KANSL1

Graph and Chart

Patient Overview : 163

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 43.0% 80/186
Female 57.0% 106/186
Indifferent 0% 0/186
Unknown 0% 0/186
General    
Birth Length abnormalities 5.7% 9/157
> P98 : Birth length greater than 97th percentile 0.6% 1/157
< P3 : Birth length less than 3rd percentile 5.1% 8/157
Birth Weight abnormalities 15.2% 27/178
< P3 : Small for gestational age 15.2% 27/178
Birth Head circumference abnormalities 2.5% 4/158
> P98 : Macrocephaly at birth 1.9% 3/158
< P3 : Congenital microcephaly 0.6% 1/158
Current Height abnormalities 18.4% 33/179
< P3 : Short stature 17.9% 32/179
> P98 : Tall stature 0.6% 1/179
Current Weight abnormalities 8.7% 15/173
< P3 : Decreased body weight 8.1% 14/173
> P98 : Increased body weight 0.6% 1/173
Current Head circumference abnormalities 8.9% 16/180
> P98 : Macrocephaly 6.1% 11/180
< P3 : Microcephaly 2.8% 5/180
Neurology    
Neurological abnormalities 92.9% 158/170
Generalized hypotonia 67.6% 115/170
Seizures 35.9% 61/170
EEG abnormality 20.6% 35/170
Neonatal hypotonia 4.7% 8/170
Generalized tonic-clonic seizures 3.5% 6/170
Speech apraxia 2.9% 5/170
Febrile seizures 2.4% 4/170
Absence seizures 1.8% 3/170
Dysarthria 1.8% 3/170
Global developmental delay 1.8% 3/170
Status epilepticus 1.8% 3/170
Delayed speech and language development 1.2% 2/170
Focal seizures 1.2% 2/170
Impaired pain sensation 1.2% 2/170
Unsteady gait 1.2% 2/170
Abnormality of the periventricular white matter 0.6% 1/170
Ankle clonus 0.6% 1/170
Apraxia 0.6% 1/170
Ataxia 0.6% 1/170
Atonic seizures 0.6% 1/170
Broad-based gait 0.6% 1/170
Communicating hydrocephalus 0.6% 1/170
Dysmetria 0.6% 1/170
EEG with focal sharp slow waves 0.6% 1/170
EEG with generalized epileptiform discharges 0.6% 1/170
Epileptiform EEG discharges 0.6% 1/170
Epileptic spasms 0.6% 1/170
Gait ataxia 0.6% 1/170
Generalized muscle weakness 0.6% 1/170
Generalized clonic seizures 0.6% 1/170
Hemiclonic seizures 0.6% 1/170
Hemiparesis 0.6% 1/170
Hypertonia 0.6% 1/170
Hypsarrhythmia 0.6% 1/170
Impaired visuospatial constructive cognition 0.6% 1/170
Inability to walk 0.6% 1/170
Infantile muscular hypotonia 0.6% 1/170
Infantile spasms 0.6% 1/170
Limb apraxia 0.6% 1/170
Lower limb hyperreflexia 0.6% 1/170
Medulloblastoma 0.6% 1/170
Moderate global developmental delay 0.6% 1/170
Muscle weakness 0.6% 1/170
Neurological speech impairment 0.6% 1/170
Oromotor apraxia 0.6% 1/170
Severe muscular hypotonia 0.6% 1/170
Simple febrile seizures 0.6% 1/170
Tetraplegia 0.6% 1/170
Behavioral problems 88.8% 142/160
Overfriendliness 48.8% 78/160
Anxiety 10.6% 17/160
Global developmental delay 10.6% 17/160
Abnormal social behavior 8.1% 13/160
Attention deficit hyperactivity disorder 8.1% 13/160
Short attention span 6.3% 10/160
Autistic behavior 5.0% 8/160
Hyperactivity 5.0% 8/160
Poor eye contact 5.0% 8/160
Behavioral abnormality 4.4% 7/160
Impaired social interactions 2.5% 4/160
Obsessive-compulsive behavior 2.5% 4/160
Stereotypic behavior 2.5% 4/160
Impulsivity 1.9% 3/160
Inflexible adherence to routines or rituals 1.9% 3/160
Aggressive behavior 1.3% 2/160
Oppositional defiant disorder 1.3% 2/160
Perseveration 1.3% 2/160
Shyness 1.3% 2/160
Sleep disturbance 1.3% 2/160
Agitation 0.6% 1/160
Delayed social development 0.6% 1/160
Depression 0.6% 1/160
Eye poking 0.6% 1/160
Insomnia 0.6% 1/160
Irritability 0.6% 1/160
Phonophobia 0.6% 1/160
Polydipsia 0.6% 1/160
Polyphagia 0.6% 1/160
Psychosis 0.6% 1/160
Seizures 0.6% 1/160
Self-biting 0.6% 1/160
Brain abnormality 61.4% 70/114
Ventriculomegaly 15.8% 18/114
Aplasia/Hypoplasia of the corpus callosum 7.0% 8/114
Abnormality of the cerebral ventricles 5.3% 6/114
Hydrocephalus 5.3% 6/114
Hypoplasia of the corpus callosum 5.3% 6/114
Agenesis of corpus callosum 4.4% 5/114
EEG abnormality 4.4% 5/114
Dilation of lateral ventricles 3.5% 4/114
Delayed CNS myelination 2.6% 3/114
Perivascular spaces 2.6% 3/114
Abnormality of the cerebral white matter 1.8% 2/114
Abnormality of lateral ventricle 1.8% 2/114
Abnormality of the corpus callosum 1.8% 2/114
Arnold-Chiari type I malformation 1.8% 2/114
Cerebral white matter atrophy 1.8% 2/114
Cerebral atrophy 1.8% 2/114
Choroid plexus cyst 1.8% 2/114
Dysplastic corpus callosum 1.8% 2/114
Heterotopia 1.8% 2/114
Abnormality of the periventricular white matter 0.9% 1/114
Abnormality of neuronal migration 0.9% 1/114
Abnormality of brain morphology 0.9% 1/114
Abnormality of the posterior cranial fossa 0.9% 1/114
Abnormality of the pituitary gland 0.9% 1/114
Abnormality of the posterior pituitary 0.9% 1/114
Abnormality of the septum pellucidum 0.9% 1/114
Anterior pituitary hypoplasia 0.9% 1/114
Cerebral hemorrhage 0.9% 1/114
Cerebellar hypoplasia 0.9% 1/114
Cervical cord compression 0.9% 1/114
Colpocephaly 0.9% 1/114
Communicating hydrocephalus 0.9% 1/114
Cortical dysplasia 0.9% 1/114
Cranial nerve VI palsy 0.9% 1/114
Dolichocephaly 0.9% 1/114
Dural ectasia 0.9% 1/114
Enlarged cisterna magna 0.9% 1/114
Generalized cerebral atrophy/hypoplasia 0.9% 1/114
Gliosis 0.9% 1/114
Gray matter heterotopias 0.9% 1/114
Hydromyelia 0.9% 1/114
Intraventricular hemorrhage 0.9% 1/114
Limbic malformations 0.9% 1/114
Macrocephaly 0.9% 1/114
Medulloblastoma 0.9% 1/114
Partial agenesis of the corpus callosum 0.9% 1/114
Periventricular white matter hypodensities 0.9% 1/114
Pineal cyst 0.9% 1/114
Spina bifida 0.9% 1/114
Syringomyelia 0.9% 1/114
Tethered cord 0.9% 1/114
Widened subarachnoid space 0.9% 1/114
Facial abnormalities    
Abnormality of the ear 66.4% 85/128
Macrotia 31.3% 40/128
Protruding ear 28.9% 37/128
Low-set ears 25.0% 32/128
Anteverted ears 4.7% 6/128
Low-set, posteriorly rotated ears 4.7% 6/128
Microtia 3.9% 5/128
Cupped ear 3.1% 4/128
Overfolded helix 2.3% 3/128
Large earlobe 1.6% 2/128
Preauricular pit 1.6% 2/128
Small earlobe 1.6% 2/128
Underdeveloped crus of the helix 1.6% 2/128
Abnormality of the helix 0.8% 1/128
Abnormality of the pinna 0.8% 1/128
Abnormality of earlobe 0.8% 1/128
Abnormally folded helix 0.8% 1/128
Darwin tubercle of helix 0.8% 1/128
Hypoplasia of the ear cartilage 0.8% 1/128
Overfolding of the superior helices 0.8% 1/128
Posteriorly rotated ears 0.8% 1/128
Prominent ear helix 0.8% 1/128
Round ear 0.8% 1/128
Stenosis of the external auditory canal 0.8% 1/128
Thickened ears 0.8% 1/128
Thickened helices 0.8% 1/128
Underdeveloped superior crus of antihelix 0.8% 1/128
Abnormality of the eye 91.2% 124/136
Upslanted palpebral fissure 52.9% 72/136
Epicanthus 41.2% 56/136
Ptosis 27.9% 38/136
Blepharophimosis 24.3% 33/136
Hypertelorism 14.0% 19/136
Iris hypopigmentation 11.8% 16/136
Prominent epicanthal folds 5.9% 8/136
Sparse eyebrow 4.4% 6/136
Strabismus 4.4% 6/136
Deeply set eye 3.7% 5/136
Astigmatism 2.2% 3/136
Short palpebral fissure 2.2% 3/136
Hypermetropia 1.5% 2/136
Small palpebral fissure 1.5% 2/136
Telecanthus 1.5% 2/136
Abnormality of the lens 0.7% 1/136
Almond-shaped palpebral fissure 0.7% 1/136
Downslanted palpebral fissures 0.7% 1/136
Epicanthus inversus 0.7% 1/136
Esotropia 0.7% 1/136
Exotropia 0.7% 1/136
Facial hemangioma 0.7% 1/136
Heterochromia iridis 0.7% 1/136
Infra-orbital crease 0.7% 1/136
Lacrimal duct stenosis 0.7% 1/136
Nystagmus 0.7% 1/136
Periorbital fullness 0.7% 1/136
Severe Myopia 0.7% 1/136
Thick eyebrow 0.7% 1/136
Abnormality of the nose 91.5% 119/130
Bulbous nose 63.8% 83/130
Pear-shaped nose 60.0% 78/130
Prominent nasal bridge 6.9% 9/130
Broad nasal tip 4.6% 6/130
Underdeveloped nasal alae 4.6% 6/130
Wide nose 4.6% 6/130
Low hanging columella 3.8% 5/130
Prominent nasal tip 3.8% 5/130
Depressed nasal bridge 3.1% 4/130
Wide nasal base 3.1% 4/130
Wide nasal bridge 3.1% 4/130
Anteverted nares 2.3% 3/130
Long nose 2.3% 3/130
Prominent nose 2.3% 3/130
Thick nasal alae 2.3% 3/130
Broad columella 1.5% 2/130
Cleft ala nasi 1.5% 2/130
Abnormality of the nasal bridge 0.8% 1/130
Abnormality of the external nose 0.8% 1/130
Abnormality of the columella 0.8% 1/130
Hypoplastic nasal septum 0.8% 1/130
Narrow nose 0.8% 1/130
Nasal obstruction 0.8% 1/130
Short nose 0.8% 1/130
Abnormality of the mouth 88.7% 149/168
Everted lower lip vermilion 23.8% 40/168
Drooling 18.5% 31/168
High, narrow palate 12.5% 21/168
Chewing difficulties 11.9% 20/168
Open mouth 10.7% 18/168
Long philtrum 10.1% 17/168
High palate 9.5% 16/168
Broad chin 7.7% 13/168
Macroglossia 7.1% 12/168
Deep philtrum 6.5% 11/168
Protruding tongue 5.4% 9/168
Reduced number of teeth 5.4% 9/168
Thin upper lip vermilion 5.4% 9/168
Widely spaced teeth 4.8% 8/168
Microdontia 4.2% 7/168
Cleft palate 3.6% 6/168
Short philtrum 3.6% 6/168
Tented upper lip vermilion 3.0% 5/168
Thick lower lip vermilion 3.0% 5/168
Wide mouth 3.0% 5/168
Thick vermilion border 2.4% 4/168
Ankyloglossia 1.8% 3/168
Carious teeth 1.8% 3/168
Conical tooth 1.8% 3/168
Dental malocclusion 1.8% 3/168
Mandibular prognathia 1.8% 3/168
Oral cleft 1.8% 3/168
Smooth philtrum 1.8% 3/168
Bilateral cleft lip and palate 1.2% 2/168
Broad philtrum 1.2% 2/168
Diastema 1.2% 2/168
Downturned corners of mouth 1.2% 2/168
Gingival overgrowth 1.2% 2/168
Hypodontia 1.2% 2/168
Hypoplasia of dental enamel 1.2% 2/168
Micrognathia 1.2% 2/168
Retrognathia 1.2% 2/168
Thick upper lip vermilion 1.2% 2/168
Unilateral cleft lip 1.2% 2/168
Abnormality of the tongue 0.6% 1/168
Abnormal number of incisors 0.6% 1/168
Abnormality of the palate 0.6% 1/168
Abnormality of oral frenula 0.6% 1/168
Abnormality of the gingiva 0.6% 1/168
Abnormality of the lip 0.6% 1/168
Agenesis of lateral incisor 0.6% 1/168
Agenesis of maxillary incisor 0.6% 1/168
Agenesis of permanent teeth 0.6% 1/168
Agenesis of premolar 0.6% 1/168
Anterior open-bite malocclusion 0.6% 1/168
Bilateral cleft lip 0.6% 1/168
Cleft upper lip 0.6% 1/168
Conical maxillary incisor 0.6% 1/168
Conical incisor 0.6% 1/168
Everted upper lip vermilion 0.6% 1/168
Exaggerated median tongue furrow 0.6% 1/168
Overbite 0.6% 1/168
Thin vermilion border 0.6% 1/168
Unilateral cleft palate 0.6% 1/168
Widely-spaced maxillary central incisors 0.6% 1/168
Visual and hearing impairments    
Abnormal hearing 20.9% 27/129
Hearing impairment 10.1% 13/129
Conductive hearing impairment 2.3% 3/129
Mild conductive hearing impairment 0.8% 1/129
Mild hearing impairment 0.8% 1/129
Moderate sensorineural hearing impairment 0.8% 1/129
Unilateral conductive hearing impairment 0.8% 1/129
Abnormal vision 55.6% 89/160
Hypermetropia 19.4% 31/160
Strabismus 18.1% 29/160
Visual impairment 8.8% 14/160
Cataract 2.5% 4/160
Esotropia 1.9% 3/160
Myopia 1.9% 3/160
Cortical visual impairment 1.3% 2/160
Exotropia 1.3% 2/160
Nystagmus 1.3% 2/160
Optic disc pallor 1.3% 2/160
Abnormal amplitude of dark-adapted bright flash electroretinogram 0.6% 1/160
Abnormal iris pigmentation 0.6% 1/160
Abnormality of visual evoked potentials 0.6% 1/160
Abnormal amplitude of dark-adapted dim flash electroretinogram 0.6% 1/160
Abnormality of the optic disc 0.6% 1/160
Abnormality of macular pigmentation 0.6% 1/160
Abnormality of the vasculature of the eye 0.6% 1/160
Alternating esotropia 0.6% 1/160
Amblyopia 0.6% 1/160
Astigmatism 0.6% 1/160
Attenuation of retinal blood vessels 0.6% 1/160
Bone spicule pigmentation of the retina 0.6% 1/160
Brushfield spots 0.6% 1/160
Chorioretinal coloboma 0.6% 1/160
Congenital cataract 0.6% 1/160
Macular dystrophy 0.6% 1/160
Macular scarring 0.6% 1/160
Optic atrophy 0.6% 1/160
Vitreous floaters 0.6% 1/160
Heart    
Abnormality of the heart 37.8% 56/148
Atria septal defect 10.8% 16/148
Ventricular septal defect 6.8% 10/148
Abnormality of the atrial septum 2.7% 4/148
Bicuspid aortic valve 2.7% 4/148
Patent foramen ovale 2.7% 4/148
Abnormality of the ventricular septum 2.0% 3/148
Aortic dilatation 2.0% 3/148
Mitral regurgitation 2.0% 3/148
Secundum atrial septal defect 2.0% 3/148
Tricuspid regurgitation 2.0% 3/148
Abnormality of the cardiovascular system 1.4% 2/148
Cardiomyopathy 1.4% 2/148
Heart murmur 1.4% 2/148
Muscular ventricular septal defect 1.4% 2/148
Patent ductus arteriosus 1.4% 2/148
Abnormality of the systemic arterial tree 0.7% 1/148
Abnormality of the pulmonary veins 0.7% 1/148
Abnormality of the aortic valve 0.7% 1/148
Abnormality of the left ventricle 0.7% 1/148
Abnormality of the mitral valve 0.7% 1/148
Aortic valve stenosis 0.7% 1/148
Cyanosis 0.7% 1/148
Dysplastic pulmonary valve 0.7% 1/148
Dysplastic aortic valve 0.7% 1/148
Hypertension 0.7% 1/148
Mitral valve prolapse 0.7% 1/148
Prolonged QT interval 0.7% 1/148
Right ventricular dilatation 0.7% 1/148
Right atrial enlargement 0.7% 1/148
Tachypnea 0.7% 1/148
Ventricular aneurysm 0.7% 1/148
Pulmonary    
Abnormality of the lungs 30.0% 3/10
Asthma 10.0% 1/10
Pulmonic stenosis 10.0% 1/10
Respiratory infections in early life 10.0% 1/10
Gastrointestinal    
Gastrointestinal abnormalities 68.8% 95/138
Feeding difficulties 48.6% 67/138
Gastroesophageal reflux 9.4% 13/138
Tracheomalacia 7.2% 10/138
Poor suck 5.8% 8/138
Constipation 3.6% 5/138
Feeding difficulties in infancy 3.6% 5/138
Inguinal hernia 3.6% 5/138
Umbilical hernia 2.2% 3/138
Chronic constipation 1.4% 2/138
Dysphagia 1.4% 2/138
Anal fistula 0.7% 1/138
Chewing difficulties 0.7% 1/138
Drooling 0.7% 1/138
Elevated hepatic transaminases 0.7% 1/138
Episodic vomiting 0.7% 1/138
Intestinal malrotation 0.7% 1/138
Laryngomalacia 0.7% 1/138
Pyloric stenosis 0.7% 1/138
Respiratory infections in early life 0.7% 1/138
Urogenital    
Abnormality of the urogenital system 49.7% 71/143
Cryptorchidism 12.6% 18/143
Hydronephrosis 9.1% 13/143
Vesicoureteral reflux 7.0% 10/143
Bilateral cryptorchidism 5.6% 8/143
Fetal pyelectasis 2.8% 4/143
Renal duplication 2.8% 4/143
Micropenis 2.1% 3/143
Dilatation of the renal pelvis 1.4% 2/143
Scrotal hypoplasia 1.4% 2/143
Ureteropelvic junction obstruction 1.4% 2/143
Abnormality of the bladder 0.7% 1/143
Abnormality of the kidney 0.7% 1/143
Enuresis nocturna 0.7% 1/143
Enuresis diurna 0.7% 1/143
Hypospadias 0.7% 1/143
Macroorchidism 0.7% 1/143
Multicystic kidney dysplasia 0.7% 1/143
Phimosis 0.7% 1/143
Polyuria 0.7% 1/143
Pyelonephritis 0.7% 1/143
Recurrent urinary tract infections 0.7% 1/143
Renal insufficiency 0.7% 1/143
Retractile testis 0.7% 1/143
Scrotal hypospadias 0.7% 1/143
Shawl scrotum 0.7% 1/143
Unilateral cryptorchidism 0.7% 1/143
Ureterocele 0.7% 1/143
Urinary incontinence 0.7% 1/143
Skeleton    
Skeletal abnormalities 83.1% 123/148
Joint laxity 31.8% 47/148
Pes planus 16.2% 24/148
Arachnodactyly 14.9% 22/148
Scoliosis 11.5% 17/148
Slender build 9.5% 14/148
Abnormality of the curvature of the vertebral column 7.4% 11/148
Narrow palm 7.4% 11/148
Hip dysplasia 6.8% 10/148
Pectus excavatum 6.8% 10/148
Joint hypermobility 6.1% 9/148
Positional foot deformity 5.4% 8/148
Abnormality of the musculature of the hand 4.7% 7/148
Hip dislocation 4.1% 6/148
Kyphosis 4.1% 6/148
Long fingers 4.1% 6/148
Abnormality of the hip joint 3.4% 5/148
Lower limb asymmetry 3.4% 5/148
Pes cavus 3.4% 5/148
Shield chest 3.4% 5/148
Abnormality of the sternum 2.7% 4/148
Broad thumb 2.7% 4/148
Hallux valgus 2.7% 4/148
Abnormality of the lower limb 2.0% 3/148
Clinodactyly of the 5th finger 2.0% 3/148
Dolichocephaly 2.0% 3/148
Genu valgum 2.0% 3/148
Short neck 2.0% 3/148
Slender finger 2.0% 3/148
Talipes equinovarus 2.0% 3/148
Bilateral talipes equinovarus 1.4% 2/148
Broad hallux 1.4% 2/148
Calcaneovalgus deformity 1.4% 2/148
Cervical spinal canal stenosis 1.4% 2/148
Clinodactyly 1.4% 2/148
Cubitus valgus 1.4% 2/148
Deviation of toes 1.4% 2/148
Generalized joint laxity 1.4% 2/148
Large hands 1.4% 2/148
Long foot 1.4% 2/148
Long toe 1.4% 2/148
Multiple joint dislocation 1.4% 2/148
Pectus carinatum 1.4% 2/148
Spondylolisthesis 1.4% 2/148
Thoracolumbar scoliosis 1.4% 2/148
Thoracic scoliosis 1.4% 2/148
Valgus foot deformity 1.4% 2/148
Abnormality of toe 0.7% 1/148
Abnormality of the thorax 0.7% 1/148
Abnormality of the acetabulum 0.7% 1/148
Abnormal number of vertebrae 0.7% 1/148
Ankle contracture 0.7% 1/148
Arthropathy 0.7% 1/148
Asymmetry of the thorax 0.7% 1/148
Bifid distal phalanx of the thumb 0.7% 1/148
Bilateral wrist flexion contracture 0.7% 1/148
Brachycephaly 0.7% 1/148
Broad neck 0.7% 1/148
Camptodactyly 0.7% 1/148
Clubbing of toes 0.7% 1/148
Congenital hip dislocation 0.7% 1/148
Congenital bilateral hip dislocation 0.7% 1/148
Coxa valga 0.7% 1/148
Decreased muscle mass 0.7% 1/148
Delayed skeletal maturation 0.7% 1/148
Delayed tarsal ossification 0.7% 1/148
Digital flexor tenosynovitis 0.7% 1/148
Disproportionate tall stature 0.7% 1/148
Elbow flexion contracture 0.7% 1/148
Finger joint hypermobility 0.7% 1/148
Fused lumbar vertebrae 0.7% 1/148
Fused cervical vertebrae 0.7% 1/148
Fused thoracic vertebrae 0.7% 1/148
Hammertoe 0.7% 1/148
Hemivertebrae 0.7% 1/148
Herniation of intervertebral nuclei 0.7% 1/148
Hip Subluxation 0.7% 1/148
Hyperlordosis 0.7% 1/148
Hyperextensibility at wrists 0.7% 1/148
Increased laxity of fingers 0.7% 1/148
Joint hyperflexibility 0.7% 1/148
Juvenile rheumatoid arthritis 0.7% 1/148
Knee dislocation 0.7% 1/148
Knee flexion contracture 0.7% 1/148
Limb joint contracture 0.7% 1/148
Limb undergrowth 0.7% 1/148
Long palm 0.7% 1/148
Long thorax 0.7% 1/148
Lumbar scoliosis 0.7% 1/148
Lumbar hyperlordosis 0.7% 1/148
Mandibular prognathia 0.7% 1/148
Metopic synostosis 0.7% 1/148
Narrow chest 0.7% 1/148
Narrow foot 0.7% 1/148
Overlapping toe 0.7% 1/148
Prominent fingertip pads 0.7% 1/148
Prominent metopic ridge 0.7% 1/148
Proximal placement of hallux 0.7% 1/148
Recurrent fractures 0.7% 1/148
Sagittal craniosynostosis 0.7% 1/148
Sandal gap 0.7% 1/148
Scapular winging 0.7% 1/148
Short femur 0.7% 1/148
Short distal phalanx of finger 0.7% 1/148
Short middle phalanx of finger 0.7% 1/148
Short toe 0.7% 1/148
Shoulder dislocation 0.7% 1/148
Talipes valgus 0.7% 1/148
Thoracic kyphosis 0.7% 1/148
Trigonocephaly 0.7% 1/148
Ulnar deviation of the wrist 0.7% 1/148
Widened distal phalanges 0.7% 1/148
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 79.1% 121/153
Nevus 11.1% 17/153
Wide intermamillary distance 7.2% 11/153
Dry skin 6.5% 10/153
Fair hair 6.5% 10/153
Sacral dimple 6.5% 10/153
Dental malocclusion 5.2% 8/153
Hypopigmentation of the skin 5.2% 8/153
Thick hair 5.2% 8/153
Cafe-au-lait spot 4.6% 7/153
Fine hair 4.6% 7/153
Soft skin 4.6% 7/153
Abnormality of hair pigmentation 3.9% 6/153
Eczema 3.9% 6/153
Hypodontia 3.9% 6/153
Sparse hair 3.3% 5/153
Abnormality of the hair 2.6% 4/153
Abnormality of skin pigmentation 2.6% 4/153
Dry hair 2.6% 4/153
Hyperextensible skin 2.6% 4/153
Single transverse palmar crease 2.6% 4/153
Acne 2.0% 3/153
Brittle hair 2.0% 3/153
Coarse hair 2.0% 3/153
Curly hair 2.0% 3/153
Vitiligo 2.0% 3/153
Abnormality of the nipple 1.3% 2/153
Abnormality of hair texture 1.3% 2/153
Bilateral single transverse palmar creases 1.3% 2/153
Hyperkeratosis 1.3% 2/153
Hyperpigmentation of the skin 1.3% 2/153
Hyperpigmented nevi 1.3% 2/153
Ichthyosis 1.3% 2/153
Inverted nipples 1.3% 2/153
Low anterior hairline 1.3% 2/153
Multiple cafe-au-lait spots 1.3% 2/153
Numerous nevi 1.3% 2/153
Shoulder dimples 1.3% 2/153
Silver-gray hair 1.3% 2/153
Abnormally lax or hyperextensible skin 0.7% 1/153
Abnormality of the nail 0.7% 1/153
Abnormal elasticity of skin 0.7% 1/153
Abnormality of hair growth 0.7% 1/153
Alopecia 0.7% 1/153
Aplasia cutis congenita of scalp 0.7% 1/153
Aplasia cutis congenita over the scalp vertex 0.7% 1/153
Atrophic scars 0.7% 1/153
Atrophic, patchy alopecia 0.7% 1/153
Bifid nail 0.7% 1/153
Bruising susceptibility 0.7% 1/153
Cutis laxa 0.7% 1/153
Cyanosis 0.7% 1/153
Deep palmar crease 0.7% 1/153
Fragile nails 0.7% 1/153
Hyperkeratosis pilaris 0.7% 1/153
Hypohidrosis 0.7% 1/153
Hypopigmented skin patches 0.7% 1/153
Localized hirsutism 0.7% 1/153
Melanocytic nevus 0.7% 1/153
Milia 0.7% 1/153
Multiple palmar creases 0.7% 1/153
Nail dystrophy 0.7% 1/153
Skin dimples 0.7% 1/153
Soft, doughy skin 0.7% 1/153
Sparse anterior scalp hair 0.7% 1/153
Uncombable hair 0.7% 1/153
Webbed neck 0.7% 1/153
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 8.8% 10/113
Growth hormone deficiency 3.5% 4/113
Gonadotropin deficiency 0.9% 1/113
Hyperthyroidism 0.9% 1/113
Hypothyroidism 0.9% 1/113
Precocious puberty 0.9% 1/113
Primary adrenal insufficiency 0.9% 1/113
Abnormality of the metabolic system 7.2% 8/111
Neonatal hypoglycemia 1.8% 2/111
Neonatal hyperbilirubinemia 1.8% 2/111
Abnormality of circulating enzyme level 0.9% 1/111
Anemia 0.9% 1/111
Decreased activity of mitochondrial complex I 0.9% 1/111
Hypoglycemia 0.9% 1/111
Abnormality of the immune system 39.5% 47/119
Recurrent otitis media 5.9% 7/119
Recurrent urinary tract infections 4.2% 5/119
Recurrent respiratory infections 4.2% 5/119
Asthma 3.4% 4/119
Recurrent upper respiratory tract infections 3.4% 4/119
Recurrent infections 3.4% 4/119
Neutropenia 2.5% 3/119
Recurrent pneumonia 2.5% 3/119
Recurrent infections of the middle ear 2.5% 3/119
Chronic otitis media 1.7% 2/119
Recurrent bronchitis 1.7% 2/119
Aspiration pneumonia 0.8% 1/119
Bronchitis 0.8% 1/119
Bruising susceptibility 0.8% 1/119
Celiac disease 0.8% 1/119
Easy fatigability 0.8% 1/119
Recurrent cystitis 0.8% 1/119
Sepsis 0.8% 1/119
Neoplasia    
Neoplasia 8.9% 10/112
Hemangioma 2.7% 3/112
Gait disturbance 0.9% 1/112
Gait ataxia 0.9% 1/112
Medulloblastoma 0.9% 1/112
Melanoma 0.9% 1/112
Testicular neoplasm 0.9% 1/112
Verrucae 0.9% 1/112