OMIM |
OMIM:617330 |
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS |
— |
— |
— |
OMIM |
OMIM:617333 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP |
— |
— |
— |
OMIM |
OMIM:617336 |
NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE; NEM11 |
— |
— |
— |
OMIM |
OMIM:617337 |
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12 |
— |
— |
— |
OMIM |
OMIM:617339 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51 |
— |
— |
— |
OMIM |
OMIM:617341 |
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2 |
— |
— |
— |
OMIM |
OMIM:617343 |
HYPERPARATHYROIDISM 4; HRPT4 |
— |
— |
— |
OMIM |
OMIM:617347 |
HYPERLIPOPROTEINEMIA, TYPE III |
— |
— |
— |
OMIM |
OMIM:617349 |
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11 |
— |
— |
— |
OMIM |
OMIM:617350 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52 |
— |
— |
— |
OMIM |
OMIM:617352 |
MULCHANDANI-BHOJ-CONLIN SYNDROME; MBCS |
— |
— |
— |
OMIM |
OMIM:617360 |
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD |
— |
— |
— |
OMIM |
OMIM:617364 |
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED |
— |
— |
— |
OMIM |
OMIM:617370 |
PEROXISOME BIOGENESIS DISORDER 10B; PBD10B |
— |
— |
— |
OMIM |
OMIM:617383 |
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2 |
— |
— |
— |
OMIM |
OMIM:617384 |
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4 |
— |
— |
— |
OMIM |
OMIM:617386 |
NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 5, PSEUDOGENE; NR1H5P |
— |
— |
— |
OMIM |
OMIM:617388 |
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK |
— |
— |
— |
OMIM |
OMIM:617389 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53 |
— |
— |
— |
OMIM |
OMIM:617391 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54 |
— |
— |
— |
OMIM |
OMIM:617392 |
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13 |
— |
— |
— |
OMIM |
OMIM:617393 |
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM |
— |
— |
— |
OMIM |
OMIM:617394 |
SCLEROSING CHOLANGITIS, NEONATAL; NSC |
— |
— |
— |
OMIM |
OMIM:617395 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq; CDG2Q |
— |
— |
— |
OMIM |
OMIM:617396 |
ANAUXETIC DYSPLASIA 2; ANXD2 |
— |
— |
— |