Disease #05927 (SPOAN (paraplegia, spastic, optic atrophy, and neuropathy (SPOAN)), OMIM:609541)

Official abbreviation SPOAN
Name paraplegia, spastic, optic atrophy, and neuropathy (SPOAN)
OMIM ID 609541
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene KLC2
Associated tissues -
Disease features -
Remarks -
Date created 2021-05-04 08:53:59 +02:00 (CEST)
Date last edited N/A


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00371664 patients PubMed: Melo 2015 73 patients F;M - Brazil - - - - - SPOAN progressive spastic paraplegia in infancy, progressive motor and sensory axonal neuropathy in late childhood/early adolescence leading to severe motor disability; >15y-wheelchair bound, progressive joint contractures, spine deformities; subnormal vision secondary to apparently non-progressive congenital optic atrophy, dysarthria starting third decade of life, exacerbated acoustic startle response; no intellectual disability KLC2 ACTN3, CLCF1, KLC2, MRPL11 4 73 Johan den Dunnen
00371665 Family PubMed: Melo 2015 family, 2 affected sibs - - Egypt - - - - - SPOAN - KLC2 KLC2 1 2 Johan den Dunnen
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