| Phenotype | Developmental delay, seizures, hydrocephalus requiring VP shunt, failure to thrive, PDA and PFO which closed without surgery, aortic root at the upper level of normal, malrotation of the intestines, cortical visual impairment, hypogammaglobulinemia, neurogenic bladder requiring catherization, hypercalciurea, vitamin D deficiency, signs of pre-puberty, ostopenia, and sinusitus. |