Term Name: | Seckel syndrome 2 |
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Synonyms: | microcephalic primordial dwarfism 2, SCKL2, Seckel-type dwarfism 2 |
Definition: | A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. |
Ontology: | Human Disease [DOID:0070013] ( DOID:0070013 ) |