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Metadata
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

MESH:C537534

MIM:606744

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

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