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GTR Home > Conditions/Phenotypes > Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies

Summary

SIMHA syndrome is characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies. Inter- and intrafamilial phenotypic variability has been observed (Kambouris et al., 2014; Zahra et al., 2020). [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: SIMHA, ZNF407
    Summary: zinc finger protein 407

Clinical features

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