Features include always present findings: Positional foot deformity, Gowers sign, Hypertelorism, and Spinal rigidity and others; and very common findings: Dermal translucency, Downslanted palpebral fissures, Elbow contracture, and Sideways curvature of the spine (scoliosis) and others. 67 total HPO annotations.

FILIP1 encodes filamin A interacting protein 1 (1,213 aa). By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A Highest expression in Muscle Skeletal (25.2 TPM) and Colon Sigmoid (21.2 TPM).

Neuromuscular disorder, congenital, with dysmorphic facies is associated with mutations in the FILIP1 gene on chromosome 6.

FILIP1 is classified as a druggable target with score 0.0.

Genetic testing for FILIP1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 16 always present features, 7 very common features, 16 common features.

No clinical trials have been registered for neuromuscular disorder, congenital, with dysmorphic facies.

8 publications have been identified in PubMed for neuromuscular disorder, congenital, with dysmorphic facies. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Clinical Trial Publication (13%).

Recent Publications

• Maazi M (2025). [PMID: 39420746](https://pubmed.ncbi.nlm.nih.gov/39420746/). *Pediatr Dermatol*. [Case Report / Case Series]

• Vallepu SB (2025). [PMID: 39602055](https://pubmed.ncbi.nlm.nih.gov/39602055/). *Acta Neurol Belg*. [Case Report / Case Series]

• Alzahem TA (2024). [PMID: 38619019](https://pubmed.ncbi.nlm.nih.gov/38619019/). *Ophthalmic Genet*. [Case Report / Case Series]

• Leventoğlu E (2024). [PMID: 38038886](https://pubmed.ncbi.nlm.nih.gov/38038886/). *CEN Case Rep*. [Case Report / Case Series]

• Landau Prat D (2024). [PMID: 37364855](https://pubmed.ncbi.nlm.nih.gov/37364855/). *Can J Ophthalmol*. [Clinical Trial Publication]