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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type

Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type

Synonyms
MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2

Summary

Hackmann-Di Donato-type X-linked syndromic intellectual developmental disorder (MRXSHD) is an X-linked recessive phenotype characterized by global developmental delay with hypotonia, delayed speech, and mildly delayed walking associated with somatic marfanoid features, including tall stature, long fingers, and mildly dysmorphic facies. Some patients may have cardiac defects, such as mitral valve regurgitation, as well as other anomalies related to connective tissue defects, such as scoliosis (summary by Fiordaliso et al., 2019). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRXSHD, NKAP
    Summary: NFKB activating protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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