AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE
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(OMIM:613501)
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AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE
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(OMIM:612692)
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Alström syndrome
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(Orphanet:64)
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Ataxia-telangiectasia
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(Orphanet:100)
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CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA
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(OMIM:242680)
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CILIARY DYSKINESIA, PRIMARY, 13
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(OMIM:613193)
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CILIARY DYSKINESIA, PRIMARY, 5
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(OMIM:608647)
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COMBINED IMMUNODEFICIENCY, X-LINKED
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(OMIM:312863)
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COMPLEMENT COMPONENT C1r/C1s DEFICIENCY
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(OMIM:216950)
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IMMUNODEFICIENCY, COMMON VARIABLE, 1
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(OMIM:607594)
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IMMUNODEFICIENCY, COMMON VARIABLE, 2
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(OMIM:240500)
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Immunodeficiency by defective expression of HLA class 1
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(Orphanet:34592)
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Keutel syndrome
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(Orphanet:85202)
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Mucolipidosis type 2
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(Orphanet:576)
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Nephronophthisis 2
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(OMIM:602088)
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Nephronophthisis 3
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(OMIM:604387)
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Nijmegen breakage syndrome
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(Orphanet:647)
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Primary ciliary dyskinesia - retinitis pigmentosa
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(Orphanet:247522)
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Purine nucleoside phosphorylase deficiency
|
(Orphanet:760)
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Severe combined immunodeficiency due to adenosine deaminase deficiency
|
(Orphanet:277)
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Young syndrome
|
(Orphanet:3471)
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