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

MIM:617913

Ontology

Human Disease ( DOID:0081263 )

Relationships

is a type of: autosomal recessive intellectual developmental disorder

autosomal recessive intellectual developmental disorder Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models