Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome (IDMDC)

Alias:

Spastic Paraplegia 18, Autosomal Recessive

Idmdc

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Gene & Mutation

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References Literature

Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome, also known as spastic paraplegia 18, autosomal recessive, is related to spastic paraplegia 18b, autosomal recessive and hereditary spastic paraplegia 18. An important gene associated with Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome is ERLIN2 (ER Lipid Raft Associated 2). Related phenotypes are developmental regression and intellectual disability, severe

Related ID：

MALACARDS：RCS010