ReNU syndrome

Term ID

DOID:0061190

Synonyms

• neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA)

Definition

An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24. https://pubmed.ncbi.nlm.nih.gov/38821540/

References

• MIM:620851

Ontology

Human Disease   ( DOID:0061190 )