48.9% 46/94
Ventricular septal defect 12.8% 12/94
Patent foramen ovale 8.5% 8/94
Atria septal defect 7.4% 7/94
Patent ductus arteriosus 7.4% 7/94
Coarctation of aorta 5.3% 5/94
Persistent left superior vena cava 5.3% 5/94
Secundum atrial septal defect 5.3% 5/94
Abnormality of the vena cava 4.3% 4/94
Abnormality of the atrial septum 3.2% 3/94
Abnormal heart morphology 3.2% 3/94
Abnormality of the mitral valve 3.2% 3/94
Hypoplastic aortic arch 3.2% 3/94
Perimembranous ventricular septal defect 3.2% 3/94
Pulmonary hypertension 3.2% 3/94
Right ventricular dilatation 3.2% 3/94
Abnormality of the aorta 2.1% 2/94
Abnormality of the right ventricle 2.1% 2/94
Atrial flutter 2.1% 2/94
Bicuspid aortic valve 2.1% 2/94
Double outlet right ventricle 2.1% 2/94
Hypoplastic left heart 2.1% 2/94
Abnormality of the aortic arch 1.1% 1/94
Abnormality of the ventricular septum 1.1% 1/94
Abnormal ventriculo-arterial connection 1.1% 1/94
Anomalous muscle bundle of the right ventricle 1.1% 1/94
Aortic valve stenosis 1.1% 1/94
Aortic dilatation 1.1% 1/94
Aortic root dilatation 1.1% 1/94
Atrioventricular block 1.1% 1/94
Bilateral superior vena cava with bridging vein 1.1% 1/94
Cardiogenic shock 1.1% 1/94
Complete atrioventricular canal defect 1.1% 1/94
Congenital malformation of the right heart 1.1% 1/94
Dextrocardia 1.1% 1/94
Hypertrophic cardiomyopathy 1.1% 1/94
Imperforate atrioventricular valve 1.1% 1/94
Left superior vena cava draining to coronary sinus 1.1% 1/94
Left-to-right shunt 1.1% 1/94
Mitral valve prolapse 1.1% 1/94
Partial atrioventricular canal defect 1.1% 1/94
Partial anomalous pulmonary venous return 1.1% 1/94
Patent ductus arteriosus after birth at term 1.1% 1/94
Pericardial effusion 1.1% 1/94
Postductal coarctation of the aorta 1.1% 1/94
Primary atrial arrhythmia 1.1% 1/94
Pulmonary valve defects 1.1% 1/94
Pulmonic stenosis 1.1% 1/94
Right ventricular hypertrophy 1.1% 1/94
Right atrial enlargement 1.1% 1/94
Tetralogy of Fallot 1.1% 1/94
Transposition of the great arteries 1.1% 1/94
Vascular ring 1.1% 1/94
Ventricular preexcitation 1.1% 1/94
Wolff-Parkinson-White syndrome 1.1% 1/94
Pulmonary    
Abnormality of the lungs 51.0% 26/51
Neonatal respiratory distress 25.5% 13/51
Recurrent respiratory infections 13.7% 7/51
Laryngomalacia 11.8% 6/51
Pulmonary hypertension 5.9% 3/51
Asthma 3.9% 2/51
Abnormality of the respiratory system 2.0% 1/51
Abnormality of the vocal cords 2.0% 1/51
Allergic rhinitis 2.0% 1/51
Chronic lung disease 2.0% 1/51
Recurrent upper respiratory tract infections 2.0% 1/51
Respiratory distress 2.0% 1/51
Respiratory insufficiency 2.0% 1/51
Respiratory failure 2.0% 1/51
Spontaneous neonatal pneumothorax 2.0% 1/51
Gastrointestinal    
Gastrointestinal abnormalities 72.5% 66/91
Feeding difficulties in infancy 20.9% 19/91
Gastroesophageal reflux 16.5% 15/91
Feeding difficulties 15.4% 14/91
Nasogastric tube feeding in infancy 15.4% 14/91
Gastrostomy tube feeding in infancy 13.2% 12/91
Constipation 11.0% 10/91
Failure to thrive in infancy 6.6% 6/91
Episodic vomiting 5.5% 5/91
Chronic constipation 4.4% 4/91
Poor suck 4.4% 4/91
Anal atresia 3.3% 3/91
Congenital diaphragmatic hernia 3.3% 3/91
Abdominal distention 2.2% 2/91
Fatigable weakness of swallowing muscles 2.2% 2/91
Inguinal hernia 2.2% 2/91
Pyloric stenosis 2.2% 2/91
Abnormal eating behavior 1.1% 1/91
Absent gallbladder 1.1% 1/91
Aganglionic megacolon 1.1% 1/91
Agenesis of the diaphragm 1.1% 1/91
Anal stenosis 1.1% 1/91
Anorectal anomaly 1.1% 1/91
Anteriorly placed anus 1.1% 1/91
Congenital pyloric atresia 1.1% 1/91
Crohn's disease 1.1% 1/91
Elevated hepatic transaminases 1.1% 1/91
Functional abnormality of the gastrointestinal tract 1.1% 1/91
Gastritis 1.1% 1/91
Ileal atresia 1.1% 1/91
Intestinal obstruction 1.1% 1/91
Malnutrition 1.1% 1/91
Polysplenia 1.1% 1/91
Protuberant abdomen 1.1% 1/91
Single umbilical artery 1.1% 1/91
Urethral fistula 1.1% 1/91
Urogenital    
Abnormality of the urogenital system 39.1% 36/92
Bilateral cryptorchidism 4.3% 4/92
Hydronephrosis 3.3% 3/92
Unilateral cryptorchidism 3.3% 3/92
Abnormality of the uterus 2.2% 2/92
Bifid ureter 2.2% 2/92
Hypoplasia of the uterus 2.2% 2/92
Hypospadias 2.2% 2/92
Multiple renal cysts 2.2% 2/92
Renal hypoplasia 2.2% 2/92
Ureter duplex 2.2% 2/92
Uterus didelphys 2.2% 2/92
Abnormality of the mesentery 1.1% 1/92
Abnormality of the anus 1.1% 1/92
Abnormality of the kidney 1.1% 1/92
Abnormality of the renal pelvis 1.1% 1/92
Acute kidney injury 1.1% 1/92
Anal atresia 1.1% 1/92
Anteriorly placed anus 1.1% 1/92
Congenital megaureter 1.1% 1/92
Cryptorchidism 1.1% 1/92
Dilatation of the renal pelvis 1.1% 1/92
Duplicated collecting system 1.1% 1/92
Ectopic kidney 1.1% 1/92
Horseshoe kidney 1.1% 1/92
Hyperplastic labia majora 1.1% 1/92
Hypoplastic labia majora 1.1% 1/92
Inguinal hernia 1.1% 1/92
Megacalicosis 1.1% 1/92
Multiple bladder diverticula 1.1% 1/92
Nephrolithiasis 1.1% 1/92
Paraphimosis 1.1% 1/92
Pelvic kidney 1.1% 1/92
Pyelonephritis 1.1% 1/92
Recurrent urinary tract infections 1.1% 1/92
Renal malrotation 1.1% 1/92
Unilateral renal dysplasia 1.1% 1/92
Unilateral renal agenesis 1.1% 1/92
Ureteropelvic junction obstruction 1.1% 1/92
Ureteral duplication 1.1% 1/92
Skeleton    
Skeletal abnormalities 88.7% 86/97
Joint laxity 20.6% 20/97
Pes planus 19.6% 19/97
Scoliosis 18.6% 18/97
Short 5th finger 14.4% 14/97
Clinodactyly of the 5th finger 10.3% 10/97
Short distal phalanx of the 5th finger 8.2% 8/97
Short stature 8.2% 8/97
Delayed eruption of permanent teeth 6.2% 6/97
Delayed eruption of teeth 6.2% 6/97
Dental crowding 6.2% 6/97
Sandal gap 6.2% 6/97
Broad thumb 5.2% 5/97
Widely spaced teeth 5.2% 5/97
Broad hallux 4.1% 4/97
Camptodactyly 4.1% 4/97
Delayed eruption of primary teeth 4.1% 4/97
Growth delay 4.1% 4/97
Irregular dentition 4.1% 4/97
Kyphoscoliosis 4.1% 4/97
Macrocephaly 4.1% 4/97
Pectus excavatum 4.1% 4/97
Short middle phalanx of the 5th finger 4.1% 4/97
Dental malocclusion 3.1% 3/97
Muscle weakness 3.1% 3/97
Plagiocephaly 3.1% 3/97
Prominent interphalangeal joints 3.1% 3/97
Sacral dimple 3.1% 3/97
Short distal phalanx of the 5th toe 3.1% 3/97
Short finger 3.1% 3/97
Short 5th toe 3.1% 3/97
Abnormality of the ribs 2.1% 2/97
Abnormality of the foot 2.1% 2/97
Abnormality of the teeth 2.1% 2/97
Abnormality of the lumbar spine 2.1% 2/97
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 2.1% 2/97
Clinodactyly 2.1% 2/97
Curved hallux phalanx 2.1% 2/97
Dolichocephaly 2.1% 2/97
Frontal bossing 2.1% 2/97
Genu valgum 2.1% 2/97
Genu recurvatum 2.1% 2/97
Hallux valgus 2.1% 2/97
Hip dysplasia 2.1% 2/97
Hyperlordosis 2.1% 2/97
Long hallux 2.1% 2/97
Long fingers 2.1% 2/97
Misalignment of teeth 2.1% 2/97
Short distal phalanx of finger 2.1% 2/97
Supernumerary ribs 2.1% 2/97
Talipes equinovarus 2.1% 2/97
Abnormality of the 4th toe 1.0% 1/97
Abnormality of the 5th finger 1.0% 1/97
Abnormality of the sternum 1.0% 1/97
Abnormality of multiple cell lineages in the bone marrow 1.0% 1/97
Abnormality of the femur 1.0% 1/97
Abnormality of the cervical spine 1.0% 1/97
Abnormality of the thoracic spine 1.0% 1/97
Abnormality of the vertebral column 1.0% 1/97
Abnormality of the skeletal system 1.0% 1/97
Abnormal vertebral segmentation and fusion 1.0% 1/97
Abnormality of digit 1.0% 1/97
Abnormality of the thumb 1.0% 1/97
Abnormality of cranial sutures 1.0% 1/97
Abnormality of mandibular ramus 1.0% 1/97
Abnormality of the 3rd finger 1.0% 1/97
Aplasia/Hypoplasia of the middle phalanx of the 5th toe 1.0% 1/97
Aplasia/Hypoplasia of the middle phalanx of the 5th finger 1.0% 1/97
Aplasia of the distal phalanx of the 5th toe 1.0% 1/97
Aplasia of the distal phalanx of the 5th finger 1.0% 1/97
Aplasia/Hypoplasia of the mandible 1.0% 1/97
Aplastic anemia 1.0% 1/97
Arthrogryposis multiplex congenita 1.0% 1/97
Bilateral camptodactyly 1.0% 1/97
Bilateral choanal atresia 1.0% 1/97
Brachycephaly 1.0% 1/97
Brachytelomesophalangy 1.0% 1/97
Broad 1st metacarpal 1.0% 1/97
Broad distal phalanx of finger 1.0% 1/97
Broad distal hallux 1.0% 1/97
Broad distal phalanx of the thumb 1.0% 1/97
Broad toe 1.0% 1/97
Broad distal phalanx of the toes 1.0% 1/97
Bruxism 1.0% 1/97
Butterfly vertebrae 1.0% 1/97
Calf muscle hypoplasia 1.0% 1/97
Cervical vertebral fusion (C2/C3) 1.0% 1/97
Clinodactyly of the 4th toe 1.0% 1/97
Clinodactyly of the 2nd toe 1.0% 1/97
Clinodactyly of the 3rd toe 1.0% 1/97
Compensatory scoliosis 1.0% 1/97
Contracture of the proximal interphalangeal joint of the 2nd finger 1.0% 1/97
Coronal craniosynostosis 1.0% 1/97
Craniosynostosis 1.0% 1/97
Curved phalanges of the 5th finger 1.0% 1/97
Delayed skeletal maturation 1.0% 1/97
Deviation of the 5th toe 1.0% 1/97
Dysharmonic bone age 1.0% 1/97
Dysplastic sacrum 1.0% 1/97
Dystonia 1.0% 1/97
Enlarged interphalangeal joints 1.0% 1/97
Equinus calcaneus 1.0% 1/97
Failure to thrive in infancy 1.0% 1/97
Fetal fifth finger clinodactyly 1.0% 1/97
Finger clinodactyly 1.0% 1/97
Hand polydactyly 1.0% 1/97
High palate 1.0% 1/97
Hypertrichosis 1.0% 1/97
Inguinal hernia 1.0% 1/97
Kyphosis 1.0% 1/97
Limb dysmetria 1.0% 1/97
Lower limb amyotrophy 1.0% 1/97
Lumbar kyphoscoliosis 1.0% 1/97
Lumbar hyperlordosis 1.0% 1/97
Medial deviation of the foot 1.0% 1/97
Metopic synostosis 1.0% 1/97
Microcephaly 1.0% 1/97
Multiple joint contractures 1.0% 1/97
Narrow internal auditory canal 1.0% 1/97
Narrow foot 1.0% 1/97
Narrow forehead 1.0% 1/97
Oligodontia 1.0% 1/97
Overlapping toe 1.0% 1/97
Pain insensitivity 1.0% 1/97
Patellar dislocation 1.0% 1/97
Pectus excavatum of inferior sternum 1.0% 1/97
Pes cavus 1.0% 1/97
Pierre-Robin sequence 1.0% 1/97
Polyarticular arthritis 1.0% 1/97
Proximal placement of thumb 1.0% 1/97
Recurrent patellar dislocation 1.0% 1/97
Rocker bottom foot 1.0% 1/97
Scapular winging 1.0% 1/97
Short fourth metatarsal 1.0% 1/97
Short middle phalanx of finger 1.0% 1/97
Shortening of all distal phalanges of the fingers 1.0% 1/97
Short thumb 1.0% 1/97
Short 2nd toe 1.0% 1/97
Short femur 1.0% 1/97
Short neck 1.0% 1/97
Short metatarsal 1.0% 1/97
Short middle phalanx of the 5th toe 1.0% 1/97
Short 4th toe 1.0% 1/97
Short 4th finger 1.0% 1/97
Short toe 1.0% 1/97
Short metacarpal 1.0% 1/97
Spondylolysis 1.0% 1/97
Supernumerary vertebrae 1.0% 1/97
Talipes calcaneovalgus 1.0% 1/97
Talipes 1.0% 1/97
Tapered finger 1.0% 1/97
Thoracolumbar kyphoscoliosis 1.0% 1/97
Thoracic hemivertebrae 1.0% 1/97
Toe clinodactyly 1.0% 1/97
Trigonocephaly 1.0% 1/97
Wide intermamillary distance 1.0% 1/97
2-3 finger syndactyly 1.0% 1/97
4-5 finger syndactyly 1.0% 1/97
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 75.8% 69/91
Hypertrichosis 14.3% 13/91
Hypoplastic fifth toenail 11.0% 10/91
Low anterior hairline 9.9% 9/91
Small nail 9.9% 9/91
Thick hair 9.9% 9/91
Prominent fingertip pads 8.8% 8/91
Sparse scalp hair 8.8% 8/91
Hypoplastic fifth fingernail 7.7% 7/91
Aplasia/Hypoplasia of the nails 4.4% 4/91
Facial hypertrichosis 4.4% 4/91
Hypoplastic toenails 4.4% 4/91
Coarse hair 3.3% 3/91
Fingernail dysplasia 3.3% 3/91
Hypoplastic fingernail 3.3% 3/91
Striae distensae 3.3% 3/91
Abnormality of the nail 2.2% 2/91
Absent fifth fingernail 2.2% 2/91
Atypical scarring of skin 2.2% 2/91
Dry skin 2.2% 2/91
Fine hair 2.2% 2/91
Generalized hypertrichosis 2.2% 2/91
Hyperpigmentation of the skin 2.2% 2/91
Hypopigmentation of the skin 2.2% 2/91
Psoriasis 2.2% 2/91
Single transverse palmar crease 2.2% 2/91
Abnormal hair whorl 1.1% 1/91
Abnormality of the distal phalanges of the toes 1.1% 1/91
Abnormal hair quantity 1.1% 1/91
Abnormality of the fingernails 1.1% 1/91
Abnormality of hair growth rate 1.1% 1/91
Abnormality of the scalp hair 1.1% 1/91
Absent fifth toenail 1.1% 1/91
Absent toenail 1.1% 1/91
Absent fingernail 1.1% 1/91
Atopic dermatitis 1.1% 1/91
Brachydactyly syndrome 1.1% 1/91
Cafe-au-lait spot 1.1% 1/91
Deep palmar crease 1.1% 1/91
Deep-set nails 1.1% 1/91
Dystrophic toenail 1.1% 1/91
Eczema 1.1% 1/91
Elbow hypertrichosis 1.1% 1/91
Erythroderma 1.1% 1/91
Extension of hair growth on temples to lateral eyebrow 1.1% 1/91
Frontal bossing 1.1% 1/91
Growth delay 1.1% 1/91
Hallux valgus 1.1% 1/91
Hemangioma 1.1% 1/91
Keloids 1.1% 1/91
Long eyelashes 1.1% 1/91
Low posterior hairline 1.1% 1/91
Lumbar hypertrichosis 1.1% 1/91
Lumbosacral hirsutism 1.1% 1/91
Osteopenia 1.1% 1/91
Overlapping fingers 1.1% 1/91
Polyarticular arthritis 1.1% 1/91
Retrognathia 1.1% 1/91
Sacral dimple 1.1% 1/91
Scoliosis 1.1% 1/91
Short nail 1.1% 1/91
Short neck 1.1% 1/91
Slow-growing scalp hair 1.1% 1/91
Slow-growing nails 1.1% 1/91
Sparse hair 1.1% 1/91
Sparse anterior scalp hair 1.1% 1/91
Spatulate thumbs 1.1% 1/91
Synophrys 1.1% 1/91
Thick nail 1.1% 1/91
Thin fingernail 1.1% 1/91
Thin nail 1.1% 1/91
Vascular skin abnormality 1.1% 1/91
Webbed neck 1.1% 1/91
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 18.3% 13/71
Delayed puberty 5.6% 4/71
Hashimoto thyroiditis 2.8% 2/71
Hypothyroidism 2.8% 2/71
Premature ovarian failure 2.8% 2/71
Abnormality of thyroid physiology 1.4% 1/71
Central hypothyroidism 1.4% 1/71
Compensated hypothyroidism 1.4% 1/71
Growth hormone deficiency 1.4% 1/71
Type II diabetes mellitus 1.4% 1/71
Abnormality of the metabolic system 2.6% 2/77
Abnormal levels of alpha-fetoprotein 1.3% 1/77
Hypothyroidism 1.3% 1/77
Abnormality of the immune system 17.7% 14/79
Recurrent respiratory infections 5.1% 4/79
Recurrent infections 5.1% 4/79
Abnormal bleeding 1.3% 1/79
Allergy 1.3% 1/79
Allergic rhinitis 1.3% 1/79
Aplastic anemia 1.3% 1/79
IgA deficiency 1.3% 1/79
IgM deficiency 1.3% 1/79
Immunoglobulin IgG2 deficiency 1.3% 1/79
Nasogastric tube feeding in infancy 1.3% 1/79
Neonatal asphyxia 1.3% 1/79
Partial IgA deficiency 1.3% 1/79
Platelet antibody positive 1.3% 1/79
Recurrent bacterial infections 1.3% 1/79
Recurrent infections of the middle ear 1.3% 1/79
Recurrent otitis media 1.3% 1/79
Respiratory infections in early life 1.3% 1/79
Thrombocytopenia 1.3% 1/79
Neoplasia    
Neoplasia 6.8% 7/103
Hepatoblastoma 2.9% 3/103
Cholesteatoma 1.9% 2/103
Acute lymphoblastic leukemia 1.0% 1/103
Neuroblastoma 1.0% 1/103