Genetics

Isolated congenital asplenia

TRPM1 gene

STING-associated vasculopathy with onset in infancy

Malonyl-CoA decarboxylase deficiency

RPS26 gene

Hereditary hyperekplexia

CARD14 gene

Autosomal recessive primary microcephaly

LHX1 gene

SGO1 gene

Mayer-Rokitansky-Küster-Hauser syndrome

TREM2 gene