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1.

Khan-Khan-Katsanis syndrome

Khan-Khan-Katsanis syndrome (3KS) is an autosomal recessive neurodevelopmental disorder with variable involvement of the ocular, renal, skeletal, and sometimes cardiac systems. Affected individuals present at birth with multiple congenital anomalies, defects in urogenital and limb morphogenesis, poor overall growth with microcephaly, and global developmental delay (summary by Khan et al., 2019). [from OMIM]

MedGen UID:
1682553
Concept ID:
C5193110
Disease or Syndrome
2.

Bilateral superior vena cava with no bridging vein

MedGen UID:
868829
Concept ID:
C4023239
Congenital Abnormality

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