Table 3.

Clinical Features of DBH Deficiency

Feature# of Individuals 1
Severe orthostatic hypotension21/21 (100%)
Anemia9/15 (60%)
Ptosis of eyelids12/14 (86%)
Hyperflexible or hypermobile joints6/10 (60%)
EKG abnormalities 22/12 (17%)
Epileptiform symptoms4/12 (33%)
Nasal stuffiness10/10 (100%)
Hypoglycemia4/12 (33%)
Sluggish deep-tendon reflexes3/9 (33%)
Increased plasma creatinine6/11 (54%)
Polyuria/nocturia3/9 (33%)
High palate9/10 (90%)
Increased BUN6/9 (67%)
Muscle hypotonia3/9 (33%)
Postprandial hypotension3/7 (43%)
Sleep irregularities5/7 (71%)
Impaired ejaculation4/4 (100%)
1.

Number of individuals with the finding/total number evaluated for the finding

2.

EKG = electrocardiogram

From: Dopamine Beta-Hydroxylase Deficiency

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