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Ontology Browser

Term:
primary autosomal recessive microcephaly 15 (DOID:0070277)
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  
primary autosomal recessive microcephaly 14  
primary autosomal recessive microcephaly 15  
A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. (DO)
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 26  
Primary Autosomal Recessive Microcephaly 27  
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: MCPH15 ;   NEDMISBA ;   neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
Primary IDs: OMIM:616486
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/30043326/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26005868 "DO" "DO"

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