NACC1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 6/9 |
| Female | 33.3% | 3/9 |
| Indifferent | 0% | 0/9 |
| Unknown | 0% | 0/9 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 9/9 |
| Muscular hypotonia | 77.8% | 7/9 |
| Infantile spasms | 55.6% | 5/9 |
| Hypsarrhythmia | 33.3% | 3/9 |
| Seizures | 33.3% | 3/9 |
| Sleep disturbance | 33.3% | 3/9 |
| Generalized tonic seizures | 22.2% | 2/9 |
| Poor head control | 22.2% | 2/9 |
| Spasticity | 22.2% | 2/9 |
| Abnormal autonomic nervous system physiology | 11.1% | 1/9 |
| Appendicular hypotonia | 11.1% | 1/9 |
| Central apnea | 11.1% | 1/9 |
| Central hypotonia | 11.1% | 1/9 |
| Cerebral palsy | 11.1% | 1/9 |
| Chorea | 11.1% | 1/9 |
| Dystonia | 11.1% | 1/9 |
| EEG abnormality | 11.1% | 1/9 |
| EEG with focal epileptiform discharges | 11.1% | 1/9 |
| EEG with intermittent slow activity | 11.1% | 1/9 |
| Febrile seizures | 11.1% | 1/9 |
| Focal seizures | 11.1% | 1/9 |
| Frequent falls | 11.1% | 1/9 |
| Gait imbalance | 11.1% | 1/9 |
| Generalized seizures | 11.1% | 1/9 |
| Hypertonia | 11.1% | 1/9 |
| Hyperreflexia | 11.1% | 1/9 |
| Myoclonus | 11.1% | 1/9 |
| Myotonia | 11.1% | 1/9 |
| Obstructive sleep apnea | 11.1% | 1/9 |
| Sleep myoclonus | 11.1% | 1/9 |
| Behavioral problems | 100.0% | 9/9 |
| Irritability | 88.9% | 8/9 |
| Stereotypic behavior | 77.8% | 7/9 |
| Absent speech | 44.4% | 4/9 |
| Developmental regression | 33.3% | 3/9 |
| Autistic behavior | 22.2% | 2/9 |
| Behavioral abnormality | 22.2% | 2/9 |
| Agitation | 11.1% | 1/9 |
| Drooling | 11.1% | 1/9 |
| Exaggerated startle response | 11.1% | 1/9 |
| Sleep disturbance | 11.1% | 1/9 |
| Brain abnormality | 88.9% | 8/9 |
| Abnormal myelination | 44.4% | 4/9 |
| Abnormality of the cerebral white matter | 22.2% | 2/9 |
| Arachnoid cyst | 22.2% | 2/9 |
| Brain atrophy | 22.2% | 2/9 |
| Hypoplasia of the corpus callosum | 22.2% | 2/9 |
| Ventriculomegaly | 22.2% | 2/9 |
| Abnormality of the basal ganglia | 11.1% | 1/9 |
| Delayed myelination | 11.1% | 1/9 |
| Extra-axial cerebrospinal fluid accumulation | 11.1% | 1/9 |
| Progressive microcephaly | 11.1% | 1/9 |
| Facial abnormalities | ||
| Abnormality of the ear | 40.0% | 2/5 |
| Protruding ear | 40.0% | 2/5 |
| Abnormality of the eye | 20.0% | 1/5 |
| Deeply set eye | 20.0% | 1/5 |
| Abnormality of the nose | 60.0% | 3/5 |
| Depressed nasal bridge | 60.0% | 3/5 |
| Anteverted nares | 20.0% | 1/5 |
| Abnormality of the mouth | 40.0% | 2/5 |
| High palate | 40.0% | 2/5 |
| Visual and hearing impairments | ||
| Abnormal hearing | 22.2% | 2/9 |
| Sensorineural hearing impairment | 22.2% | 2/9 |
| Mild hearing impairment | 11.1% | 1/9 |
| Abnormal vision | 100.0% | 9/9 |
| Cataract | 33.3% | 3/9 |
| Abnormality of eye movement | 11.1% | 1/9 |
| Anterior subcapsular cataract | 11.1% | 1/9 |
| Congenital cataract | 11.1% | 1/9 |
| Cortical visual impairment | 11.1% | 1/9 |
| Glaucoma | 11.1% | 1/9 |
| Hyperopic astigmatism | 11.1% | 1/9 |
| Hypermetropia | 11.1% | 1/9 |
| Lamellar cataract | 11.1% | 1/9 |
| Nuclear cataract | 11.1% | 1/9 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 88.9% | 8/9 |
| Gastroesophageal reflux | 44.4% | 4/9 |
| Constipation | 33.3% | 3/9 |
| Dysphagia | 22.2% | 2/9 |
| Feeding difficulties | 11.1% | 1/9 |
| Gastrostomy tube feeding in infancy | 11.1% | 1/9 |
| Oral-pharyngeal dysphagia | 11.1% | 1/9 |
| Severe failure to thrive | 11.1% | 1/9 |
| Vomiting | 11.1% | 1/9 |
| Urogenital | ||
| Abnormality of the urogenital system | 11.1% | 1/9 |
| Abnormality of urine homeostasis | 11.1% | 1/9 |
| Recurrent urinary tract infections | 11.1% | 1/9 |
| Urinary retention | 11.1% | 1/9 |
| Skeleton | ||
| Skeletal abnormalities | 66.7% | 6/9 |
| Clinodactyly of the 5th finger | 11.1% | 1/9 |
| Congenital hip dislocation | 11.1% | 1/9 |
| Contractures of the joints of the lower limbs | 11.1% | 1/9 |
| Dysharmonic delayed bone age | 11.1% | 1/9 |
| Hip contracture | 11.1% | 1/9 |
| Hip Subluxation | 11.1% | 1/9 |
| Hypoplastic fifth toenail | 11.1% | 1/9 |
| Joint hypermobility | 11.1% | 1/9 |
| Overlapping toe | 11.1% | 1/9 |
| Single transverse palmar crease | 11.1% | 1/9 |
| Thoracolumbar scoliosis | 11.1% | 1/9 |
| Toenail dysplasia | 11.1% | 1/9 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 33.3% | 3/9 |
| Hyperpigmented nevi | 22.2% | 2/9 |
| Cafe-au-lait spot | 11.1% | 1/9 |
| Low anterior hairline | 11.1% | 1/9 |
| Thick eyebrow | 11.1% | 1/9 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 11.1% | 1/9 |
| Precocious puberty | 11.1% | 1/9 |
| Abnormality of the metabolic system | 22.2% | 2/9 |
| Abnormality of serum amino acid levels | 22.2% | 2/9 |