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has material basis in
Kleefstra syndrome 1
chromosomal deletion syndrome
NFIA-related disorder
SATB2-associated syndrome
chromosomal duplication syndrome
posterior amorphous corneal dystrophy
syndromic X-linked intellectual disability Lubs type
hypotonia-cystinuria syndrome
Y-linked spermatogenic failure 1
hereditary nonpolyposis colorectal cancer type 8
split hand-foot malformation 3
alpha thalassemia-intellectual disability syndrome type 1
Axenfeld-Rieger syndrome type 2
autosomal dominant nonsyndromic deafness 51
hereditary mixed polyposis syndrome 1
Potocki-Shaffer syndrome
46,XY sex reversal 4
46,XY sex reversal 10
syndactyly type 1
AMME complex
DiGeorge syndrome
Cri-Du-Chat syndrome
Down syndrome
Williams-Beuren syndrome
Rubinstein-Taybi syndrome
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