Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly
The girl was born at 41 weeks, and she presented a short stature 43.
Some patients have the additional features of central nervous system dysfunction, renal abnormalities, variable cardiac anomalies including hypertrophic obstructive cardiomyopathy, and variable distal limb defects including syndactyly.
Wellington: Ministry of Health, 2001.
Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy summary by Smith et al.
Click on the link to view a sample search on this topic.
The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i 12 p10 Peltomaki et al.
He was otherwise normal and had no problems.
It causes intellectual disabilities, a characteristic facial appearance, and an increased chance for heart defects and.