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GTR Home > Conditions/Phenotypes > Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum

Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum

Synonyms
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; ZAIN SYNDROME

Summary

Neurogenic arthrogryposis multiplex congenita-4 with agenesis of the corpus callosum (AMC4) is a severe neurologic disorder with onset in utero. Affected individuals show little or no fetal movements and are born with significant contractures affecting the upper and lower limbs, as well as dysmorphic facial features. Other abnormalities include globally impaired development, optic atrophy, agenesis of the corpus callosum, seizures, and peripheral neuropathy. Many patients die in early childhood (summary by Seidahmed et al., 2020). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMC4, AMCNACC, CVAK104, SCYL2
    Summary: SCY1 like pseudokinase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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