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Features include always present findings: Neurogenic bladder, Microcephaly, Recurrent urinary tract infections, and Toe syndactyly and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 3 | Delayed speech and language development, Hypoplasia of the brainstem, Focal tonic seizure |
EN1 encodes engrailed homeobox 1 (392 aa). Required for proper formation of the apical ectodermal ridge and correct dorsal-ventral patterning in the limb Highest expression in Skin Sun Exposed Lower leg (15.6 TPM) and Cells Cultured fibroblasts (13.3 TPM).
ENDOVE syndrome, limb-brain type is associated with mutations in the EN1 gene on chromosome 2.
EN1 is classified as a druggable target with score 1.5.
Genetic testing for EN1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 20 always present features.
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about ENDOVE syndrome, limb-brain type
2 |
Toe syndactyly, Aplasia of the 3rd finger |
Bones and joints | 2 | Joint hypermobility, Bone infection (osteomyelitis) |
Muscles | 2 | Low muscle tone (hypotonia), Generalized hypotonia |
Head and neck | 1 | Microcephaly |
Kidneys and urinary system | 1 | Recurrent urinary tract infections |
Blood and immune system | 1 | Recurrent urinary tract infections |
Digestive system | 1 | Gastrojejunal tube feeding in infancy |
Growth and development | 1 | Failure to thrive |