microcephaly, growth deficiency, seizures, and brain malformations

Term ID

DOID:0081051

Synonyms

Definition

A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22. https://pubmed.ncbi.nlm.nih.gov/26416026/

References

• MIM:618346

Ontology

Human Disease   ( DOID:0081051 )