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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Inherited congenital spastic tetraplegia
Inherited congenital spastic quadriplegia
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
ELOVL4-related neuro ichthyosis · Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome
Congenital ichthyosis-microcephalus-tetraplegia syndrome
Congenital ichthyosis-microcephalus-quadriplegia syndrome
MT-ATP6-related mitochondrial spastic paraplegia
Maternally-inherited spastic paraplegia · Maternally-inherited SPG