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Nume Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect
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Boli A-Z Ablepharon-Macrostomia Syndrome Acromelic Frontonasal Dysostosis Adducted Thumbs Syndrome Al-Gazali-Bakalinova Syndrome Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Al-Raqad Syndrome Anencephaly Aniridia 1 Ankylosis Anorexia Nervosa 1 Anterior Horn Cell Disease Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 5d Arthrogryposis Multiplex Congenita, Neurogenic Type Arthrogryposis, Renal Dysfunction, and Cholestasis 1 Ataxia and Polyneuropathy, Adult-Onset Ataxia-Oculomotor Apraxia 3 Atlantoaxial Subluxation Autism Autism Spectrum Disorder Autosomal Recessive Disease Bleeding Disorder, Platelet-Type, 11 Blepharophimosis Blood Group--Ahonen Blood Group, I System Boylan Dew Greco Syndrome Brittle Bone Disorder Brown Syndrome Bruck Syndrome Bruck Syndrome 1 Caudal Duplication Anomaly Cerebellar Hypoplasia Cerebral Palsy Cerebritis Charcot-Marie-Tooth Disease Cholestasis Chorioretinitis Chromosomal Triplication Chromosome 14q Deletion Chromosome 3q Duplication Cleft Lip Cleft Palate, Isolated Clubfoot Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly Congenital Amyoplasia Congenital Articular Rigidity Congenital Contractures Congenital Hypomyelination Neuropathy Congenital Myasthenic Syndrome Craniorachischisis Craniosynostosis 1 Dilated Cardiomyopathy Diprosopus Distal Arthrogryposis Dysosteosclerosis Dysostosis Ectodermal Dysplasia Encephalopathy Epilepsy Epithelial Recurrent Erosion Dystrophy Fanconi Anemia, Complementation Group E Fetal Akinesia Deformation Sequence Gingival Overgrowth Gingivitis Glycine Encephalopathy Glycogen Storage Disease Holoprosencephaly Hydranencephaly Hydronephrosis Hypopituitarism Hypotonia Hypoxia Ichthyosis Intestinal Atresia Intrahepatic Cholestasis Intrauterine Infections Juvenile Glaucoma Larsen Syndrome Leigh Syndrome Leiomyoma Lethal Arthrogryposis with Anterior Horn Cell Disease Lissencephaly Loeys-Dietz Syndrome Madelung Deformity Marden-Walker Syndrome Meningoencephalocele Microcephaly Microcephaly, Epilepsy, and Diabetes Syndrome Mitochondrial Complex I Deficiency Muscular Atrophy Muscular Dystrophy Muscular Dystrophy, Congenital, Producing Arthrogryposis Myelomeningocele Myopathy Myopathy, Proximal, and Ophthalmoplegia Nail-Patella Syndrome Nemaline Myopathy Neuraminidase Deficiency Neurogenic Bladder Neuromuscular Disease Neuronitis Neuropathy Oligohydramnios Omphalocele Pachygyria Pelizaeus-Merzbacher Disease Podder-Tolmie Syndrome Polydactyly Polymicrogyria Prader-Willi Syndrome Proteus Syndrome Ptosis Quadriplegia Renal Tubular Acidosis Restrictive Dermopathy, Lethal Rift Valley Fever Schaaf-Yang Syndrome Scoliosis Seckel Syndrome Semilobar Holoprosencephaly Spasticity Spastic Quadriplegia Spinal Muscular Atrophy Spondylospinal Thoracic Dysostosis Talipes Equinovarus Tetraamelia Syndrome, Autosomal Recessive Thumb Deformity Tooth Disease Trigger Thumb Velocardiofacial Syndrome Wilms Tumor 6