PhenomeGene — Human Disease Gene Website SeriesDNMT3A gain of function

Graph and Chart

FindingPercentageCases
Gender
Male66.7%2/3
Female33.3%1/3
Indifferent0%0/3
Unknown0%0/3
General
66.7%2/3
66.7%2/3
Birth Head circumference0%0/3
100%3/3
100%3/3
100%3/3
100%3/3
100%3/3
Intellectual disability0%0/3
Severity of intellectual disability0%0/3
Neurology
100%3/3
Behavioral problems0%0/3
Brain abnormality0%0/3
Facial abnormalities
Abnormality of the ear0%0/3
33.3%1/3
Abnormality of the nose0%0/3
Abnormality of the mouth0%0/3
Visual and hearing impairments
Abnormal hearing0%0/3
33.3%1/3
Heart
Abnormality of the heart0%0/3
Gastrointestinal
33.3%1/3
Urogenital
33.3%1/3
Skeleton
100%3/3
Skin / Hair / Nails
66.7%2/3
Endocrine / Immunological / Metabolic
Endocrine0%0/3
Metabolic0%0/3
Immune0%0/3
Neoplasia
Neoplasia0%0/3
Inheritance
100%3/3