Uncertain Biochemical Etiology Disorders
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Records Return:
(42)
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Description | Omim Number | Sample Count |
5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | 607093 | 1 |
ANGELMAN SYNDROME; AS | 105830 | 1 |
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 | 208000 | 3 |
AUTISM | 209850 | 1 |
BREAST CANCER 1 GENE; BRCA1 | 113705 | 2 |
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY; CHEGDD | 213000 | 1 |
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 | 211600 | 5 |
COAGULATION FACTOR II; F2 | 176930 | 1 |
CRI-DU-CHAT SYNDROME | 123450 | 14 |
CRIGLER-NAJJAR SYNDROME, TYPE I | 218800 | 2 |
CYSTIC FIBROSIS; CF | 219700 | 7 |
DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28 | 609823 | 3 |
DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39 | 608265 | 6 |
DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49 | 610153 | 10 |
DELETED IN AZOOSPERMIA 1; DAZ1 | 400003 | 1 |
DIGEORGE SYNDROME; DGS | 188400 | 1 |
FACTOR V DEFICIENCY | 227400 | 2 |
FACTOR X DEFICIENCY | 227600 | 1 |
HERMANSKY-PUDLAK SYNDROME 1; HPS1 | 203300 | 2 |
HERMANSKY-PUDLAK SYNDROME 2; HPS2 | 608233 | 1 |
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