Spastic Paraplegia 63, Autosomal Recessive (SPG63)

Alias:
Hereditary Spastic Paraplegia 63
Spg63
Paraplegia, Spastic, Type 63, Autosomal Recessive
Autosomal Recessive Spastic Paraplegia Type 63
Autosomal Recessive Spastic Paraplegia 63
Spastic Paraplegia 63
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spastic Paraplegia 63, Autosomal Recessive, also known as hereditary spastic paraplegia 63, is related to pontocerebellar hypoplasia, type 9 and paraplegia. An important gene associated with Spastic Paraplegia 63, Autosomal Recessive is AMPD2 (Adenosine Monophosphate Deaminase 2). Affiliated tissues include brain and skeletal muscle, and related phenotypes are spasticity and hyperreflexia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
11
49
5

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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