neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech

Term ID

DOID:0070811

Synonyms

• NEDGQS

Definition

An autosomal recessive intellectual developmental disorder characterized by global developmental delay, delayed walking or inability to walk, moderate to profoundly impaired intellectual development with poor or absent speech, and poor overall growth, often with microcephaly that has_material_basis_in homozygous mutation in the INPP4A gene gene on chromosome 2q11. https://pubmed.ncbi.nlm.nih.gov/39315527/

References

• MIM:621354
• UMLS_CUI:C6065911

Ontology

Human Disease   ( DOID:0070811 )