PhenomeGene — Human Disease Gene Website SeriesADAMTSL2 autosomal recessive

Graph and Chart

FindingPercentageCases
Gender
Male47.4%9/19
Female52.6%10/19
Indifferent0%0/19
Unknown0%0/19
General
5.3%1/19
5.3%1/19
Birth Head circumference0%0/19
26.3%5/19
15.8%3/19
5.3%1/19
5.3%1/19
Speech delay0%0/19
Intellectual disability0%0/19
Neurology
36.8%7/19
Behavioral problems0%0/19
5.3%1/19
Facial abnormalities
10.5%2/19
36.8%7/19
36.8%7/19
36.8%7/19
Visual and hearing impairments
Abnormal hearing0%0/19
15.8%3/19
Heart
68.4%13/19
Pulmonary
42.1%8/19
Gastrointestinal
15.8%3/19
Urogenital
5.3%1/19
Skeleton
68.4%13/19
Skin / Hair / Nails
26.3%5/19
Endocrine / Immunological / Metabolic
Endocrine0%0/19
Metabolic0%0/19
15.8%3/19
Neoplasia
Neoplasia0%0/19
Inheritance
100%19/19