primary autosomal recessive microcephaly 1

Summary
Synonym
  • MCPH1
Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23.
Super Class
primary autosomal recessive microcephaly
External Links
Disease Ontology
DOID:0070285
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6392 SDHD succinate dehydrogenase complex subunit D

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024