This sister also had severe cognitive impairment, alopecia, and masculine body habitus. The youngest sister also suffers from alopecia, but otherwise appears normal. The other siblings are healthy. There is no other family history of any neurological illness. He is in the 8th grade of school, and is reportedly doing well.
Standard immunizations are up to date.
Normocephalic, no evidence of trauma. Nasal passages and oropharynx clear. Supple, no lymphadenopathy, thyromegaly or masses. No jugular venous distension. Clear to auscultation and percussion bilaterally.