SCA4

SPINOCEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY

http://purl.bioontology.org/ontology/OMIM/600223

SCA4

SPINOCEREBELLAR ATAXIA, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY

C0752122

16q22.3-q23.1

SCA4

ZFHX3

ATFB8

ATBF1

http://purl.bioontology.org/ontology/OMIM/MTHU077465

http://purl.bioontology.org/ontology/OMIM/MTHU004522

http://purl.bioontology.org/ontology/OMIM/MTHU000329

http://purl.bioontology.org/ontology/OMIM/MTHU000474

http://purl.bioontology.org/ontology/OMIM/MTHU001775

http://purl.bioontology.org/ontology/OMIM/MTHU042250

http://purl.bioontology.org/ontology/OMIM/MTHU036543

http://purl.bioontology.org/ontology/OMIM/MTHU006937

http://purl.bioontology.org/ontology/OMIM/MTHU001817

http://purl.bioontology.org/ontology/OMIM/MTHU000136

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU006565

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU004026

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU002917

http://purl.bioontology.org/ontology/OMIM/MTHU002478

http://purl.bioontology.org/ontology/OMIM/MTHU036392

http://purl.bioontology.org/ontology/OMIM/MTHU077466

http://purl.bioontology.org/ontology/OMIM/MTHU000902

http://purl.bioontology.org/ontology/OMIM/MTHU006509

http://purl.bioontology.org/ontology/OMIM/MTHU077467

http://purl.bioontology.org/ontology/OMIM/MTHU040727

http://purl.bioontology.org/ontology/OMIM/MTHU000630

http://purl.bioontology.org/ontology/OMIM/MTHU001776

http://purl.bioontology.org/ontology/OMIM/MTHU005095

http://purl.bioontology.org/ontology/OMIM/MTHU077464

http://purl.bioontology.org/ontology/OMIM/MTHU003514

http://purl.bioontology.org/ontology/OMIM/MTHU004054

http://purl.bioontology.org/ontology/OMIM/MTHU005725

http://purl.bioontology.org/ontology/OMIM/MTHU022723

http://purl.bioontology.org/ontology/OMIM/MTHU000479

http://purl.bioontology.org/ontology/OMIM/MTHU036372

http://purl.bioontology.org/ontology/OMIM/MTHU037360

http://purl.bioontology.org/ontology/OMIM/MTHU000928

Phenotype description, molecular basis known.

600223

3

pound

SPINOCEREBELLAR ATAXIA 4

Caused by expanded trinucleotide repeat (GGCn) in the zinc finger homeobox 3 gene (ZFHX3, 104155.0003) [MOLECULAR BASIS]

Onset in fourth or fifth decades (earlier onset has been reported) [MISCELLANEOUS]

Genetic anticipation [MISCELLANEOUS]

Progressive disorder [MISCELLANEOUS]

T047