KANSL1

Graph and Chart

Patient Overview : 150

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 42.2% 73/173
Female 57.8% 100/173
Indifferent 0% 0/173
Unknown 0% 0/173
General    
Birth Length abnormalities 5.6% 8/144
> P98 : Birth length greater than 97th percentile 0.7% 1/144
< P3 : Birth length less than 3rd percentile 4.9% 7/144
Birth Weight abnormalities 13.3% 22/165
< P3 : Small for gestational age 13.3% 22/165
Birth Head circumference abnormalities 2.1% 3/145
> P98 : Macrocephaly at birth 2.1% 3/145
Current Height abnormalities 16.3% 27/166
< P3 : Short stature 15.7% 26/166
> P98 : Tall stature 0.6% 1/166
Current Weight abnormalities 8.8% 14/160
< P3 : Decreased body weight 8.1% 13/160
> P98 : Increased body weight 0.6% 1/160
Current Head circumference abnormalities 8.4% 14/167
> P98 : Macrocephaly 6.0% 10/167
< P3 : Microcephaly 2.4% 4/167
Neurology    
Neurological abnormalities 93.0% 147/158
Generalized hypotonia 72.2% 114/158
Seizures 35.4% 56/158
EEG abnormality 22.2% 35/158
Generalized tonic-clonic seizures 3.2% 5/158
Speech apraxia 3.2% 5/158
Febrile seizures 2.5% 4/158
Absence seizures 1.9% 3/158
Dysarthria 1.9% 3/158
Global developmental delay 1.9% 3/158
Neonatal hypotonia 1.9% 3/158
Status epilepticus 1.9% 3/158
Delayed speech and language development 1.3% 2/158
Focal seizures 1.3% 2/158
Impaired pain sensation 1.3% 2/158
Unsteady gait 1.3% 2/158
Abnormality of the periventricular white matter 0.6% 1/158
Ankle clonus 0.6% 1/158
Apraxia 0.6% 1/158
Ataxia 0.6% 1/158
Atonic seizures 0.6% 1/158
Broad-based gait 0.6% 1/158
Communicating hydrocephalus 0.6% 1/158
Dysmetria 0.6% 1/158
EEG with focal sharp slow waves 0.6% 1/158
EEG with generalized epileptiform discharges 0.6% 1/158
Epileptiform EEG discharges 0.6% 1/158
Epileptic spasms 0.6% 1/158
Gait ataxia 0.6% 1/158
Generalized muscle weakness 0.6% 1/158
Generalized clonic seizures 0.6% 1/158
Hemiclonic seizures 0.6% 1/158
Hemiparesis 0.6% 1/158
Hypertonia 0.6% 1/158
Hypsarrhythmia 0.6% 1/158
Impaired visuospatial constructive cognition 0.6% 1/158
Inability to walk 0.6% 1/158
Infantile spasms 0.6% 1/158
Infantile muscular hypotonia 0.6% 1/158
Limb apraxia 0.6% 1/158
Lower limb hyperreflexia 0.6% 1/158
Medulloblastoma 0.6% 1/158
Moderate global developmental delay 0.6% 1/158
Muscle weakness 0.6% 1/158
Oromotor apraxia 0.6% 1/158
Severe muscular hypotonia 0.6% 1/158
Simple febrile seizures 0.6% 1/158
Tetraplegia 0.6% 1/158
Behavioral problems 88.4% 130/147
Overfriendliness 53.1% 78/147
Anxiety 9.5% 14/147
Abnormal social behavior 8.8% 13/147
Attention deficit hyperactivity disorder 8.8% 13/147
Global developmental delay 8.8% 13/147
Short attention span 6.1% 9/147
Autistic behavior 5.4% 8/147
Poor eye contact 4.8% 7/147
Hyperactivity 4.1% 6/147
Impaired social interactions 2.7% 4/147
Stereotypic behavior 2.7% 4/147
Impulsivity 2.0% 3/147
Inflexible adherence to routines or rituals 2.0% 3/147
Obsessive-compulsive behavior 2.0% 3/147
Aggressive behavior 1.4% 2/147
Behavioral abnormality 1.4% 2/147
Oppositional defiant disorder 1.4% 2/147
Perseveration 1.4% 2/147
Shyness 1.4% 2/147
Sleep disturbance 1.4% 2/147
Agitation 0.7% 1/147
Depression 0.7% 1/147
Eye poking 0.7% 1/147
Insomnia 0.7% 1/147
Irritability 0.7% 1/147
Phonophobia 0.7% 1/147
Polydipsia 0.7% 1/147
Psychosis 0.7% 1/147
Seizures 0.7% 1/147
Self-biting 0.7% 1/147
Brain abnormality 61.4% 62/101
Ventriculomegaly 17.8% 18/101
Aplasia/Hypoplasia of the corpus callosum 7.9% 8/101
Hydrocephalus 5.9% 6/101
Hypoplasia of the corpus callosum 5.9% 6/101
Agenesis of corpus callosum 4.0% 4/101
Dilation of lateral ventricles 4.0% 4/101
Delayed CNS myelination 3.0% 3/101
Perivascular spaces 3.0% 3/101
Abnormality of the cerebral ventricles 2.0% 2/101
Arnold-Chiari type I malformation 2.0% 2/101
Cerebral atrophy 2.0% 2/101
Cerebral white matter atrophy 2.0% 2/101
Choroid plexus cyst 2.0% 2/101
Dysplastic corpus callosum 2.0% 2/101
Abnormality of the corpus callosum 1.0% 1/101
Abnormality of the septum pellucidum 1.0% 1/101
Abnormality of the posterior cranial fossa 1.0% 1/101
Abnormality of the posterior pituitary 1.0% 1/101
Abnormality of lateral ventricle 1.0% 1/101
Abnormality of the periventricular white matter 1.0% 1/101
Abnormality of the cerebral white matter 1.0% 1/101
Abnormality of brain morphology 1.0% 1/101
Abnormality of the pituitary gland 1.0% 1/101
Abnormality of neuronal migration 1.0% 1/101
Anterior pituitary hypoplasia 1.0% 1/101
Cerebral hemorrhage 1.0% 1/101
Cerebellar hypoplasia 1.0% 1/101
Cervical cord compression 1.0% 1/101
Colpocephaly 1.0% 1/101
Communicating hydrocephalus 1.0% 1/101
Cranial nerve VI palsy 1.0% 1/101
Dolichocephaly 1.0% 1/101
Dural ectasia 1.0% 1/101
Enlarged cisterna magna 1.0% 1/101
Generalized cerebral atrophy/hypoplasia 1.0% 1/101
Gliosis 1.0% 1/101
Heterotopia 1.0% 1/101
Hydromyelia 1.0% 1/101
Intraventricular hemorrhage 1.0% 1/101
Macrocephaly 1.0% 1/101
Medulloblastoma 1.0% 1/101
Partial agenesis of the corpus callosum 1.0% 1/101
Periventricular white matter hypodensities 1.0% 1/101
Pineal cyst 1.0% 1/101
Spina bifida 1.0% 1/101
Syringomyelia 1.0% 1/101
Tethered cord 1.0% 1/101
Widened subarachnoid space 1.0% 1/101
Facial abnormalities    
Abnormality of the ear 63.5% 73/115
Protruding ear 31.3% 36/115
Macrotia 27.0% 31/115
Low-set ears 20.9% 24/115
Low-set, posteriorly rotated ears 5.2% 6/115
Microtia 4.3% 5/115
Cupped ear 3.5% 4/115
Preauricular pit 1.7% 2/115
Small earlobe 1.7% 2/115
Underdeveloped crus of the helix 1.7% 2/115
Abnormality of earlobe 0.9% 1/115
Abnormality of the pinna 0.9% 1/115
Abnormality of the helix 0.9% 1/115
Anteverted ears 0.9% 1/115
Darwin tubercle of helix 0.9% 1/115
Hypoplasia of the ear cartilage 0.9% 1/115
Large earlobe 0.9% 1/115
Overfolding of the superior helices 0.9% 1/115
Overfolded helix 0.9% 1/115
Posteriorly rotated ears 0.9% 1/115
Prominent ear helix 0.9% 1/115
Round ear 0.9% 1/115
Stenosis of the external auditory canal 0.9% 1/115
Thickened helices 0.9% 1/115
Thickened ears 0.9% 1/115
Underdeveloped superior crus of antihelix 0.9% 1/115
Abnormality of the eye 90.2% 111/123
Upslanted palpebral fissure 49.6% 61/123
Epicanthus 44.7% 55/123
Blepharophimosis 26.8% 33/123
Ptosis 25.2% 31/123
Hypertelorism 13.8% 17/123
Iris hypopigmentation 13.0% 16/123
Sparse eyebrow 4.9% 6/123
Deeply set eye 4.1% 5/123
Strabismus 4.1% 5/123
Astigmatism 2.4% 3/123
Hypermetropia 1.6% 2/123
Short palpebral fissure 1.6% 2/123
Telecanthus 1.6% 2/123
Abnormality of the lens 0.8% 1/123
Almond-shaped palpebral fissure 0.8% 1/123
Downslanted palpebral fissures 0.8% 1/123
Epicanthus inversus 0.8% 1/123
Esotropia 0.8% 1/123
Exotropia 0.8% 1/123
Facial hemangioma 0.8% 1/123
Infra-orbital crease 0.8% 1/123
Lacrimal duct stenosis 0.8% 1/123
Nystagmus 0.8% 1/123
Periorbital fullness 0.8% 1/123
Severe Myopia 0.8% 1/123
Small palpebral fissure 0.8% 1/123
Thick eyebrow 0.8% 1/123
Abnormality of the nose 90.6% 106/117
Bulbous nose 69.2% 81/117
Pear-shaped nose 65.0% 76/117
Underdeveloped nasal alae 5.1% 6/117
Low hanging columella 4.3% 5/117
Prominent nasal bridge 4.3% 5/117
Depressed nasal bridge 3.4% 4/117
Wide nasal base 3.4% 4/117
Anteverted nares 2.6% 3/117
Prominent nasal tip 2.6% 3/117
Thick nasal alae 2.6% 3/117
Broad columella 1.7% 2/117
Broad nasal tip 1.7% 2/117
Cleft ala nasi 1.7% 2/117
Prominent nose 1.7% 2/117
Wide nasal bridge 1.7% 2/117
Abnormality of the columella 0.9% 1/117
Abnormality of the external nose 0.9% 1/117
Long nose 0.9% 1/117
Narrow nose 0.9% 1/117
Short nose 0.9% 1/117
Wide nose 0.9% 1/117
Abnormality of the mouth 89.0% 138/155
Everted lower lip vermilion 25.2% 39/155
Drooling 20.0% 31/155
Chewing difficulties 12.9% 20/155
High, narrow palate 11.0% 17/155
Long philtrum 10.3% 16/155
High palate 9.7% 15/155
Open mouth 9.7% 15/155
Broad chin 8.4% 13/155
Macroglossia 7.7% 12/155
Deep philtrum 7.1% 11/155
Protruding tongue 5.8% 9/155
Reduced number of teeth 5.8% 9/155
Thin upper lip vermilion 4.5% 7/155
Cleft palate 3.9% 6/155
Microdontia 3.9% 6/155
Short philtrum 3.9% 6/155
Widely spaced teeth 3.9% 6/155
Tented upper lip vermilion 3.2% 5/155
Wide mouth 3.2% 5/155
Thick lower lip vermilion 2.6% 4/155
Thick vermilion border 2.6% 4/155
Ankyloglossia 1.9% 3/155
Conical tooth 1.9% 3/155
Mandibular prognathia 1.9% 3/155
Oral cleft 1.9% 3/155
Bilateral cleft lip and palate 1.3% 2/155
Broad philtrum 1.3% 2/155
Carious teeth 1.3% 2/155
Dental malocclusion 1.3% 2/155
Downturned corners of mouth 1.3% 2/155
Gingival overgrowth 1.3% 2/155
Hypoplasia of dental enamel 1.3% 2/155
Micrognathia 1.3% 2/155
Retrognathia 1.3% 2/155
Smooth philtrum 1.3% 2/155
Abnormal number of incisors 0.6% 1/155
Abnormality of the tongue 0.6% 1/155
Abnormality of the palate 0.6% 1/155
Abnormality of the lip 0.6% 1/155
Abnormality of oral frenula 0.6% 1/155
Abnormality of the gingiva 0.6% 1/155
Agenesis of maxillary incisor 0.6% 1/155
Agenesis of permanent teeth 0.6% 1/155
Agenesis of premolar 0.6% 1/155
Anterior open-bite malocclusion 0.6% 1/155
Bilateral cleft lip 0.6% 1/155
Cleft upper lip 0.6% 1/155
Conical incisor 0.6% 1/155
Conical maxillary incisor 0.6% 1/155
Diastema 0.6% 1/155
Everted upper lip vermilion 0.6% 1/155
Exaggerated median tongue furrow 0.6% 1/155
Hypodontia 0.6% 1/155
Overbite 0.6% 1/155
Thick upper lip vermilion 0.6% 1/155
Thin vermilion border 0.6% 1/155
Unilateral cleft lip 0.6% 1/155
Widely-spaced maxillary central incisors 0.6% 1/155
Visual and hearing impairments    
Abnormal hearing 20.0% 24/120
Hearing impairment 9.2% 11/120
Conductive hearing impairment 1.7% 2/120
Mild hearing impairment 0.8% 1/120
Mild conductive hearing impairment 0.8% 1/120
Moderate sensorineural hearing impairment 0.8% 1/120
Unilateral conductive hearing impairment 0.8% 1/120
Abnormal vision 54.4% 81/149
Hypermetropia 20.8% 31/149
Strabismus 18.1% 27/149
Visual impairment 9.4% 14/149
Esotropia 2.0% 3/149
Myopia 2.0% 3/149
Cortical visual impairment 1.3% 2/149
Exotropia 1.3% 2/149
Nystagmus 1.3% 2/149
Abnormal amplitude of dark-adapted bright flash electroretinogram 0.7% 1/149
Abnormality of macular pigmentation 0.7% 1/149
Abnormality of the optic disc 0.7% 1/149
Abnormal amplitude of dark-adapted dim flash electroretinogram 0.7% 1/149
Alternating esotropia 0.7% 1/149
Amblyopia 0.7% 1/149
Attenuation of retinal blood vessels 0.7% 1/149
Bone spicule pigmentation of the retina 0.7% 1/149
Cataract 0.7% 1/149
Chorioretinal coloboma 0.7% 1/149
Congenital cataract 0.7% 1/149
Macular scarring 0.7% 1/149
Macular dystrophy 0.7% 1/149
Optic atrophy 0.7% 1/149
Optic disc pallor 0.7% 1/149
Vitreous floaters 0.7% 1/149
Heart    
Abnormality of the heart 37.0% 50/135
Atria septal defect 11.1% 15/135
Ventricular septal defect 6.7% 9/135
Abnormality of the atrial septum 3.0% 4/135
Patent foramen ovale 3.0% 4/135
Abnormality of the ventricular septum 2.2% 3/135
Aortic dilatation 2.2% 3/135
Bicuspid aortic valve 2.2% 3/135
Mitral regurgitation 2.2% 3/135
Secundum atrial septal defect 2.2% 3/135
Tricuspid regurgitation 2.2% 3/135
Cardiomyopathy 1.5% 2/135
Heart murmur 1.5% 2/135
Muscular ventricular septal defect 1.5% 2/135
Patent ductus arteriosus 1.5% 2/135
Abnormality of the systemic arterial tree 0.7% 1/135
Abnormality of the pulmonary veins 0.7% 1/135
Dysplastic aortic valve 0.7% 1/135
Dysplastic pulmonary valve 0.7% 1/135
Hypertension 0.7% 1/135
Mitral valve prolapse 0.7% 1/135
Prolonged QT interval 0.7% 1/135
Right ventricular dilatation 0.7% 1/135
Right atrial enlargement 0.7% 1/135
Tachypnea 0.7% 1/135
Ventricular aneurysm 0.7% 1/135
Gastrointestinal    
Gastrointestinal abnormalities 70.1% 89/127
Feeding difficulties 52.0% 66/127
Gastroesophageal reflux 9.4% 12/127
Tracheomalacia 7.9% 10/127
Poor suck 6.3% 8/127
Constipation 3.9% 5/127
Inguinal hernia 3.9% 5/127
Umbilical hernia 2.4% 3/127
Chronic constipation 1.6% 2/127
Dysphagia 1.6% 2/127
Anal fistula 0.8% 1/127
Chewing difficulties 0.8% 1/127
Drooling 0.8% 1/127
Elevated hepatic transaminases 0.8% 1/127
Episodic vomiting 0.8% 1/127
Feeding difficulties in infancy 0.8% 1/127
Intestinal malrotation 0.8% 1/127
Laryngomalacia 0.8% 1/127
Pyloric stenosis 0.8% 1/127
Urogenital    
Abnormality of the urogenital system 49.6% 65/131
Cryptorchidism 12.2% 16/131
Hydronephrosis 9.2% 12/131
Vesicoureteral reflux 6.9% 9/131
Bilateral cryptorchidism 4.6% 6/131
Fetal pyelectasis 3.1% 4/131
Renal duplication 3.1% 4/131
Micropenis 2.3% 3/131
Dilatation of the renal pelvis 1.5% 2/131
Scrotal hypoplasia 1.5% 2/131
Ureteropelvic junction obstruction 1.5% 2/131
Abnormality of the bladder 0.8% 1/131
Enuresis nocturna 0.8% 1/131
Enuresis diurna 0.8% 1/131
Hypospadias 0.8% 1/131
Macroorchidism 0.8% 1/131
Multicystic kidney dysplasia 0.8% 1/131
Phimosis 0.8% 1/131
Polyuria 0.8% 1/131
Pyelonephritis 0.8% 1/131
Retractile testis 0.8% 1/131
Scrotal hypospadias 0.8% 1/131
Shawl scrotum 0.8% 1/131
Unilateral cryptorchidism 0.8% 1/131
Ureterocele 0.8% 1/131
Urinary incontinence 0.8% 1/131
Skeleton    
Skeletal abnormalities 81.6% 111/136
Joint laxity 33.8% 46/136
Pes planus 16.9% 23/136
Arachnodactyly 16.2% 22/136
Scoliosis 11.0% 15/136
Slender build 10.3% 14/136
Narrow palm 8.1% 11/136
Abnormality of the curvature of the vertebral column 7.4% 10/136
Hip dysplasia 7.4% 10/136
Pectus excavatum 7.4% 10/136
Abnormality of the musculature of the hand 5.1% 7/136
Positional foot deformity 5.1% 7/136
Abnormality of the hip joint 3.7% 5/136
Hip dislocation 3.7% 5/136
Lower limb asymmetry 3.7% 5/136
Pes cavus 3.7% 5/136
Shield chest 3.7% 5/136
Hallux valgus 2.9% 4/136
Joint hypermobility 2.9% 4/136
Kyphosis 2.9% 4/136
Broad thumb 2.2% 3/136
Dolichocephaly 2.2% 3/136
Genu valgum 2.2% 3/136
Short neck 2.2% 3/136
Talipes equinovarus 2.2% 3/136
Abnormality of the sternum 1.5% 2/136
Abnormality of the lower limb 1.5% 2/136
Bilateral talipes equinovarus 1.5% 2/136
Broad hallux 1.5% 2/136
Calcaneovalgus deformity 1.5% 2/136
Cervical spinal canal stenosis 1.5% 2/136
Clinodactyly of the 5th finger 1.5% 2/136
Clinodactyly 1.5% 2/136
Cubitus valgus 1.5% 2/136
Deviation of toes 1.5% 2/136
Generalized joint laxity 1.5% 2/136
Large hands 1.5% 2/136
Long fingers 1.5% 2/136
Long toe 1.5% 2/136
Long foot 1.5% 2/136
Multiple joint dislocation 1.5% 2/136
Spondylolisthesis 1.5% 2/136
Thoracic scoliosis 1.5% 2/136
Thoracolumbar scoliosis 1.5% 2/136
Abnormality of the thorax 0.7% 1/136
Abnormal number of vertebrae 0.7% 1/136
Abnormality of toe 0.7% 1/136
Ankle contracture 0.7% 1/136
Arthropathy 0.7% 1/136
Asymmetry of the thorax 0.7% 1/136
Bifid distal phalanx of the thumb 0.7% 1/136
Bilateral wrist flexion contracture 0.7% 1/136
Brachycephaly 0.7% 1/136
Broad neck 0.7% 1/136
Camptodactyly 0.7% 1/136
Clubbing of toes 0.7% 1/136
Congenital bilateral hip dislocation 0.7% 1/136
Congenital hip dislocation 0.7% 1/136
Decreased muscle mass 0.7% 1/136
Delayed skeletal maturation 0.7% 1/136
Delayed tarsal ossification 0.7% 1/136
Digital flexor tenosynovitis 0.7% 1/136
Disproportionate tall stature 0.7% 1/136
Elbow flexion contracture 0.7% 1/136
Finger joint hypermobility 0.7% 1/136
Fused cervical vertebrae 0.7% 1/136
Fused lumbar vertebrae 0.7% 1/136
Fused thoracic vertebrae 0.7% 1/136
Hammertoe 0.7% 1/136
Herniation of intervertebral nuclei 0.7% 1/136
Hip Subluxation 0.7% 1/136
Hyperextensibility at wrists 0.7% 1/136
Hyperlordosis 0.7% 1/136
Increased laxity of fingers 0.7% 1/136
Joint hyperflexibility 0.7% 1/136
Juvenile rheumatoid arthritis 0.7% 1/136
Knee flexion contracture 0.7% 1/136
Knee dislocation 0.7% 1/136
Limb joint contracture 0.7% 1/136
Limb undergrowth 0.7% 1/136
Long thorax 0.7% 1/136
Long palm 0.7% 1/136
Lumbar hyperlordosis 0.7% 1/136
Mandibular prognathia 0.7% 1/136
Metopic synostosis 0.7% 1/136
Narrow foot 0.7% 1/136
Narrow chest 0.7% 1/136
Overlapping toe 0.7% 1/136
Pectus carinatum 0.7% 1/136
Prominent metopic ridge 0.7% 1/136
Prominent fingertip pads 0.7% 1/136
Recurrent fractures 0.7% 1/136
Sagittal craniosynostosis 0.7% 1/136
Sandal gap 0.7% 1/136
Scapular winging 0.7% 1/136
Short femur 0.7% 1/136
Short middle phalanx of finger 0.7% 1/136
Short distal phalanx of finger 0.7% 1/136
Shoulder dislocation 0.7% 1/136
Slender finger 0.7% 1/136
Talipes valgus 0.7% 1/136
Trigonocephaly 0.7% 1/136
Ulnar deviation of the wrist 0.7% 1/136
Valgus foot deformity 0.7% 1/136
Widened distal phalanges 0.7% 1/136
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 78.6% 110/140
Nevus 10.7% 15/140
Fair hair 7.1% 10/140
Dental malocclusion 5.7% 8/140
Dry skin 5.7% 8/140
Sacral dimple 5.7% 8/140
Hypopigmentation of the skin 5.0% 7/140
Soft skin 5.0% 7/140
Thick hair 5.0% 7/140
Wide intermamillary distance 5.0% 7/140
Abnormality of hair pigmentation 4.3% 6/140
Eczema 4.3% 6/140
Fine hair 4.3% 6/140
Hypodontia 4.3% 6/140
Cafe-au-lait spot 3.6% 5/140
Sparse hair 3.6% 5/140
Abnormality of the hair 2.9% 4/140
Abnormality of skin pigmentation 2.9% 4/140
Hyperextensible skin 2.9% 4/140
Acne 2.1% 3/140
Brittle hair 2.1% 3/140
Curly hair 2.1% 3/140
Dry hair 2.1% 3/140
Single transverse palmar crease 2.1% 3/140
Vitiligo 2.1% 3/140
Abnormality of hair texture 1.4% 2/140
Bilateral single transverse palmar creases 1.4% 2/140
Coarse hair 1.4% 2/140
Hyperkeratosis 1.4% 2/140
Ichthyosis 1.4% 2/140
Inverted nipples 1.4% 2/140
Numerous nevi 1.4% 2/140
Shoulder dimples 1.4% 2/140
Silver-gray hair 1.4% 2/140
Abnormality of the nail 0.7% 1/140
Abnormality of hair growth 0.7% 1/140
Abnormal elasticity of skin 0.7% 1/140
Alopecia 0.7% 1/140
Aplasia cutis congenita of scalp 0.7% 1/140
Aplasia cutis congenita over the scalp vertex 0.7% 1/140
Atrophic, patchy alopecia 0.7% 1/140
Atrophic scars 0.7% 1/140
Bifid nail 0.7% 1/140
Bruising susceptibility 0.7% 1/140
Cutis laxa 0.7% 1/140
Cyanosis 0.7% 1/140
Deep palmar crease 0.7% 1/140
Fragile nails 0.7% 1/140
Hyperpigmentation of the skin 0.7% 1/140
Hyperkeratosis pilaris 0.7% 1/140
Hypohidrosis 0.7% 1/140
Localized hirsutism 0.7% 1/140
Low anterior hairline 0.7% 1/140
Melanocytic nevus 0.7% 1/140
Milia 0.7% 1/140
Multiple palmar creases 0.7% 1/140
Multiple cafe-au-lait spots 0.7% 1/140
Nail dystrophy 0.7% 1/140
Skin dimples 0.7% 1/140
Soft, doughy skin 0.7% 1/140
Sparse anterior scalp hair 0.7% 1/140
Uncombable hair 0.7% 1/140
Webbed neck 0.7% 1/140
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 8.7% 9/104
Growth hormone deficiency 3.8% 4/104
Gonadotropin deficiency 1.0% 1/104
Hypothyroidism 1.0% 1/104
Precocious puberty 1.0% 1/104
Primary adrenal insufficiency 1.0% 1/104
Abnormality of the metabolic system 7.8% 8/103
Neonatal hyperbilirubinemia 1.9% 2/103
Neonatal hypoglycemia 1.9% 2/103
Abnormality of circulating enzyme level 1.0% 1/103
Anemia 1.0% 1/103
Decreased activity of mitochondrial complex I 1.0% 1/103
Hypoglycemia 1.0% 1/103
Abnormality of the immune system 41.4% 46/111
Recurrent otitis media 6.3% 7/111
Recurrent respiratory infections 4.5% 5/111
Recurrent urinary tract infections 4.5% 5/111
Asthma 3.6% 4/111
Recurrent infections 3.6% 4/111
Recurrent upper respiratory tract infections 3.6% 4/111
Neutropenia 2.7% 3/111
Recurrent pneumonia 2.7% 3/111
Recurrent infections of the middle ear 2.7% 3/111
Chronic otitis media 1.8% 2/111
Recurrent bronchitis 1.8% 2/111
Aspiration pneumonia 0.9% 1/111
Bronchitis 0.9% 1/111
Bruising susceptibility 0.9% 1/111
Easy fatigability 0.9% 1/111
Recurrent cystitis 0.9% 1/111
Sepsis 0.9% 1/111
Neoplasia    
Neoplasia 9.6% 10/104
Hemangioma 2.9% 3/104
Gait disturbance 1.0% 1/104
Gait ataxia 1.0% 1/104
Medulloblastoma 1.0% 1/104
Melanoma 1.0% 1/104
Testicular neoplasm 1.0% 1/104
Verrucae 1.0% 1/104