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Items: 3

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.

Hemorrhage

Bleeding is the loss of blood. It can happen inside or outside the body. Bleeding can be a reaction to a cut or other wound. It can also result from an injury to internal organs. There are many situations in which you might bleed. A bruise is bleeding under the skin. Some strokes are caused by bleeding in the brain. Other bleeding, such as gastrointestinal bleeding, coughing up blood, or vaginal bleeding, can be a symptom of a disease. Normally, when you bleed, your blood forms clots to stop the bleeding. Severe bleeding may require first aid or a trip to the emergency room. If you have a bleeding disorder, your blood does not form clots normally.  [from MedlinePlus]

MedGen UID:
5503
Concept ID:
C0019080
Finding; Pathologic Function
3.

Enlarged vestibular aqueduct

Increased size of the vestibular aqueduct. [from HPO]

MedGen UID:
506570
Concept ID:
CN167115
Finding
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