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Items: 3

1.

Mild non-PKU hyperphenylalanemia

MedGen UID:
394818
Concept ID:
C2678416
Disease or Syndrome
2.

Reduced phenylalanine hydroxylase activity

A reduction in phenylalanine 4-monooxygenase activity. [from HPO]

MedGen UID:
199655
Concept ID:
C0751434
Disease or Syndrome
3.

Maternal phenylketonuria

A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95) [from MeSH]

MedGen UID:
88435
Concept ID:
C0085547
Disease or Syndrome
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