Table 4.

Comparison of pathological findings between CONDCA patients and the pcd mutant mouse. N.E: Not examined.

Physiopathological Feature	CONDCA Patients	pcd Mice
Early-onset	YES	YES
Progressive degenerative course	YES	YES
Microcephaly	YES	YES
Motor delay	YES	YES
Hypotonia	YES	N.E
Muscle weakness	YES	YES
Muscle atrophy	YES	YES
Tongue fasciculations	Frequent	N.E
Alteration of tendon reflexes	Frequent	N.E
Ataxia	Frequent	YES
Dystonia	Frequent	N.E
Spasticity	Frequent	N.E
Respiratory distress	Frequent	N.E
Feeding difficulties	Frequent	YES
Eye movement abnormalities	Frequent	N.E
Defective hearing	Occasional	YES
Cognitive delay	YES	YES
Motor and axonal motor neuropathy	Frequent	YES
Denervation	Frequent	YES
Olfactory dysfunction	N.E	YES
Visual deficiency	N.E	YES
Defective sperm	N.E	YES