Seckel syndrome 2

MONDO:0011715

Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.

Also known as: RBBP8 Seckel syndrome, SCKL2, Seckel syndrome 2, Seckel syndrome caused by mutation in RBBP8, Seckel syndrome type 2, Seckel-type dwarfism 2, microcephalic primordial dwarfism 2

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Broader categories

Disease (679) Musculoskeletal system disorder (207) Hereditary disease (176) Bone disorder (51) Syndromic disease (25) Human disease (14) Autosomal recessive disease (4) Skeletal system disorder (4) Disease of genetic or genomic mechanism (2) Skeletal dysplasia (1)

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