neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections

Term ID

DOID:0081465

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, failure to thrive with poor overall growth, delayed walking or inability to walk, and severe to profoundly impaired intellectual development with absent or poor speech, and that has_material_basis_in homozygous mutation in the EIPR1 gene on chromosome 2p25. https://pubmed.ncbi.nlm.nih.gov/41058046/

References

• MIM:621622

Ontology

Human Disease   ( DOID:0081465 )