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

• OMIM:617913

Ontology

Human Disease   ( DOID:0081263 )