26bp deletion, 93insC, CADASIL, Hajdu-Cheney syndrome, Hyperextensibility, LMS, Lateral meningocele syndrome, Lehman syndrome, NOTCH2 mutations, NOTCH3, NOTCH3 mutations, aortic dilation, c, c.6247A>T, c.6461_6486del, c.6663C>G, c.6692_, c.6732C, c.6732C>A, connective tissue abnormality, dural ectasia, exon 33, facial anomalies, glutamate, hernias, high and narrow palate, high arched eyebrows, high-pitched nasal voice, hypertelorism, hypotonia, last coding exon, lateral meningocele syndrome, lateral meningoceles, low-set ears, meningocele-related, micrognathia, midfacial hypoplasia, mutant mRNA products, neurologic dysfunction, osteolysis, pK2083*, patients, proline, ptosis, scoliosis, serine, skeletal disorder, telecanthus, threonine, wormian bones