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Summary
MENTAL RETARDATION, X-LINKED 91 MRX91
ZDHHC15 PALMITOYLTRANSFERASE DEFICIENCY
300577
OMIM = Online Medalian Inheritance of Men
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Xq13.3
rare
X-linked dominant

symptoms
clinodactyly
dysmorphism
epilepsy
hypotonia
onset, adolescent
onset, childhood
psychomotor retardation
speech development, delayed, abnormal
laboratory finding
no specific laboratory findings (P, S, U ,CSF) urine
Literature
Chan WK,et al.Paradoxical hypertension and salt wasting in Type II Bartter syndromeClin Kidney J53217-2202012