Features include always present findings: Low muscle tone (hypotonia), Anxiety, Intellectual disability, and Global developmental delay and others; and common findings: Long philtrum, Strabismus, Short nose, and Aggressive behavior and others. 37 total HPO annotations.

PHIP function has not been fully characterized.

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome is caused by mutations in the PHIP gene on chromosome 6.

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

Biomarker and diagnostic research for PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 15 common features.

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

No clinical trials have been registered for PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome.

35 publications have been identified in PubMed for PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (19%).