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Dysfunctional pathway
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C
central core disease
chromosomal instability
cone rod dystrophies
D
desmin cardiomyopathy
F
FTDP-17
H
hereditary hypofibrinogenemia
I
IL12B
K
Kartagener syndrome
Kostmann disease
L
LIG4 syndrome
N
neonatal diabetes mellitus
O
Opitz-Kaveggia syndrome
P
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
X
X-linked chronic idiopathic intestinal pseudo-obstruction
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