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1.

Chromosome 13q33-q34 deletion syndrome

Chromosome 13q33-q34 deletion syndrome is associated with developmental delay and/or impaired intellectual development, facial dysmorphism, and an increased risk for epilepsy, cardiac defects and additional anatomic anomalies (summary by Sagi-Dain et al., 2019). [from OMIM]

MedGen UID:
1744234
Concept ID:
C5436890
Disease or Syndrome
2.

Penoscrotal transposition

A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis. [from HPO]

MedGen UID:
357036
Concept ID:
C1868854
Congenital Abnormality

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