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1.

Chromosome 5q12 deletion syndrome

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. [from ORDO]

MedGen UID:
816612
Concept ID:
C3810282
Disease or Syndrome
2.

Decreased body mass index

Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages. [from HPO]

MedGen UID:
533673
Concept ID:
C0231255
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