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Epiphyseal dysplasia of femoral head, myopia, and deafness

MedGen UID:
346470
•Concept ID:
C1856918
•
Disease or Syndrome
Synonym: Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
 
Monarch Initiative: MONDO:0009190
OMIM®: 226950

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
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Epiphyseal dysplasia
MedGen UID:
95932
•Concept ID:
C0392476
•
Congenital Abnormality
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Abnormality of the epiphysis of the femoral head
MedGen UID:
866896
•Concept ID:
C4021252
•
Anatomical Abnormality
Any abnormality of the proximal epiphysis of the femur.
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High myopia
MedGen UID:
78759
•Concept ID:
C0271183
•
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
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Etiology

Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.
MacDermot KD, Roth SC, Hall C, Winter RM
J Med Genet 1987 Oct;24(10):602-8. doi: 10.1136/jmg.24.10.602. PMID: 3681905Free PMC Article

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