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Items: 2

1.

Enlarged vestibular aqueduct syndrome

Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of hearing loss with or without other findings. Pendred syndrome is characterized by: severe-to-profound bilateral sensorineural hearing impairment that is usually congenital (or prelingual) and non-progressive; vestibular dysfunction; temporal bone abnormalities; and development of euthyroid goiter in late childhood to early adulthood. Variability of findings is considerable, even within the same family. DFNB4 is characterized by nonsyndromic sensorineural hearing impairment, vestibular dysfunction, and enlarged vestibular aqueduct (EVA). Thyroid defects are not seen in DFNB4. [from GeneReviews]

MedGen UID:
355050
Concept ID:
C1863752
Finding; Finding
2.

Mental deterioration

MedGen UID:
349663
Concept ID:
C1863063
Finding

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