| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (5.0%) |
30017992 |
Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14. Miura S, Kosaka K, Fujioka R, Uchiyama Y, Shimojo T, Morikawa T, Irie A, Taniwaki T, Shibata H. Eur J Med Genet. 2019;62(3):172-176. |
| Ataxia | ||
| FGF14 | ||
| c|SUB|A|529|T p|SUB|K|177|X | ||
| Codon, Nonsense Fibroblast Growth Factor Homo sapiens Male Spinocerebellar Degeneration | ||
| 1 (5.0%) |
29416937 (5801325) |
Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype. Groth CL, Berman BD. Tremor Other Hyperkinet Mov (N Y). 2018;8:534. |
| Nystagmus | ||
| FGF14 | ||
| Homo sapiens Male Phenotype Spinocerebellar Degeneration | ||
| 1 (5.0%) |
19471976 |
SCA27 caused by a chromosome translocation: further delineation of the phenotype. Misceo D, Fannemel M, Baroy T, Roberto R, Tvedt B, Jaeger T, Bryn V, Stromme P, Frengen E. Neurogenetics. 2009;10(4):371-4. |
| Microcephaly | ||
| FGF14 | ||
| Adult Animals Ataxia, Spinocerebellar Base Sequence Child, Preschool Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 5 Fibroblast Growth Factor Homo sapiens Intellectual Disability Male Mice, Knockout Molecular Sequence Data Mus Mutation Phenotype Protein Isoforms | ||
| 1 (5.0%) |
16211615 |
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype. Brusse E, de Koning I, Maat-Kievit A, Oostra BA, Heutink P, van Swieten JC. Mov Disord. 2006;21(3):396-401. |
| Ataxia | ||
| p|SUB|F|145|S;RS#:104894393 | ||
| Adult Chromosomes, Human, Pair 13 Females Fibroblast Growth Factor Homo sapiens Male Middle Aged Mutation Phenotype Spinocerebellar Degeneration |
Total: 20
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000640 | Gaze-evoked nystagmus | Very frequent (99-80%) |
| HP:0001260 | Dysarthria | Very frequent (99-80%) |
| HP:0001337 | Tremor | Very frequent (99-80%) |
| HP:0000718 | Aggressive behavior | Frequent (79-30%) |
| HP:0001288 | Gait disturbance | Frequent (79-30%) |
| HP:0001761 | Pes cavus | Frequent (79-30%) |
| HP:0002066 | Gait ataxia | Frequent (79-30%) |
| HP:0002070 | Limb ataxia | Frequent (79-30%) |
| HP:0002078 | Truncal ataxia | Frequent (79-30%) |
| HP:0002354 | Memory impairment | Frequent (79-30%) |
| HP:0002355 | Difficulty walking | Frequent (79-30%) |
| HP:0003390 | Sensory axonal neuropathy | Frequent (79-30%) |
| HP:0000486 | Strabismus | Occasional (29-5%) |
| HP:0000642 | Red-green dyschromatopsia | Occasional (29-5%) |
| HP:0000716 | Depressivity | Occasional (29-5%) |
| HP:0001256 | Intellectual disability, mild | Occasional (29-5%) |
| HP:0001272 | Cerebellar atrophy | Occasional (29-5%) |
| HP:0002378 | Hand tremor | Occasional (29-5%) |
| HP:0002304 | Akinesia | Very rare (4-1%) |
| HP:0010526 | Dysgraphia | Very rare (4-1%) |
Total: 5
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001251 | Ataxia | 2 |
| HP:0001300 | Parkinsonism | 1 |
| HP:0001337 | Tremor | 1 |
| HP:0002131 | Episodic ataxia | 1 |
| HP:0100543 | Cognitive impairment | 1 |