NAA15
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 65.8% | 50/76 |
| Female | 34.2% | 26/76 |
| Indifferent | 0% | 0/76 |
| Unknown | 0% | 0/76 |
| General | ||
| Birth Length abnormalities | 5.4% | 5/92 |
| < P3 : Birth length less than 3rd percentile | 5.4% | 5/92 |
| Birth Weight abnormalities | 15.1% | 14/93 |
| < P3 : Small for gestational age | 15.1% | 14/93 |
| Birth Head circumference abnormalities | 16.1% | 15/93 |
| < P3 : Primary microcephaly | 15.1% | 14/93 |
| > P98 : Macrocephaly at birth | 1.1% | 1/93 |
| Current Height abnormalities | 7.6% | 7/92 |
| < P3 : Short stature | 7.6% | 7/92 |
| Current Weight abnormalities | 16.5% | 15/91 |
| < P3 : Decreased body weight | 16.5% | 15/91 |
| Current Head circumference abnormalities | 16.3% | 15/92 |
| < P3 : Microcephaly | 15.2% | 14/92 |
| > P98 : Macrocephaly | 1.1% | 1/92 |
| Neurology | ||
| Neurological abnormalities | 98.6% | 70/71 |
| Delayed speech and language development | 38.0% | 27/71 |
| Global developmental delay | 29.6% | 21/71 |
| Motor delay | 26.8% | 19/71 |
| Generalized hypotonia | 19.7% | 14/71 |
| Mild global developmental delay | 16.9% | 12/71 |
| Moderate intellectual disability | 16.9% | 12/71 |
| Poor fine motor coordination | 16.9% | 12/71 |
| Moderate global developmental delay | 15.5% | 11/71 |
| Delayed fine motor development | 11.3% | 8/71 |
| Seizure | 9.9% | 7/71 |
| Broad-based gait | 8.5% | 6/71 |
| Mild intellectual disability | 8.5% | 6/71 |
| obsolete Poor motor coordination | 8.5% | 6/71 |
| Autism | 7.0% | 5/71 |
| Gait disturbance | 7.0% | 5/71 |
| Headache | 7.0% | 5/71 |
| Neonatal hypotonia | 7.0% | 5/71 |
| Slurred speech | 7.0% | 5/71 |
| Absent speech | 5.6% | 4/71 |
| Delayed gross motor development | 5.6% | 4/71 |
| Expressive language delay | 5.6% | 4/71 |
| Generalized non-motor (absence) seizure | 5.6% | 4/71 |
| Poor gross motor coordination | 5.6% | 4/71 |
| Frequent falls | 4.2% | 3/71 |
| Migraine | 4.2% | 3/71 |
| obsolete Poor coordination | 4.2% | 3/71 |
| Receptive language delay | 4.2% | 3/71 |
| Specific learning disability | 4.2% | 3/71 |
| Bilateral tonic-clonic seizure | 2.8% | 2/71 |
| Cerebral palsy | 2.8% | 2/71 |
| Developmental regression | 2.8% | 2/71 |
| Dyslexia | 2.8% | 2/71 |
| Floppy infant | 2.8% | 2/71 |
| Gait apraxia | 2.8% | 2/71 |
| Motor stereotypy | 2.8% | 2/71 |
| obsolete Toe walking | 2.8% | 2/71 |
| Severe global developmental delay | 2.8% | 2/71 |
| Speech apraxia | 2.8% | 2/71 |
| Tremor | 2.8% | 2/71 |
| Abnormality of ocular smooth pursuit | 1.4% | 1/71 |
| Abnormality of movement | 1.4% | 1/71 |
| Abnormal size of pituitary gland | 1.4% | 1/71 |
| Absent Achilles reflex | 1.4% | 1/71 |
| Apraxia | 1.4% | 1/71 |
| Astrocytoma | 1.4% | 1/71 |
| Ataxia | 1.4% | 1/71 |
| Atonic seizure | 1.4% | 1/71 |
| Attention deficit hyperactivity disorder | 1.4% | 1/71 |
| Autistic behavior | 1.4% | 1/71 |
| Borderline intellectual disability | 1.4% | 1/71 |
| Clumsiness | 1.4% | 1/71 |
| Cognitive impairment | 1.4% | 1/71 |
| Dandy-Walker malformation | 1.4% | 1/71 |
| Delayed closure of the anterior fontanelle | 1.4% | 1/71 |
| Dystonia | 1.4% | 1/71 |
| EEG abnormality | 1.4% | 1/71 |
| EEG with temporal sharp waves | 1.4% | 1/71 |
| Febrile seizure (within the age range of 3 months to 6 years) | 1.4% | 1/71 |
| Feeding difficulties | 1.4% | 1/71 |
| Focal-onset seizure | 1.4% | 1/71 |
| Gait ataxia | 1.4% | 1/71 |
| Generalized neonatal hypotonia | 1.4% | 1/71 |
| Hyporeflexia | 1.4% | 1/71 |
| Hypotonia | 1.4% | 1/71 |
| Intrauterine growth retardation | 1.4% | 1/71 |
| Loss of speech | 1.4% | 1/71 |
| Macrocephaly | 1.4% | 1/71 |
| Neurodevelopmental delay | 1.4% | 1/71 |
| Periventricular leukomalacia | 1.4% | 1/71 |
| Poor speech | 1.4% | 1/71 |
| Profound intellectual disability | 1.4% | 1/71 |
| Profound global developmental delay | 1.4% | 1/71 |
| Psychosis | 1.4% | 1/71 |
| Recurrent hand flapping | 1.4% | 1/71 |
| Severe intellectual disability | 1.4% | 1/71 |
| Short attention span | 1.4% | 1/71 |
| Sleep disturbance | 1.4% | 1/71 |
| Spastic gait | 1.4% | 1/71 |
| Speech articulation difficulties | 1.4% | 1/71 |
| Behavioral problems | 94.1% | 64/68 |
| Autistic behavior | 38.2% | 26/68 |
| Autism | 33.8% | 23/68 |
| Anxiety | 19.1% | 13/68 |
| Short attention span | 16.2% | 11/68 |
| Attention deficit hyperactivity disorder | 14.7% | 10/68 |
| Absent speech | 13.2% | 9/68 |
| Reduced eye contact | 11.8% | 8/68 |
| Delayed speech and language development | 10.3% | 7/68 |
| Recurrent hand flapping | 10.3% | 7/68 |
| Impulsivity | 8.8% | 6/68 |
| Aggressive behavior | 5.9% | 4/68 |
| obsolete Impaired social interactions | 5.9% | 4/68 |
| Agitation | 4.4% | 3/68 |
| Compulsive behaviors | 4.4% | 3/68 |
| Depression | 4.4% | 3/68 |
| Hyperactivity | 4.4% | 3/68 |
| Low frustration tolerance | 4.4% | 3/68 |
| Motor stereotypy | 4.4% | 3/68 |
| obsolete Abnormal aggressive, impulsive or violent behavior | 4.4% | 3/68 |
| Self-injurious behavior | 4.4% | 3/68 |
| Abnormal social behavior | 2.9% | 2/68 |
| Delayed early-childhood social milestone development | 2.9% | 2/68 |
| Developmental regression | 2.9% | 2/68 |
| Echolalia | 2.9% | 2/68 |
| obsolete Toe walking | 2.9% | 2/68 |
| Repetitive compulsive behavior | 2.9% | 2/68 |
| Self-biting | 2.9% | 2/68 |
| Abnormal eating behavior | 1.5% | 1/68 |
| Abnormal nonverbal communicative behavior | 1.5% | 1/68 |
| Expressive language delay | 1.5% | 1/68 |
| Gait disturbance | 1.5% | 1/68 |
| Inflexible adherence to routines | 1.5% | 1/68 |
| Irritability | 1.5% | 1/68 |
| Mild global developmental delay | 1.5% | 1/68 |
| Moderate intellectual disability | 1.5% | 1/68 |
| Mutism | 1.5% | 1/68 |
| Oppositional defiant disorder | 1.5% | 1/68 |
| Poor fine motor coordination | 1.5% | 1/68 |
| Reduced ability to form peer relationships | 1.5% | 1/68 |
| Severe intellectual disability | 1.5% | 1/68 |
| Slurred speech | 1.5% | 1/68 |
| Specific learning disability | 1.5% | 1/68 |
| Visual field defect | 1.5% | 1/68 |
| Brain abnormality | 24.4% | 10/41 |
| EEG abnormality | 4.9% | 2/41 |
| Abnormal cerebral white matter morphology | 2.4% | 1/41 |
| Aplasia/Hypoplasia of the corpus callosum | 2.4% | 1/41 |
| Astrocytoma | 2.4% | 1/41 |
| Atypical absence seizure | 2.4% | 1/41 |
| Cerebellar atrophy | 2.4% | 1/41 |
| Cortical dysplasia | 2.4% | 1/41 |
| Craniosynostosis | 2.4% | 1/41 |
| Dandy-Walker malformation | 2.4% | 1/41 |
| Encephalopathy | 2.4% | 1/41 |
| Generalized non-motor (absence) seizure | 2.4% | 1/41 |
| Interictal epileptiform activity | 2.4% | 1/41 |
| Microcephaly | 2.4% | 1/41 |
| obsolete White matter neuronal heterotopia | 2.4% | 1/41 |
| Periventricular leukomalacia | 2.4% | 1/41 |
| Seizure | 2.4% | 1/41 |
| Subcortical white matter calcifications | 2.4% | 1/41 |
| Subependymal nodules | 2.4% | 1/41 |
| Ventriculomegaly | 2.4% | 1/41 |
| Facial abnormalities | ||
| Abnormality of the ear | 34.5% | 19/55 |
| Low-set ears | 14.5% | 8/55 |
| Recurrent otitis media | 7.3% | 4/55 |
| Large fleshy ears | 3.6% | 2/55 |
| Abnormal pinna morphology | 1.8% | 1/55 |
| Anterior creases of earlobe | 1.8% | 1/55 |
| Auricular tag | 1.8% | 1/55 |
| Bilateral conductive hearing impairment | 1.8% | 1/55 |
| Chronic otitis media | 1.8% | 1/55 |
| Long ear | 1.8% | 1/55 |
| obsolete Low-set, posteriorly rotated ears | 1.8% | 1/55 |
| Overfolding of the superior helices | 1.8% | 1/55 |
| Posteriorly rotated ears | 1.8% | 1/55 |
| Preauricular pit | 1.8% | 1/55 |
| Prominent ear helix | 1.8% | 1/55 |
| Uplifted earlobe | 1.8% | 1/55 |
| Abnormality of the eye | 68.4% | 39/57 |
| Hypertelorism | 15.8% | 9/57 |
| Strabismus | 10.5% | 6/57 |
| Long eyelashes | 8.8% | 5/57 |
| Thick eyebrow | 8.8% | 5/57 |
| Abnormally large globe | 7.0% | 4/57 |
| Amblyopia | 7.0% | 4/57 |
| Horizontal eyebrow | 5.3% | 3/57 |
| obsolete Prominent epicanthal folds | 5.3% | 3/57 |
| Abnormal eyebrow morphology | 3.5% | 2/57 |
| Astigmatism | 3.5% | 2/57 |
| Epicanthus inversus | 3.5% | 2/57 |
| Long eyebrows | 3.5% | 2/57 |
| Myopia | 3.5% | 2/57 |
| Prominent eyelashes | 3.5% | 2/57 |
| Synophrys | 3.5% | 2/57 |
| Upslanted palpebral fissure | 3.5% | 2/57 |
| Abnormal optic nerve morphology | 1.8% | 1/57 |
| Abnormal lacrimal duct morphology | 1.8% | 1/57 |
| Almond-shaped palpebral fissure | 1.8% | 1/57 |
| Broad eyebrow | 1.8% | 1/57 |
| Coloboma | 1.8% | 1/57 |
| Downslanted palpebral fissures | 1.8% | 1/57 |
| Epicanthus | 1.8% | 1/57 |
| Esotropia | 1.8% | 1/57 |
| Exotropia | 1.8% | 1/57 |
| Hyperopic astigmatism | 1.8% | 1/57 |
| Hypermetropia | 1.8% | 1/57 |
| Hypoplasia of the lower eyelids | 1.8% | 1/57 |
| Hypotelorism | 1.8% | 1/57 |
| Nystagmus | 1.8% | 1/57 |
| Periorbital edema | 1.8% | 1/57 |
| Prominent forehead | 1.8% | 1/57 |
| Ptosis | 1.8% | 1/57 |
| Reduced eye contact | 1.8% | 1/57 |
| Short palpebral fissure | 1.8% | 1/57 |
| Telecanthus | 1.8% | 1/57 |
| Abnormality of the nose | 61.8% | 34/55 |
| Wide nasal bridge | 18.2% | 10/55 |
| Prominent nasal tip | 12.7% | 7/55 |
| Broad nasal tip | 7.3% | 4/55 |
| Depressed nasal bridge | 7.3% | 4/55 |
| Abnormal nasal bridge morphology | 5.5% | 3/55 |
| Abnormality of the philtrum | 3.6% | 2/55 |
| Abnormal nasal base norphology | 3.6% | 2/55 |
| Abnormal nasal tip morphology | 3.6% | 2/55 |
| Abnormality of upper lip vermillion | 3.6% | 2/55 |
| Bulbous nose | 3.6% | 2/55 |
| Hypoplastic nasal bridge | 3.6% | 2/55 |
| Narrow nasal bridge | 3.6% | 2/55 |
| obsolete Thin anteverted nares | 3.6% | 2/55 |
| Wide nasal base | 3.6% | 2/55 |
| Abnormal columella morphology | 1.8% | 1/55 |
| Anteverted nares | 1.8% | 1/55 |
| Long philtrum | 1.8% | 1/55 |
| Prominent glabella | 1.8% | 1/55 |
| Smooth philtrum | 1.8% | 1/55 |
| Tented philtrum | 1.8% | 1/55 |
| Thick nasal alae | 1.8% | 1/55 |
| Triangular nasal tip | 1.8% | 1/55 |
| Wide nose | 1.8% | 1/55 |
| Abnormality of the mouth | 60.7% | 34/56 |
| High palate | 10.7% | 6/56 |
| Long philtrum | 10.7% | 6/56 |
| Tented philtrum | 7.1% | 4/56 |
| Retrognathia | 5.4% | 3/56 |
| Tented upper lip vermilion | 5.4% | 3/56 |
| Abnormality of the chin | 3.6% | 2/56 |
| Ankyloglossia | 3.6% | 2/56 |
| Smooth philtrum | 3.6% | 2/56 |
| Thick upper lip vermilion | 3.6% | 2/56 |
| Thin upper lip vermilion | 3.6% | 2/56 |
| Abnormal lip morphology | 1.8% | 1/56 |
| Abnormality of mouth shape | 1.8% | 1/56 |
| Abnormal oral frenulum morphology | 1.8% | 1/56 |
| Abnormality of the dentition | 1.8% | 1/56 |
| Abnormality of mouth size | 1.8% | 1/56 |
| Abnormality of upper lip vermillion | 1.8% | 1/56 |
| Abnormality of the philtrum | 1.8% | 1/56 |
| Abnormality of the tongue | 1.8% | 1/56 |
| Broad philtrum | 1.8% | 1/56 |
| Dental crowding | 1.8% | 1/56 |
| Dental malocclusion | 1.8% | 1/56 |
| Drooling | 1.8% | 1/56 |
| High, narrow palate | 1.8% | 1/56 |
| Hypertelorism | 1.8% | 1/56 |
| Increased overbite | 1.8% | 1/56 |
| Irregularly spaced teeth | 1.8% | 1/56 |
| Irregular dentition | 1.8% | 1/56 |
| Macrodontia | 1.8% | 1/56 |
| Multiple suture craniosynostosis | 1.8% | 1/56 |
| Narrow mouth | 1.8% | 1/56 |
| obsolete Abnormal malar bone morphology | 1.8% | 1/56 |
| Short philtrum | 1.8% | 1/56 |
| Triangular face | 1.8% | 1/56 |
| Upturned corners of mouth | 1.8% | 1/56 |
| Widely spaced teeth | 1.8% | 1/56 |
| Visual and hearing impairments | ||
| Abnormal hearing | 20.0% | 8/40 |
| Chronic otitis media | 5.0% | 2/40 |
| Hearing abnormality | 5.0% | 2/40 |
| Hearing impairment | 5.0% | 2/40 |
| Bilateral sensorineural hearing impairment | 2.5% | 1/40 |
| Mild hearing impairment | 2.5% | 1/40 |
| Abnormal vision | 46.3% | 19/41 |
| Strabismus | 14.6% | 6/41 |
| Amblyopia | 9.8% | 4/41 |
| Myopia | 7.3% | 3/41 |
| Astigmatism | 4.9% | 2/41 |
| Abnormal optic nerve morphology | 2.4% | 1/41 |
| Abnormality of refraction | 2.4% | 1/41 |
| Abnormal eyelid morphology | 2.4% | 1/41 |
| Avascular peripheral retina | 2.4% | 1/41 |
| Cerebral visual impairment | 2.4% | 1/41 |
| Cervical instability | 2.4% | 1/41 |
| Esotropia | 2.4% | 1/41 |
| Exotropia | 2.4% | 1/41 |
| Hyperopic astigmatism | 2.4% | 1/41 |
| Hypermetropia | 2.4% | 1/41 |
| Hypertelorism | 2.4% | 1/41 |
| Progressive visual loss | 2.4% | 1/41 |
| Visual impairment | 2.4% | 1/41 |
| Heart | ||
| Abnormality of the heart | 36.2% | 21/58 |
| Heart murmur | 12.1% | 7/58 |
| Ventricular septal defect | 6.9% | 4/58 |
| Tachycardia | 5.2% | 3/58 |
| Anomalous pulmonary venous return | 3.4% | 2/58 |
| Cardiomyopathy | 3.4% | 2/58 |
| Dextrocardia | 3.4% | 2/58 |
| Double outlet right ventricle | 3.4% | 2/58 |
| Patent foramen ovale | 3.4% | 2/58 |
| Persistent left superior vena cava | 3.4% | 2/58 |
| Right aortic arch | 3.4% | 2/58 |
| Single ventricle | 3.4% | 2/58 |
| Tetralogy of Fallot | 3.4% | 2/58 |
| Tricuspid atresia | 3.4% | 2/58 |
| Ventricular septal hypertrophy | 3.4% | 2/58 |
| Abnormal aortic morphology | 1.7% | 1/58 |
| Abnormal aortic arch morphology | 1.7% | 1/58 |
| Aortic root aneurysm | 1.7% | 1/58 |
| Atrial septal defect | 1.7% | 1/58 |
| Atrial arrhythmia | 1.7% | 1/58 |
| Congestive heart failure | 1.7% | 1/58 |
| Hypertension | 1.7% | 1/58 |
| Hypoplastic right ventricle | 1.7% | 1/58 |
| Left superior vena cava draining directly to the left atrium | 1.7% | 1/58 |
| Mitral regurgitation | 1.7% | 1/58 |
| Multifocal atrial tachycardia | 1.7% | 1/58 |
| obsolete Congenital septal defect | 1.7% | 1/58 |
| Primum atrial septal defect | 1.7% | 1/58 |
| Prolonged QT interval | 1.7% | 1/58 |
| Pulmonic stenosis | 1.7% | 1/58 |
| Pulmonary artery stenosis | 1.7% | 1/58 |
| Supraventricular tachycardia | 1.7% | 1/58 |
| Tachypnea | 1.7% | 1/58 |
| Tetralogy of Fallot with pulmonary stenosis | 1.7% | 1/58 |
| Tetralogy of Fallot with pulmonary atresia | 1.7% | 1/58 |
| Transposition of the great arteries | 1.7% | 1/58 |
| Ventricular tachycardia | 1.7% | 1/58 |
| Pulmonary | ||
| Abnormality of the lungs | 28.6% | 2/7 |
| Asthma | 14.3% | 1/7 |
| Respiratory distress | 14.3% | 1/7 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 61.4% | 35/57 |
| Feeding difficulties in infancy | 28.1% | 16/57 |
| Feeding difficulties | 22.8% | 13/57 |
| Dysphagia | 14.0% | 8/57 |
| Constipation | 10.5% | 6/57 |
| Gastroesophageal reflux | 10.5% | 6/57 |
| Chronic constipation | 5.3% | 3/57 |
| Esophagitis | 5.3% | 3/57 |
| Food intolerance | 5.3% | 3/57 |
| Nasogastric tube feeding in infancy | 5.3% | 3/57 |
| Abdominal distention | 3.5% | 2/57 |
| Aspiration | 3.5% | 2/57 |
| Episodic vomiting | 3.5% | 2/57 |
| Vomiting | 3.5% | 2/57 |
| Abnormality of the gastrointestinal tract | 1.8% | 1/57 |
| Abnormality of the liver | 1.8% | 1/57 |
| Abnormality of the hepatic vasculature | 1.8% | 1/57 |
| Allergy | 1.8% | 1/57 |
| Anteriorly placed anus | 1.8% | 1/57 |
| Chronic diarrhea | 1.8% | 1/57 |
| Diarrhea | 1.8% | 1/57 |
| Failure to thrive in infancy | 1.8% | 1/57 |
| Gastrostomy tube feeding in infancy | 1.8% | 1/57 |
| Hyperbilirubinemia | 1.8% | 1/57 |
| Intestinal malrotation | 1.8% | 1/57 |
| Intrauterine growth retardation | 1.8% | 1/57 |
| Lactose intolerance | 1.8% | 1/57 |
| Meconium stained amniotic fluid | 1.8% | 1/57 |
| Pica | 1.8% | 1/57 |
| Polyphagia | 1.8% | 1/57 |
| Prolonged neonatal jaundice | 1.8% | 1/57 |
| Urogenital | ||
| Abnormality of the urogenital system | 16.0% | 8/50 |
| Hydronephrosis | 4.0% | 2/50 |
| Abnormality of the breast | 2.0% | 1/50 |
| Abnormality of the pubic hair | 2.0% | 1/50 |
| Chordee | 2.0% | 1/50 |
| Cryptorchidism | 2.0% | 1/50 |
| Hypospadias | 2.0% | 1/50 |
| Penile hypospadias | 2.0% | 1/50 |
| Polyuria | 2.0% | 1/50 |
| Precocious puberty in males | 2.0% | 1/50 |
| Premature adrenarche | 2.0% | 1/50 |
| Skeleton | ||
| Skeletal abnormalities | 67.7% | 42/62 |
| Short stature | 11.3% | 7/62 |
| Slender finger | 11.3% | 7/62 |
| Slender build | 9.7% | 6/62 |
| Broad forehead | 8.1% | 5/62 |
| Gait disturbance | 8.1% | 5/62 |
| Microcephaly | 8.1% | 5/62 |
| Clinodactyly | 6.5% | 4/62 |
| Generalized hypotonia | 6.5% | 4/62 |
| Pes planus | 6.5% | 4/62 |
| Clinodactyly of the 5th finger | 4.8% | 3/62 |
| Cutis marmorata | 4.8% | 3/62 |
| Finger syndactyly | 4.8% | 3/62 |
| Hyperextensible hand joints | 4.8% | 3/62 |
| obsolete Joint laxity | 4.8% | 3/62 |
| obsolete Toe walking | 4.8% | 3/62 |
| Pectus excavatum | 4.8% | 3/62 |
| Finger clinodactyly | 3.2% | 2/62 |
| Hip dysplasia | 3.2% | 2/62 |
| Hypermobility of toe joints | 3.2% | 2/62 |
| Joint hypermobility | 3.2% | 2/62 |
| Mild short stature | 3.2% | 2/62 |
| obsolete Externally rotated/abducted legs | 3.2% | 2/62 |
| obsolete Joint hyperflexibility | 3.2% | 2/62 |
| Pectus carinatum | 3.2% | 2/62 |
| Prominent forehead | 3.2% | 2/62 |
| Sacral dimple | 3.2% | 2/62 |
| Scoliosis | 3.2% | 2/62 |
| Abnormal muscle tone | 1.6% | 1/62 |
| Abnormal forehead morphology | 1.6% | 1/62 |
| Abnormal patella morphology | 1.6% | 1/62 |
| Abnormal finger phalanx morphology | 1.6% | 1/62 |
| Abnormality of the ankle | 1.6% | 1/62 |
| Abnormal rib morphology | 1.6% | 1/62 |
| Ankle clonus | 1.6% | 1/62 |
| Aplasia/hypoplasia of proximal toe phalanx | 1.6% | 1/62 |
| Aplasia/Hypoplasia of the distal phalanx of the 3rd toe | 1.6% | 1/62 |
| Brachydactyly | 1.6% | 1/62 |
| Brachycephaly | 1.6% | 1/62 |
| Broad-based gait | 1.6% | 1/62 |
| Clumsiness | 1.6% | 1/62 |
| Craniosynostosis | 1.6% | 1/62 |
| Exercise-induced muscle fatigue | 1.6% | 1/62 |
| Flat occiput | 1.6% | 1/62 |
| Frequent falls | 1.6% | 1/62 |
| Frontal bossing | 1.6% | 1/62 |
| Gait ataxia | 1.6% | 1/62 |
| Generalized joint hypermobility | 1.6% | 1/62 |
| Genu recurvatum | 1.6% | 1/62 |
| High forehead | 1.6% | 1/62 |
| Hyperlordosis | 1.6% | 1/62 |
| Hyperextensibility of the knee | 1.6% | 1/62 |
| Hypoplastic nipples | 1.6% | 1/62 |
| Hypotonia | 1.6% | 1/62 |
| Increased carrying angle | 1.6% | 1/62 |
| Limitation of movement at ankles | 1.6% | 1/62 |
| Lumbar kyphoscoliosis | 1.6% | 1/62 |
| Macrocephaly | 1.6% | 1/62 |
| Metatarsus adductus | 1.6% | 1/62 |
| Microretrognathia | 1.6% | 1/62 |
| Mild microcephaly | 1.6% | 1/62 |
| Neonatal hypotonia | 1.6% | 1/62 |
| Overlapping toe | 1.6% | 1/62 |
| Plagiocephaly | 1.6% | 1/62 |
| Proportionate tall stature | 1.6% | 1/62 |
| Protuberant abdomen | 1.6% | 1/62 |
| Short foot | 1.6% | 1/62 |
| Six lumbar vertebrae | 1.6% | 1/62 |
| Slender toe | 1.6% | 1/62 |
| Small finger | 1.6% | 1/62 |
| Small hand | 1.6% | 1/62 |
| Small toe | 1.6% | 1/62 |
| Small for gestational age | 1.6% | 1/62 |
| Talipes | 1.6% | 1/62 |
| Tapered finger | 1.6% | 1/62 |
| Triangular face | 1.6% | 1/62 |
| 1-2 finger cutaneous syndactyly | 1.6% | 1/62 |
| 3-4 finger osseus syndactyly | 1.6% | 1/62 |
| 3-4 toe syndactyly | 1.6% | 1/62 |
| 1-3 toe syndactyly | 1.6% | 1/62 |
| 3-5 toe syndactyly | 1.6% | 1/62 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 58.8% | 30/51 |
| Eczematoid dermatitis | 15.7% | 8/51 |
| Few cafe-au-lait spots | 5.9% | 3/51 |
| Facial hemangioma | 3.9% | 2/51 |
| Fine hair | 3.9% | 2/51 |
| Mottled pigmentation | 3.9% | 2/51 |
| obsolete Eczematoid dermatitis | 3.9% | 2/51 |
| Abnormal number of hair whorls | 2.0% | 1/51 |
| Abnormally lax or hyperextensible skin | 2.0% | 1/51 |
| Abnormal sweat gland morphology | 2.0% | 1/51 |
| Atopic dermatitis | 2.0% | 1/51 |
| Cafe-au-lait spot | 2.0% | 1/51 |
| Capillary hemangioma | 2.0% | 1/51 |
| Cellulitis | 2.0% | 1/51 |
| Cyanosis | 2.0% | 1/51 |
| Fair hair | 2.0% | 1/51 |
| Hirsutism | 2.0% | 1/51 |
| Hyperpigmented/hypopigmented macules | 2.0% | 1/51 |
| Prominent veins on trunk | 2.0% | 1/51 |
| Redundant skin in infancy | 2.0% | 1/51 |
| Skin rash | 2.0% | 1/51 |
| Sparse hair | 2.0% | 1/51 |
| Sparse scalp hair | 2.0% | 1/51 |
| Striae distensae | 2.0% | 1/51 |
| Thick hair | 2.0% | 1/51 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 17.4% | 8/46 |
| Bruising susceptibility | 2.2% | 1/46 |
| Decreased response to growth hormone stimulation test | 2.2% | 1/46 |
| Epistaxis | 2.2% | 1/46 |
| Failure to thrive | 2.2% | 1/46 |
| Hirsutism | 2.2% | 1/46 |
| Hypercalcemia | 2.2% | 1/46 |
| Hypoglycemia | 2.2% | 1/46 |
| Hypopituitarism | 2.2% | 1/46 |
| Menorrhagia | 2.2% | 1/46 |
| Neonatal hypoglycemia | 2.2% | 1/46 |
| Pica | 2.2% | 1/46 |
| Precocious puberty | 2.2% | 1/46 |
| Premature adrenarche | 2.2% | 1/46 |
| Primary hyperparathyroidism | 2.2% | 1/46 |
| Sleep disturbance | 2.2% | 1/46 |
| Abnormality of the metabolic system | 58.2% | 32/55 |
| Sleep disturbance | 9.1% | 5/55 |
| Abnormality of temperature regulation | 5.5% | 3/55 |
| Anemia | 5.5% | 3/55 |
| Failure to thrive | 5.5% | 3/55 |
| Neonatal hypoglycemia | 5.5% | 3/55 |
| Slender build | 5.5% | 3/55 |
| Allergy | 3.6% | 2/55 |
| Episodic fatigue | 3.6% | 2/55 |
| Failure to thrive in infancy | 3.6% | 2/55 |
| Lethargy | 3.6% | 2/55 |
| Neonatal respiratory distress | 3.6% | 2/55 |
| Pica | 3.6% | 2/55 |
| Prolonged neonatal jaundice | 3.6% | 2/55 |
| Abnormality of the tonsils | 1.8% | 1/55 |
| Abnormal circulating creatine kinase concentration | 1.8% | 1/55 |
| Abnormal sweat homeostasis | 1.8% | 1/55 |
| Absence of subcutaneous fat | 1.8% | 1/55 |
| Acidosis | 1.8% | 1/55 |
| Apnea | 1.8% | 1/55 |
| Asplenia | 1.8% | 1/55 |
| Bronchiolitis | 1.8% | 1/55 |
| Central sleep apnea | 1.8% | 1/55 |
| Chronic fatigue | 1.8% | 1/55 |
| Chronic constipation | 1.8% | 1/55 |
| Congenital diaphragmatic hernia | 1.8% | 1/55 |
| Cow milk allergy | 1.8% | 1/55 |
| Cyanotic episode | 1.8% | 1/55 |
| Cyanosis | 1.8% | 1/55 |
| Decreased circulating carnitine concentration | 1.8% | 1/55 |
| Decreased activity of mitochondrial complex III | 1.8% | 1/55 |
| Edema | 1.8% | 1/55 |
| Episodic upper airway obstruction | 1.8% | 1/55 |
| Fatigue | 1.8% | 1/55 |
| Gastroesophageal reflux | 1.8% | 1/55 |
| Heat intolerance | 1.8% | 1/55 |
| Hypoglycemia | 1.8% | 1/55 |
| Hypothyroidism | 1.8% | 1/55 |
| Iron deficiency anemia | 1.8% | 1/55 |
| Malignant hyperthermia | 1.8% | 1/55 |
| Neonatal sepsis | 1.8% | 1/55 |
| Neonatal asphyxia | 1.8% | 1/55 |
| Neonatal hyperbilirubinemia | 1.8% | 1/55 |
| Obesity | 1.8% | 1/55 |
| obsolete Hypersomnia | 1.8% | 1/55 |
| Obstructive sleep apnea | 1.8% | 1/55 |
| Precocious puberty | 1.8% | 1/55 |
| Projectile vomiting | 1.8% | 1/55 |
| Recurrent upper respiratory tract infections | 1.8% | 1/55 |
| Recurrent deep vein thrombosis | 1.8% | 1/55 |
| Small for gestational age | 1.8% | 1/55 |
| Tachypnea | 1.8% | 1/55 |
| Unilateral lung agenesis | 1.8% | 1/55 |
| Weight loss | 1.8% | 1/55 |
| Abnormality of the immune system | 37.5% | 18/48 |
| Allergy | 25.0% | 12/48 |
| Eczematoid dermatitis | 6.3% | 3/48 |
| Allergic rhinitis | 4.2% | 2/48 |
| Asthma | 4.2% | 2/48 |
| Asplenia | 2.1% | 1/48 |
| Bronchitis | 2.1% | 1/48 |
| Bruising susceptibility | 2.1% | 1/48 |
| Cellulitis | 2.1% | 1/48 |
| Chronic lung disease | 2.1% | 1/48 |
| Easy fatigability | 2.1% | 1/48 |
| Fructose intolerance | 2.1% | 1/48 |
| Lactose intolerance | 2.1% | 1/48 |
| obsolete Eczematoid dermatitis | 2.1% | 1/48 |
| Pneumonia | 2.1% | 1/48 |
| Pulmonic regurgitation | 2.1% | 1/48 |
| Recurrent upper respiratory tract infections | 2.1% | 1/48 |
| Recurrent otitis media | 2.1% | 1/48 |
| Recurrent infections due to aspiration | 2.1% | 1/48 |
| Seasonal allergy | 2.1% | 1/48 |
| Skin rash | 2.1% | 1/48 |
| Vasculitis | 2.1% | 1/48 |
| Neoplasia | ||
| Neoplasia | 4.2% | 3/72 |
| Astrocytoma | 1.4% | 1/72 |