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1.

Hypoparathyroidism, deafness, renal disease syndrome

HDR syndrome (HDRS), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability (Barakat et al., 2018). [from OMIM]

MedGen UID:
374443
Concept ID:
C1840333
Disease or Syndrome
2.

Wildervanck syndrome

Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness. [from ORDO]

MedGen UID:
120518
Concept ID:
C0265239
Disease or Syndrome
3.

Pseudopapilledema

Apparent optic disc swelling in the absence of increased intracranial pressure. [from HPO]

MedGen UID:
57603
Concept ID:
C0155300
Disease or Syndrome
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