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Neurodegeneration, childhood-onset, with progressive microcephaly

Summary

Childhood-onset neurodegeneration with progressive microcephaly (CONPM) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from infancy. The phenotype is highly variable: the most severely affected individuals have severe and progressive microcephaly, early-onset seizures, lack of visual tracking, and almost no developmental milestones, resulting in early death. Less severely affected individuals have a small head circumference and severely impaired intellectual development with poor speech and motor delay. Additional features may include poor overall growth, axial hypotonia, limb hypertonia with spasticity, undescended testes, and cerebral atrophy with neuronal loss (Lam et al., 2019 and Vanoevelen et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CDC8, CONPM, PP3731, TMPK, TYMK, DTYMK
    Summary: deoxythymidylate kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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