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1 patient data entry collated from reference Reichenbach et al, 2006.

allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
Mitochondrial depletion syndrome and T cell immunodeficiency. severe recurrent infectious diseases, anemia, and thrombocytopenia. Clinically, he presented with severe psychomotor retardation, axial hypotonia, and a disturbed pain perception leading to debilitating biting of the thumb, lower lip, and tongue. Brain imaging showed hypoplasia of corpus callosum and an impaired myelinization of the temporo- occipital region with consecutive supratentorial hydrocephalus. MtDNA depletion. Neurologic examination revealed adynamia, hypotonia of the trunk, complete absence of deep tendon reflexes as well as primitive reflexes, and a disturbed pain perception with complete absence of pain expression. axonal and demyelinating neuropathy. septicemia with maculopapular exanthema, paronychia, and conjunctivitis.
-demyelinating neuropathy

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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