Absent thumb - short stature - immunodeficiency
|
(Orphanet:2951)
|
Alpha-thalassemia - myelodysplastic syndrome
|
(Orphanet:231401)
|
Ataxia - pancytopenia
|
(Orphanet:2585)
|
Autosomal agammaglobulinemia
|
(Orphanet:33110)
|
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
|
(Orphanet:331176)
|
Barth syndrome
|
(Orphanet:111)
|
CINCA syndrome
|
(Orphanet:1451)
|
Cartilage-hair hypoplasia
|
(Orphanet:175)
|
Chronic granulomatous disease
|
(Orphanet:379)
|
Chédiak-Higashi syndrome
|
(Orphanet:167)
|
Cohen syndrome
|
(Orphanet:193)
|
Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
|
(Orphanet:231154)
|
Cyclic neutropenia
|
(Orphanet:2686)
|
Deafness - lymphedema - leukemia
|
(Orphanet:3226)
|
Dubowitz syndrome
|
(Orphanet:235)
|
Dyskeratosis congenita
|
(Orphanet:1775)
|
Familial isolated dilated cardiomyopathy
|
(Orphanet:154)
|
Felty syndrome
|
(Orphanet:47612)
|
Griscelli disease
|
(Orphanet:381)
|
Griscelli disease type 2
|
(Orphanet:79477)
|
Hermansky-Pudlak syndrome
|
(Orphanet:79430)
|
ICF syndrome
|
(Orphanet:2268)
|
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
|
(Orphanet:70592)
|
Isolated agammaglobulinemia
|
(Orphanet:229717)
|
Lichstenstein syndrome
|
(Orphanet:2390)
|
Lyell syndrome
|
(Orphanet:537)
|
Microcephalic primordial dwarfism, Toriello type
|
(Orphanet:2643)
|
Neutropenia - monocytopenia - deafness
|
(Orphanet:2690)
|
Neutropenia, severe congenital, 1, autosomal dominant
|
(OMIM:202700)
|
Neutrophil immunodeficiency syndrome
|
(Orphanet:183707)
|
OSLAM syndrome
|
(Orphanet:2760)
|
Oculocerebral hypopigmentation syndrome, Preus type
|
(Orphanet:2720)
|
Primary immunodeficiency syndrome due to p14 deficiency
|
(Orphanet:90023)
|
Reticular dysgenesis
|
(Orphanet:33355)
|
Retinopathy - anemia- central nervous system anomalies
|
(Orphanet:3088)
|
Rothmund-Thomson syndrome
|
(Orphanet:2909)
|
Rothmund-Thomson syndrome type 2
|
(Orphanet:221016)
|
Shwachman-Diamond syndrome
|
(Orphanet:811)
|
Stevens-Johnson syndrome
|
(Orphanet:36426)
|
Transcobalamin deficiency
|
(Orphanet:859)
|
Vitamin B12-unresponsive methylmalonic acidemia type mut-
|
(Orphanet:79312)
|
Vitamin B12-unresponsive methylmalonic acidemia type mut0
|
(Orphanet:289916)
|
Waldenström macroglobulinemia
|
(Orphanet:33226)
|
Wiskott-Aldrich syndrome
|
(Orphanet:906)
|
Wolcott-Rallison syndrome
|
(Orphanet:1667)
|
X-linked agammaglobulinemia
|
(Orphanet:47)
|
X-linked severe congenital neutropenia
|
(Orphanet:86788)
|