PhenomeGene — Human Disease Gene Website SeriesPOC5

Graph & Charts

FindingPercentageCases
Gender
Male23.1%3/13
Female76.9%10/13
Indifferent0%0/13
Unknown0%0/13
General
Birth Length0%0/13
15.4%2/13
Birth Head circumference0%0/13
23.1%3/13
7.7%1/13
7.7%1/13
Motor delay0%0/13
Speech delay0%0/13
Intellectual disability0%0/13
Neurology
92.3%12/13
23.1%3/13
7.7%1/13
Facial abnormalities
23.1%3/13
7.7%1/13
23.1%3/13
53.8%7/13
Visual and hearing impairments
7.7%1/13
92.3%12/13
Heart
23.1%3/13
Pulmonary
Abnormality of the lungs0%0/13
Gastrointestinal
84.6%11/13
Urogenital
69.2%9/13
Skeleton
84.6%11/13
Skin / Hair / Nails
76.9%10/13
Endocrine / Immunological / Metabolic
92.3%12/13
30.8%4/13
7.7%1/13
Neoplasia
Neoplasia0%0/13
Inheritance
100%13/13