Neuropathy, Hereditary Sensory and Autonomic, Type Ix, with Developmental Delay (HSAN9)

Alias:

Hsan9

Neuropathy, Hereditary Sensory and Autonomic, 9, with Developmental Delay

Spastic Paraplegia 49, Autosomal Recessive, Formerly

Paraplegia, Spastic, Type 49, Autosomal Recessive

Spastic Paraplegia 49, Autosomal Recessive

Hereditary Spastic Paraplegia 49

Spg49, Formerly

Spg49

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuropathy, Hereditary Sensory and Autonomic, Type Ix, with Developmental Delay, also known as hsan9, is related to hereditary spastic paraplegia 49 and hereditary sensory and autonomic neuropathy due to tecpr2 mutation. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Ix, with Developmental Delay is TECPR2 (Tectonin Beta-Propeller Repeat Containing 2). Affiliated tissues include brain and lung, and related phenotypes are intellectual disability and short neck

Related ID：

MALACARDS：NRP071

OMIM：615031

MESH：D015419