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Ontology Browser
Term:
primary autosomal recessive microcephaly 13 (DOID:0070283)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
primary autosomal recessive microcephaly 1  
primary autosomal recessive microcephaly 10  
primary autosomal recessive microcephaly 11  
primary autosomal recessive microcephaly 12  
primary autosomal recessive microcephaly 13  
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. (DO)
primary autosomal recessive microcephaly 14  
primary autosomal recessive microcephaly 15  
primary autosomal recessive microcephaly 16  
primary autosomal recessive microcephaly 17  
primary autosomal recessive microcephaly 19  
primary autosomal recessive microcephaly 2 with or without cortical malformations  
primary autosomal recessive microcephaly 20  
primary autosomal recessive microcephaly 21  
primary autosomal recessive microcephaly 22  
primary autosomal recessive microcephaly 23  
primary autosomal recessive microcephaly 24  
primary autosomal recessive microcephaly 25  
primary autosomal recessive microcephaly 28  
primary autosomal recessive microcephaly 29  
primary autosomal recessive microcephaly 3  
primary autosomal recessive microcephaly 30  
primary autosomal recessive microcephaly 4  
primary autosomal recessive microcephaly 5  
primary autosomal recessive microcephaly 6  
primary autosomal recessive microcephaly 7  
primary autosomal recessive microcephaly 8  
primary autosomal recessive microcephaly 9  

Synonyms
Exact Synonyms: CENPE-RELATED CONDITION ;   MCPH13 ;   MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
Xrefs: MIM:616051 ;   MONDO:0014473
Definition Sources: PMID:24748105 "DO" "DO"

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