NAA10

Graph and Chart

Patient Overview : 98

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 32.7% 32/98
Female 67.3% 66/98
General    
Speech delay 100.0% 94/94
Developmental regression 1.1% 1/94
Intellectual disabillity 100.0% 89/89
Developmental regression 1.1% 1/89
Neurology    
Neurological abnormalities 97.9% 94/96
Severe global developmental delay 38.5% 37/96
Motor delay 36.5% 35/96
Delayed speech and language development 29.2% 28/96
Generalized hypotonia 28.1% 27/96
Gait disturbance 24.0% 23/96
Global developmental delay 21.9% 21/96
Seizures 19.8% 19/96
Moderate global developmental delay 15.6% 15/96
Neonatal hypotonia 14.6% 14/96
Delayed fine motor development 13.5% 13/96
Poor fine motor coordination 13.5% 13/96
Absent speech 10.4% 10/96
Microcephaly 10.4% 10/96
Poor coordination 8.3% 8/96
Toe walking 8.3% 8/96
Delayed gross motor development 7.3% 7/96
Generalized neonatal hypotonia 7.3% 7/96
Gait imbalance 6.3% 6/96
Absence seizures 5.2% 5/96
Developmental regression 5.2% 5/96
Expressive language delay 5.2% 5/96
Frequent falls 5.2% 5/96
Inability to walk 5.2% 5/96
Poor motor coordination 5.2% 5/96
Apraxia 4.2% 4/96
Broad-based gait 4.2% 4/96
Cerebral palsy 4.2% 4/96
EEG abnormality 4.2% 4/96
Generalized tonic-clonic seizures 4.2% 4/96
Infantile axial hypotonia 4.2% 4/96
Dystonia 3.1% 3/96
Hemiparesis 3.1% 3/96
Infantile muscular hypotonia 3.1% 3/96
Intellectual disability, severe 3.1% 3/96
Limb hypertonia 3.1% 3/96
Myoclonus 3.1% 3/96
Ventriculomegaly 3.1% 3/96
Attention deficit hyperactivity disorder 2.1% 2/96
Autism 2.1% 2/96
Difficulty walking 2.1% 2/96
Gait apraxia 2.1% 2/96
Generalized myoclonic seizures 2.1% 2/96
Hypoplasia of the corpus callosum 2.1% 2/96
Intellectual disability, mild 2.1% 2/96
Muscular hypotonia of the trunk 2.1% 2/96
Myoclonic atonic seizures 2.1% 2/96
Neurodevelopmental delay 2.1% 2/96
Receptive language delay 2.1% 2/96
Abnormal muscle tone 1.0% 1/96
Absent Achilles reflex 1.0% 1/96
Agenesis of corpus callosum 1.0% 1/96
Aphasia 1.0% 1/96
Arachnoid cyst 1.0% 1/96
Atonic seizures 1.0% 1/96
Bowel incontinence 1.0% 1/96
Brachial plexus neuropathy 1.0% 1/96
Bulbar palsy 1.0% 1/96
Chorea 1.0% 1/96
Cognitive impairment 1.0% 1/96
Cranial nerve VI palsy 1.0% 1/96
Delayed cranial suture closure 1.0% 1/96
Dolichocephaly 1.0% 1/96
EEG with generalized epileptiform discharges 1.0% 1/96
Epileptic spasms 1.0% 1/96
Episodic generalized hypotonia 1.0% 1/96
Esotropia 1.0% 1/96
Exaggerated startle response 1.0% 1/96
Excessive femoral anteversion 1.0% 1/96
Facial grimacing 1.0% 1/96
Focal clonic seizures 1.0% 1/96
Gait ataxia 1.0% 1/96
Generalized hypotrichosis 1.0% 1/96
Hydrocephalus 1.0% 1/96
Inability to walk by childhood/adolescence 1.0% 1/96
Increased intracranial pressure 1.0% 1/96
Intellectual disability 1.0% 1/96
Joint hyperflexibility 1.0% 1/96
Ligamentous laxity 1.0% 1/96
Microphthalmia 1.0% 1/96
Migraine 1.0% 1/96
Mild global developmental delay 1.0% 1/96
Moderate receptive language delay 1.0% 1/96
Motor deterioration 1.0% 1/96
Muscle stiffness 1.0% 1/96
Muscular hypotonia 1.0% 1/96
Myoclonic spasms 1.0% 1/96
Myotonia 1.0% 1/96
Pain insensitivity 1.0% 1/96
Partial absence of the septum pellucidum 1.0% 1/96
Periventricular leukomalacia 1.0% 1/96
Plagiocephaly 1.0% 1/96
Poor gross motor coordination 1.0% 1/96
Profound global developmental delay 1.0% 1/96
Recurrent hand flapping 1.0% 1/96
Repetitive compulsive behavior 1.0% 1/96
Sensory impairment 1.0% 1/96
Severe receptive language delay 1.0% 1/96
Spasticity 1.0% 1/96
Spina bifida occulta 1.0% 1/96
Stereotypic behavior 1.0% 1/96
Stroke 1.0% 1/96
Tremor 1.0% 1/96
Unsteady gait 1.0% 1/96
Vocal cord paralysis 1.0% 1/96
Behavioral problems 94.0% 78/83
Poor eye contact 33.7% 28/83
Absent speech 31.3% 26/83
Short attention span 28.9% 24/83
Delayed speech and language development 22.9% 19/83
Aggressive behavior 21.7% 18/83
Hyperactivity 20.5% 17/83
Attention deficit hyperactivity disorder 18.1% 15/83
Autistic behavior 18.1% 15/83
Self-biting 15.7% 13/83
Anxiety 13.3% 11/83
Agitation 12.0% 10/83
Repetitive compulsive behavior 12.0% 10/83
Self-injurious behavior 12.0% 10/83
Autism 9.6% 8/83
Impulsivity 9.6% 8/83
Low frustration tolerance 8.4% 7/83
Irritability 7.2% 6/83
Stereotypic behavior 7.2% 6/83
Global developmental delay 6.0% 5/83
Head-banging 6.0% 5/83
Intellectual disability, profound 6.0% 5/83
Obsessive-compulsive behavior 6.0% 5/83
Sensory impairment 6.0% 5/83
Drooling 4.8% 4/83
Expressive language delay 4.8% 4/83
Hair-pulling 4.8% 4/83
Moderate global developmental delay 4.8% 4/83
Receptive language delay 4.8% 4/83
Abnormal aggressive, impulsive or violent behavior 3.6% 3/83
Developmental regression 3.6% 3/83
Intellectual disability 3.6% 3/83
Recurrent hand flapping 3.6% 3/83
Sleep disturbance 3.6% 3/83
Specific learning disability 3.6% 3/83
Mood swings 2.4% 2/83
Oppositional defiant disorder 2.4% 2/83
Poor coordination 2.4% 2/83
Restlessness 2.4% 2/83
Self-mutilation 2.4% 2/83
Stereotypical hand wringing 2.4% 2/83
Violent behavior 2.4% 2/83
Abnormal eating behavior 1.2% 1/83
Behavioral abnormality 1.2% 1/83
Broad-based gait 1.2% 1/83
Cognitive impairment 1.2% 1/83
Conspicuously happy disposition 1.2% 1/83
Delayed social development 1.2% 1/83
Difficulty standing 1.2% 1/83
Dysgraphia 1.2% 1/83
Emotional lability 1.2% 1/83
Generalized hypotonia 1.2% 1/83
Impaired visuospatial constructive cognition 1.2% 1/83
Intellectual disability, severe 1.2% 1/83
Motor tics 1.2% 1/83
Nail-biting 1.2% 1/83
Phonic tics 1.2% 1/83
Pica 1.2% 1/83
Poor fine motor coordination 1.2% 1/83
Sensory neuropathy 1.2% 1/83
Severe receptive language delay 1.2% 1/83
Slurred speech 1.2% 1/83
Socially inappropriate behavior 1.2% 1/83
Toe walking 1.2% 1/83
Brain abnormality 70.9% 56/79
Periventricular leukomalacia 19.0% 15/79
Hypoplasia of the corpus callosum 17.7% 14/79
Ventriculomegaly 17.7% 14/79
Aplasia/Hypoplasia of the corpus callosum 8.9% 7/79
Abnormality of the periventricular white matter 7.6% 6/79
Agenesis of corpus callosum 3.8% 3/79
Cerebral atrophy 3.8% 3/79
EEG abnormality 3.8% 3/79
Hydrocephalus 3.8% 3/79
Abnormality of the cerebral white matter 2.5% 2/79
Aplasia/Hypoplasia of the cerebral white matter 2.5% 2/79
Arachnoid cyst 2.5% 2/79
Central nervous system cyst 2.5% 2/79
Cephalohematoma 2.5% 2/79
Cerebellar vermis hypoplasia 2.5% 2/79
Gliosis 2.5% 2/79
Hypointensity of cerebral white matter on MRI 2.5% 2/79
Intracranial hemorrhage 2.5% 2/79
Widened subarachnoid space 2.5% 2/79
Abnormality of the fourth ventricle 1.3% 1/79
Absent septum pellucidum 1.3% 1/79
Aplasia/Hypoplasia of the cerebellar vermis 1.3% 1/79
Cerebral cortical atrophy 1.3% 1/79
Colpocephaly 1.3% 1/79
Communicating hydrocephalus 1.3% 1/79
Delayed closure of the anterior fontanelle 1.3% 1/79
Diffuse demyelination of the cerebral white matter 1.3% 1/79
Dilation of lateral ventricles 1.3% 1/79
EEG with generalized spikes 1.3% 1/79
Encephalomalacia 1.3% 1/79
Enlarged cisterna magna 1.3% 1/79
Extra-axial cerebrospinal fluid accumulation 1.3% 1/79
Focal T2 hyperintense basal ganglia lesion 1.3% 1/79
Hypodysplasia of the corpus callosum 1.3% 1/79
Hypoplasia of the brainstem 1.3% 1/79
Intracranial cystic lesion 1.3% 1/79
Limbic malformations 1.3% 1/79
Medulloblastoma 1.3% 1/79
Microcephaly 1.3% 1/79
Mild fetal ventriculomegaly 1.3% 1/79
Multiple suture craniosynostosis 1.3% 1/79
Noncommunicating hydrocephalus 1.3% 1/79
Periventricular cysts 1.3% 1/79
Small pituitary gland 1.3% 1/79
Stroke 1.3% 1/79
Subcortical white matter calcifications 1.3% 1/79
Venous thrombosis 1.3% 1/79
Wide anterior fontanel 1.3% 1/79
Facial abnormalities    
Abnormality of the ear 57.3% 51/89
Low-set ears 34.8% 31/89
Large fleshy ears 5.6% 5/89
Prominent ear helix 5.6% 5/89
Auricular tag 4.5% 4/89
Abnormality of the pinna 2.2% 2/89
Bilateral sensorineural hearing impairment 2.2% 2/89
Chronic otitis media 2.2% 2/89
Hearing impairment 2.2% 2/89
Low-set, posteriorly rotated ears 2.2% 2/89
Protruding ear 2.2% 2/89
Abnormality of inferior crus of antihelix 1.1% 1/89
Auricular pit 1.1% 1/89
Blocked Eustachian tube 1.1% 1/89
Cupped ear 1.1% 1/89
Large earlobe 1.1% 1/89
Long ear 1.1% 1/89
Otitis media 1.1% 1/89
Overfolding of the superior helices 1.1% 1/89
Posteriorly rotated ears 1.1% 1/89
Preauricular pit 1.1% 1/89
Prominent crus of helix 1.1% 1/89
Recurrent otitis media 1.1% 1/89
Short columella 1.1% 1/89
Small palpebral fissure 1.1% 1/89
Stenosis of the external auditory canal 1.1% 1/89
Uplifted earlobe 1.1% 1/89
Abnormality of the eye 91.4% 85/93
Long eyelashes 39.8% 37/93
Thick eyebrow 37.6% 35/93
Large eyes 22.6% 21/93
Hypertelorism 19.4% 18/93
Downslanted palpebral fissures 17.2% 16/93
Astigmatism 15.1% 14/93
Strabismus 14.0% 13/93
Cortical visual impairment 9.7% 9/93
Myopia 8.6% 8/93
Prominent eyelashes 8.6% 8/93
Highly arched eyebrow 7.5% 7/93
Prominent epicanthal folds 7.5% 7/93
Synophrys 7.5% 7/93
Deeply set eye 6.5% 6/93
Exotropia 6.5% 6/93
Amblyopia 5.4% 5/93
Anophthalmia 5.4% 5/93
Blindness 5.4% 5/93
Horizontal eyebrow 5.4% 5/93
Hypermetropia 5.4% 5/93
Esotropia 4.3% 4/93
Long eyebrows 4.3% 4/93
Nystagmus 4.3% 4/93
Microphthalmia 3.2% 3/93
Unilateral strabismus 3.2% 3/93
Abnormality of the eyelid 2.2% 2/93
Aplasia/Hypoplasia of the optic nerve 2.2% 2/93
Microcornea 2.2% 2/93
Optic nerve aplasia 2.2% 2/93
Ptosis 2.2% 2/93
Severe Myopia 2.2% 2/93
Abnormality of corneal size 1.1% 1/93
Almond-shaped palpebral fissure 1.1% 1/93
Aplasia/Hypoplasia affecting the eye 1.1% 1/93
Bilateral ptosis 1.1% 1/93
Congenital visual impairment 1.1% 1/93
Divergence nystagmus 1.1% 1/93
Eyelid myoclonias 1.1% 1/93
Facial asymmetry 1.1% 1/93
Hyperopic astigmatism 1.1% 1/93
Hypotelorism 1.1% 1/93
Keratoconus 1.1% 1/93
Lacrimal duct aplasia 1.1% 1/93
Long palpebral fissure 1.1% 1/93
Low frustration tolerance 1.1% 1/93
Medial flaring of the eyebrow 1.1% 1/93
Microcephaly 1.1% 1/93
Oculomotor apraxia 1.1% 1/93
Persistent pupillary membrane 1.1% 1/93
Prominent forehead 1.1% 1/93
Short palpebral fissure 1.1% 1/93
Small palpebral fissure 1.1% 1/93
Upslanted palpebral fissure 1.1% 1/93
Abnormality of the nose 80.5% 66/82
Wide nasal bridge 42.7% 35/82
Prominent nasal tip 39.0% 32/82
Broad nasal tip 18.3% 15/82
Anteverted nares 11.0% 9/82
Depressed nasal bridge 3.7% 3/82
Short nose 3.7% 3/82
Wide nasal base 3.7% 3/82
Abnormality of the nasal bridge 2.4% 2/82
Bulbous nose 2.4% 2/82
Flared nostrils 2.4% 2/82
Primitive reflexes (palmomental, snout, glabellar) 2.4% 2/82
Abnormality of the nasal alae 1.2% 1/82
Deviated nasal septum 1.2% 1/82
Increased size of nasopharyngeal adenoids 1.2% 1/82
Large beaked nose 1.2% 1/82
Long philtrum 1.2% 1/82
Narrow nasal bridge 1.2% 1/82
Short columella 1.2% 1/82
Thick nasal alae 1.2% 1/82
Abnormality of the mouth 82.6% 71/86
High palate 26.7% 23/86
Short philtrum 12.8% 11/86
Thin upper lip vermilion 12.8% 11/86
Long philtrum 10.5% 9/86
Abnormality of upper lip vermillion 8.1% 7/86
Drooling 8.1% 7/86
Micrognathia 8.1% 7/86
Broad philtrum 7.0% 6/86
Tented philtrum 7.0% 6/86
Ankyloglossia 5.8% 5/86
Full cheeks 5.8% 5/86
High, narrow palate 5.8% 5/86
Thin vermilion border 5.8% 5/86
Abnormality of the tongue 4.7% 4/86
Bruxism 4.7% 4/86
Microretrognathia 4.7% 4/86
Tented upper lip vermilion 4.7% 4/86
Widely spaced teeth 4.7% 4/86
Wide mouth 4.7% 4/86
Deep philtrum 3.5% 3/86
Macrodontia 3.5% 3/86
Retrognathia 3.5% 3/86
Short chin 3.5% 3/86
Smooth philtrum 3.5% 3/86
Thick upper lip vermilion 3.5% 3/86
Abnormality of the lip 2.3% 2/86
Carious teeth 2.3% 2/86
Coarse facial features 2.3% 2/86
Delayed eruption of primary teeth 2.3% 2/86
Dental malocclusion 2.3% 2/86
Gingival overgrowth 2.3% 2/86
Irregularly spaced teeth 2.3% 2/86
Abnormality of the gingiva 1.2% 1/86
Agenesis of molar 1.2% 1/86
Bifid uvula 1.2% 1/86
Compensatory chin elevation 1.2% 1/86
Crowded maxillary incisors 1.2% 1/86
Dental crowding 1.2% 1/86
Diastema 1.2% 1/86
Double tooth 1.2% 1/86
Downturned corners of mouth 1.2% 1/86
Exaggerated median tongue furrow 1.2% 1/86
Horizontal eyebrow 1.2% 1/86
Hypoplasia of teeth 1.2% 1/86
Long upper lip 1.2% 1/86
Macroglossia 1.2% 1/86
Misalignment of teeth 1.2% 1/86
Narrow palate 1.2% 1/86
Overbite 1.2% 1/86
Persistence of primary teeth 1.2% 1/86
Pointed chin 1.2% 1/86
Poor suck 1.2% 1/86
Premature loss of permanent teeth 1.2% 1/86
Pursed lips 1.2% 1/86
Tongue thrusting 1.2% 1/86
Torticollis 1.2% 1/86
Visual and hearing impairments    
Abnormal hearing 27.9% 19/68
Hearing impairment 13.2% 9/68
Bilateral sensorineural hearing impairment 2.9% 2/68
Conductive hearing impairment 2.9% 2/68
Mild hearing impairment 2.9% 2/68
Bilateral conductive hearing impairment 1.5% 1/68
Chronic otitis media 1.5% 1/68
Hearing abnormality 1.5% 1/68
Low-set ears 1.5% 1/68
Otitis media 1.5% 1/68
Recurrent otitis media 1.5% 1/68
Sensorineural hearing impairment 1.5% 1/68
Unilateral deafness 1.5% 1/68
Abnormal vision 77.8% 63/81
Astigmatism 37.0% 30/81
Myopia 18.5% 15/81
Strabismus 18.5% 15/81
Cortical visual impairment 16.0% 13/81
Exotropia 11.1% 9/81
Amblyopia 9.9% 8/81
Blindness 8.6% 7/81
Hypermetropia 7.4% 6/81
Esotropia 6.2% 5/81
Nystagmus 6.2% 5/81
Anophthalmia 4.9% 4/81
Abnormality of vision 3.7% 3/81
Hyperopic astigmatism 3.7% 3/81
Abnormality of the optic nerve 2.5% 2/81
Anisometropia 2.5% 2/81
Optic nerve aplasia 2.5% 2/81
Ptosis 2.5% 2/81
Severe Myopia 2.5% 2/81
Visual impairment 2.5% 2/81
Aplasia/Hypoplasia of the optic nerve 1.2% 1/81
Chorioretinal hyperpigmentation 1.2% 1/81
Congenital visual impairment 1.2% 1/81
Extension of hair growth on temples to lateral eyebrow 1.2% 1/81
Hypertelorism 1.2% 1/81
Impaired convergence 1.2% 1/81
Microphthalmia 1.2% 1/81
Oculomotor apraxia 1.2% 1/81
Optic neuropathy 1.2% 1/81
Unilateral strabismus 1.2% 1/81
Heart    
Abnormality of the heart 63.4% 59/93
Prolonged QT interval 18.3% 17/93
Atria septal defect 10.8% 10/93
Hypertrophic cardiomyopathy 9.7% 9/93
Ventricular septal defect 9.7% 9/93
Heart murmur 8.6% 8/93
Cardiac arrest 6.5% 6/93
Patent ductus arteriosus 5.4% 5/93
Pulmonary hypertension 5.4% 5/93
Supraventricular tachycardia 5.4% 5/93
Tachycardia 5.4% 5/93
Cardiomegaly 4.3% 4/93
Left ventricular hypertrophy 4.3% 4/93
Patent foramen ovale 4.3% 4/93
Primum atrial septal defect 4.3% 4/93
Ventricular hypertrophy 4.3% 4/93
Asymmetric septal hypertrophy 3.2% 3/93
Bicuspid aortic valve 3.2% 3/93
Bradycardia 3.2% 3/93
Pericardial effusion 3.2% 3/93
Pulmonary artery stenosis 3.2% 3/93
Right ventricular hypertrophy 3.2% 3/93
Abnormality of the left ventricular outflow tract 2.2% 2/93
Arrhythmia 2.2% 2/93
Arterial stenosis 2.2% 2/93
Atrial fibrillation 2.2% 2/93
Episodic fatigue 2.2% 2/93
Left ventricular septal hypertrophy 2.2% 2/93
Mitral regurgitation 2.2% 2/93
Perimembranous ventricular septal defect 2.2% 2/93
Right bundle branch block 2.2% 2/93
Subaortic stenosis 2.2% 2/93
Abnormality of the tricuspid valve 1.1% 1/93
Anomalous muscle bundle of the right ventricle 1.1% 1/93
Aortic root dilatation 1.1% 1/93
Atrial septal aneurysm 1.1% 1/93
Bicuspid pulmonary valve 1.1% 1/93
Bundle branch block 1.1% 1/93
Cardiogenic shock 1.1% 1/93
Congenital septal defect 1.1% 1/93
Dilated cardiomyopathy 1.1% 1/93
Impaired left ventricular function 1.1% 1/93
Left superior vena cava draining to coronary sinus 1.1% 1/93
Pulmonary artery dilatation 1.1% 1/93
Right ventricular dilatation 1.1% 1/93
Secundum atrial septal defect 1.1% 1/93
Sinus tachycardia 1.1% 1/93
Tachypnea 1.1% 1/93
Tetralogy of Fallot with pulmonary stenosis 1.1% 1/93
Torsade de pointes 1.1% 1/93
Tricuspid regurgitation 1.1% 1/93
Ventricular fibrillation 1.1% 1/93
Pulmonary    
Abnormality of the lungs 50.0% 2/4
Aspiration 25.0% 1/4
Respiratory distress 25.0% 1/4
Gastrointestinal    
Gastrointestinal abnormalities 97.7% 85/87
Feeding difficulties in infancy 67.8% 59/87
Feeding difficulties 47.1% 41/87
Dysphagia 31.0% 27/87
Gastroesophageal reflux 25.3% 22/87
Bowel incontinence 14.9% 13/87
Episodic vomiting 14.9% 13/87
Gastrostomy tube feeding in infancy 14.9% 13/87
Nasogastric tube feeding in infancy 11.5% 10/87
Constipation 10.3% 9/87
Poor suck 10.3% 9/87
Chronic constipation 9.2% 8/87
Diarrhea 8.0% 7/87
Esophagitis 6.9% 6/87
Food intolerance 6.9% 6/87
Vomiting 5.7% 5/87
Abnormality of the esophagus 4.6% 4/87
Gastrointestinal dysmotility 4.6% 4/87
Prolonged neonatal jaundice 4.6% 4/87
Celiac disease 3.4% 3/87
Laryngomalacia 3.4% 3/87
Pyloric stenosis 3.4% 3/87
Abdominal pain 2.3% 2/87
Abnormality of the gastrointestinal tract 2.3% 2/87
Aspiration 2.3% 2/87
Decreased body weight 2.3% 2/87
Failure to thrive 2.3% 2/87
Fatigable weakness of swallowing muscles 2.3% 2/87
Inguinal hernia 2.3% 2/87
Oral-pharyngeal dysphagia 2.3% 2/87
Poor appetite 2.3% 2/87
Recurrent aspiration pneumonia 2.3% 2/87
Abdominal distention 1.1% 1/87
Aganglionic megacolon 1.1% 1/87
Congenital diaphragmatic hernia 1.1% 1/87
Cow milk allergy 1.1% 1/87
Drooling 1.1% 1/87
Dysphasia 1.1% 1/87
Episodic abdominal pain 1.1% 1/87
Esophageal stenosis 1.1% 1/87
Failure to thrive in infancy 1.1% 1/87
Fat malabsorption 1.1% 1/87
Graves disease 1.1% 1/87
Hepatic cysts 1.1% 1/87
Intermittent diarrhea 1.1% 1/87
Lactose intolerance 1.1% 1/87
Long-segment aganglionic megacolon 1.1% 1/87
Nausea 1.1% 1/87
Pneumonia 1.1% 1/87
Projectile vomiting 1.1% 1/87
Rectal prolapse 1.1% 1/87
Umbilical hernia 1.1% 1/87
Urogenital    
Abnormality of the urogenital system 42.3% 33/78
Cryptorchidism 6.4% 5/78
Recurrent urinary tract infections 6.4% 5/78
Micropenis 3.8% 3/78
Precocious puberty in females 3.8% 3/78
Hydrocele testis 2.6% 2/78
Hypospadias 2.6% 2/78
Precocious puberty 2.6% 2/78
Urinary incontinence 2.6% 2/78
Abnormality of the menstrual cycle 1.3% 1/78
Bifid scrotum 1.3% 1/78
Clitoral hypertrophy 1.3% 1/78
Decreased glomerular filtration rate 1.3% 1/78
Dilatation of the renal pelvis 1.3% 1/78
Dysmenorrhea 1.3% 1/78
Enlarged kidneys 1.3% 1/78
Functional abnormality of the bladder 1.3% 1/78
Hirsutism 1.3% 1/78
Localized hirsutism 1.3% 1/78
Menorrhagia 1.3% 1/78
Multiple renal cysts 1.3% 1/78
Neurogenic bladder 1.3% 1/78
Polycystic kidney dysplasia 1.3% 1/78
Premature thelarche 1.3% 1/78
Renal duplication 1.3% 1/78
Ureter duplex 1.3% 1/78
Skeleton    
Skeletal abnormalities 97.8% 91/93
Short stature 34.4% 32/93
Microcephaly 30.1% 28/93
Pectus excavatum 19.4% 18/93
Scoliosis 16.1% 15/93
Toe walking 16.1% 15/93
Short foot 15.1% 14/93
Small hand 12.9% 12/93
Hip dysplasia 10.8% 10/93
Pes planus 10.8% 10/93
Slender finger 9.7% 9/93
Delayed closure of the anterior fontanelle 8.6% 8/93
Gait disturbance 8.6% 8/93
Generalized hypotonia 7.5% 7/93
Tapered finger 7.5% 7/93
Broad forehead 6.5% 6/93
Neonatal hypotonia 6.5% 6/93
Clinodactyly 5.4% 5/93
Slender build 5.4% 5/93
Achilles tendon contracture 4.3% 4/93
Clinodactyly of the 5th finger 4.3% 4/93
Large fontanelles 4.3% 4/93
Mild short stature 4.3% 4/93
Torticollis 4.3% 4/93
2-3 toe syndactyly 4.3% 4/93
Abnormality of fontanelles 3.2% 3/93
Acetabular dysplasia 3.2% 3/93
Barrel-shaped chest 3.2% 3/93
Inability to walk 3.2% 3/93
Muscular hypotonia of the trunk 3.2% 3/93
Plagiocephaly 3.2% 3/93
Postnatal growth retardation 3.2% 3/93
Prominent forehead 3.2% 3/93
Sacral dimple 3.2% 3/93
Short chin 3.2% 3/93
Abnormal muscle tone 2.2% 2/93
Absent palmar crease 2.2% 2/93
Appendicular hypotonia 2.2% 2/93
Bilateral talipes equinovarus 2.2% 2/93
Broad toe 2.2% 2/93
Clubbing of toes 2.2% 2/93
Craniosynostosis 2.2% 2/93
Cutis marmorata 2.2% 2/93
Excessive femoral anteversion 2.2% 2/93
Full cheeks 2.2% 2/93
Hyperextensibility of the finger joints 2.2% 2/93
Infantile muscular hypotonia 2.2% 2/93
Joint hypermobility 2.2% 2/93
Limb hypertonia 2.2% 2/93
Lumbar kyphosis 2.2% 2/93
Narrow foot 2.2% 2/93
Overlapping toe 2.2% 2/93
Pectus carinatum 2.2% 2/93
Prominent fingertip pads 2.2% 2/93
Sandal gap 2.2% 2/93
Single transverse palmar crease 2.2% 2/93
Supernumerary ribs 2.2% 2/93
Toe syndactyly 2.2% 2/93
2-4 finger syndactyly 2.2% 2/93
Abnormality of the occipital bone 1.1% 1/93
Ankle clonus 1.1% 1/93
Anterior beaking of lumbar vertebrae 1.1% 1/93
Brachycephaly 1.1% 1/93
Brisk reflexes 1.1% 1/93
Broad-based gait 1.1% 1/93
Camptodactyly of finger 1.1% 1/93
Childhood onset short-limb short stature 1.1% 1/93
Clinodactyly of the 2nd toe 1.1% 1/93
Coxa valga 1.1% 1/93
Deep palmar crease 1.1% 1/93
Dolichocephaly 1.1% 1/93
Dysphagia 1.1% 1/93
Enlarged joints 1.1% 1/93
Equinovarus deformity 1.1% 1/93
Finger syndactyly 1.1% 1/93
Frequent falls 1.1% 1/93
Frontal bossing 1.1% 1/93
Gait ataxia 1.1% 1/93
Generalized neonatal hypotonia 1.1% 1/93
Hallux varus 1.1% 1/93
Hip dislocation 1.1% 1/93
Hydrocephalus 1.1% 1/93
Hyperactive deep tendon reflexes 1.1% 1/93
Hypoplastic nipples 1.1% 1/93
Inguinal hernia 1.1% 1/93
Kyphosis 1.1% 1/93
Lumbar scoliosis 1.1% 1/93
Macrocephaly 1.1% 1/93
Marked delay in bone age 1.1% 1/93
Medial rotation of the medial malleolus 1.1% 1/93
Metopic synostosis 1.1% 1/93
Mild microcephaly 1.1% 1/93
Multiple joint contractures 1.1% 1/93
Muscle stiffness 1.1% 1/93
Myoclonus 1.1% 1/93
Neonatal respiratory distress 1.1% 1/93
Osteopenia 1.1% 1/93
Pectus excavatum of inferior sternum 1.1% 1/93
Pes cavus 1.1% 1/93
Radial deviation of thumb terminal phalanx 1.1% 1/93
Retrognathia 1.1% 1/93
Scapular winging 1.1% 1/93
Severe short-limb dwarfism 1.1% 1/93
Short toe 1.1% 1/93
Small finger 1.1% 1/93
Spastic paraplegia 1.1% 1/93
Spina bifida occulta 1.1% 1/93
Superior pectus carinatum 1.1% 1/93
Talipes equinovarus 1.1% 1/93
Thoracolumbar kyphoscoliosis 1.1% 1/93
Vertebral compression fractures 1.1% 1/93
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 79.7% 63/79
Mottled pigmentation 34.2% 27/79
Hirsutism 21.5% 17/79
Sparse anterior scalp hair 12.7% 10/79
Coarse hair 10.1% 8/79
Eczema 8.9% 7/79
Low anterior hairline 6.3% 5/79
Prominent fingertip pads 6.3% 5/79
Dry skin 5.1% 4/79
Thin skin 5.1% 4/79
Acne 3.8% 3/79
Excessive wrinkled skin 3.8% 3/79
Abnormally lax or hyperextensible skin 2.5% 2/79
Cutis marmorata 2.5% 2/79
Eczematoid dermatitis 2.5% 2/79
Thick hair 2.5% 2/79
Abnormal hair whorl 1.3% 1/79
Alopecia 1.3% 1/79
Aplasia/Hypoplasia of the nipples 1.3% 1/79
Atopic dermatitis 1.3% 1/79
Auricular tag 1.3% 1/79
Broad forehead 1.3% 1/79
Bruising susceptibility 1.3% 1/79
Coarse facial features 1.3% 1/79
Decreased subcutaneous fat 1.3% 1/79
Dry hair 1.3% 1/79
Facial hirsutism 1.3% 1/79
Frontal hirsutism 1.3% 1/79
Hypertrichosis 1.3% 1/79
Hypoplastic toenails 1.3% 1/79
Low posterior hairline 1.3% 1/79
Nevus 1.3% 1/79
Short foot 1.3% 1/79
Single transverse palmar crease 1.3% 1/79
Skin-picking 1.3% 1/79
Slender build 1.3% 1/79
Sparse scalp hair 1.3% 1/79
Supernumerary nipple 1.3% 1/79
3-4 finger syndactyly 1.3% 1/79
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 43.1% 31/72
Hirsutism 16.7% 12/72
Precocious puberty 5.6% 4/72
Precocious puberty in females 4.2% 3/72
Hypoglycemia 2.8% 2/72
Premature thelarche 2.8% 2/72
Abnormality of temperature regulation 1.4% 1/72
Adrenal gland agenesis 1.4% 1/72
Bowel incontinence 1.4% 1/72
Breast hypoplasia 1.4% 1/72
Decreased circulating cortisol level 1.4% 1/72
Diabetes mellitus 1.4% 1/72
Facial hirsutism 1.4% 1/72
Fatigue 1.4% 1/72
Frontal hirsutism 1.4% 1/72
Graves disease 1.4% 1/72
Growth hormone deficiency 1.4% 1/72
Hypercalcemia 1.4% 1/72
Increased serum testosterone level 1.4% 1/72
Menorrhagia 1.4% 1/72
Neonatal hypoglycemia 1.4% 1/72
Pituitary dwarfism 1.4% 1/72
Premature adrenarche 1.4% 1/72
Shield chest 1.4% 1/72
Sleep disturbance 1.4% 1/72
Urinary incontinence 1.4% 1/72
Abnormality of the metabolic system 90.2% 74/82
Abnormality of temperature regulation 35.4% 29/82
Slender build 30.5% 25/82
Sleep disturbance 29.3% 24/82
Neonatal respiratory distress 15.9% 13/82
Pneumonia 12.2% 10/82
Failure to thrive 8.5% 7/82
Absence of subcutaneous fat 7.3% 6/82
Episodic fatigue 7.3% 6/82
Apnea 6.1% 5/82
Pica 6.1% 5/82
Allergy 4.9% 4/82
Asthma 4.9% 4/82
Bowel incontinence 4.9% 4/82
Bronchiolitis 4.9% 4/82
Iron deficiency anemia 4.9% 4/82
Sleep apnea 4.9% 4/82
Cyanosis 3.7% 3/82
Decreased subcutaneous fat 3.7% 3/82
Dyspnea 3.7% 3/82
Hypoglycemia 3.7% 3/82
Abnormality of subcutaneous fat tissue 2.4% 2/82
Breathing dysregulation 2.4% 2/82
Bruising susceptibility 2.4% 2/82
Chronic fatigue 2.4% 2/82
Cyanotic episode 2.4% 2/82
Decreased body weight 2.4% 2/82
Easy fatigability 2.4% 2/82
Epistaxis 2.4% 2/82
Failure to thrive in infancy 2.4% 2/82
Fatigue 2.4% 2/82
Hypertension 2.4% 2/82
Interstitial pulmonary disease 2.4% 2/82
Intrauterine growth retardation 2.4% 2/82
Pulmonary hypoplasia 2.4% 2/82
Recurrent upper respiratory tract infections 2.4% 2/82
Red desaturation 2.4% 2/82
Respiratory failure requiring assisted ventilation 2.4% 2/82
Small for gestational age 2.4% 2/82
Tachypnea 2.4% 2/82
Abnormality of pain sensation 1.2% 1/82
Anemia 1.2% 1/82
Ankle swelling 1.2% 1/82
Aspiration 1.2% 1/82
Bleeding with minor or no trauma 1.2% 1/82
Blood group antigen abnormality 1.2% 1/82
Bronchomalacia 1.2% 1/82
Cardiorespiratory arrest 1.2% 1/82
Cellulitis 1.2% 1/82
Cough 1.2% 1/82
Death in infancy 1.2% 1/82
Decreased pulmonary function 1.2% 1/82
Duplication of renal pelvis 1.2% 1/82
Edema 1.2% 1/82
Elevated alkaline phosphatase 1.2% 1/82
Episodic tachypnea 1.2% 1/82
Fever 1.2% 1/82
Hydronephrosis 1.2% 1/82
Hyperhidrosis 1.2% 1/82
Infantile hypercalcemia 1.2% 1/82
Insomnia 1.2% 1/82
Jaundice 1.2% 1/82
Laryngotracheomalacia 1.2% 1/82
Lethargy 1.2% 1/82
Meconium stained amniotic fluid 1.2% 1/82
Neonatal breathing dysregulation 1.2% 1/82
Obstructive sleep apnea 1.2% 1/82
Oligohydramnios 1.2% 1/82
Omphalocele 1.2% 1/82
Pain insensitivity 1.2% 1/82
Pleural effusion 1.2% 1/82
Postnatal growth retardation 1.2% 1/82
Prolonged bleeding following procedure 1.2% 1/82
Pulmonary lymphangiectasia 1.2% 1/82
Recurrent respiratory infections 1.2% 1/82
Respiratory arrest 1.2% 1/82
Restrictive lung disease 1.2% 1/82
Severe failure to thrive 1.2% 1/82
Slender finger 1.2% 1/82
Stridor 1.2% 1/82
Tracheobronchomalacia 1.2% 1/82
Type II diabetes mellitus 1.2% 1/82
Abnormality of the immune system 31.1% 19/61
Allergy 13.1% 8/61
Cow milk allergy 8.2% 5/61
Recurrent respiratory infections 4.9% 3/61
Recurrent infections 3.3% 2/61
Apnea 1.6% 1/61
Chronic otitis media 1.6% 1/61
Easy fatigability 1.6% 1/61
Food intolerance 1.6% 1/61
Leukopenia 1.6% 1/61
Neonatal sepsis 1.6% 1/61
Otitis media 1.6% 1/61
Recurrent otitis media 1.6% 1/61
Unexplained fevers 1.6% 1/61
Neoplasia    
Neoplasia 2.2% 2/93
Abnormality of the mediastinum 1.1% 1/93
Leukemia 1.1% 1/93
Medulloblastoma 1.1% 1/93