MeSH Browser

MeSH Supplementary: Seckel syndrome 1
Unique ID: C537533
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537533
Entry Term(s): Bird-headed dwarfism; Microcephalic Primordial Dwarfism I; Microcephalic primordial dwarfism 1; Nanocephalic dwarfism; Seckel-type dwarfism
Registry Number: 0
Heading Mapped to: *Dwarfism; *Microcephaly; *Facies
Frequency: 37
Note: A rare hereditary autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with INTELLECTUAL DISABILITY, and a characteristic 'bird-headed' facial appearance. Mutations in the ATR gene have been identified. OMIM: 210600
Date of Entry: 2010/11/13
Revision Date: 2015/08/18

Concept UI: M0531994
Registry Number: 0
Terms: Seckel syndrome 1 Preferred Term
Term UI T742906
Date02/24/2009
LexicalTag NON
ThesaurusID; Microcephalic Primordial Dwarfism I
Term UI T800801
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Seckel-type dwarfism
Term UI T742910
Date02/24/2009
LexicalTag NON
ThesaurusID; Nanocephalic dwarfism
Term UI T742911
Date02/24/2009
LexicalTag NON
ThesaurusID; Microcephalic primordial dwarfism 1
Term UI T742907
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Bird-headed dwarfism
Term UI T742909
Date02/24/2009
LexicalTag NON
ThesaurusID

Seckel syndrome 1 MeSH Supplementary Concept Data 2024