The magnitude of the most severe phenotype (−2.3 standard deviations) is based on observed relative testis weights in the most severely affected males.
The most severe phenotype appeared in the first weeks and months of life and presented with hypoketotic hypoglycemia, hypertrophic cardiomyopathy, and encephalopathy.
However, in certain families with motor aura, such as this one, it is possible that the most severe phenotype is caused by an unlikely combination of polygenic traits and non-genetic factors.
It is possible that the manifestation of the most severe phenotype is due to an unlikely combination of genetic and non-genetic factors (endogenous or environmental factors, which may be precipitating or modifying the phenotype).
Cryopyrin-associated periodic syndrome (CAPS) is a group of rare autoinflammatory diseases, and of these, chronic infantile neurologic, cutaneous, and articular/neonatal-onset multisystem inflammatory disease (CINCA/NOMID) syndrome has the most severe phenotype.
Of all strains generated, N4 displayed the most severe phenotype, causing mortality at the early pupal stage.
The 81.9 Kb deletion was found with increasing frequency from controls (4%) to oligozoospermic men (12%) to men with SCOS (35%) as the most severe phenotype.
In small eyes with corneal damage (the most severe phenotype), distinctive multilayering of the anterior lens epithelial cells into plaques was observed during histological analysis (Fig. 2E).
Of note, study subject 6, who had a complex alteration with three noncontiguous interstial deletions extending 6.8 Mb, presented with the most severe phenotype but no apparent dysmorphic features.
A wild-type phenotype was given a score of 0. Thus, if all the animals of a particular genotype displayed the most severe phenotype (+3), the index would be +3.
Our patient fits well with the most severe phenotype [ 12].
