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Items: 2

1.

Hypotonia-failure to thrive-microcephaly syndrome

An extremely rare fatal neurometabolic developmental disorder with clinical characteristics of muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. [from SNOMEDCT_US]

MedGen UID:
481292
Concept ID:
C3279662
Disease or Syndrome
2.

Reduced circulating leukotriene C4 concentration

An abnormally decreased concentration of leukotriene C4 in the blood circulation. [from HPO]

MedGen UID:
1684684
Concept ID:
C5139109
Finding

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