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1.

Ferguson-Bonni neurodevelopmental syndrome

Ferguson-Bonni neurodevelopmental syndrome (FERBON) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay. Additional features may include dysmorphic facies, mild skeletal abnormalities, and hearing loss (summary by Ferguson et al., 2022). [from OMIM]

MedGen UID:
1794275
Concept ID:
C5562065
Disease or Syndrome
2.

Coronary-pulmonary artery fistula

A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery. [from HPO]

MedGen UID:
1383236
Concept ID:
C4476821
Congenital Abnormality

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