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2023-09-27
(ORPHA:3322 present): Hoyeraal-Hreidarsson syndrome (HP:0001276 present): Hypertonia (HP:0001903 present): Anemia (HP:0002344 absent): Progressive neurologic deterioration (HP:0008497 present): Congenital craniofacial dysostosis (HP:0011743 present): Adrenal gland agenesis (HP:0100651 absent): Type I diabetes mellitus
Hoyeraal-Hreidarsson syndrome
Orphanet
ORPHA:3322
Hypertonia
HPO
HP:0001276
Anemia
HPO
HP:0001903
Progressive neurologic deterioration
HPO
HP:0002344
Congenital craniofacial dysostosis
HPO
HP:0008497
Adrenal gland agenesis
HPO
HP:0011743
Type I diabetes mellitus
HPO
HP:0100651
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