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Items: 2

1.

Lethal polymalformative syndrome, Boissel type

Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness (summary by Daoud et al., 2016). [from OMIM]

MedGen UID:
414158
Concept ID:
C2752001
Congenital Abnormality
2.

Body mass index quantitative trait locus 14

MedGen UID:
393916
Concept ID:
C2675914
Finding

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