SOX11-related complex neurodevelopmental disorder with or without congenital anomalies

MONDO:0100626

An autosomal dominant disorder caused by pathogenic variation in SOX11 characterized by developmental delay, impaired intellectual development and microcephaly. Affected individuals may also have oculomotor apraxia, ocular malformations including coloboma, lens abnormalities and microphthalmia, and hypogonadotropic hypogonadism. Some patients may have finger clinodactyly and hypoplastic distal phalanges with nail hypoplasia, especially of the fifth digits. Individuals with variants in SOX11 have a "unique peripheral blood DNA methylation signature as a diagnostic biomarker and phenotypic clustering analysis that distinguishes SOX11 syndrome from BAFopathies.