The case of a newborn born to consanguineous parents, with a family history of a sibling death of unspecified cause, presenting with hypopigmentation, generalized hypotonia, agenesis of the corpus callosum, severe recurrent infections, developmental delay, and cleft palate is reported.
K. Danaoui, Meryem Majdoul, Fatima-Ezzahra Tahiri et al.· Annals of African medicine· 0 citations
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