Features include always present findings: Hypertonia, Anteverted nares, Brachydactyly, and Coarse facial features and others; and common findings: Seizure, Protruding tongue, Ventricular septal defect, and Hydrocephalus and others. 31 total HPO annotations.

FTO encodes FTO alpha-ketoglutarate dependent dioxygenase (505 aa). RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis. Highest expression in Brain Cerebellar Hemisphere (13.6 TPM) and Artery Tibial (10.8 TPM).

Lethal polymalformative syndrome, Boissel type is associated with mutations in the FTO gene on chromosome 16.

The FTO protein participates in RNA demethylases demethylate N6-methyladenosine RNA pathway.

FTO is classified as a druggable target (Enzyme category) with score 3.3.

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

Biomarker and diagnostic research for lethal polymalformative syndrome, Boissel type has been reported in the published literature.

Phenotype severity distribution: 16 always present features, 11 common features.

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

No clinical trials have been registered for lethal polymalformative syndrome, Boissel type.

34 publications have been identified in PubMed for lethal polymalformative syndrome, Boissel type. Research spans Case Report / Case Series (59%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (18%).