Absent thumb - short stature - immunodeficiency
|
(Orphanet:2951)
|
Alopecia antibody deficiency
|
(Orphanet:1006)
|
Aplasia cutis congenita - intestinal lymphangiectasia
|
(Orphanet:1116)
|
Ataxia - pancytopenia
|
(Orphanet:2585)
|
Ataxia-telangiectasia
|
(Orphanet:100)
|
Autosomal agammaglobulinemia
|
(Orphanet:33110)
|
Cartilage-hair hypoplasia
|
(Orphanet:175)
|
Cernunnos-XLF deficiency
|
(Orphanet:169079)
|
Combined immunodeficiency due to DOCK8 deficiency
|
(Orphanet:217390)
|
Common variable immunodeficiency
|
(Orphanet:1572)
|
Cystic fibrosis
|
(Orphanet:586)
|
Distal monosomy 19p13.3
|
(Orphanet:96129)
|
Epilepsy telangiectasia
|
(Orphanet:1951)
|
Good syndrome
|
(Orphanet:169105)
|
Griscelli disease
|
(Orphanet:381)
|
Hennekam syndrome
|
(Orphanet:2136)
|
Hereditary folate malabsorption
|
(Orphanet:90045)
|
Hydrocephalus - blue sclerae - nephropathy
|
(Orphanet:2186)
|
ICF syndrome
|
(Orphanet:2268)
|
Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration
|
(Orphanet:85317)
|
Intestinal lymphangiectasia
|
(Orphanet:36204)
|
Isolated agammaglobulinemia
|
(Orphanet:229717)
|
Lichstenstein syndrome
|
(Orphanet:2390)
|
Low birth weight - dwarfism - dysgammaglobulinemia
|
(Orphanet:2621)
|
Microcephalic primordial dwarfism, Toriello type
|
(Orphanet:2643)
|
Multifocal muscular fibrosis - obstructed vessels
|
(Orphanet:2033)
|
Natal teeth - intestinal pseudoobstruction - patent ductus
|
(Orphanet:1654)
|
Netherton syndrome
|
(Orphanet:634)
|
PA POLYMORPHISM OF ALPHA-2-GLOBULIN
|
(OMIM:260100)
|
POEMS syndrome
|
(Orphanet:2905)
|
PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1
|
(OMIM:176390)
|
Primary immunodeficiency syndrome due to p14 deficiency
|
(Orphanet:90023)
|
Primary intestinal lymphangiectasia
|
(Orphanet:90362)
|
RADIN BLOOD GROUP ANTIGEN
|
(OMIM:111620)
|
Recurrent infections associated with rare immunoglobulin isotypes deficiency
|
(Orphanet:183675)
|
Reticular dysgenesis
|
(Orphanet:33355)
|
Rosaï-Dorfman disease
|
(Orphanet:158014)
|
SPONASTRIME dysplasia
|
(Orphanet:93357)
|
Say-Barber-Miller syndrome
|
(Orphanet:3132)
|
Schimke immuno-osseous dysplasia
|
(Orphanet:1830)
|
Short-limb skeletal dysplasia with severe combined immunodeficiency
|
(Orphanet:935)
|
Spastic ataxia - corneal dystrophy
|
(Orphanet:2572)
|
Thymoma
|
(Orphanet:99867)
|
Transcobalamin deficiency
|
(Orphanet:859)
|
Vici syndrome
|
(Orphanet:1493)
|
X-linked agammaglobulinemia
|
(Orphanet:47)
|
X-linked immunoneurologic disorder
|
(Orphanet:2571)
|
X-linked lymphoproliferative disease
|
(Orphanet:2442)
|
X-linked severe congenital neutropenia
|
(Orphanet:86788)
|