Serous cystadenocarcinoma of pancreas

Not applicable

Adult

Serous cystadenoma of childhood

Childhood

Serrated polyposis syndrome

Autosomal dominant, Multigenic/multifactorial, Unknown

Adult, Elderly

Severe Canavan disease

Autosomal recessive

Infancy, Neonatal

Severe X-linked intellectual disability, Gustavson type

X-linked recessive

Infancy, Neonatal

Severe X-linked mitochondrial encephalomyopathy

X-linked recessive

Infancy, Neonatal

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

Autosomal dominant, Not applicable

Childhood

Severe acute respiratory syndrome

Not applicable

All ages

Severe autosomal recessive macrothrombocytopenia

Autosomal recessive

Infancy

Severe combined immunodeficiency

Autosomal recessive, X-linked recessive

Infancy, Neonatal

Severe combined immunodeficiency due to CORO1A deficiency

Autosomal recessive

Childhood, Infancy, Neonatal

Severe combined immunodeficiency due to CTPS1 deficiency

Autosomal recessive

Childhood, Infancy, Neonatal

Severe combined immunodeficiency due to DCLRE1C deficiency

Autosomal recessive

Infancy, Neonatal

Severe combined immunodeficiency due to DNA-PKcs deficiency

Autosomal recessive

Infancy, Neonatal

Severe combined immunodeficiency due to FOXN1 deficiency

Autosomal recessive

Infancy, Neonatal

Severe combined immunodeficiency due to LAT deficiency

Autosomal recessive

Infancy

Severe combined immunodeficiency due to adenosine deaminase deficiency

Autosomal recessive

Infancy, Neonatal

Severe combined immunodeficiency due to complete RAG1/2 deficiency

Autosomal recessive

Infancy

Severe congenital hypochromic anemia with ringed sideroblasts

Unknown

Infancy, Neonatal

Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome

Autosomal recessive

Severe congenital nemaline myopathy

Autosomal recessive

Infancy, Neonatal

Severe congenital neutropenia

Autosomal dominant, Autosomal recessive, X-linked recessive

Childhood

Severe congenital neutropenia due to G6PC3 deficiency

Autosomal recessive

Infancy, Neonatal

Severe congenital neutropenia due to JAGN1 deficiency

Autosomal recessive

Infancy, Neonatal