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GTR Home > Conditions/Phenotypes > Microcephalic primordial dwarfism due to ZNF335 deficiency

Microcephalic primordial dwarfism due to ZNF335 deficiency

Synonyms
Primary autosomal recessive microcephaly 10
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation (summary by Yang et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). [from OMIM]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCPH10, NIF-1, NIF1, NIF2, ZNF335
    Summary: zinc finger protein 335

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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