PhenomeGene — Human Disease Gene Website SeriesEP300

Graph and Chart

FindingPercentageCases
Gender
Male55.6%10/18
Female44.4%8/18
Indifferent0%0/18
Unknown0%0/18
General
11.1%2/18
22.2%4/18
5.6%1/18
44.4%8/18
33.3%6/18
100%18/18
83.3%15/18
72.2%13/18
77.8%14/18
66.7%8/12
Neurology
27.8%5/18
44.4%8/18
27.8%5/18
Facial abnormalities
33.3%6/18
88.9%16/18
83.3%15/18
72.2%13/18
Visual and hearing impairments
11.1%2/18
66.7%12/18
Heart
27.8%5/18
Pulmonary
Abnormality of the lungs0%0/18
Gastrointestinal
22.2%4/18
Urogenital
27.8%5/18
Skeleton
94.4%17/18
Skin / Hair / Nails
44.4%8/18
Endocrine / Immunological / Metabolic
5.6%1/18
5.6%1/18
11.1%2/18
Neoplasia
16.7%3/18