SOX11-Related Syndrome

Associated Genes

SRY-Box 11
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Gene Map Locus

2p25.2

Description

SOX11-related syndrome is a rare, autosomal recessive, neurodevelopmental disorder classified as an SSRIDD. SWI/SNF-related intellectual disability disorders, or SSRIDDs, are a collective group of disorders associated with the mammalian SWI/SNF complex genes. These syndromes report a spectrum of features such as developmental delay (DD), mild intellectual disability (ID), dysmorphic facial features, feeding difficulties, hypotonia, microcephaly, fifth digit nail/finger hypoplasia, prominent interphalangeal joints, brachydactyly, sparse hair, short stature, behavioural problems and seizures. 

Epidemiology in the Arab World

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Other Reports

Lebanon

Wakim et al. 2020, reported a Lebanese male child with intellectual deficiency, developmental delay, microcephaly, thick scalp hairs, long eyelashes and eyebrows, and low-set ears with no finger abnormalities. Exome sequencing of the patient revealed a c.146T>A [p.Ile49Asn] mutation in SOX11. 

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