ANKRD11

Graph and Chart

Patient Overview : 150

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 55.3% 83/150
Female 44.7% 67/150
Indifferent 0% 0/150
Unknown 0% 0/150
General    
Birth Length abnormalities 11.3% 18/160
< P3 : Birth length less than 3rd percentile 10.0% 16/160
> P98 : Birth length greater than 97th percentile 1.3% 2/160
Birth Weight abnormalities 17.0% 28/165
> P98 : Large for gestational age 0.6% 1/165
< P3 : Small for gestational age 16.4% 27/165
Birth Head circumference abnormalities 8.8% 14/160
< P3 : Congenital microcephaly 7.5% 12/160
> P98 : Macrocephaly at birth 1.3% 2/160
Current Height abnormalities 41.8% 71/170
< P3 : Short stature 40.0% 68/170
> P98 : Tall stature 1.8% 3/170
Current Weight abnormalities 20.2% 33/163
> P98 : Increased body weight 6.1% 10/163
< P3 : Decreased body weight 14.1% 23/163
Current Head circumference abnormalities 13.9% 23/165
< P3 : Microcephaly 12.1% 20/165
> P98 : Macrocephaly 1.8% 3/165
Neurology    
Neurological abnormalities 51.8% 71/137
Seizures 13.9% 19/137
Global developmental delay 10.2% 14/137
Generalized hypotonia 8.8% 12/137
Generalized tonic-clonic seizures 8.0% 11/137
Poor coordination 8.0% 11/137
Absence seizures 6.6% 9/137
Mild global developmental delay 4.4% 6/137
Delayed speech and language development 3.6% 5/137
Focal seizures 3.6% 5/137
Febrile seizures 2.9% 4/137
Generalized seizures 2.9% 4/137
Memory impairment 2.9% 4/137
Migraine 2.9% 4/137
Motor delay 2.9% 4/137
Pain insensitivity 2.9% 4/137
Delayed gross motor development 2.2% 3/137
Gait imbalance 2.2% 3/137
Generalized myoclonic seizures 2.2% 3/137
Migraine with aura 2.2% 3/137
Poor fine motor coordination 2.2% 3/137
Vertigo 2.2% 3/137
Ataxia 1.5% 2/137
Atonic seizures 1.5% 2/137
Cerebral palsy 1.5% 2/137
Delayed fine motor development 1.5% 2/137
Dysarthria 1.5% 2/137
Dyslexia 1.5% 2/137
Expressive language delay 1.5% 2/137
Gait disturbance 1.5% 2/137
Generalized neonatal hypotonia 1.5% 2/137
Generalized tonic seizures 1.5% 2/137
Hand tremor 1.5% 2/137
Impaired pain sensation 1.5% 2/137
Intellectual disability, mild 1.5% 2/137
Intellectual disability 1.5% 2/137
Muscular hypotonia 1.5% 2/137
Syncope 1.5% 2/137
Tethered cord 1.5% 2/137
Unilateral strabismus 1.5% 2/137
Abnormality of pain sensation 0.7% 1/137
Abnormality of fontanelles 0.7% 1/137
Abnormality of the vestibular nerve 0.7% 1/137
Abnormality of the temporomandibular joint 0.7% 1/137
Abnormal muscle tone 0.7% 1/137
Absent speech 0.7% 1/137
Anterior pituitary hypoplasia 0.7% 1/137
Anxiety 0.7% 1/137
Attention deficit hyperactivity disorder 0.7% 1/137
Brain atrophy 0.7% 1/137
Broad-based gait 0.7% 1/137
Central apnea 0.7% 1/137
Central hypotonia 0.7% 1/137
Delayed social development 0.7% 1/137
Delayed closure of the anterior fontanelle 0.7% 1/137
Dementia 0.7% 1/137
Dyscalculia 0.7% 1/137
Dysgraphia 0.7% 1/137
Dysphagia 0.7% 1/137
EEG abnormality 0.7% 1/137
EEG with generalized epileptiform discharges 0.7% 1/137
EEG with generalized polymorphic epileptiform discharges 0.7% 1/137
EEG with multifocal slow activity 0.7% 1/137
Facial hypotonia 0.7% 1/137
Focal tonic seizures 0.7% 1/137
Focal seizures with impairment of consciousness or awareness 0.7% 1/137
Focal myoclonic seizures 0.7% 1/137
Frequent falls 0.7% 1/137
Gait ataxia 0.7% 1/137
Gelastic seizures 0.7% 1/137
Generalized clonic seizures 0.7% 1/137
Headache 0.7% 1/137
High pitched voice 0.7% 1/137
Hyperextensibility of the knee 0.7% 1/137
Impaired distal tactile sensation 0.7% 1/137
Impaired tactile sensation 0.7% 1/137
Increased intracranial pressure 0.7% 1/137
Infantile muscular hypotonia 0.7% 1/137
Joint hypermobility 0.7% 1/137
Kinetic tremor 0.7% 1/137
Limb dystonia 0.7% 1/137
Moderate global developmental delay 0.7% 1/137
Muscular hypotonia of the trunk 0.7% 1/137
Myoclonus 0.7% 1/137
Myokymia 0.7% 1/137
Neonatal hypotonia 0.7% 1/137
Paresthesia 0.7% 1/137
Polymorphic focal epileptiform discharges 0.7% 1/137
Poor suck 0.7% 1/137
Poor motor coordination 0.7% 1/137
Poor eye contact 0.7% 1/137
Short attention span 0.7% 1/137
Shuffling gait 0.7% 1/137
Shyness 0.7% 1/137
Sleep myoclonus 0.7% 1/137
Sleep disturbance 0.7% 1/137
Slowed slurred speech 0.7% 1/137
Spastic diplegia 0.7% 1/137
Specific learning disability 0.7% 1/137
Speech articulation difficulties 0.7% 1/137
Synovitis 0.7% 1/137
Tachypnea 0.7% 1/137
Tinnitus 0.7% 1/137
Truncal ataxia 0.7% 1/137
Behavioral problems 85.9% 110/128
Attention deficit hyperactivity disorder 34.4% 44/128
Autism 32.0% 41/128
Anxiety 14.8% 19/128
Short attention span 13.3% 17/128
Delayed speech and language development 9.4% 12/128
Obsessive-compulsive behavior 9.4% 12/128
Aggressive behavior 8.6% 11/128
Impaired social interactions 8.6% 11/128
Impulsivity 7.8% 10/128
Autistic behavior 5.5% 7/128
Abnormal aggressive, impulsive or violent behavior 4.7% 6/128
Oppositional defiant disorder 4.7% 6/128
Behavioral abnormality 3.9% 5/128
Hyperactivity 3.9% 5/128
Repetitive compulsive behavior 3.9% 5/128
Global developmental delay 3.1% 4/128
Mild global developmental delay 3.1% 4/128
Poor eye contact 3.1% 4/128
Recurrent hand flapping 3.1% 4/128
Abnormal emotion/affect behavior 2.3% 3/128
Autism with high cognitive abilities 2.3% 3/128
Developmental regression 2.3% 3/128
Expressive language delay 2.3% 3/128
Inappropriate sexual behavior 2.3% 3/128
Self-injurious behavior 2.3% 3/128
Sensory impairment 2.3% 3/128
Specific learning disability 2.3% 3/128
Absent speech 1.6% 2/128
Delayed gross motor development 1.6% 2/128
Depression 1.6% 2/128
Inflexible adherence to routines or rituals 1.6% 2/128
Intellectual disability, mild 1.6% 2/128
Irritability 1.6% 2/128
Receptive language delay 1.6% 2/128
Restlessness 1.6% 2/128
Stereotypic behavior 1.6% 2/128
Tics 1.6% 2/128
Violent behavior 1.6% 2/128
Abnormal social behavior 0.8% 1/128
Abnormal eating behavior 0.8% 1/128
Abnormal fear/anxiety-related behavior 0.8% 1/128
Apathy 0.8% 1/128
Cognitive impairment 0.8% 1/128
Decreased facial expression 0.8% 1/128
Delayed fine motor development 0.8% 1/128
Dyslexia 0.8% 1/128
Emotional lability 0.8% 1/128
Enuresis nocturna 0.8% 1/128
Inappropriate behavior 0.8% 1/128
Insomnia 0.8% 1/128
Intellectual disability, moderate 0.8% 1/128
Low frustration tolerance 0.8% 1/128
Moderate global developmental delay 0.8% 1/128
Motor delay 0.8% 1/128
No social interaction 0.8% 1/128
Pain insensitivity 0.8% 1/128
Pica 0.8% 1/128
Poor gross motor coordination 0.8% 1/128
Precocious puberty 0.8% 1/128
Psychosis 0.8% 1/128
Self-biting 0.8% 1/128
Sensory neuropathy 0.8% 1/128
Severe expressive language delay 0.8% 1/128
Shyness 0.8% 1/128
Sleep disturbance 0.8% 1/128
Slurred speech 0.8% 1/128
Tongue thrusting 0.8% 1/128
Brain abnormality 27.4% 26/95
EEG abnormality 5.3% 5/95
Brain atrophy 3.2% 3/95
Arachnoid cyst 2.1% 2/95
Heterotopia 2.1% 2/95
Abnormality of the spinal cord 1.1% 1/95
Abnormality of brain morphology 1.1% 1/95
Abnormal length of corpus callosum 1.1% 1/95
Abnormality of the sella turcica 1.1% 1/95
Aplasia/Hypoplasia of the corpus callosum 1.1% 1/95
Aplasia/Hypoplasia of the cerebellar vermis 1.1% 1/95
Ataxia 1.1% 1/95
Calcification of the small brain vessels 1.1% 1/95
Cerebellar hypoplasia 1.1% 1/95
Choroid plexus cyst 1.1% 1/95
Colpocephaly 1.1% 1/95
Deformed sella turcica 1.1% 1/95
Delayed CNS myelination 1.1% 1/95
Delayed closure of the anterior fontanelle 1.1% 1/95
Dysplastic corpus callosum 1.1% 1/95
Hydrocephalus 1.1% 1/95
Macrocephaly 1.1% 1/95
Meningitis 1.1% 1/95
Microcephaly 1.1% 1/95
Optic nerve hypoplasia 1.1% 1/95
Perivascular spaces 1.1% 1/95
Pineal cyst 1.1% 1/95
Posterior fossa cyst 1.1% 1/95
Retrocerebellar cyst 1.1% 1/95
Small pituitary gland 1.1% 1/95
Subdural hemorrhage 1.1% 1/95
Ventriculomegaly 1.1% 1/95
Facial abnormalities    
Abnormality of the ear 52.9% 73/138
Protruding ear 23.2% 32/138
Macrotia 21.7% 30/138
Low-set ears 10.1% 14/138
Large fleshy ears 3.6% 5/138
Large earlobe 2.9% 4/138
Anteverted ears 2.2% 3/138
Low-set, posteriorly rotated ears 2.2% 3/138
Preauricular skin tag 2.2% 3/138
Uplifted earlobe 2.2% 3/138
Abnormality of the pinna 1.4% 2/138
Abnormality of earlobe 1.4% 2/138
Attached earlobe 1.4% 2/138
Bilateral conductive hearing impairment 1.4% 2/138
Chronic otitis media 1.4% 2/138
Periauricular skin pits 1.4% 2/138
Posteriorly rotated ears 1.4% 2/138
Preauricular pit 1.4% 2/138
Abnormality of the helix 0.7% 1/138
Abnormality of the Eustachian tube 0.7% 1/138
Abnormality of the antihelix 0.7% 1/138
Abnormality of the tympanic membrane 0.7% 1/138
Aplasia/Hypoplasia of the external ear 0.7% 1/138
Asymmetry of the ears 0.7% 1/138
Blocked Eustachian tube 0.7% 1/138
Cholesteatoma 0.7% 1/138
Conductive hearing impairment 0.7% 1/138
Cupped ear 0.7% 1/138
Hearing impairment 0.7% 1/138
Hypoplastic helices 0.7% 1/138
Long eyelashes 0.7% 1/138
Prominent ear helix 0.7% 1/138
Prominent antihelix 0.7% 1/138
Prominent eyelashes 0.7% 1/138
Recurrent otitis media 0.7% 1/138
Recurrent infections 0.7% 1/138
Skin dimples 0.7% 1/138
Thickened helices 0.7% 1/138
Abnormality of the eye 60.1% 83/138
Hypertelorism 17.4% 24/138
Long eyelashes 16.7% 23/138
Synophrys 13.8% 19/138
Thick eyebrow 13.0% 18/138
Strabismus 6.5% 9/138
Upslanted palpebral fissure 5.1% 7/138
Amblyopia 3.6% 5/138
Anteverted nares 3.6% 5/138
Downslanted palpebral fissures 3.6% 5/138
Large eyes 2.9% 4/138
Long eyebrows 2.9% 4/138
Prominent eyelashes 2.9% 4/138
Highly arched eyebrow 2.2% 3/138
Myopia 2.2% 3/138
Abnormality of vision 1.4% 2/138
Abnormal eye morphology 1.4% 2/138
Astigmatism 1.4% 2/138
Epicanthus 1.4% 2/138
Horizontal eyebrow 1.4% 2/138
Long palpebral fissure 1.4% 2/138
Nystagmus 1.4% 2/138
Prominent epicanthal folds 1.4% 2/138
Short palpebral fissure 1.4% 2/138
Unilateral strabismus 1.4% 2/138
Abnormality of the conjunctiva 0.7% 1/138
Abnormality of the eyelid 0.7% 1/138
Abnormality of the palpebral fissures 0.7% 1/138
Abnormal shape of the palpebral fissure 0.7% 1/138
Abnormality of the eyelashes 0.7% 1/138
Abnormality of the cornea 0.7% 1/138
Almond-shaped palpebral fissure 0.7% 1/138
Bilateral ptosis 0.7% 1/138
Blepharitis 0.7% 1/138
Congenital bilateral ptosis 0.7% 1/138
Congenital strabismus 0.7% 1/138
Congenital nystagmus 0.7% 1/138
Deeply set eye 0.7% 1/138
Difficulty adjusting from dark to light 0.7% 1/138
Entropion 0.7% 1/138
Esotropia 0.7% 1/138
Exotropia 0.7% 1/138
Hyperopic astigmatism 0.7% 1/138
Hypotelorism 0.7% 1/138
Iris coloboma 0.7% 1/138
Lacrimal duct aplasia 0.7% 1/138
Nasolacrimal duct obstruction 0.7% 1/138
Proptosis 0.7% 1/138
Ptosis 0.7% 1/138
Sparse eyelashes 0.7% 1/138
Telecanthus 0.7% 1/138
Abnormality of the nose 76.3% 106/139
Abnormality of the nose 33.1% 46/139
Bulbous nose 23.7% 33/139
Wide nasal bridge 21.6% 30/139
Anteverted nares 19.4% 27/139
Prominent nasal bridge 14.4% 20/139
Prominent nasal tip 11.5% 16/139
Wide nasal base 10.8% 15/139
Broad nasal tip 7.2% 10/139
Wide nose 2.9% 4/139
Depressed nasal bridge 2.2% 3/139
Abnormality of the nasal tip 1.4% 2/139
Long philtrum 1.4% 2/139
Short nose 1.4% 2/139
Abnormal size of nasopharyngeal adenoids 0.7% 1/139
Abnormal nasal base 0.7% 1/139
Abnormality of the nasal bridge 0.7% 1/139
Absent nasal bridge 0.7% 1/139
Bulbous tips of toes 0.7% 1/139
Choanal atresia 0.7% 1/139
Chronic sinusitis 0.7% 1/139
Deviated nasal septum 0.7% 1/139
Hypertelorism 0.7% 1/139
Hypoplastic nasal bridge 0.7% 1/139
Hypoplastic frontal sinuses 0.7% 1/139
Short columella 0.7% 1/139
Thin anteverted nares 0.7% 1/139
Abnormality of the mouth 92.9% 131/141
Macrodontia 41.1% 58/141
Thin upper lip vermilion 11.3% 16/141
Thin vermilion border 9.9% 14/141
Macrodontia of permanent maxillary central incisor 8.5% 12/141
Long philtrum 7.1% 10/141
Carious teeth 6.4% 9/141
Exaggerated cupid's bow 6.4% 9/141
High palate 6.4% 9/141
Incisor macrodontia 5.7% 8/141
Abnormality of upper lip vermillion 4.3% 6/141
Dental crowding 4.3% 6/141
Wide mouth 4.3% 6/141
Abnormality of dental enamel 3.5% 5/141
Abnormality of the teeth 3.5% 5/141
Retrognathia 3.5% 5/141
Tented upper lip vermilion 3.5% 5/141
Thick vermilion border 3.5% 5/141
Dental malocclusion 2.8% 4/141
Persistence of primary teeth 2.8% 4/141
Tented philtrum 2.8% 4/141
Thick lower lip vermilion 2.8% 4/141
Ankyloglossia 2.1% 3/141
High, narrow palate 2.1% 3/141
Abnormality of the philtrum 1.4% 2/141
Bifid uvula 1.4% 2/141
Hypodontia 1.4% 2/141
Micrognathia 1.4% 2/141
Misalignment of teeth 1.4% 2/141
Narrow palate 1.4% 2/141
Open bite 1.4% 2/141
Tongue thrusting 1.4% 2/141
Velopharyngeal insufficiency 1.4% 2/141
Abnormality of oral frenula 0.7% 1/141
Abnormality of lower lip 0.7% 1/141
Abnormality of the palate 0.7% 1/141
Abnormality of the soft palate 0.7% 1/141
Abnormal number of teeth 0.7% 1/141
Abnormality of dental morphology 0.7% 1/141
Abnormality of the hard palate 0.7% 1/141
Abnormal number of permanent teeth 0.7% 1/141
Abnormal jaw morphology 0.7% 1/141
Abnormality of the maxilla 0.7% 1/141
Broad philtrum 0.7% 1/141
Cleft soft palate 0.7% 1/141
Deep philtrum 0.7% 1/141
Delayed eruption of teeth 0.7% 1/141
Dental enamel pits 0.7% 1/141
Hypoplasia of teeth 0.7% 1/141
Jaw ankylosis 0.7% 1/141
Long upper lip 0.7% 1/141
Macrotia 0.7% 1/141
Narrow jaw 0.7% 1/141
Overbite 0.7% 1/141
Premature loss of teeth 0.7% 1/141
Premature loss of primary teeth 0.7% 1/141
Rotated maxillary central incisors 0.7% 1/141
Short lingual frenulum 0.7% 1/141
Smooth philtrum 0.7% 1/141
Taurodontia 0.7% 1/141
Triangular mouth 0.7% 1/141
Trismus 0.7% 1/141
Unilateral cleft lip 0.7% 1/141
U-Shaped upper lip vermilion 0.7% 1/141
Yellow-brown discoloration of the teeth 0.7% 1/141
Visual and hearing impairments    
Abnormal hearing 49.3% 70/142
Conductive hearing impairment 12.7% 18/142
Hearing impairment 11.3% 16/142
Bilateral conductive hearing impairment 8.5% 12/142
Abnormality of the Eustachian tube 2.8% 4/142
Bilateral sensorineural hearing impairment 2.8% 4/142
Hearing abnormality 2.1% 3/142
Mixed hearing impairment 2.1% 3/142
Otitis media 2.1% 3/142
Abnormality of the tympanic membrane 1.4% 2/142
Mild hearing impairment 1.4% 2/142
Sensorineural hearing impairment 1.4% 2/142
Stenosis of the Eustachian tube 1.4% 2/142
Apnea 0.7% 1/142
Enlarged vestibular aqueduct 0.7% 1/142
Impacted cerumen 0.7% 1/142
Low-frequency hearing loss 0.7% 1/142
Recurrent otitis media 0.7% 1/142
Unilateral deafness 0.7% 1/142
Abnormal vision 58.5% 79/135
Astigmatism 16.3% 22/135
Myopia 15.6% 21/135
Strabismus 13.3% 18/135
Hypermetropia 11.1% 15/135
Amblyopia 7.4% 10/135
Abnormality of vision 5.9% 8/135
Visual impairment 4.4% 6/135
Hyperopic astigmatism 3.0% 4/135
Anisometropia 2.2% 3/135
Nystagmus 2.2% 3/135
Blurred vision 1.5% 2/135
Unilateral strabismus 1.5% 2/135
Cataract 0.7% 1/135
Congenital bilateral ptosis 0.7% 1/135
Cortical visual impairment 0.7% 1/135
Difficulty adjusting from dark to light 0.7% 1/135
Esotropia 0.7% 1/135
Horizontal nystagmus 0.7% 1/135
Intermediate uveitis 0.7% 1/135
Peripheral visual field loss 0.7% 1/135
Heart    
Abnormality of the heart 26.6% 38/143
Ventricular septal defect 9.1% 13/143
Atria septal defect 5.6% 8/143
Heart murmur 4.2% 6/143
Patent foramen ovale 4.2% 6/143
Abnormality of the mitral valve 2.1% 3/143
Aortic aneurysm 1.4% 2/143
Bicuspid aortic valve 1.4% 2/143
Mitral regurgitation 1.4% 2/143
Pericardial effusion 1.4% 2/143
Persistent left superior vena cava 1.4% 2/143
Abnormality of the aortic valve 0.7% 1/143
Abnormality of the heart valves 0.7% 1/143
Abnormality of the atrial septum 0.7% 1/143
Abnormal heart morphology 0.7% 1/143
Abnormality of the coronary arteries 0.7% 1/143
Abnormality of cardiac atrium 0.7% 1/143
Abnormality of the endocardium 0.7% 1/143
Arrhythmia 0.7% 1/143
Atrial fibrillation 0.7% 1/143
Atrioventricular canal defect 0.7% 1/143
Bradycardia 0.7% 1/143
Cardiac arrest 0.7% 1/143
Cardiomegaly 0.7% 1/143
Coarctation of aorta 0.7% 1/143
Dilated cardiomyopathy 0.7% 1/143
Exercise intolerance 0.7% 1/143
Patent ductus arteriosus after birth at term 0.7% 1/143
Primum atrial septal defect 0.7% 1/143
Sinus tachycardia 0.7% 1/143
Tetralogy of Fallot 0.7% 1/143
Tetralogy of Fallot with pulmonary stenosis 0.7% 1/143
Pulmonary    
Abnormality of the lungs 5.1% 4/79
Asthma 3.8% 3/79
Pulmonary hypoplasia 1.3% 1/79
Gastrointestinal    
Gastrointestinal abnormalities 52.4% 77/147
Feeding difficulties 25.9% 38/147
Gastroesophageal reflux 18.4% 27/147
Feeding difficulties in infancy 12.2% 18/147
Constipation 8.8% 13/147
Vomiting 7.5% 11/147
Nasogastric tube feeding in infancy 4.8% 7/147
Abdominal pain 3.4% 5/147
Chronic constipation 3.4% 5/147
Episodic vomiting 3.4% 5/147
Dysphagia 2.7% 4/147
Poor suck 2.7% 4/147
Gastrostomy tube feeding in infancy 2.0% 3/147
Diarrhea 1.4% 2/147
Hiatus hernia 1.4% 2/147
Inguinal hernia 1.4% 2/147
Projectile vomiting 1.4% 2/147
Abdominal colic 0.7% 1/147
Abdominal distention 0.7% 1/147
Abnormality of the anus 0.7% 1/147
Aspiration 0.7% 1/147
Bowel incontinence 0.7% 1/147
Bowel urgency 0.7% 1/147
Celiac disease 0.7% 1/147
Chewing difficulties 0.7% 1/147
Chronic diarrhea 0.7% 1/147
Chylothorax 0.7% 1/147
Crohn's disease 0.7% 1/147
Delayed self-feeding during toddler years 0.7% 1/147
Episodic abdominal pain 0.7% 1/147
Esophagitis 0.7% 1/147
Exocrine pancreatic insufficiency 0.7% 1/147
Food intolerance 0.7% 1/147
Gastrointestinal obstruction 0.7% 1/147
Gastroparesis 0.7% 1/147
Hernia 0.7% 1/147
Hypoglycemia 0.7% 1/147
Intestinal malrotation 0.7% 1/147
Nausea 0.7% 1/147
Nausea and vomiting 0.7% 1/147
Oral aversion 0.7% 1/147
Poor appetite 0.7% 1/147
Rectal prolapse 0.7% 1/147
Recurrent candida infections 0.7% 1/147
Umbilical hernia 0.7% 1/147
Weight loss 0.7% 1/147
Urogenital    
Abnormality of the urogenital system 31.7% 44/139
Cryptorchidism 12.2% 17/139
Hypospadias 2.9% 4/139
Recurrent urinary tract infections 2.9% 4/139
Inguinal hernia 2.2% 3/139
Abnormality of the kidney 1.4% 2/139
Abnormality of the renal collecting system 1.4% 2/139
Bilateral cryptorchidism 1.4% 2/139
Hydronephrosis 1.4% 2/139
Vesicoureteral reflux 1.4% 2/139
Abnormality of the urethra 0.7% 1/139
Abnormality of the bladder 0.7% 1/139
Benign prostatic hyperplasia 0.7% 1/139
Congenital absence of foreskin 0.7% 1/139
Enuresis nocturna 0.7% 1/139
Enuresis diurna 0.7% 1/139
Enuresis 0.7% 1/139
Functional abnormality of the bladder 0.7% 1/139
Hydrocele testis 0.7% 1/139
Infertility 0.7% 1/139
Phimosis 0.7% 1/139
Pollakisuria 0.7% 1/139
Polycystic ovaries 0.7% 1/139
Polyuria 0.7% 1/139
Spastic/hyperactive bladder 0.7% 1/139
Testicular torsion 0.7% 1/139
Unilateral cryptorchidism 0.7% 1/139
Urinary incontinence 0.7% 1/139
Skeleton    
Skeletal abnormalities 84.9% 124/146
Pes planus 17.8% 26/146
Short stature 14.4% 21/146
Clinodactyly of the 5th finger 13.0% 19/146
Delayed skeletal maturation 13.0% 19/146
Scoliosis 13.0% 19/146
Brachydactyly syndrome 8.9% 13/146
Brachycephaly 8.2% 12/146
Clinodactyly 6.8% 10/146
Generalized hypotonia 5.5% 8/146
Hip dysplasia 5.5% 8/146
Kyphosis 4.8% 7/146
Sacral dimple 4.8% 7/146
Small hand 4.8% 7/146
Large fontanelles 4.1% 6/146
Macrocephaly 4.1% 6/146
Pectus excavatum 4.1% 6/146
Abnormality of the ribs 3.4% 5/146
2-3 toe syndactyly 3.4% 5/146
Muscular hypotonia 2.7% 4/146
Short 5th finger 2.7% 4/146
Abnormality of the hip joint 2.1% 3/146
Abnormality of the hand 2.1% 3/146
Kyphoscoliosis 2.1% 3/146
Microcephaly 2.1% 3/146
Mild short stature 2.1% 3/146
Plagiocephaly 2.1% 3/146
Sandal gap 2.1% 3/146
Short foot 2.1% 3/146
Toe clinodactyly 2.1% 3/146
Abnormality of the anterior fontanelle 1.4% 2/146
Abnormality of the hallux 1.4% 2/146
Abnormality of the ankles 1.4% 2/146
Abnormality of the thumb 1.4% 2/146
Abnormality of the foot 1.4% 2/146
Achilles tendon contracture 1.4% 2/146
Cervical kyphosis 1.4% 2/146
Cervical ribs 1.4% 2/146
Delayed cranial suture closure 1.4% 2/146
Delayed closure of the anterior fontanelle 1.4% 2/146
Dysharmonic delayed bone age 1.4% 2/146
Flat occiput 1.4% 2/146
Generalized osteoporosis 1.4% 2/146
Lumbar hyperlordosis 1.4% 2/146
Muscular hypotonia of the trunk 1.4% 2/146
Osteopenia 1.4% 2/146
Severe short stature 1.4% 2/146
Single transverse palmar crease 1.4% 2/146
Thoracic kyphosis 1.4% 2/146
Toe walking 1.4% 2/146
Unilateral brachydactyly 1.4% 2/146
Wide anterior fontanel 1.4% 2/146
Abnormality of the middle phalanx of the 5th finger 0.7% 1/146
Abnormality of the thorax 0.7% 1/146
Abnormality of the vertebral column 0.7% 1/146
Abnormal bone ossification 0.7% 1/146
Abnormal joint morphology 0.7% 1/146
Abnormality of the middle phalanx of the 2nd finger 0.7% 1/146
Abnormal morphology of bones of the lower limbs 0.7% 1/146
Abnormal form of the vertebral bodies 0.7% 1/146
Abnormality of the vertebrae 0.7% 1/146
Abnormality of the palmar creases 0.7% 1/146
Abnormal tendon morphology 0.7% 1/146
Abnormality of the hip bone 0.7% 1/146
Abnormal axial skeleton morphology 0.7% 1/146
Abnormality of the vertebral endplates 0.7% 1/146
Abnormality of the rib cage 0.7% 1/146
Abnormality of the femur 0.7% 1/146
Abnormality of the 5th finger 0.7% 1/146
Ankle clonus 0.7% 1/146
Aplasia/Hypoplasia of the maxilla 0.7% 1/146
Aplasia/Hypoplasia of the middle phalanges of the hand 0.7% 1/146
Avascular necrosis of the capital femoral epiphysis 0.7% 1/146
Back pain 0.7% 1/146
Bilateral single transverse palmar creases 0.7% 1/146
Bone cyst 0.7% 1/146
Broad forehead 0.7% 1/146
Broad palm 0.7% 1/146
Broad toe 0.7% 1/146
Camptodactyly of finger 0.7% 1/146
Camptodactyly 0.7% 1/146
Central hypotonia 0.7% 1/146
Clinodactyly of the 5th toe 0.7% 1/146
Congenital hip dislocation 0.7% 1/146
Coxa valga 0.7% 1/146
Craniosynostosis 0.7% 1/146
Curved fingers 0.7% 1/146
Dolichocephaly 0.7% 1/146
Down-sloping shoulders 0.7% 1/146
Finger joint hypermobility 0.7% 1/146
Flattened moderately deformed vertebrae 0.7% 1/146
Gait ataxia 0.7% 1/146
Gait disturbance 0.7% 1/146
Hallux varus 0.7% 1/146
Hyperlordosis 0.7% 1/146
Hypermobility of toe joints 0.7% 1/146
Hypocalcemia 0.7% 1/146
Increased susceptibility to fractures 0.7% 1/146
Intrauterine growth retardation 0.7% 1/146
Joint contracture of the hand 0.7% 1/146
Limb joint contracture 0.7% 1/146
Limited pronation/supination of forearm 0.7% 1/146
Lower thoracic kyphosis 0.7% 1/146
Lower limb pain 0.7% 1/146
Lumbar scoliosis 0.7% 1/146
Metatarsus adductus 0.7% 1/146
Multiple palmar creases 0.7% 1/146
Osteochondritis Dissecans 0.7% 1/146
Painless fractures due to injury 0.7% 1/146
Patellar dislocation 0.7% 1/146
Pectus carinatum 0.7% 1/146
Pelvic bone asymmetry 0.7% 1/146
Persistent open anterior fontanelle 0.7% 1/146
Postaxial hand polydactyly 0.7% 1/146
Proportionate short stature 0.7% 1/146
Pseudoepiphyses of second metacarpal 0.7% 1/146
Sacralization of the fifth lumbar vertebra 0.7% 1/146
Scapular winging 0.7% 1/146
Short finger 0.7% 1/146
Shortening of all middle phalanges of the fingers 0.7% 1/146
Shortening of all proximal phalanges of the fingers 0.7% 1/146
Short lower limbs 0.7% 1/146
Short palm 0.7% 1/146
Short digit 0.7% 1/146
Short humerus 0.7% 1/146
Short hallux 0.7% 1/146
Shortening of all distal phalanges of the fingers 0.7% 1/146
Short toe 0.7% 1/146
Small for gestational age 0.7% 1/146
Spina bifida occulta 0.7% 1/146
Syndactyly 0.7% 1/146
Tapered finger 0.7% 1/146
Tethered cord 0.7% 1/146
Thoracolumbar scoliosis 0.7% 1/146
Tibial torsion 0.7% 1/146
Toe syndactyly 0.7% 1/146
Trigonocephaly 0.7% 1/146
Unsteady gait 0.7% 1/146
Upper limb undergrowth 0.7% 1/146
Wormian bones 0.7% 1/146
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 38.7% 55/142
Abnormality of the skin 15.5% 22/142
Low anterior hairline 6.3% 9/142
Eczema 2.8% 4/142
Single transverse palmar crease 2.8% 4/142
Coarse hair 2.1% 3/142
Dry skin 2.1% 3/142
Dystrophic toenail 2.1% 3/142
Fingernail dysplasia 2.1% 3/142
Hyperkeratosis pilaris 2.1% 3/142
Macrodontia of permanent maxillary central incisor 2.1% 3/142
Cutis marmorata 1.4% 2/142
Facial hirsutism 1.4% 2/142
Hirsutism 1.4% 2/142
Inverted nipples 1.4% 2/142
Low posterior hairline 1.4% 2/142
Psoriasis 1.4% 2/142
Abnormality of dental eruption 0.7% 1/142
Abnormality of the palmar creases 0.7% 1/142
Abnormality of the scalp 0.7% 1/142
Abnormal hair whorl 0.7% 1/142
Abnormality of the fingernails 0.7% 1/142
Abnormality of the nail 0.7% 1/142
Abnormality of the nipple 0.7% 1/142
Abnormality of the frontal hairline 0.7% 1/142
Absent toenail 0.7% 1/142
Acne 0.7% 1/142
Atopic dermatitis 0.7% 1/142
Atypical scarring of skin 0.7% 1/142
Cafe-au-lait spot 0.7% 1/142
Cellulitis 0.7% 1/142
Clinodactyly of the 5th finger 0.7% 1/142
Cyst of the eyelid 0.7% 1/142
Dental malocclusion 0.7% 1/142
Fine hair 0.7% 1/142
Frontal upsweep of hair 0.7% 1/142
Hypertrichosis 0.7% 1/142
Increased number of teeth 0.7% 1/142
Multiple plantar creases 0.7% 1/142
Nevus 0.7% 1/142
Prominent eyelashes 0.7% 1/142
Recurrent fungal infections 0.7% 1/142
Sacral dimple 0.7% 1/142
Small nail 0.7% 1/142
Sparse anterior scalp hair 0.7% 1/142
Sparse hair 0.7% 1/142
Thick hair 0.7% 1/142
Thin skin 0.7% 1/142
Umbilical hernia 0.7% 1/142
Urticaria 0.7% 1/142
Vitiligo 0.7% 1/142
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 13.9% 19/137
Growth hormone deficiency 4.4% 6/137
Precocious puberty in females 1.5% 2/137
Abnormal glucose homeostasis 0.7% 1/137
Abnormality of folate metabolism 0.7% 1/137
Abnormal sweat homeostasis 0.7% 1/137
Adrenal insufficiency 0.7% 1/137
Decreased serum insulin-like growth factor 1 0.7% 1/137
Diabetes mellitus 0.7% 1/137
Dysharmonic delayed bone age 0.7% 1/137
Facial hirsutism 0.7% 1/137
Fatigue 0.7% 1/137
Generalized osteoporosis 0.7% 1/137
Generalized hirsutism 0.7% 1/137
Hirsutism 0.7% 1/137
Hyperglycemia 0.7% 1/137
Hypoglycemia 0.7% 1/137
Hypohidrotic ectodermal dysplasia 0.7% 1/137
Increased circulating ACTH level 0.7% 1/137
Juvenile rheumatoid arthritis 0.7% 1/137
Menstrual irregularities 0.7% 1/137
Neonatal hypoglycemia 0.7% 1/137
Polydipsia 0.7% 1/137
Polyuria 0.7% 1/137
Short stature 0.7% 1/137
Small pituitary gland 0.7% 1/137
Thyroid-stimulating hormone excess 0.7% 1/137
Abnormality of the metabolic system 19.7% 28/142
Slender build 4.2% 6/142
Abnormality of temperature regulation 3.5% 5/142
Failure to thrive 2.8% 4/142
Pain insensitivity 2.8% 4/142
Sleep disturbance 2.8% 4/142
Chronic fatigue 2.1% 3/142
Failure to thrive in infancy 2.1% 3/142
Impaired pain sensation 2.1% 3/142
Abnormality of body weight 1.4% 2/142
Anemia 1.4% 2/142
Apnea 1.4% 2/142
Abnormal platelet function 0.7% 1/142
Abnormality of pain sensation 0.7% 1/142
Abnormality of alkaline phosphatase activity 0.7% 1/142
Abnormality of copper homeostasis 0.7% 1/142
Absence of subcutaneous fat 0.7% 1/142
Aspiration 0.7% 1/142
Asthma 0.7% 1/142
Bruising susceptibility 0.7% 1/142
Congenital diaphragmatic hernia 0.7% 1/142
Cyanotic episode 0.7% 1/142
Edema 0.7% 1/142
Erythrocyte macrocytosis 0.7% 1/142
Generalized edema 0.7% 1/142
Hamstring contractures 0.7% 1/142
Hyperbilirubinemia 0.7% 1/142
Impaired temperature sensation 0.7% 1/142
Inguinal hernia 0.7% 1/142
Iron deficiency anemia 0.7% 1/142
Jaundice 0.7% 1/142
Neonatal respiratory distress 0.7% 1/142
Postnatal growth retardation 0.7% 1/142
Prolonged neonatal jaundice 0.7% 1/142
Pulmonary edema 0.7% 1/142
Reduced factor VII activity 0.7% 1/142
Sleep apnea 0.7% 1/142
Small for gestational age 0.7% 1/142
Umbilical hernia 0.7% 1/142
Weight loss 0.7% 1/142
Abnormality of the immune system 17.6% 24/136
Recurrent otitis media 3.7% 5/136
Allergy 2.9% 4/136
Recurrent infections in infancy and early childhood 1.5% 2/136
Recurrent sinusitis 1.5% 2/136
Sinusitis 1.5% 2/136
Abnormal size of nasopharyngeal adenoids 0.7% 1/136
Abnormal immunoglobulin level 0.7% 1/136
Abnormality of cellular immune system 0.7% 1/136
Abnormality of T cells 0.7% 1/136
Abnormality of B cells 0.7% 1/136
Allergic rhinitis 0.7% 1/136
Celiac disease 0.7% 1/136
Cellular immunodeficiency 0.7% 1/136
Chronic sinusitis 0.7% 1/136
Cow milk allergy 0.7% 1/136
Episodic fever 0.7% 1/136
Esophagitis 0.7% 1/136
Immunodeficiency 0.7% 1/136
Increased size of nasopharyngeal adenoids 0.7% 1/136
Juvenile rheumatoid arthritis 0.7% 1/136
Leukopenia 0.7% 1/136
Lymphopenia 0.7% 1/136
Pancytopenia 0.7% 1/136
Pneumonia 0.7% 1/136
Psoriasis 0.7% 1/136
Recurrent upper respiratory tract infections 0.7% 1/136
Recurrent infections 0.7% 1/136
Rheumatoid arthritis 0.7% 1/136
Seasonal allergy 0.7% 1/136
Neoplasia    
Neoplasia 0.7% 1/144
Abnormality of the coccyx 0.7% 1/144