Spastic Paraplegia 18b, Autosomal Recessive (SPG18B)

Alias:

Spastic Paraplegia 18, Autosomal Recessive

Spg18

Idmdc

Intellectual Disability, Motor Dysfunction, and Joint Contractures

Intellectual Disability Motor Dysfunction and Joint Contractures

Autosomal Spastic Paraplegia Type 18

Hereditary Spastic Paraplegia 18

Paraplegia, Spastic, Type 18

Spg18b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spastic Paraplegia 18b, Autosomal Recessive, also known as spastic paraplegia 18, autosomal recessive, is related to hereditary spastic paraplegia 18 and recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome. An important gene associated with Spastic Paraplegia 18b, Autosomal Recessive is ERLIN2 (ER Lipid Raft Associated 2). Affiliated tissues include brain and skeletal muscle, and related phenotypes are intellectual disability and hyperreflexia

Related ID：

MALACARDS：SPS261

OMIM：611225

MESH：D015419