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Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Angel Shaped Phalangoepiphyseal Dysplasia
autosomal dominant limb-girdle muscular dystrophy +
autosomal recessive limb-girdle muscular dystrophy +
Baby Rattle Pelvis Dysplasia
Bazopoulou Kyrkanidou Syndrome
Bellini Chiumello Rimoldi Syndrome
Bent Bone Dysplasia Syndrome
Bone Dysplasia, Lethal, Holmgren Type
Brachioskeletogenital Syndrome
Brachymesomelia Renal Syndrome
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Capillary Hemangioma, Infantile
Cervical Vertebral Dysplasia
congenital muscular dystrophy with cataracts and intellectual disability
Congenital Muscular Dystrophy, Davignon-Chauveau Type
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
craniolenticulosutural dysplasia
cutaneous fibrous histiocytoma
Deafness Conductive Ptosis Skeletal Anomalies
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma
Doughnut Lesions of Skull, Familial
Dysplasia Epiphysealis Hemimelica +
dysplastic nevus syndrome +
epidermolysis bullosa simplex with muscular dystrophy
familial adenomatous polyposis +
Familial Cancer with In Vitro Radioresistance
familial chronic myelocytic leukemia-like syndrome
Familial Cutaneous Collagenoma
Familial Multiple Trichodiscomas
Fryns Hofkens Fabry Syndrome
Gurrieri Sammito Bellussi Syndrome
Hall Riggs Mental Retardation Syndrome
hereditary breast ovarian cancer syndrome
Hereditary Leiomyomatosis and Renal Cell Cancer
hereditary multiple exostoses +
Hereditary Paraganglioma-Pheochromocytoma Syndromes
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
juvenile polyposis syndrome +
Kantaputra Gorlin Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Warren Fisher Syndrome
Lenz-Majewski hyperostotic dwarfism
Lissencephaly Type III and Bone Dysplasia
Macroepiphyseal Dysplasia, McAlister Coe Type
Melanoma-Pancreatic Cancer Syndrome
Membranous Cranial Ossification, Delayed
Mesomelic Dysplasia, Camera Type
Mesomelic Limb Shortening and Bowing
Miura type epiphyseal chondrodysplasia
Multiple Endocrine Neoplasia +
Multiple Hamartoma Syndrome +
Muscular Dystrophy, Hemizygous Lethal Type
Muscular Dystrophy, Limb-Girdle, Type 2Z
Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
nevoid basal cell carcinoma syndrome +
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
Patterson Pseudoleprechaunism Syndrome
Radius Absent Anogenital Anomalies
Rhizomelic Dysplasia Patterson Lowry Type
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
Roifman-Chitayat Syndrome
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES
Shwachman-Diamond Syndrome 2
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification
split hand-foot malformation +
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spranger Schinzel Myers Syndrome
Stoll Levy Francfort Syndrome
Trichoodontoonychial Dysplasia
Ulnar Hypoplasia with Mental Retardation
Vertebral Body Fusion Overgrowth
Wiedemann Oldigs Oppermann Syndrome
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