PhenomeGene — Human Disease Gene Website SeriesSETBP1 Schinzel-Giedion syndrome

Graph and Chart

FindingPercentageCases
Gender
Male55.3%26/47
Female44.7%21/47
Indifferent0%0/47
Unknown0%0/47
General
Birth Length0%0/38
5.3%2/38
Birth Head circumference0%0/37
7.9%3/38
Current Weight0%0/38
18.4%7/38
2.6%1/38
2.6%1/38
Intellectual disability0%0/38
Severity of intellectual disability0%0/37
Neurology
95.2%40/42
Behavioral problems0%0/42
97.6%41/42
Facial abnormalities
92.9%39/42
95.2%40/42
92.9%39/42
85.7%36/42
Visual and hearing impairments
54.8%23/42
50%21/42
Heart
42.9%18/42
Gastrointestinal
16.7%7/42
Urogenital
95.2%40/42
Skeleton
92.9%39/42
Skin / Hair / Nails
61.9%26/42
Endocrine / Immunological / Metabolic
9.5%4/42
66.7%28/42
4.8%2/42
Neoplasia
31%13/42
Inheritance
Inheritance0%0/42