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GTR Home > Conditions/Phenotypes > Intellectual disability, X-linked syndromic, Turner type

Intellectual disability, X-linked syndromic, Turner type

Synonyms
Brooks Wisniewski Brown syndrome; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE; MENTAL RETARDATION AND MACROCEPHALY SYNDROME; MENTAL RETARDATION, X-LINKED, SYNDROMIC, BROOKS-WISNIEWSKI-BROWN TYPE; MENTAL RETARDATION, X-LINKED, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM; Mental retardation, X-linked, syndromic, Turner type; X-linked intellectual disability, Turner type; X-linked mental retardation Brooks type

Summary

Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families show X-linked recessive inheritance, with only males being affected and carrier females having no abnormal findings. In other affected families, males are severely affected, and female mutation carriers show milder cognitive abnormalities or dysmorphic features. In addition, there are female patients with de novo mutations who show the full phenotype, despite skewed X-chromosome inactivation. Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by Moortgat et al., 2018). [from OMIM]

Available tests

24 tests are in the database for this condition.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARF-BP1, HECTH9, HSPC272, Ib772, LASU1, MRXST, MULE, URE-B1, UREB1, HUWE1
    Summary: HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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