SCARF SYNDROME(OMIM機械翻訳)
SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION(OMIM機械翻訳)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1(OMIM機械翻訳)
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1(OMIM機械翻訳)
SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED(OMIM機械翻訳)
ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET(OMIM機械翻訳)
VACTERL ASSOCIATION WITH HYDROCEPHALUS, X-LINKED(OMIM機械翻訳)
VAN DEN BOSCH SYNDROME(OMIM機械翻訳)
WIEACKER SYNDROME(OMIM機械翻訳)
ZONULAR CATARACT AND NYSTAGMUS(OMIM機械翻訳)
DELETED IN AZOOSPERMIA; DAZ(OMIM機械翻訳)
HAIRY EARS, Y-LINKED(OMIM機械翻訳)
DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED(OMIM機械翻訳)
KEARNS-SAYRE SYNDROME; KSS(OMIM機械翻訳)
LEBER OPTIC ATROPHY(OMIM機械翻訳)
MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF(OMIM機械翻訳)
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA(OMIM機械翻訳)
ONCOCYTOMA(OMIM機械翻訳)
PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE(OMIM機械翻訳)
FAMILIAL FATAL INSOMNIA; FFI(OMIM機械翻訳)
CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME(OMIM機械翻訳)
PUERTO RICAN INFANT HYPOTONIA SYNDROME(OMIM機械翻訳)
WARBURG MICRO SYNDROME(OMIM機械翻訳)
EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION; EPMR(OMIM機械翻訳)
HIRSCHSPRUNG DISEASE 3(OMIM機械翻訳)
PTERYGIUM COLLI AND MENTAL RETARDATION WITH FACIAL AND DIGITAL ANOMALIES(OMIM機械翻訳)
GONADAL AGENESIS(OMIM機械翻訳)
PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES(OMIM機械翻訳)
WAARDENBURG SYNDROME, TYPE IIB; WS2B(OMIM機械翻訳)
PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB(OMIM機械翻訳)
OCULOMAXILLOFACIAL DYSPLASIA WITH OBLIQUE FACIAL CLEFTS(OMIM機械翻訳)
FRONTOTEMPORAL DEMENTIA(OMIM機械翻訳)
SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME(OMIM機械翻訳)
TIBIAL MUSCULAR DYSTROPHY, TARDIVE(OMIM機械翻訳)
MESOMELIA-SYNOSTOSES SYNDROME(OMIM機械翻訳)
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, DYSPLASTIC NAILS(OMIM機械翻訳)
HYPERTRICHOSIS, ANTERIOR CERVICAL(OMIM機械翻訳)
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 4; MHS4(OMIM機械翻訳)
ABCD SYNDROME(OMIM機械翻訳)
INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY(OMIM機械翻訳)
POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT; PKD3(OMIM機械翻訳)
SATOYOSHI SYNDROME(OMIM機械翻訳)
VELOFACIOSKELETAL SYNDROME(OMIM機械翻訳)
ANOPHTHALMIA-PLUS SYNDROME(OMIM機械翻訳)
ASTHMA(OMIM機械翻訳)
HYPERFERRITINEMIA-CATARACT SYNDROME(OMIM機械翻訳)
AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS(OMIM機械翻訳)
MARDEN-WALKER-LIKE SYNDROME WITHOUT PSYCHOMOTOR RETARDATION(OMIM機械翻訳)
LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE(OMIM機械翻訳)
HYDROCEPHALUS, SKELETAL ANOMALIES, AND MENTAL DISTURBANCE(OMIM機械翻訳)
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE; SRN1(OMIM機械翻訳)
NIEMANN-PICK DISEASE, TYPE C2 GENE; NPC2(OMIM機械翻訳)
MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM(OMIM機械翻訳)
TIBIA, ABSENCE OR HYPOPLASIA OF, WITH POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES(OMIM機械翻訳)
USHER SYNDROME, TYPE ID; USH1D(OMIM機械翻訳)
HARROD SYNDROME(OMIM機械翻訳)
SUPRANUCLEAR PALSY, PROGRESSIVE; PSP(OMIM機械翻訳)
FALLOT COMPLEX WITH SEVERE MENTAL AND GROWTH RETARDATION(OMIM機械翻訳)
BRUGADA SYNDROME(OMIM機械翻訳)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE(OMIM機械翻訳)
IRON OVERLOAD IN AFRICA(OMIM機械翻訳)
PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA(OMIM機械翻訳)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F(OMIM機械翻訳)
POLYCYSTIC KIDNEY DISEASE 1; PKD1(OMIM機械翻訳)
NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS(OMIM機械翻訳)
RENAL DYSPLASIA, DIFFUSE CYSTIC(OMIM機械翻訳)
BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION(OMIM機械翻訳)
LETHAL SHORT-LIMB SKELETAL DYSPLASIA, AL GAZALI TYPE(OMIM機械翻訳)
BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS(OMIM機械翻訳)
SPARSE HAIR AND MENTAL RETARDATION(OMIM機械翻訳)
HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS(OMIM機械翻訳)
SQUAMOUS CELL CARCINOMA, HEAD AND NECK(OMIM機械翻訳)
ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS(OMIM機械翻訳)
SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS(OMIM機械翻訳)
NEVO SYNDROME(OMIM機械翻訳)
OCULOAURICULOFRONTONASAL SYNDROME; OAFNS(OMIM機械翻訳)
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE(OMIM機械翻訳)
MOEBIUS SYNDROME 2; MBS2(OMIM機械翻訳)
RIBBING DISEASE(OMIM機械翻訳)
NAVAJO BRAIN STEM SYNDROME(OMIM機械翻訳)
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD(OMIM機械翻訳)
WILMS TUMOR SUPPRESSOR LOCUS(OMIM機械翻訳)
NEURAL TUBE DEFECT, FOLATE-SENSITIVE(OMIM機械翻訳)
TRICHOTHIODYSTROPHY; TTD(OMIM機械翻訳)
BARTTER SYNDROME, ANTENATAL HYPERCALCIURIC FORM(OMIM機械翻訳)
YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME(OMIM機械翻訳)
CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMAL SKIN AND GUT DEVELOPMENT(OMIM機械翻訳)
QUEBEC PLATELET DISORDER; QPD(OMIM機械翻訳)
ADDUCTED THUMB-CLUBFOOT SYNDROME(OMIM機械翻訳)
PALLISTER-KILLIAN SYNDROME; PKS(OMIM機械翻訳)
CHROMOSOME 18q DELETION SYNDROME(OMIM機械翻訳)
ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE(OMIM機械翻訳)
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5; MHS5(OMIM機械翻訳)
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 6; MHS6(OMIM機械翻訳)
INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS, FAMILIAL; ICCA(OMIM機械翻訳)
HEMANGIOMA, CAPILLARY INFANTILE(OMIM機械翻訳)
USHER SYNDROME, TYPE IE; USH1E(OMIM機械翻訳)
DYSTONIA 7, TORSION; DYT7(OMIM機械翻訳)
PARKINSON DISEASE 3(OMIM機械翻訳)
PELVIC HYPOPLASIA WITH LOWER-LIMB ARTHROGRYPOSIS(OMIM機械翻訳)
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