FAT4-related neurodevelopmental disorder
MONDO:0100603Mondo
Findings
No curated finding names FAT4-related neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neurodevelopmental disorder, frequently presenting with lymphatic dysplasia, craniofacial and limb anomalies, and secondary lymphopenia from altered immune cell trafficking, in which the cause of the disease is a variation in the FAT4 gene.
Definition from the Mondo Disease Ontology (MONDO:0100603), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FAT4HGNC:23109
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025