| Metadata | |
|---|---|
| ID | DOID:0081100 |
| Name | spastic paraplegia with deafness |
| Definition | A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. https://pubmed.ncbi.nlm.nih.gov/3741213/, https://pubmed.ncbi.nlm.nih.gov/27271711/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Spastic paraparesis-deafness syndrome [EXACT] Wells Jankovic Syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance existence starts during some Childhood onset |