Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Duchenne muscular dystrophy +
ectodermal dysplasia 1 +
factor VIII deficiency +
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
Hamanishi Ueba Tsuji Syndrome
hemophilia B
hereditary sensory and autonomic neuropathy type 1 +
hereditary sensory and autonomic neuropathy type 2 +
hereditary sensory and autonomic neuropathy type 5
hereditary sensory and autonomic neuropathy type 6
hereditary sensory and autonomic neuropathy type 7
hereditary sensory and autonomic neuropathy type 8
Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia
hereditary sensory neuropathy type 4
hereditary sensory neuropathy X-linked
A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. (DO)
hereditary spastic paraplegia 16
hereditary spastic paraplegia 2
hereditary spastic paraplegia 34
hereditary spastic paraplegia 49
HRPT-related hyperuricemia
hypogonadotropic hypogonadism 1 with or without anosmia