CAHMR SYNDROME(OMIM機械翻訳)
CAMPOMELIA, CUMMING TYPE(OMIM機械翻訳)
CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE I; GCS1(OMIM機械翻訳)
CAMPTODACTYLY SYNDROME, GUADALAJARA TYPE II(OMIM機械翻訳)
CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA(OMIM機械翻訳)
CAMPTOMELIC SYNDROME, LONG-LIMB TYPE(OMIM機械翻訳)
CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE(OMIM機械翻訳)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia(OMIM機械翻訳)
CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS(OMIM機械翻訳)
CARDIOGENITAL SYNDROME(OMIM機械翻訳)
CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME; CASS(OMIM機械翻訳)
CATARACT AND CONGENITAL ICHTHYOSIS(OMIM機械翻訳)
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME(OMIM機械翻訳)
CELIAC DISEASE; CD(OMIM機械翻訳)
CEREBELLAR ATAXIA, EARLY-ONSET, WITH RETAINED TENDON REFLEXES; EOCA(OMIM機械翻訳)
JOUBERT SYNDROME 1; JBTS1(OMIM機械翻訳)
FAHR DISEASE(OMIM機械翻訳)
ZELLWEGER SYNDROME; ZS(OMIM機械翻訳)
CEREBROOCULOFACIOSKELETAL SYNDROME(OMIM機械翻訳)
CERVICAL VERTEBRAL FUSION, AUTOSOMAL RECESSIVE(OMIM機械翻訳)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A(OMIM機械翻訳)
GRISCELLI SYNDROME(OMIM機械翻訳)
CHEDIAK-HIGASHI SYNDROME; CHS(OMIM機械翻訳)
CHOLESTASIS-LYMPHEDEMA SYNDROME(OMIM機械翻訳)
CHOLESTEROL PNEUMONIA(OMIM機械翻訳)
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1(OMIM機械翻訳)
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED(OMIM機械翻訳)
CHONDROSARCOMA(OMIM機械翻訳)
CLEFT LARYNX, POSTERIOR(OMIM機械翻訳)
CLEFT-LIMB-HEART MALFORMATION SYNDROME(OMIM機械翻訳)
CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY(OMIM機械翻訳)
CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA(OMIM機械翻訳)
COHEN SYNDROME; COH1(OMIM機械翻訳)
CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA(OMIM機械翻訳)
CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY(OMIM機械翻訳)
CONOTRUNCAL HEART MALFORMATIONS; CTHM(OMIM機械翻訳)
CORPUS CALLOSUM, AGENESIS OF(OMIM機械翻訳)
CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY(OMIM機械翻訳)
COSTELLO SYNDROME(OMIM機械翻訳)
CRANE-HEISE SYNDROME(OMIM機械翻訳)
CRANIOSTENOSIS, SAGITTAL, WITH CONGENITAL HEART DISEASE, MENTAL DEFICIENCY, AND MANDIBULAR ANKYLOSIS(OMIM機械翻訳)
CRANIOSYNOSTOSIS WITH RADIAL DEFECTS(OMIM機械翻訳)
CRANIOTELENCEPHALIC DYSPLASIA(OMIM機械翻訳)
THYROID DYSGENESIS(OMIM機械翻訳)
CRIGLER-NAJJAR SYNDROME(OMIM機械翻訳)
CUSHING DISEASE, ADRENAL(OMIM機械翻訳)
CUTIS LAXA(OMIM機械翻訳)
CYSTATHIONINURIA(OMIM機械翻訳)
CYSTIC FIBROSIS; CF(OMIM機械翻訳)
LEIGH SYNDROME, FRENCH-CANADIAN TYPE; LSFC(OMIM機械翻訳)
DANDY-WALKER SYNDROME; DWS(OMIM機械翻訳)
DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT(OMIM機械翻訳)
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA, AND BRACHYTELEPHALANGY(OMIM機械翻訳)
DANDY-WALKER MALFORMATION WITH POSTAXIAL POLYDACTYLY(OMIM機械翻訳)
JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1(OMIM機械翻訳)
DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM(OMIM機械翻訳)
DERMOCHONDROCORNEAL DYSTROPHY(OMIM機械翻訳)
WOLFRAM SYNDROME(OMIM機械翻訳)
DIASTROPHIC DYSPLASIA(OMIM機械翻訳)
HYPOLACTASIA, ADULT TYPE(OMIM機械翻訳)
DK--PHOCOMELIA SYNDROME(OMIM機械翻訳)
DUBOWITZ SYNDROME(OMIM機械翻訳)
DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY(OMIM機械翻訳)
DYSAUTONOMIA, FAMILIAL; DYS(OMIM機械翻訳)
DYSTONIA MUSCULORUM DEFORMANS 2; DYT2(OMIM機械翻訳)
#(OMIM機械翻訳)
EAR, PATELLA, SHORT STATURE SYNDROME(OMIM機械翻訳)
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1(OMIM機械翻訳)
EEM SYNDROME(OMIM機械翻訳)
ECTRODACTYLY(OMIM機械翻訳)
AICARDI-GOUTIERES SYNDROME 1; AGS1(OMIM機械翻訳)
ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA(OMIM機械翻訳)
EPIDERMOLYSIS BULLOSA, LATE-ONSET LOCALIZED JUNCTIONAL, WITH MENTAL RETARDATION(OMIM機械翻訳)
EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE; EBR1(OMIM機械翻訳)
EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY(OMIM機械翻訳)
EPILEPSY AND YELLOW TEETH(OMIM機械翻訳)
EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS(OMIM機械翻訳)
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS(OMIM機械翻訳)
ERMINE PHENOTYPE(OMIM機械翻訳)
ERYTHRODERMA, LETHAL CONGENITAL(OMIM機械翻訳)
ERYTHRODERMA DESQUAMATIVA OF LEINER(OMIM機械翻訳)
EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPHIC(OMIM機械翻訳)
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS(OMIM機械翻訳)
FACIOCARDIORENAL SYNDROME(OMIM機械翻訳)
FACIOOCULOACOUSTICORENAL SYNDROME(OMIM機械翻訳)
FACIOTHORACOGENITAL SYNDROME(OMIM機械翻訳)
FATTY METAMORPHOSIS OF VISCERA(OMIM機械翻訳)
FEMUR-FIBULA-ULNA SYNDROME(OMIM機械翻訳)
FEMUR, UNILATERAL BIFID, WITH MONODACTYLOUS ECTRODACTYLY(OMIM機械翻訳)
FIBROMATOSIS, JUVENILE HYALINE(OMIM機械翻訳)
FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY(OMIM機械翻訳)
FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA(OMIM機械翻訳)
FRONTOFACIONASAL DYSOSTOSIS(OMIM機械翻訳)
FRYNS SYNDROME; FRNS(OMIM機械翻訳)
FUCOSIDOSIS(OMIM機械翻訳)
GALACTOKINASE DEFICIENCY(OMIM機械翻訳)
GALACTOSE EPIMERASE DEFICIENCY(OMIM機械翻訳)
GALACTOSEMIA(OMIM機械翻訳)
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I(OMIM機械翻訳)
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III, OR ADULT TYPE(OMIM機械翻訳)
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