Autosomal recessive spastic paraplegia type 69

MedGen UID:: 1679277
•Concept ID:: C5190577
•: Disease or Syndrome

Synonyms:	autosomal recessive spastic paraplegia type 69; SPG69
SNOMED CT:	Autosomal recessive spastic paraplegia type 69 (782725000)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0018421
Orphanet:	ORPHA401830

Definition

Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal recessive spastic paraplegia type 69

Autosomal recessive complex spastic paraplegia
- Autosomal recessive spastic paraplegia type 69

MedGen

National Center for Biotechnology Information

Send to:

Autosomal recessive spastic paraplegia type 69

Definition

Term Hierarchy

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Recent activity