This disease is an X-linked recessive disorder characterized by the onset of inflammatory symptoms in the first decade of life in male patients. The disorder results from a defect in ELF4, which normally acts as a negative regulator of inflammatory disease.
Barth syndrome +
blue cone monochromacy
Borjeson-Forssman-Lehmann syndrome
Brunner syndrome
CD40 ligand deficiency +
Charcot-Marie-Tooth disease X-linked recessive 2
Charcot-Marie-Tooth disease X-linked recessive 3
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 5
CK syndrome
combined oxidative phosphorylation deficiency 6
congenital disorder of glycosylation Icc
congenital disorder of glycosylation Iy
congenital nongoitrous hypothyroidism 9
congenital stationary night blindness 1A
congenital stationary night blindness 2A
Dent disease +
developmental and epileptic encephalopathy 1
developmental and epileptic encephalopathy 8
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Duchenne muscular dystrophy +
ectodermal dysplasia 1 +
factor VIII deficiency +
familial Behcet-like autoinflammatory syndrome 1
Fanconi anemia complementation group B
FG syndrome +
frontometaphyseal dysplasia 1
Galloway-Mowat syndrome 2
glycogen storage disease IXA
glycogen storage disease IXD
glycogen storage disease VIII
hemophilia B
hereditary sensory neuropathy X-linked
hereditary spastic paraplegia 16
hereditary spastic paraplegia 2
hereditary spastic paraplegia 34
HRPT-related hyperuricemia
hypogonadotropic hypogonadism 1 with or without anosmia