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Boli A-Z 47, Xxy Aicardi Syndrome Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alport Syndrome, X-Linked Al-Raqad Syndrome Androgen Insensitivity Syndrome, Mild Aniridia 1 Anorexia Nervosa 1 Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect Atrioventricular Block Autism Axonal Neuropathy Ayme-Gripp Syndrome Band Heterotopia Behr Syndrome Blood Group--Ahonen Blood Group, I System Buruli Ulcer Cardiomyopathy, Dilated, 1b Cataract Cephalic Disorders Cerebellar Hypoplasia Cerebritis Chorioretinitis Chromosomal Duplication Syndrome Chromosome 17p13.3, Centromeric, Duplication Syndrome Cleft Lip Colpocephaly Congenital Hypothyroidism Congenital Muscular Dystrophy Without Intellectual Disability Congenital Nervous System Abnormality Constipation Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia Cortical Dysplasia, Complex, with Other Brain Malformations 7 Crouzon Syndrome Cytomegalovirus Infection Diarrhea Encephalopathy Epilepsy Fanconi Anemia, Complementation Group E Fukuyama Type Muscular Dystrophy Hemimegalencephaly Holoprosencephaly Hurler Syndrome Hydranencephaly Hydrocephalus Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 Hypertonia Hypogonadism Hypotonia Ichthyosis Prematurity Syndrome Immune Suppression Leukodystrophy Lis1-Associated Lissencephaly/subcortical Band Heterotopia Lissencephaly 1 Lissencephaly 2 Lissencephaly 4 Lissencephaly with Cerebellar Hypoplasia Lissencephaly, X-Linked, 1 Lissencephaly, X-Linked, 2 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive Medulloblastoma Megalencephaly Meningitis Microcephaly Microlissencephaly Miller-Dieker Lissencephaly Syndrome Mongolian Spot Mood Disorder Muscle Eye Brain Disease Muscle Tissue Disease Muscular Dystrophy Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Lmna-Related Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy, Limb-Girdle, Type 2l Neuraminidase Deficiency Neuronal Migration Disorders Neuronitis Neuropathy Optic Nerve Hypoplasia, Bilateral Pachygyria Papillon-Lefevre Syndrome Periventricular Nodular Heterotopia Polydactyly Polyhydramnios Polymicrogyria Pontocerebellar Hypoplasia Potocki-Lupski Syndrome Primary Lateral Sclerosis, Adult, 1 Retinitis Retinitis Pigmentosa Retinitis Pigmentosa 13 Ring Chromosome 2 Roberts Syndrome Schinzel Giedion Syndrome Schizophrenia Semilobar Holoprosencephaly Spondyloocular Syndrome Subcortical Band Heterotopia Suppression of Tumorigenicity 12 T Cell Deficiency Tetralogy of Fallot Walker-Warburg Syndrome West Syndrome X-Linked Lissencephaly with Abnormal Genitalia