Features include always present findings: Delayed speech and language development and Global developmental delay; and common findings: Low muscle tone (hypotonia), Motor delay, and Intellectual disability. 25 total HPO annotations.

CUX1 encodes cut like homeobox 1 (1,505 aa). Transcription factor involved in the control of neuronal differentiation in the brain. Regulates dendrite development and branching, and dendritic spine formation in cortical layers II-III. Highest expression in Uterus (47.9 TPM) and Brain Cerebellar Hemisphere (39.5 TPM).

Global developmental delay with or without impaired intellectual development is associated with mutations in the CUX1 gene on chromosome 7.

The CUX1 protein participates in CUX1(1-339)-FGFR1(429-822) fusion, CUX1(1-339)-p-FGFR1(429-822) fusion, and Signaling by cytosolic FGFR1 fusion mutants pathways.

CUX1 is classified as a druggable target (Clinically Actionable category) with score 13.1.

Genetic testing for CUX1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for global developmental delay with or without impaired intellectual development has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 3 common features.

No clinical trials have been registered for global developmental delay with or without impaired intellectual development.

203 publications have been identified in PubMed for global developmental delay with or without impaired intellectual development. Kisho has analyzed 142 by research type. Research spans Basic Science / Preclinical (27%), Review / Meta-Analysis (25%), and Case Report / Case Series (15%).