Seckel syndrome 11

Summary

Seckel syndrome-11 (SCKL11) is characterized by severe primary microcephaly, short stature, developmental delay, impaired intellectual development, facial dysmorphisms, and digital abnormalities (Li et al., 2024). For a general phenotypic description and discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). [from OMIM]

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

CEP295
Also known as: KIAA1731, SCKL11, CEP295
Summary: centrosomal protein 295

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MedlinePlus

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