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GTR Home > Conditions/Phenotypes > Chondrodysplasia-pseudohermaphroditism syndrome

Chondrodysplasia-pseudohermaphroditism syndrome

Synonyms
Chondrodysplasia pseudohermaphrodism syndrome; Nivelon Nivelon Mabille syndrome; Pseudohermaphrodism and chondrodysplasia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Nivelon-Nivelon-Mabille syndrome (NNMS) is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia (Abdel-Salam et al., 2019). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MART2, NNMS, SKI1, Skn, HHAT
    Summary: hedgehog acyltransferase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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