Absent thumb - short stature - immunodeficiency
|
(Orphanet:2951)
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Acro-renal-ocular syndrome
|
(Orphanet:959)
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Bartsocas-Papas syndrome
|
(Orphanet:1234)
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Blackfan-Diamond anemia
|
(Orphanet:124)
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CRANIOSYNOSTOSIS WITH ANOMALIES OF THE CRANIAL BASE AND DIGITS
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(OMIM:218530)
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DIAMOND-BLACKFAN ANEMIA 1
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(OMIM:105650)
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DIAMOND-BLACKFAN ANEMIA 11
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(OMIM:614900)
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FANCONI ANEMIA, COMPLEMENTATION GROUP A
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(OMIM:227650)
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FANCONI ANEMIA, COMPLEMENTATION GROUP B
|
(OMIM:300514)
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FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
(OMIM:227645)
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FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
(OMIM:227646)
|
FANCONI ANEMIA, COMPLEMENTATION GROUP E
|
(OMIM:600901)
|
FANCONI ANEMIA, COMPLEMENTATION GROUP L
|
(OMIM:614083)
|
FANCONI ANEMIA, COMPLEMENTATION GROUP O
|
(OMIM:613390)
|
FANCONI ANEMIA, COMPLEMENTATION GROUP P
|
(OMIM:613951)
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FANCONI ANEMIA, COMPLEMENTATION GROUP Q
|
(OMIM:615272)
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Fanconi anemia
|
(Orphanet:84)
|
Holt-Oram syndrome
|
(Orphanet:392)
|
IVIC syndrome
|
(Orphanet:2307)
|
Microgastria - limb reduction defect
|
(Orphanet:2538)
|
Nager syndrome
|
(Orphanet:245)
|
Okihiro syndrome
|
(Orphanet:93293)
|
RAPADILINO syndrome
|
(Orphanet:3021)
|
Radio-renal syndrome
|
(Orphanet:3015)
|
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
|
(OMIM:612447)
|
VACTERL ASSOCIATION WITH HYDROCEPHALUS
|
(OMIM:276950)
|
VACTERL with hydrocephalus
|
(Orphanet:3412)
|
VENTRICULOMEGALY WITH DEFECTS OF THE RADIUS AND KIDNEY
|
(OMIM:602200)
|
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME
|
(OMIM:602418)
|
WT limb-blood syndrome
|
(Orphanet:3466)
|
Yunis-Varon syndrome
|
(Orphanet:3472)
|