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Items: 3

1.

Fetal akinesia deformation sequence 1

Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). [from HPO]

MedGen UID:
220903
Concept ID:
C1276035
Disease or Syndrome
2.

Neu-Laxova syndrome 1

Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene. [from MONDO]

MedGen UID:
1633287
Concept ID:
C4551478
Disease or Syndrome
3.

Small placenta

Reduced size of the placenta. [from HPO]

MedGen UID:
488920
Concept ID:
C0566694
Finding
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