NACC1

Graph and Chart

Patient Overview : 9

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 66.7% 6/9
Female 33.3% 3/9
Indifferent 0% 0/9
Unknown 0% 0/9
General    
Birth Length abnormalities 0% 0/9
Birth Weight abnormalities 0% 0/9
Birth Head circumference abnormalities 0% 0/9
Current Height abnormalities 22.2% 2/9
< P3 : Short stature 22.2% 2/9
Current Weight abnormalities 11.1% 1/9
< P3 : Decreased body weight 11.1% 1/9
Current Head circumference abnormalities 66.7% 6/9
< P3 : Microcephaly 66.7% 6/9
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 hypotonia 11.1% 1/9
Central apnea 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
Hyperreflexia 11.1% 1/9
Hypertonia 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