Table 2.

NOTCH3-Related Lateral Meningocele Syndrome: Frequency of Select Features

Feature# of Persons with Feature
Multiple lateral spinal meningoceles11/11
Characteristic facial appearance11/11
Developmental delay10/11
Musculoskeletal findings suggestive of a connective tissue disorder11/11
Cardiovascular concerns10/11
Genitourinary issues4/8 (males w/cryptorchidism)
Gastrointestinal concerns10/11
Eye abnormality7/11
Hearing loss4/11
Cleft palate4/11

From: NOTCH3-Related Lateral Meningocele Syndrome

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