Disease #03386 (SPAX4 (ataxia, spastic, type 4, autosomal dominant (SPAX-4)), OMIM:613672)

Official abbreviation SPAX4
Name ataxia, spastic, type 4, autosomal dominant (SPAX-4)
OMIM ID 613672
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene MTPAP
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00054866 - - - - - - - - 0 - - SPAX4 ataxia, myoclonus, dystonia, epilepsy, high CK GOSR2 GOSR2 1 1 Erik-Jan Kamsteeg
00054869 - - - - - - - - 0 - - SPAX4 ataxia, ovarian dysgenesis, deafness, neuropathy, ID C10orf2 C10orf2 1 1 Erik-Jan Kamsteeg
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