OMIM

170100

Populations

OOA (Old Order Amish)

Inheritance and Genes

Inheritance: autosomal recessive

Genes: PEPD

Alternate names

peptidase D

PEPD

prolidase

imidodipeptidase

Clinical Features

failure to thrive

developmental delay

skin rash

skin ulcers

splenomegaly

hepatomegaly

proptosis

hypertelorism

infections

neonatal jaundice

diarrhea

Resources

no available resources at this time

 

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Inheritance

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Autosomal Recessive (new) 180