PhenomeGene — Human Disease Gene Website SeriesKDELR2

Graph and Chart

FindingPercentageCases
Gender
Male66.7%6/9
Female33.3%3/9
Indifferent0%0/9
Unknown0%0/9
General
Birth Length0%0/9
Birth Weight0%0/9
Birth Head circumference0%0/9
66.7%6/9
77.8%7/9
22.2%2/9
77.8%7/9
22.2%2/9
Intellectual disability0%0/9
Severity of intellectual disability0%0/2
Neurology
55.6%5/9
Behavioral problems0%0/9
Brain abnormality0%0/9
Facial abnormalities
Abnormality of the ear0%0/9
33.3%3/9
11.1%1/9
33.3%3/9
Visual and hearing impairments
Abnormal hearing0%0/9
Abnormal vision0%0/9
Heart
22.2%2/9
Pulmonary
11.1%1/9
Gastrointestinal
11.1%1/9
Urogenital
Urogenital0%0/9
Skeleton
100%9/9
Skin / Hair / Nails
22.2%2/9
Endocrine / Immunological / Metabolic
Endocrine0%0/9
Metabolic0%0/9
11.1%1/9
Neoplasia
11.1%1/9
Inheritance
77.8%7/9