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Items: 5

1.

#618810 - PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL

CHROMOSOME 1p36.33 DELETION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL RECESSIVE, INCLUDED

Cytogenetic locations: 31727539

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