SPG16

spastic paraplegia 16 (complicated, X-linked recessive)
OMIM: 300266, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
No list SPG16 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Removed
  • Expert list
Tags
  • locus-type-phenotype-only
  • ensembl_ids_known_missing
  • curated_removed