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Hereditary spastic paraplegia 49

Synonyms
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY; Spastic paraplegia 49, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability
TECPR2-related hereditary sensory and autonomic neuropathy with intellectual disability (TECPR2-HSAN with ID) is characterized by developmental delay and subsequent intellectual disability, behavioral abnormalities, neurologic manifestations (muscular hypotonia, sensory neuropathy with lower-limb hypo- or areflexia and ataxic gait), and autonomic dysfunction (including central hypoventilation and apnea, gastrointestinal dysmotility, dysphagia, and gastroesophageal reflux disease with recurrent aspiration). To date, more than 30 individuals with TECPR2-HSAN with ID have been identified.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Gali Heimer
Sonja Neuser
Bruria Ben-Zeev
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Available tests

25 tests are in the database for this condition.

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Clinical tests (25 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HSAN9, KIAA0329, SPG49, TECPR2
    Summary: tectonin beta-propeller repeat containing 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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