Metadata | |
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ID | DOID:0070013 |
Name | Seckel syndrome 2 |
Definition | A Seckel syndrome characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. https://www.ncbi.nlm.nih.gov/pubmed/21998596, https://pubmed.ncbi.nlm.nih.gov/11781686/ |
Xrefs | |
Synonyms |
microcephalic primordial dwarfism 2 [EXACT] SCKL2 [EXACT] Seckel-type dwarfism 2 [EXACT] |
Parent Relationships |
is_a Seckel syndrome |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |