NAA10
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 37.5% | 42/112 |
| Female | 62.5% | 70/112 |
| Indifferent | 0% | 0/112 |
| Unknown | 0% | 0/112 |
| General | ||
| Birth Length abnormalities | 28.6% | 42/147 |
| < P3 : Birth length less than 3rd percentile | 28.6% | 42/147 |
| Birth Weight abnormalities | 33.8% | 51/151 |
| < P3 : Small for gestational age | 31.8% | 48/151 |
| > P98 : Large for gestational age | 2.0% | 3/151 |
| Birth Head circumference abnormalities | 33.6% | 49/146 |
| < P3 : Congenital microcephaly | 33.6% | 49/146 |
| Current Height abnormalities | 39.6% | 59/149 |
| < P3 : Short stature | 37.6% | 56/149 |
| > P98 : Tall stature | 2.0% | 3/149 |
| Current Weight abnormalities | 34.9% | 53/152 |
| < P3 : Decreased body weight | 34.9% | 53/152 |
| Current Head circumference abnormalities | 43.6% | 65/149 |
| < P3 : Microcephaly | 43.0% | 64/149 |
| > P98 : Macrocephaly | 0.7% | 1/149 |
| Neurology | ||
| Neurological abnormalities | 98.2% | 108/110 |
| Severe global developmental delay | 38.2% | 42/110 |
| Motor delay | 34.5% | 38/110 |
| Delayed speech and language development | 33.6% | 37/110 |
| Global developmental delay | 26.4% | 29/110 |
| Generalized hypotonia | 25.5% | 28/110 |
| Gait disturbance | 23.6% | 26/110 |
| Seizures | 20.0% | 22/110 |
| Neonatal hypotonia | 14.5% | 16/110 |
| Moderate global developmental delay | 12.7% | 14/110 |
| Delayed fine motor development | 11.8% | 13/110 |
| Poor fine motor coordination | 11.8% | 13/110 |
| Absent speech | 10.0% | 11/110 |
| Microcephaly | 9.1% | 10/110 |
| Poor coordination | 7.3% | 8/110 |
| Toe walking | 7.3% | 8/110 |
| Delayed gross motor development | 6.4% | 7/110 |
| Gait imbalance | 5.5% | 6/110 |
| Generalized neonatal hypotonia | 5.5% | 6/110 |
| Absence seizures | 4.5% | 5/110 |
| Developmental regression | 4.5% | 5/110 |
| Expressive language delay | 4.5% | 5/110 |
| Frequent falls | 4.5% | 5/110 |
| Inability to walk | 4.5% | 5/110 |
| Poor motor coordination | 4.5% | 5/110 |
| Apraxia | 3.6% | 4/110 |
| Broad-based gait | 3.6% | 4/110 |
| Cerebral palsy | 3.6% | 4/110 |
| EEG abnormality | 3.6% | 4/110 |
| Generalized tonic-clonic seizures | 3.6% | 4/110 |
| Dystonia | 2.7% | 3/110 |
| Hemiparesis | 2.7% | 3/110 |
| Infantile axial hypotonia | 2.7% | 3/110 |
| Infantile muscular hypotonia | 2.7% | 3/110 |
| Intellectual disability, profound | 2.7% | 3/110 |
| Intellectual disability, severe | 2.7% | 3/110 |
| Limb hypertonia | 2.7% | 3/110 |
| Myoclonus | 2.7% | 3/110 |
| Ventriculomegaly | 2.7% | 3/110 |
| Attention deficit hyperactivity disorder | 1.8% | 2/110 |
| Autism | 1.8% | 2/110 |
| Difficulty standing | 1.8% | 2/110 |
| Difficulty walking | 1.8% | 2/110 |
| Gait apraxia | 1.8% | 2/110 |
| Generalized myoclonic seizures | 1.8% | 2/110 |
| Hypoplasia of the corpus callosum | 1.8% | 2/110 |
| Intellectual disability, mild | 1.8% | 2/110 |
| Joint hyperflexibility | 1.8% | 2/110 |
| Migraine | 1.8% | 2/110 |
| Myoclonic atonic seizures | 1.8% | 2/110 |
| Neurodevelopmental delay | 1.8% | 2/110 |
| Profound global developmental delay | 1.8% | 2/110 |
| Receptive language delay | 1.8% | 2/110 |
| Abnormal pyramidal signs | 0.9% | 1/110 |
| Abnormality of coordination | 0.9% | 1/110 |
| Abnormal muscle tone | 0.9% | 1/110 |
| Abnormality of the choroid plexus | 0.9% | 1/110 |
| Abnormal posturing | 0.9% | 1/110 |
| Absent Achilles reflex | 0.9% | 1/110 |
| Agenesis of corpus callosum | 0.9% | 1/110 |
| Aphasia | 0.9% | 1/110 |
| Arachnoid cyst | 0.9% | 1/110 |
| Atonic seizures | 0.9% | 1/110 |
| Bowel incontinence | 0.9% | 1/110 |
| Brachial plexus neuropathy | 0.9% | 1/110 |
| Bulbar palsy | 0.9% | 1/110 |
| Chorea | 0.9% | 1/110 |
| Cognitive impairment | 0.9% | 1/110 |
| Craniosynostosis | 0.9% | 1/110 |
| Cranial nerve VI palsy | 0.9% | 1/110 |
| Dandy-Walker malformation | 0.9% | 1/110 |
| Delayed cranial suture closure | 0.9% | 1/110 |
| Dolichocephaly | 0.9% | 1/110 |
| EEG with generalized epileptiform discharges | 0.9% | 1/110 |
| Epileptic spasms | 0.9% | 1/110 |
| Episodic vomiting | 0.9% | 1/110 |
| Episodic generalized hypotonia | 0.9% | 1/110 |
| Esotropia | 0.9% | 1/110 |
| Exaggerated startle response | 0.9% | 1/110 |
| Excessive femoral anteversion | 0.9% | 1/110 |
| Facial grimacing | 0.9% | 1/110 |
| Focal clonic seizures | 0.9% | 1/110 |
| Gait ataxia | 0.9% | 1/110 |
| Hydrocephalus | 0.9% | 1/110 |
| Inability to walk by childhood/adolescence | 0.9% | 1/110 |
| Increased intracranial pressure | 0.9% | 1/110 |
| Intellectual disability, moderate | 0.9% | 1/110 |
| Intellectual disability | 0.9% | 1/110 |
| Joint hypermobility | 0.9% | 1/110 |
| Ligamentous laxity | 0.9% | 1/110 |
| Microphthalmia | 0.9% | 1/110 |
| Migraine with aura | 0.9% | 1/110 |
| Mild global developmental delay | 0.9% | 1/110 |
| Moderate receptive language delay | 0.9% | 1/110 |
| Motor deterioration | 0.9% | 1/110 |
| Muscle stiffness | 0.9% | 1/110 |
| Muscle weakness | 0.9% | 1/110 |
| Muscular hypotonia of the trunk | 0.9% | 1/110 |
| Muscular hypotonia | 0.9% | 1/110 |
| Myoclonic spasms | 0.9% | 1/110 |
| Myotonia | 0.9% | 1/110 |
| Pain insensitivity | 0.9% | 1/110 |
| Parkinsonism | 0.9% | 1/110 |
| Partial absence of the septum pellucidum | 0.9% | 1/110 |
| Periventricular leukomalacia | 0.9% | 1/110 |
| Plagiocephaly | 0.9% | 1/110 |
| Poor gross motor coordination | 0.9% | 1/110 |
| Repetitive compulsive behavior | 0.9% | 1/110 |
| Sensory impairment | 0.9% | 1/110 |
| Severe expressive language delay | 0.9% | 1/110 |
| Severe receptive language delay | 0.9% | 1/110 |
| Spasticity | 0.9% | 1/110 |
| Specific learning disability | 0.9% | 1/110 |
| Spina bifida occulta | 0.9% | 1/110 |
| Stereotypic behavior | 0.9% | 1/110 |
| Stroke | 0.9% | 1/110 |
| Tremor | 0.9% | 1/110 |
| Unsteady gait | 0.9% | 1/110 |
| Vasovagal syncope | 0.9% | 1/110 |
| Vocal cord paralysis | 0.9% | 1/110 |
| Behavioral problems | 93.3% | 83/89 |
| Absent speech | 30.3% | 27/89 |
| Poor eye contact | 30.3% | 27/89 |
| Short attention span | 25.8% | 23/89 |
| Aggressive behavior | 21.3% | 19/89 |
| Delayed speech and language development | 21.3% | 19/89 |
| Hyperactivity | 19.1% | 17/89 |
| Autistic behavior | 18.0% | 16/89 |
| Attention deficit hyperactivity disorder | 16.9% | 15/89 |
| Self-biting | 14.6% | 13/89 |
| Anxiety | 12.4% | 11/89 |
| Self-injurious behavior | 12.4% | 11/89 |
| Repetitive compulsive behavior | 11.2% | 10/89 |
| Agitation | 10.1% | 9/89 |
| Autism | 9.0% | 8/89 |
| Impulsivity | 9.0% | 8/89 |
| Irritability | 7.9% | 7/89 |
| Low frustration tolerance | 7.9% | 7/89 |
| Stereotypic behavior | 7.9% | 7/89 |
| Intellectual disability, profound | 6.7% | 6/89 |
| Global developmental delay | 5.6% | 5/89 |
| Head-banging | 5.6% | 5/89 |
| Obsessive-compulsive behavior | 5.6% | 5/89 |
| Sensory impairment | 5.6% | 5/89 |
| Abnormal aggressive, impulsive or violent behavior | 4.5% | 4/89 |
| Drooling | 4.5% | 4/89 |
| Expressive language delay | 4.5% | 4/89 |
| Hair-pulling | 4.5% | 4/89 |
| Moderate global developmental delay | 4.5% | 4/89 |
| Receptive language delay | 4.5% | 4/89 |
| Developmental regression | 3.4% | 3/89 |
| Intellectual disability | 3.4% | 3/89 |
| Recurrent hand flapping | 3.4% | 3/89 |
| Sleep disturbance | 3.4% | 3/89 |
| Specific learning disability | 3.4% | 3/89 |
| Mood swings | 2.2% | 2/89 |
| Oppositional defiant disorder | 2.2% | 2/89 |
| Poor coordination | 2.2% | 2/89 |
| Restlessness | 2.2% | 2/89 |
| Self-mutilation | 2.2% | 2/89 |
| Violent behavior | 2.2% | 2/89 |
| Abnormal eating behavior | 1.1% | 1/89 |
| Behavioral abnormality | 1.1% | 1/89 |
| Broad-based gait | 1.1% | 1/89 |
| Cognitive impairment | 1.1% | 1/89 |
| Conspicuously happy disposition | 1.1% | 1/89 |
| Delayed social development | 1.1% | 1/89 |
| Difficulty standing | 1.1% | 1/89 |
| Dysgraphia | 1.1% | 1/89 |
| Emotional lability | 1.1% | 1/89 |
| Generalized hypotonia | 1.1% | 1/89 |
| Impaired visuospatial constructive cognition | 1.1% | 1/89 |
| Intellectual disability, severe | 1.1% | 1/89 |
| Motor tics | 1.1% | 1/89 |
| Nail-biting | 1.1% | 1/89 |
| Phonic tics | 1.1% | 1/89 |
| Pica | 1.1% | 1/89 |
| Poor fine motor coordination | 1.1% | 1/89 |
| Sensory neuropathy | 1.1% | 1/89 |
| Severe receptive language delay | 1.1% | 1/89 |
| Severe global developmental delay | 1.1% | 1/89 |
| Severe expressive language delay | 1.1% | 1/89 |
| Slurred speech | 1.1% | 1/89 |
| Socially inappropriate behavior | 1.1% | 1/89 |
| Stereotypical body rocking | 1.1% | 1/89 |
| Stereotypical hand wringing | 1.1% | 1/89 |
| Toe walking | 1.1% | 1/89 |
| Brain abnormality | 71.4% | 60/84 |
| Hypoplasia of the corpus callosum | 19.0% | 16/84 |
| Periventricular leukomalacia | 16.7% | 14/84 |
| Ventriculomegaly | 16.7% | 14/84 |
| Abnormality of the periventricular white matter | 7.1% | 6/84 |
| Aplasia/Hypoplasia of the corpus callosum | 7.1% | 6/84 |
| Agenesis of corpus callosum | 4.8% | 4/84 |
| Cerebral atrophy | 4.8% | 4/84 |
| EEG abnormality | 4.8% | 4/84 |
| Abnormality of the cerebral ventricles | 3.6% | 3/84 |
| Cerebral white matter hypoplasia | 3.6% | 3/84 |
| Hydrocephalus | 3.6% | 3/84 |
| Abnormality of the subarachnoid space | 2.4% | 2/84 |
| Abnormality of the cerebral white matter | 2.4% | 2/84 |
| Aplasia/Hypoplasia of the cerebral white matter | 2.4% | 2/84 |
| Arachnoid cyst | 2.4% | 2/84 |
| Central nervous system cyst | 2.4% | 2/84 |
| Cerebral cortical atrophy | 2.4% | 2/84 |
| Cerebellar vermis hypoplasia | 2.4% | 2/84 |
| Gliosis | 2.4% | 2/84 |
| Hypointensity of cerebral white matter on MRI | 2.4% | 2/84 |
| Intracranial hemorrhage | 2.4% | 2/84 |
| Widened subarachnoid space | 2.4% | 2/84 |
| Abnormal size of pituitary gland | 1.2% | 1/84 |
| Abnormality of the cerebral cortex | 1.2% | 1/84 |
| Abnormality of the fourth ventricle | 1.2% | 1/84 |
| Abnormality of extrapyramidal motor function | 1.2% | 1/84 |
| Abnormality of the corpus callosum | 1.2% | 1/84 |
| Abnormality of the anterior fontanelle | 1.2% | 1/84 |
| Abnormality of the basal ganglia | 1.2% | 1/84 |
| Abnormality of the globus pallidus | 1.2% | 1/84 |
| Abnormality of lateral ventricle | 1.2% | 1/84 |
| Absent septum pellucidum | 1.2% | 1/84 |
| Aplasia/Hypoplasia of the cerebellar vermis | 1.2% | 1/84 |
| Brain neoplasm | 1.2% | 1/84 |
| Cerebral white matter atrophy | 1.2% | 1/84 |
| Cerebellar atrophy | 1.2% | 1/84 |
| Colpocephaly | 1.2% | 1/84 |
| Communicating hydrocephalus | 1.2% | 1/84 |
| Delayed CNS myelination | 1.2% | 1/84 |
| Delayed closure of the anterior fontanelle | 1.2% | 1/84 |
| Diffuse demyelination of the cerebral white matter | 1.2% | 1/84 |
| Dilation of lateral ventricles | 1.2% | 1/84 |
| EEG with generalized spikes | 1.2% | 1/84 |
| EEG with polyspike wave complexes | 1.2% | 1/84 |
| Encephalomalacia | 1.2% | 1/84 |
| Enlarged hippocampus | 1.2% | 1/84 |
| Enlarged cisterna magna | 1.2% | 1/84 |
| Extra-axial cerebrospinal fluid accumulation | 1.2% | 1/84 |
| Focal T2 hyperintense basal ganglia lesion | 1.2% | 1/84 |
| Hypodysplasia of the corpus callosum | 1.2% | 1/84 |
| Hypoplasia of the brainstem | 1.2% | 1/84 |
| Intraventricular hemorrhage | 1.2% | 1/84 |
| Intracranial cystic lesion | 1.2% | 1/84 |
| Limbic malformations | 1.2% | 1/84 |
| Medulloblastoma | 1.2% | 1/84 |
| Microcephaly | 1.2% | 1/84 |
| Mild fetal ventriculomegaly | 1.2% | 1/84 |
| Multiple suture craniosynostosis | 1.2% | 1/84 |
| Noncommunicating hydrocephalus | 1.2% | 1/84 |
| Periventricular cysts | 1.2% | 1/84 |
| Small pituitary gland | 1.2% | 1/84 |
| Stroke | 1.2% | 1/84 |
| Subcortical white matter calcifications | 1.2% | 1/84 |
| Venous thrombosis | 1.2% | 1/84 |
| Wide anterior fontanel | 1.2% | 1/84 |
| Facial abnormalities | ||
| Abnormality of the ear | 60.0% | 60/100 |
| Low-set ears | 36.0% | 36/100 |
| Large fleshy ears | 7.0% | 7/100 |
| Auricular tag | 4.0% | 4/100 |
| Prominent ear helix | 4.0% | 4/100 |
| Low-set, posteriorly rotated ears | 3.0% | 3/100 |
| Abnormality of the pinna | 2.0% | 2/100 |
| Bilateral sensorineural hearing impairment | 2.0% | 2/100 |
| Chronic otitis media | 2.0% | 2/100 |
| Hearing impairment | 2.0% | 2/100 |
| Protruding ear | 2.0% | 2/100 |
| Abnormality of earlobe | 1.0% | 1/100 |
| Abnormality of the outer ear | 1.0% | 1/100 |
| Abnormality of inferior crus of antihelix | 1.0% | 1/100 |
| Abnormality of the tympanic membrane | 1.0% | 1/100 |
| Auricular pit | 1.0% | 1/100 |
| Blocked Eustachian tube | 1.0% | 1/100 |
| Cupped ear | 1.0% | 1/100 |
| Large earlobe | 1.0% | 1/100 |
| Long ear | 1.0% | 1/100 |
| Overfolding of the superior helices | 1.0% | 1/100 |
| Posteriorly rotated ears | 1.0% | 1/100 |
| Preauricular pit | 1.0% | 1/100 |
| Primitive reflexes (palmomental, snout, glabellar) | 1.0% | 1/100 |
| Prominent nasolabial fold | 1.0% | 1/100 |
| Prominent crus of helix | 1.0% | 1/100 |
| Recurrent otitis media | 1.0% | 1/100 |
| Short columella | 1.0% | 1/100 |
| Small palpebral fissure | 1.0% | 1/100 |
| Stenosis of the external auditory canal | 1.0% | 1/100 |
| Uplifted earlobe | 1.0% | 1/100 |
| Vertical forehead creases | 1.0% | 1/100 |
| Abnormality of the eye | 92.2% | 95/103 |
| Long eyelashes | 38.8% | 40/103 |
| Thick eyebrow | 35.0% | 36/103 |
| Large eyes | 23.3% | 24/103 |
| Hypertelorism | 19.4% | 20/103 |
| Downslanted palpebral fissures | 17.5% | 18/103 |
| Astigmatism | 12.6% | 13/103 |
| Strabismus | 12.6% | 13/103 |
| Highly arched eyebrow | 11.7% | 12/103 |
| Cortical visual impairment | 8.7% | 9/103 |
| Prominent eyelashes | 8.7% | 9/103 |
| Myopia | 7.8% | 8/103 |
| Synophrys | 7.8% | 8/103 |
| Deeply set eye | 6.8% | 7/103 |
| Prominent epicanthal folds | 6.8% | 7/103 |
| Exotropia | 5.8% | 6/103 |
| Amblyopia | 4.9% | 5/103 |
| Anophthalmia | 4.9% | 5/103 |
| Blindness | 4.9% | 5/103 |
| Horizontal eyebrow | 4.9% | 5/103 |
| Hypermetropia | 4.9% | 5/103 |
| Esotropia | 3.9% | 4/103 |
| Long eyebrows | 3.9% | 4/103 |
| Nystagmus | 3.9% | 4/103 |
| Abnormality of the optic nerve | 2.9% | 3/103 |
| Hypotelorism | 2.9% | 3/103 |
| Microphthalmia | 2.9% | 3/103 |
| Ptosis | 2.9% | 3/103 |
| Unilateral strabismus | 2.9% | 3/103 |
| Abnormality of the pupil | 1.9% | 2/103 |
| Abnormality of the palpebral fissures | 1.9% | 2/103 |
| Aplasia/Hypoplasia of the optic nerve | 1.9% | 2/103 |
| Microcornea | 1.9% | 2/103 |
| Optic nerve aplasia | 1.9% | 2/103 |
| Palpebral edema | 1.9% | 2/103 |
| Severe Myopia | 1.9% | 2/103 |
| Abnormality of the optic disc | 1.0% | 1/103 |
| Abnormality of corneal size | 1.0% | 1/103 |
| Abnormal eye morphology | 1.0% | 1/103 |
| Abnormality of the eyelashes | 1.0% | 1/103 |
| Abnormality of the lacrimal duct | 1.0% | 1/103 |
| Abnormality of vision | 1.0% | 1/103 |
| Abnormality of the eyelid | 1.0% | 1/103 |
| Almond-shaped palpebral fissure | 1.0% | 1/103 |
| Aplasia/Hypoplasia affecting the eye | 1.0% | 1/103 |
| Bilateral ptosis | 1.0% | 1/103 |
| Congenital visual impairment | 1.0% | 1/103 |
| Congenital bilateral ptosis | 1.0% | 1/103 |
| Divergence nystagmus | 1.0% | 1/103 |
| Eyelid myoclonias | 1.0% | 1/103 |
| Facial asymmetry | 1.0% | 1/103 |
| Hyperopic astigmatism | 1.0% | 1/103 |
| Keratoconus | 1.0% | 1/103 |
| Lacrimal duct aplasia | 1.0% | 1/103 |
| Long palpebral fissure | 1.0% | 1/103 |
| Low frustration tolerance | 1.0% | 1/103 |
| Medial flaring of the eyebrow | 1.0% | 1/103 |
| Microcephaly | 1.0% | 1/103 |
| Oculomotor apraxia | 1.0% | 1/103 |
| Persistent pupillary membrane | 1.0% | 1/103 |
| Prominent forehead | 1.0% | 1/103 |
| Short palpebral fissure | 1.0% | 1/103 |
| Short columella | 1.0% | 1/103 |
| Small palpebral fissure | 1.0% | 1/103 |
| Upslanted palpebral fissure | 1.0% | 1/103 |
| Abnormality of the nose | 80.2% | 73/91 |
| Wide nasal bridge | 39.6% | 36/91 |
| Prominent nasal tip | 35.2% | 32/91 |
| Broad nasal tip | 16.5% | 15/91 |
| Anteverted nares | 11.0% | 10/91 |
| Short nose | 4.4% | 4/91 |
| Flared nostrils | 3.3% | 3/91 |
| Wide nasal base | 3.3% | 3/91 |
| Abnormality of the nasal bridge | 2.2% | 2/91 |
| Bulbous nose | 2.2% | 2/91 |
| Depressed nasal bridge | 2.2% | 2/91 |
| Primitive reflexes (palmomental, snout, glabellar) | 2.2% | 2/91 |
| Abnormality of the nasal alae | 1.1% | 1/91 |
| Abnormality of the nasal tip | 1.1% | 1/91 |
| Broad columella | 1.1% | 1/91 |
| Deviated nasal septum | 1.1% | 1/91 |
| Increased size of nasopharyngeal adenoids | 1.1% | 1/91 |
| Large beaked nose | 1.1% | 1/91 |
| Narrow nasal bridge | 1.1% | 1/91 |
| Short columella | 1.1% | 1/91 |
| Thick nasal alae | 1.1% | 1/91 |
| Thin anteverted nares | 1.1% | 1/91 |
| Abnormality of the mouth | 83.3% | 80/96 |
| High palate | 27.1% | 26/96 |
| Short philtrum | 13.5% | 13/96 |
| Thin upper lip vermilion | 12.5% | 12/96 |
| Long philtrum | 11.5% | 11/96 |
| Micrognathia | 11.5% | 11/96 |
| Abnormality of upper lip vermillion | 10.4% | 10/96 |
| Broad philtrum | 6.3% | 6/96 |
| Drooling | 6.3% | 6/96 |
| Tented philtrum | 6.3% | 6/96 |
| Ankyloglossia | 5.2% | 5/96 |
| Full cheeks | 5.2% | 5/96 |
| Abnormality of the tongue | 4.2% | 4/96 |
| Bruxism | 4.2% | 4/96 |
| High, narrow palate | 4.2% | 4/96 |
| Macrodontia | 4.2% | 4/96 |
| Narrow palate | 4.2% | 4/96 |
| Retrognathia | 4.2% | 4/96 |
| Tented upper lip vermilion | 4.2% | 4/96 |
| Thin vermilion border | 4.2% | 4/96 |
| Widely spaced teeth | 4.2% | 4/96 |
| Wide mouth | 4.2% | 4/96 |
| Abnormality of the philtrum | 3.1% | 3/96 |
| Deep philtrum | 3.1% | 3/96 |
| Microretrognathia | 3.1% | 3/96 |
| Short chin | 3.1% | 3/96 |
| Smooth philtrum | 3.1% | 3/96 |
| Thick upper lip vermilion | 3.1% | 3/96 |
| Abnormality of the lip | 2.1% | 2/96 |
| Carious teeth | 2.1% | 2/96 |
| Coarse facial features | 2.1% | 2/96 |
| Delayed eruption of primary teeth | 2.1% | 2/96 |
| Dental malocclusion | 2.1% | 2/96 |
| Gingival overgrowth | 2.1% | 2/96 |
| Irregularly spaced teeth | 2.1% | 2/96 |
| Pursed lips | 2.1% | 2/96 |
| Abnormality of the dental root | 1.0% | 1/96 |
| Abnormality of the teeth | 1.0% | 1/96 |
| Abnormality of molar | 1.0% | 1/96 |
| Abnormality of upper lip | 1.0% | 1/96 |
| Abnormality of mouth shape | 1.0% | 1/96 |
| Abnormality of dental eruption | 1.0% | 1/96 |
| Abnormality of oral frenula | 1.0% | 1/96 |
| Abnormality of the gingiva | 1.0% | 1/96 |
| Agenesis of molar | 1.0% | 1/96 |
| Bifid uvula | 1.0% | 1/96 |
| Compensatory chin elevation | 1.0% | 1/96 |
| Crowded maxillary incisors | 1.0% | 1/96 |
| Dental crowding | 1.0% | 1/96 |
| Diastema | 1.0% | 1/96 |
| Double tooth | 1.0% | 1/96 |
| Downturned corners of mouth | 1.0% | 1/96 |
| Horizontal eyebrow | 1.0% | 1/96 |
| Hypoplasia of teeth | 1.0% | 1/96 |
| Long upper lip | 1.0% | 1/96 |
| Macroglossia | 1.0% | 1/96 |
| Misalignment of teeth | 1.0% | 1/96 |
| Overbite | 1.0% | 1/96 |
| Persistence of primary teeth | 1.0% | 1/96 |
| Pointed chin | 1.0% | 1/96 |
| Poor suck | 1.0% | 1/96 |
| Premature loss of permanent teeth | 1.0% | 1/96 |
| Tongue thrusting | 1.0% | 1/96 |
| Torticollis | 1.0% | 1/96 |
| Visual and hearing impairments | ||
| Abnormal hearing | 32.0% | 24/75 |
| Hearing impairment | 17.3% | 13/75 |
| Bilateral sensorineural hearing impairment | 2.7% | 2/75 |
| Chronic otitis media | 2.7% | 2/75 |
| Conductive hearing impairment | 2.7% | 2/75 |
| Mild hearing impairment | 2.7% | 2/75 |
| Bilateral conductive hearing impairment | 1.3% | 1/75 |
| Hearing abnormality | 1.3% | 1/75 |
| Low-set ears | 1.3% | 1/75 |
| Otitis media | 1.3% | 1/75 |
| Recurrent otitis media | 1.3% | 1/75 |
| Sensorineural hearing impairment | 1.3% | 1/75 |
| Unilateral deafness | 1.3% | 1/75 |
| Abnormal vision | 77.5% | 69/89 |
| Astigmatism | 33.7% | 30/89 |
| Myopia | 20.2% | 18/89 |
| Strabismus | 16.9% | 15/89 |
| Cortical visual impairment | 14.6% | 13/89 |
| Exotropia | 10.1% | 9/89 |
| Amblyopia | 9.0% | 8/89 |
| Blindness | 7.9% | 7/89 |
| Esotropia | 6.7% | 6/89 |
| Hypermetropia | 6.7% | 6/89 |
| Nystagmus | 5.6% | 5/89 |
| Anophthalmia | 4.5% | 4/89 |
| Abnormality of vision | 3.4% | 3/89 |
| Hyperopic astigmatism | 3.4% | 3/89 |
| Abnormality of the optic nerve | 2.2% | 2/89 |
| Abnormality of the optic disc | 2.2% | 2/89 |
| Anisometropia | 2.2% | 2/89 |
| Hypertelorism | 2.2% | 2/89 |
| Optic atrophy | 2.2% | 2/89 |
| Optic nerve aplasia | 2.2% | 2/89 |
| Optic disc pallor | 2.2% | 2/89 |
| Ptosis | 2.2% | 2/89 |
| Severe Myopia | 2.2% | 2/89 |
| Visual impairment | 2.2% | 2/89 |
| Abnormality of the fundus | 1.1% | 1/89 |
| Aplasia/Hypoplasia of the optic nerve | 1.1% | 1/89 |
| Chorioretinal hyperpigmentation | 1.1% | 1/89 |
| Congenital visual impairment | 1.1% | 1/89 |
| Extension of hair growth on temples to lateral eyebrow | 1.1% | 1/89 |
| Impaired convergence | 1.1% | 1/89 |
| Microphthalmia | 1.1% | 1/89 |
| Oculomotor apraxia | 1.1% | 1/89 |
| Optic neuropathy | 1.1% | 1/89 |
| Retinal coloboma | 1.1% | 1/89 |
| Unilateral strabismus | 1.1% | 1/89 |
| Visual loss | 1.1% | 1/89 |
| Heart | ||
| Abnormality of the heart | 64.8% | 68/105 |
| Prolonged QT interval | 17.1% | 18/105 |
| Hypertrophic cardiomyopathy | 10.5% | 11/105 |
| Atria septal defect | 8.6% | 9/105 |
| Cardiac arrest | 8.6% | 9/105 |
| Ventricular septal defect | 8.6% | 9/105 |
| Heart murmur | 7.6% | 8/105 |
| Primum atrial septal defect | 6.7% | 7/105 |
| Tachycardia | 5.7% | 6/105 |
| Patent ductus arteriosus | 4.8% | 5/105 |
| Right ventricular hypertrophy | 4.8% | 5/105 |
| Supraventricular tachycardia | 4.8% | 5/105 |
| Bicuspid aortic valve | 3.8% | 4/105 |
| Cardiomegaly | 3.8% | 4/105 |
| Left ventricular hypertrophy | 3.8% | 4/105 |
| Patent foramen ovale | 3.8% | 4/105 |
| Pulmonary hypertension | 3.8% | 4/105 |
| Ventricular hypertrophy | 3.8% | 4/105 |
| Asymmetric septal hypertrophy | 2.9% | 3/105 |
| Atrial fibrillation | 2.9% | 3/105 |
| Bradycardia | 2.9% | 3/105 |
| Pulmonary artery stenosis | 2.9% | 3/105 |
| Sudden cardiac death | 2.9% | 3/105 |
| Abnormality of the left ventricular outflow tract | 1.9% | 2/105 |
| Abnormality of the atrial septum | 1.9% | 2/105 |
| Arterial stenosis | 1.9% | 2/105 |
| Episodic fatigue | 1.9% | 2/105 |
| Left ventricular septal hypertrophy | 1.9% | 2/105 |
| Mitral regurgitation | 1.9% | 2/105 |
| Pericardial effusion | 1.9% | 2/105 |
| Perimembranous ventricular septal defect | 1.9% | 2/105 |
| Right bundle branch block | 1.9% | 2/105 |
| Subaortic stenosis | 1.9% | 2/105 |
| Abnormality of the mitral valve | 1.0% | 1/105 |
| Abnormality of the tricuspid valve | 1.0% | 1/105 |
| Abnormality of the aorta | 1.0% | 1/105 |
| Abnormality of the vena cava | 1.0% | 1/105 |
| Abnormality of the aortic valve | 1.0% | 1/105 |
| Abnormality of the pulmonary valve | 1.0% | 1/105 |
| Abnormal thrombosis | 1.0% | 1/105 |
| Anomalous muscle bundle of the right ventricle | 1.0% | 1/105 |
| Aortic dilatation | 1.0% | 1/105 |
| Aortic root dilatation | 1.0% | 1/105 |
| Arrhythmia | 1.0% | 1/105 |
| Atrial septal aneurysm | 1.0% | 1/105 |
| Bundle branch block | 1.0% | 1/105 |
| Cardiomyopathy | 1.0% | 1/105 |
| Congenital septal defect | 1.0% | 1/105 |
| Congenital laryngeal stridor | 1.0% | 1/105 |
| Dilated cardiomyopathy | 1.0% | 1/105 |
| Impaired left ventricular function | 1.0% | 1/105 |
| Left superior vena cava draining to coronary sinus | 1.0% | 1/105 |
| Muscular ventricular septal defect | 1.0% | 1/105 |
| Primary atrial arrhythmia | 1.0% | 1/105 |
| Pulmonary artery dilatation | 1.0% | 1/105 |
| Right atrial enlargement | 1.0% | 1/105 |
| Secundum atrial septal defect | 1.0% | 1/105 |
| Sinus tachycardia | 1.0% | 1/105 |
| Syncope | 1.0% | 1/105 |
| Tachypnea | 1.0% | 1/105 |
| Tetralogy of Fallot | 1.0% | 1/105 |
| Tetralogy of Fallot with pulmonary stenosis | 1.0% | 1/105 |
| Torsade de pointes | 1.0% | 1/105 |
| Tricuspid regurgitation | 1.0% | 1/105 |
| Ventricular tachycardia | 1.0% | 1/105 |
| Ventricular fibrillation | 1.0% | 1/105 |
| Pulmonary | ||
| Abnormality of the lungs | 66.7% | 10/15 |
| Respiratory distress | 33.3% | 5/15 |
| Neonatal respiratory distress | 13.3% | 2/15 |
| Apnea | 6.7% | 1/15 |
| Aspiration | 6.7% | 1/15 |
| Interstitial pulmonary disease | 6.7% | 1/15 |
| Pulmonary hypertension | 6.7% | 1/15 |
| Respiratory failure requiring assisted ventilation | 6.7% | 1/15 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 94.9% | 93/98 |
| Feeding difficulties in infancy | 61.2% | 60/98 |
| Feeding difficulties | 48.0% | 47/98 |
| Dysphagia | 24.5% | 24/98 |
| Gastroesophageal reflux | 20.4% | 20/98 |
| Gastrostomy tube feeding in infancy | 14.3% | 14/98 |
| Episodic vomiting | 13.3% | 13/98 |
| Bowel incontinence | 12.2% | 12/98 |
| Nasogastric tube feeding in infancy | 10.2% | 10/98 |
| Constipation | 9.2% | 9/98 |
| Poor suck | 9.2% | 9/98 |
| Chronic constipation | 8.2% | 8/98 |
| Diarrhea | 7.1% | 7/98 |
| Esophagitis | 5.1% | 5/98 |
| Food intolerance | 5.1% | 5/98 |
| Vomiting | 5.1% | 5/98 |
| Abnormality of the esophagus | 4.1% | 4/98 |
| Gastrointestinal dysmotility | 4.1% | 4/98 |
| Pyloric stenosis | 4.1% | 4/98 |
| Celiac disease | 3.1% | 3/98 |
| Fatigable weakness of swallowing muscles | 3.1% | 3/98 |
| Laryngomalacia | 3.1% | 3/98 |
| Prolonged neonatal jaundice | 3.1% | 3/98 |
| Recurrent aspiration pneumonia | 3.1% | 3/98 |
| Abdominal pain | 2.0% | 2/98 |
| Abnormality of the gastrointestinal tract | 2.0% | 2/98 |
| Aspiration | 2.0% | 2/98 |
| Decreased body weight | 2.0% | 2/98 |
| Dysphasia | 2.0% | 2/98 |
| Failure to thrive | 2.0% | 2/98 |
| Inguinal hernia | 2.0% | 2/98 |
| Oral-pharyngeal dysphagia | 2.0% | 2/98 |
| Poor appetite | 2.0% | 2/98 |
| Abdominal distention | 1.0% | 1/98 |
| Abnormality of the rectum | 1.0% | 1/98 |
| Aganglionic megacolon | 1.0% | 1/98 |
| Anorectal anomaly | 1.0% | 1/98 |
| Congenital laryngeal stridor | 1.0% | 1/98 |
| Congenital diaphragmatic hernia | 1.0% | 1/98 |
| Cow milk allergy | 1.0% | 1/98 |
| Drooling | 1.0% | 1/98 |
| Episodic abdominal pain | 1.0% | 1/98 |
| Esophageal stenosis | 1.0% | 1/98 |
| Failure to thrive in infancy | 1.0% | 1/98 |
| Fat malabsorption | 1.0% | 1/98 |
| Graves disease | 1.0% | 1/98 |
| Hepatic cysts | 1.0% | 1/98 |
| Hepatosplenomegaly | 1.0% | 1/98 |
| Intermittent diarrhea | 1.0% | 1/98 |
| Lactose intolerance | 1.0% | 1/98 |
| Long-segment aganglionic megacolon | 1.0% | 1/98 |
| Nausea | 1.0% | 1/98 |
| Nausea and vomiting | 1.0% | 1/98 |
| Pneumonia | 1.0% | 1/98 |
| Projectile vomiting | 1.0% | 1/98 |
| Rectal prolapse | 1.0% | 1/98 |
| Umbilical hernia | 1.0% | 1/98 |
| Urogenital | ||
| Abnormality of the urogenital system | 41.2% | 35/85 |
| Recurrent urinary tract infections | 5.9% | 5/85 |
| Cryptorchidism | 4.7% | 4/85 |
| Hydronephrosis | 3.5% | 3/85 |
| Micropenis | 3.5% | 3/85 |
| Precocious puberty in females | 3.5% | 3/85 |
| Hypospadias | 2.4% | 2/85 |
| Precocious puberty | 2.4% | 2/85 |
| Urinary incontinence | 2.4% | 2/85 |
| Abnormality of the testis | 1.2% | 1/85 |
| Abnormal levels of creatine kinase in blood | 1.2% | 1/85 |
| Abnormality of male external genitalia | 1.2% | 1/85 |
| Abnormality of the menstrual cycle | 1.2% | 1/85 |
| Abnormality of the kidney | 1.2% | 1/85 |
| Abnormality of the ureter | 1.2% | 1/85 |
| Bifid scrotum | 1.2% | 1/85 |
| Clitoral hypertrophy | 1.2% | 1/85 |
| Decreased glomerular filtration rate | 1.2% | 1/85 |
| Dilatation of the renal pelvis | 1.2% | 1/85 |
| Dysmenorrhea | 1.2% | 1/85 |
| Enlarged kidneys | 1.2% | 1/85 |
| Fetal pyelectasis | 1.2% | 1/85 |
| Functional abnormality of the bladder | 1.2% | 1/85 |
| Hirsutism | 1.2% | 1/85 |
| Hydrocele testis | 1.2% | 1/85 |
| Localized hirsutism | 1.2% | 1/85 |
| Menorrhagia | 1.2% | 1/85 |
| Multiple renal cysts | 1.2% | 1/85 |
| Neurogenic bladder | 1.2% | 1/85 |
| Premature thelarche | 1.2% | 1/85 |
| Renal duplication | 1.2% | 1/85 |
| Renal artery stenosis | 1.2% | 1/85 |
| Renal cortical cysts | 1.2% | 1/85 |
| Ureter duplex | 1.2% | 1/85 |
| Skeleton | ||
| Skeletal abnormalities | 97.1% | 100/103 |
| Short stature | 32.0% | 33/103 |
| Microcephaly | 26.2% | 27/103 |
| Pectus excavatum | 17.5% | 18/103 |
| Scoliosis | 15.5% | 16/103 |
| Short foot | 13.6% | 14/103 |
| Toe walking | 13.6% | 14/103 |
| Small hand | 11.7% | 12/103 |
| Hip dysplasia | 9.7% | 10/103 |
| Slender finger | 9.7% | 10/103 |
| Pes planus | 8.7% | 9/103 |
| Delayed closure of the anterior fontanelle | 7.8% | 8/103 |
| Gait disturbance | 7.8% | 8/103 |
| Mild short stature | 7.8% | 8/103 |
| Tapered finger | 6.8% | 7/103 |
| Broad toe | 5.8% | 6/103 |
| Large fontanelles | 5.8% | 6/103 |
| Neonatal hypotonia | 5.8% | 6/103 |
| Clinodactyly | 4.9% | 5/103 |
| Generalized hypotonia | 4.9% | 5/103 |
| Slender build | 4.9% | 5/103 |
| Achilles tendon contracture | 3.9% | 4/103 |
| Broad forehead | 3.9% | 4/103 |
| Clinodactyly of the 5th finger | 3.9% | 4/103 |
| Torticollis | 3.9% | 4/103 |
| 2-3 toe syndactyly | 3.9% | 4/103 |
| Acetabular dysplasia | 2.9% | 3/103 |
| Barrel-shaped chest | 2.9% | 3/103 |
| Inability to walk | 2.9% | 3/103 |
| Joint hypermobility | 2.9% | 3/103 |
| Muscular hypotonia of the trunk | 2.9% | 3/103 |
| Plagiocephaly | 2.9% | 3/103 |
| Postnatal growth retardation | 2.9% | 3/103 |
| Prominent forehead | 2.9% | 3/103 |
| Sacral dimple | 2.9% | 3/103 |
| Abnormality of the fontanelles or cranial sutures | 1.9% | 2/103 |
| Abnormality of the hip joint | 1.9% | 2/103 |
| Abnormality of fontanelles | 1.9% | 2/103 |
| Abnormality of long bone morphology | 1.9% | 2/103 |
| Abnormal muscle tone | 1.9% | 2/103 |
| Absent palmar crease | 1.9% | 2/103 |
| Appendicular hypotonia | 1.9% | 2/103 |
| Bilateral talipes equinovarus | 1.9% | 2/103 |
| Broad distal phalanx of the toes | 1.9% | 2/103 |
| Clubbing of toes | 1.9% | 2/103 |
| Craniosynostosis | 1.9% | 2/103 |
| Cutis marmorata | 1.9% | 2/103 |
| Excessive femoral anteversion | 1.9% | 2/103 |
| Full cheeks | 1.9% | 2/103 |
| Hyperextensibility of the finger joints | 1.9% | 2/103 |
| Infantile muscular hypotonia | 1.9% | 2/103 |
| Kyphosis | 1.9% | 2/103 |
| Limb hypertonia | 1.9% | 2/103 |
| Lumbar kyphosis | 1.9% | 2/103 |
| Narrow foot | 1.9% | 2/103 |
| Overlapping toe | 1.9% | 2/103 |
| Pectus carinatum | 1.9% | 2/103 |
| Prominent fingertip pads | 1.9% | 2/103 |
| Sandal gap | 1.9% | 2/103 |
| Short chin | 1.9% | 2/103 |
| Short toe | 1.9% | 2/103 |
| Single transverse palmar crease | 1.9% | 2/103 |
| Small finger | 1.9% | 2/103 |
| Supernumerary ribs | 1.9% | 2/103 |
| Toe syndactyly | 1.9% | 2/103 |
| 3-4 finger syndactyly | 1.9% | 2/103 |
| 2-4 finger syndactyly | 1.9% | 2/103 |
| Abnormality of the zygomatic arch | 1.0% | 1/103 |
| Abnormal number of vertebrae | 1.0% | 1/103 |
| Abnormality of the thumb | 1.0% | 1/103 |
| Abnormality of the occipital bone | 1.0% | 1/103 |
| Abnormality of the musculature | 1.0% | 1/103 |
| Abnormality of the fibula | 1.0% | 1/103 |
| Abnormality of pelvic girdle bone morphology | 1.0% | 1/103 |
| Abnormality of the palmar creases | 1.0% | 1/103 |
| Ankle clonus | 1.0% | 1/103 |
| Anterior beaking of lumbar vertebrae | 1.0% | 1/103 |
| Brachycephaly | 1.0% | 1/103 |
| Brisk reflexes | 1.0% | 1/103 |
| Broad distal phalanx of finger | 1.0% | 1/103 |
| Broad-based gait | 1.0% | 1/103 |
| Camptodactyly of finger | 1.0% | 1/103 |
| Camptodactyly | 1.0% | 1/103 |
| Childhood onset short-limb short stature | 1.0% | 1/103 |
| Clinodactyly of the 5th toe | 1.0% | 1/103 |
| Clinodactyly of the 2nd toe | 1.0% | 1/103 |
| Coxa valga | 1.0% | 1/103 |
| Deep palmar crease | 1.0% | 1/103 |
| Dolichocephaly | 1.0% | 1/103 |
| Dysharmonic delayed bone age | 1.0% | 1/103 |
| Dysphagia | 1.0% | 1/103 |
| Enlarged joints | 1.0% | 1/103 |
| Equinovarus deformity | 1.0% | 1/103 |
| Finger syndactyly | 1.0% | 1/103 |
| Frequent falls | 1.0% | 1/103 |
| Frontal bossing | 1.0% | 1/103 |
| Gait imbalance | 1.0% | 1/103 |
| Gait ataxia | 1.0% | 1/103 |
| Generalized neonatal hypotonia | 1.0% | 1/103 |
| Hallux varus | 1.0% | 1/103 |
| Hemihypertrophy | 1.0% | 1/103 |
| Hip dislocation | 1.0% | 1/103 |
| Hydrocephalus | 1.0% | 1/103 |
| Hyperactive deep tendon reflexes | 1.0% | 1/103 |
| Hyperreflexia | 1.0% | 1/103 |
| Hypoplastic fifth toenail | 1.0% | 1/103 |
| Hypoplastic nipples | 1.0% | 1/103 |
| Inguinal hernia | 1.0% | 1/103 |
| Lumbar scoliosis | 1.0% | 1/103 |
| Lumbar hyperlordosis | 1.0% | 1/103 |
| Macrocephaly | 1.0% | 1/103 |
| Marked delay in bone age | 1.0% | 1/103 |
| Medial rotation of the medial malleolus | 1.0% | 1/103 |
| Metatarsus valgus | 1.0% | 1/103 |
| Metopic synostosis | 1.0% | 1/103 |
| Mild microcephaly | 1.0% | 1/103 |
| Mild postnatal growth retardation | 1.0% | 1/103 |
| Multiple joint contractures | 1.0% | 1/103 |
| Muscle stiffness | 1.0% | 1/103 |
| Myoclonus | 1.0% | 1/103 |
| Neonatal respiratory distress | 1.0% | 1/103 |
| Osteopenia | 1.0% | 1/103 |
| Pectus excavatum of inferior sternum | 1.0% | 1/103 |
| Pes cavus | 1.0% | 1/103 |
| Radial deviation of thumb terminal phalanx | 1.0% | 1/103 |
| Retrognathia | 1.0% | 1/103 |
| Scapular winging | 1.0% | 1/103 |
| Severe short-limb dwarfism | 1.0% | 1/103 |
| Short neck | 1.0% | 1/103 |
| Short finger | 1.0% | 1/103 |
| Short lower limbs | 1.0% | 1/103 |
| Small toe | 1.0% | 1/103 |
| Spastic paraplegia | 1.0% | 1/103 |
| Spina bifida occulta | 1.0% | 1/103 |
| Superior pectus carinatum | 1.0% | 1/103 |
| Talipes | 1.0% | 1/103 |
| Talipes equinovarus | 1.0% | 1/103 |
| Thoracolumbar kyphoscoliosis | 1.0% | 1/103 |
| Thoracic kyphosis | 1.0% | 1/103 |
| Vertebral compression fractures | 1.0% | 1/103 |
| Wormian bones | 1.0% | 1/103 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 77.8% | 70/90 |
| Mottled pigmentation | 28.9% | 26/90 |
| Hirsutism | 20.0% | 18/90 |
| Sparse anterior scalp hair | 11.1% | 10/90 |
| Eczema | 10.0% | 9/90 |
| Coarse hair | 8.9% | 8/90 |
| Low anterior hairline | 5.6% | 5/90 |
| Prominent fingertip pads | 5.6% | 5/90 |
| Dry skin | 4.4% | 4/90 |
| Excessive wrinkled skin | 4.4% | 4/90 |
| Thin skin | 4.4% | 4/90 |
| Acne | 3.3% | 3/90 |
| Cutis marmorata | 2.2% | 2/90 |
| Hyperextensible skin | 2.2% | 2/90 |
| Thick hair | 2.2% | 2/90 |
| Abnormality of the frontal hairline | 1.1% | 1/90 |
| Abnormal bleeding | 1.1% | 1/90 |
| Abnormality of the fingernails | 1.1% | 1/90 |
| Abnormal hair whorl | 1.1% | 1/90 |
| Abnormal elasticity of skin | 1.1% | 1/90 |
| Alopecia | 1.1% | 1/90 |
| Aplasia/Hypoplasia of the nipples | 1.1% | 1/90 |
| Atopic dermatitis | 1.1% | 1/90 |
| Auricular tag | 1.1% | 1/90 |
| Broad forehead | 1.1% | 1/90 |
| Bruising susceptibility | 1.1% | 1/90 |
| Cephalohematoma | 1.1% | 1/90 |
| Coarse facial features | 1.1% | 1/90 |
| Cutis laxa | 1.1% | 1/90 |
| Decreased subcutaneous fat | 1.1% | 1/90 |
| Dry hair | 1.1% | 1/90 |
| Eczematoid dermatitis | 1.1% | 1/90 |
| Facial hirsutism | 1.1% | 1/90 |
| Facial hemangioma | 1.1% | 1/90 |
| Fair hair | 1.1% | 1/90 |
| Frontal hirsutism | 1.1% | 1/90 |
| Hypertrichosis | 1.1% | 1/90 |
| Hypoplastic toenails | 1.1% | 1/90 |
| Low posterior hairline | 1.1% | 1/90 |
| Nevus flammeus | 1.1% | 1/90 |
| Nevus | 1.1% | 1/90 |
| Prominent nipples | 1.1% | 1/90 |
| Short foot | 1.1% | 1/90 |
| Single transverse palmar crease | 1.1% | 1/90 |
| Skin-picking | 1.1% | 1/90 |
| Skin rash | 1.1% | 1/90 |
| Slender build | 1.1% | 1/90 |
| Sparse hair | 1.1% | 1/90 |
| Sparse scalp hair | 1.1% | 1/90 |
| Sparse body hair | 1.1% | 1/90 |
| Supernumerary nipple | 1.1% | 1/90 |
| Telangiectases producing 'marbled' skin | 1.1% | 1/90 |
| 3-4 finger syndactyly | 1.1% | 1/90 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 42.7% | 32/75 |
| Hirsutism | 17.3% | 13/75 |
| Precocious puberty | 5.3% | 4/75 |
| Precocious puberty in females | 4.0% | 3/75 |
| Growth hormone deficiency | 2.7% | 2/75 |
| Hypoglycemia | 2.7% | 2/75 |
| Premature thelarche | 2.7% | 2/75 |
| Abnormal sweat homeostasis | 1.3% | 1/75 |
| Abnormality of the pubic hair | 1.3% | 1/75 |
| Abnormality of temperature regulation | 1.3% | 1/75 |
| Adrenocortical abnormality | 1.3% | 1/75 |
| Adrenal gland agenesis | 1.3% | 1/75 |
| Bowel incontinence | 1.3% | 1/75 |
| Breast hypoplasia | 1.3% | 1/75 |
| Diabetes mellitus | 1.3% | 1/75 |
| Facial hirsutism | 1.3% | 1/75 |
| Fatigue | 1.3% | 1/75 |
| Frontal hirsutism | 1.3% | 1/75 |
| Graves disease | 1.3% | 1/75 |
| Hypercalcemia | 1.3% | 1/75 |
| Hyperinsulinemia | 1.3% | 1/75 |
| Increased serum testosterone level | 1.3% | 1/75 |
| Menorrhagia | 1.3% | 1/75 |
| Neonatal hypoglycemia | 1.3% | 1/75 |
| Pituitary dwarfism | 1.3% | 1/75 |
| Premature adrenarche | 1.3% | 1/75 |
| Shield chest | 1.3% | 1/75 |
| Sleep disturbance | 1.3% | 1/75 |
| Urinary incontinence | 1.3% | 1/75 |
| Abnormality of the metabolic system | 90.9% | 80/88 |
| Abnormality of temperature regulation | 34.1% | 30/88 |
| Slender build | 28.4% | 25/88 |
| Sleep disturbance | 27.3% | 24/88 |
| Neonatal respiratory distress | 13.6% | 12/88 |
| Failure to thrive | 11.4% | 10/88 |
| Pneumonia | 11.4% | 10/88 |
| Absence of subcutaneous fat | 6.8% | 6/88 |
| Episodic fatigue | 6.8% | 6/88 |
| Apnea | 5.7% | 5/88 |
| Pica | 5.7% | 5/88 |
| Allergy | 4.5% | 4/88 |
| Asthma | 4.5% | 4/88 |
| Bowel incontinence | 4.5% | 4/88 |
| Bronchiolitis | 4.5% | 4/88 |
| Iron deficiency anemia | 4.5% | 4/88 |
| Sleep apnea | 4.5% | 4/88 |
| Decreased subcutaneous fat | 3.4% | 3/88 |
| Dyspnea | 3.4% | 3/88 |
| Hypoglycemia | 3.4% | 3/88 |
| Abnormal onset of bleeding | 2.3% | 2/88 |
| Abnormality of subcutaneous fat tissue | 2.3% | 2/88 |
| Breathing dysregulation | 2.3% | 2/88 |
| Bruising susceptibility | 2.3% | 2/88 |
| Chronic fatigue | 2.3% | 2/88 |
| Cyanotic episode | 2.3% | 2/88 |
| Cyanosis | 2.3% | 2/88 |
| Decreased body weight | 2.3% | 2/88 |
| Easy fatigability | 2.3% | 2/88 |
| Epistaxis | 2.3% | 2/88 |
| Failure to thrive in infancy | 2.3% | 2/88 |
| Fatigue | 2.3% | 2/88 |
| Hyperbilirubinemia | 2.3% | 2/88 |
| Hypertension | 2.3% | 2/88 |
| Interstitial pulmonary disease | 2.3% | 2/88 |
| Intrauterine growth retardation | 2.3% | 2/88 |
| Neonatal hypoglycemia | 2.3% | 2/88 |
| Prolonged neonatal jaundice | 2.3% | 2/88 |
| Recurrent upper respiratory tract infections | 2.3% | 2/88 |
| Red desaturation | 2.3% | 2/88 |
| Respiratory failure requiring assisted ventilation | 2.3% | 2/88 |
| Tachypnea | 2.3% | 2/88 |
| Abnormality of pain sensation | 1.1% | 1/88 |
| Abnormality of blood circulation | 1.1% | 1/88 |
| Abnormality of the spleen | 1.1% | 1/88 |
| Abnormal thrombosis | 1.1% | 1/88 |
| Abnormal sweat homeostasis | 1.1% | 1/88 |
| Abnormality of vitamin D metabolism | 1.1% | 1/88 |
| Anemia | 1.1% | 1/88 |
| Ankle swelling | 1.1% | 1/88 |
| Aspiration | 1.1% | 1/88 |
| Aspiration pneumonia | 1.1% | 1/88 |
| Bleeding with minor or no trauma | 1.1% | 1/88 |
| Blood group antigen abnormality | 1.1% | 1/88 |
| Bronchomalacia | 1.1% | 1/88 |
| Cardiorespiratory arrest | 1.1% | 1/88 |
| Cellulitis | 1.1% | 1/88 |
| Cough | 1.1% | 1/88 |
| Death in infancy | 1.1% | 1/88 |
| Decreased pulmonary function | 1.1% | 1/88 |
| Decreased plasma carnitine | 1.1% | 1/88 |
| Duplication of renal pelvis | 1.1% | 1/88 |
| Edema | 1.1% | 1/88 |
| Elevated alkaline phosphatase | 1.1% | 1/88 |
| Episodic fever | 1.1% | 1/88 |
| Episodic tachypnea | 1.1% | 1/88 |
| Growth delay | 1.1% | 1/88 |
| Hydronephrosis | 1.1% | 1/88 |
| Hyperlipidemia | 1.1% | 1/88 |
| Hypercalcemia | 1.1% | 1/88 |
| Hypernatremic dehydration | 1.1% | 1/88 |
| Hyperhidrosis | 1.1% | 1/88 |
| Hypermagnesemia | 1.1% | 1/88 |
| Hypercoagulability | 1.1% | 1/88 |
| Hypertriglyceridemia | 1.1% | 1/88 |
| Hyperinsulinemia | 1.1% | 1/88 |
| Infantile hypercalcemia | 1.1% | 1/88 |
| Insomnia | 1.1% | 1/88 |
| Laryngotracheomalacia | 1.1% | 1/88 |
| Lethargy | 1.1% | 1/88 |
| Meconium stained amniotic fluid | 1.1% | 1/88 |
| Multiple lipomas | 1.1% | 1/88 |
| Neonatal breathing dysregulation | 1.1% | 1/88 |
| Neonatal hyperbilirubinemia | 1.1% | 1/88 |
| Obstructive sleep apnea | 1.1% | 1/88 |
| Omphalocele | 1.1% | 1/88 |
| Pain insensitivity | 1.1% | 1/88 |
| Pleural lymphangiectasia | 1.1% | 1/88 |
| Postnatal growth retardation | 1.1% | 1/88 |
| Prolonged bleeding following procedure | 1.1% | 1/88 |
| Pulmonary fibrosis | 1.1% | 1/88 |
| Pulmonary lymphangiectasia | 1.1% | 1/88 |
| Pulmonary hypoplasia | 1.1% | 1/88 |
| Pulmonary hypertension | 1.1% | 1/88 |
| Recurrent infections | 1.1% | 1/88 |
| Recurrent respiratory infections | 1.1% | 1/88 |
| Recurrent aspiration pneumonia | 1.1% | 1/88 |
| Respiratory arrest | 1.1% | 1/88 |
| Severe failure to thrive | 1.1% | 1/88 |
| Slender finger | 1.1% | 1/88 |
| Small for gestational age | 1.1% | 1/88 |
| Stridor | 1.1% | 1/88 |
| Tracheobronchomalacia | 1.1% | 1/88 |
| Type II diabetes mellitus | 1.1% | 1/88 |
| Abnormality of the immune system | 30.8% | 20/65 |
| Allergy | 12.3% | 8/65 |
| Cow milk allergy | 7.7% | 5/65 |
| Recurrent respiratory infections | 4.6% | 3/65 |
| Recurrent infections | 3.1% | 2/65 |
| Apnea | 1.5% | 1/65 |
| Chronic otitis media | 1.5% | 1/65 |
| Easy fatigability | 1.5% | 1/65 |
| Food intolerance | 1.5% | 1/65 |
| Leukopenia | 1.5% | 1/65 |
| Neonatal sepsis | 1.5% | 1/65 |
| Otitis media | 1.5% | 1/65 |
| Recurrent otitis media | 1.5% | 1/65 |
| Recurrent pneumonia | 1.5% | 1/65 |
| Unexplained fevers | 1.5% | 1/65 |
| Velopharyngeal insufficiency | 1.5% | 1/65 |
| Neoplasia | ||
| Neoplasia | 2.8% | 3/106 |
| Abnormality of the mediastinum | 0.9% | 1/106 |
| Brain neoplasm | 0.9% | 1/106 |
| Leukemia | 0.9% | 1/106 |
| Medulloblastoma | 0.9% | 1/106 |