Term ID: | 7205 |
Name: | Microcephaly with spastic quadriplegia |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D008831|MESH:D011782 |
TreeNumbers: | C05.660.207.620/C537546 |C10.500.507.400.500/C537546 |C10.597.622.760/C537546 |C16.131.621.207.620/C537546 |C16.131.666.507.400.500/C537546 |C23.888.592.636.786/C537546 |
Synonyms: | Recessive microcephaly with spastic quadriplegia |
Slim Mappings: | Congenital abnormality|Musculoskeletal disease|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: C537546
MeSH: C537546
OMIM: 251280;
Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | |