| Metadata | |
|---|---|
| ID | DOID:0070013 |
| Name | Seckel syndrome 2 |
| Definition | A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. https://www.ncbi.nlm.nih.gov/pubmed/21998596 |
| Xrefs | |
| Synonyms |
microcephalic primordial dwarfism 2 [EXACT] SCKL2 [EXACT] Seckel-type dwarfism 2 [EXACT] |
| Parent Relationships |
is_a Seckel syndrome |