Disease #00142

Official abbreviation SCA-5
Name ataxia, spinocerebellar, type 5 (SCA-5)
OMIM ID 600224
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 4
Phenotype entries for this disease 3
Associated with 1 gene SPTBN2
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00001238 - - - F yes Egypt - - 0 - - SCA-5 - SPTBN2 SPTBN2 1 1 Hanno Bolz
00054871 - - - - - - - - 0 - - SCA-5 ataxia, neuropathy, cataract OPA1 OPA1 1 1 Erik-Jan Kamsteeg
00106553 606181126 - Mother is also affected F ? (Germany) - - 0 no - SCA-1, SCA-10, SCA-11, SCA-14, SCA-17, SCA-27, SCA-5, SCA-6, SCA-7, SCA-8 - FGF14, PRKACG, PRKCG, SPTBN2, TTBK2 PRKCG 1 1 Friederike Hein
00143194 - - - F no Italy - - 0 - - SCA-5 cerebellar atrophy, Cerebellar ataxia, Moderate global developmental delay, EEG abnormality, Dolichocephaly, Convergent strabismus, Infantile muscular hypotonia, Hyporeflexia of lower limbs SPTBN2 SPTBN2 1 1 Enza Maria Valente
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