Chromosome 5q12 deletion syndrome

MONDO:0014298

PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.

Also known as: chromosome 5q12 deletion syndrome, PDE4D haploinsufficiency syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Chromosome 5q12 deletion syndrome itself.

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↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Partial deletion of the long arm of chromosome 5 (4)

Including sub-types (0) Tagged with Chromosome 5q12 deletion syndrome (0)

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