Recessive KLHL7-related disorder

Autosomal recessive

Reflex epilepsy

Childhood

Refractory cytopenia with multilineage dysplasia

Adult

Regional variant of Guillain-Barré syndrome

Multigenic/multifactorial, Not applicable

All ages

Renal cell carcinoma

Not applicable

Adult

Scleroderma

Not applicable

All ages

Severe combined immunodeficiency

Autosomal recessive, X-linked recessive

Infancy, Neonatal

Severe congenital neutropenia

Autosomal dominant, Autosomal recessive, X-linked recessive

Childhood

Short bowel syndrome

Short rib-polydactyly syndrome

Autosomal recessive

Antenatal, Neonatal

Sialidosis

Autosomal recessive

All ages

Soft tissue sarcoma

Spinal dysraphism with a posterior meningocele

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Split cord malformation

Adolescent, Adult, Childhood, Infancy

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

All ages

Spondylometaphyseal dysplasia

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy

Superficial pemphigus

Not applicable

All ages

Syringomyelia

Not applicable

All ages

Systemic mastocytosis

Not applicable

All ages

Tuberculosis

Not applicable

All ages

Unspecified mitochondrial disorder

Autosomal recessive, X-linked recessive

Visceral arteriovenous malformation

Not applicable

X-linked Charcot-Marie-Tooth disease

X-linked dominant, X-linked recessive

X-linked ichthyosis syndrome

Not applicable, X-linked dominant, X-linked recessive