Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 7

1.

SCHWANNOMATOSIS, SOMATIC

MedGen UID:
865520
Concept ID:
C4017083
Finding
2.

MENINGIOMA, SOMATIC

MedGen UID:
865519
Concept ID:
C4017082
Finding
3.

AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO (1 family)

MedGen UID:
864710
Concept ID:
C4016273
Finding
4.

Neurofibromatosis, central type

MedGen UID:
419931
Concept ID:
C2931896
Disease or Syndrome
5.

Schwannoma, Acoustic, Bilateral

MedGen UID:
253952
Concept ID:
C1136043
Neoplastic Process
6.

Bilateral vestibular Schwannoma

A bilateral vestibular Schwannoma (acoustic neurinoma). [from HPO]

MedGen UID:
209678
Concept ID:
C1136042
Neoplastic Process
7.

Neurofibromatosis, type 2

Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Posterior subcapsular lens opacities that rarely progress to a visually significant cataract are the most common ocular findings and may be the first sign of NF2. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy, a squint (third nerve palsy), or hand/foot drop. [from GeneReviews]

MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...