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2023-09-27
HypertoniaHPO HP:0001276
AnemiaHPO HP:0001903
Progressive neurologic deteriorationHPO HP:0002344
Congenital craniofacial dysostosisHPO HP:0008497
Adrenal gland agenesisHPO HP:0011743
Type I diabetes mellitusHPO HP:0100651
Hoyeraal-Hreidarsson syndromeOrphanet ORPHA:3322
 
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