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Human Disease

neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities

Term ID
DOID:0081263
Synonyms
  • NEDMCR syndrome
Definition
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. https://pubmed.ncbi.nlm.nih.gov/35861185/
References
Ontology
Human Disease   ( DOID:0081263 )
Relationships
is a type of
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Genes Involved
Zebrafish Models