Features include always present findings: Transiently decreased total neutrophil count, Bifid ureter, Inguinal hernia, and Retinal coloboma and others; and sometimes findings: Bowing of the legs, Pes planus, Renal dysplasia, and Inner ear hearing loss (sensorineural hearing impairment) and others. 37 total HPO annotations.

FIBP encodes FGF1 intracellular binding protein (364 aa). May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo Highest expression in Cells Cultured fibroblasts (146.5 TPM) and Testis (144.9 TPM).

Tall stature-intellectual disability-renal anomalies syndrome is associated with mutations in the FIBP gene on chromosome 11.

FIBP is classified as a druggable target with score 0.0.

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

Biomarker and diagnostic research for tall stature-intellectual disability-renal anomalies syndrome has been reported in the published literature.

Phenotype severity distribution: 17 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for tall stature-intellectual disability-renal anomalies syndrome.

36 publications have been identified in PubMed for tall stature-intellectual disability-renal anomalies syndrome. Kisho has analyzed 25 by research type. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (8%).