neurodevelopmental disorder with progressive spasticity and brain abnormalities

Term ID

DOID:0070816

Synonyms

• NEDPSB

Definition

An autosomal recessive intellectual developmental disorder characterized by global developmental delay with moderate to severely impaired intellectual development, poor or absent speech, hypotonia, and delayed walking or inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the EEFSEC gene on chromosome 3q21. https://pubmed.ncbi.nlm.nih.gov/39753114/

References

• MIM:621102
• UMLS_CUI:C6012700

Ontology

Human Disease   ( DOID:0070816 )