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hereditary spastic paraplegia 82

Summary

Synonym

SPG82
spastic paraplegia 82 autosomal recessive

Definition

A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.

Super Class

autosomal recessive disease hereditary spastic paraplegia

External Links

Disease Ontology: DOID:0112343

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
5833	PCYT2	phosphate cytidylyltransferase 2, ethanolamine	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 12 in total

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HPO ID	HPO Term
HP:0002059	Cerebral atrophy
HP:0000750	Delayed speech and language development
HP:0007663	Reduced visual acuity
HP:0000639	Nystagmus
HP:0003487	Babinski sign
HP:0001257	Spasticity
HP:0000007	Autosomal recessive inheritance
HP:0002376	Developmental regression
HP:0001249	Intellectual disability
HP:0007359	Focal-onset seizure