Features include always present findings: Short stature, Global developmental delay, Generalized hypotonia, and Motor delay and others; and common findings: Microcephaly, Status epilepticus, Absent speech, and Delayed ability to walk and others. 14 total HPO annotations.

IQSEC1 encodes IQ motif and Sec7 domain ArfGEF 1 (963 aa). Guanine nucleotide exchange factor for ARF1 and ARF6. Guanine nucleotide exchange factor activity is enhanced by lipid binding. Accelerates GTP binding by ARFs of all three classes. Highest expression in Brain Frontal Cortex BA9 (105.8 TPM) and Brain Cortex (102.0 TPM).

Intellectual developmental disorder with short stature and behavioral abnormalities is associated with mutations in the IQSEC1 gene on chromosome 3.

IQSEC1 is classified as a druggable target with score 0.0.

Genetic testing for IQSEC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder with short stature and behavioral abnormalities has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 7 common features.

No clinical trials have been registered for intellectual developmental disorder with short stature and behavioral abnormalities.

70 publications have been identified in PubMed for intellectual developmental disorder with short stature and behavioral abnormalities. Research spans Case Report / Case Series (31%), Review / Meta-Analysis (26%), and Basic Science / Preclinical (24%).