Spondyloepiphyseal dysplasia, Stanescu type

Autosomal dominant

Childhood

Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

Unknown

Infancy, Neonatal

Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome

Autosomal recessive

Infancy, Neonatal

Spondylometaphyseal dysplasia

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy

Spondylometaphyseal dysplasia, 'corner fracture' type

Autosomal dominant

Childhood, Infancy, Neonatal

Spondylometaphyseal dysplasia, A4 type

Autosomal recessive

Infancy

Spondylometaphyseal dysplasia, Golden type

X-linked recessive

No data available

Spondylometaphyseal dysplasia, Kozlowski type

Autosomal dominant

Infancy

Spondylometaphyseal dysplasia, Schmidt type

Autosomal dominant

Adolescent, Childhood, Infancy

Spondylometaphyseal dysplasia, Sedaghatian type

Autosomal recessive

Antenatal, Neonatal

Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome

Autosomal recessive

Infancy

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Autosomal recessive

No data available

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

Autosomal recessive

Neonatal

Spondyloperipheral dysplasia-short ulna syndrome

Autosomal dominant

Infancy, Neonatal

Spontaneous intracranial hypotension

Not applicable

Adolescent, Adult, Childhood, Elderly

Spontaneous periodic hypothermia

Unknown

All ages

Sporadic Creutzfeldt-Jakob disease

Not applicable

Adult, Elderly

Sporadic adult-onset ataxia of unknown etiology

Not applicable

Adult, Elderly

Sporadic fatal insomnia

Adult, Elderly

Sporadic fetal brain disruption sequence

Not applicable

Antenatal

Sporadic infantile bilateral striatal necrosis

Not applicable

All ages

Sporadic pheochromocytoma/secreting paraganglioma

Not applicable

Adolescent, Adult, Childhood

Sporadic porphyria cutanea tarda

Multigenic/multifactorial

Sporotrichosis

Not applicable

All ages