Informaţii despre

Nume Alacrima, Achalasia, and Mental Retardation Syndrome
Pagina Web www.malacards.org
Clasificare globală Malacards Boli genetice
Clasificare anatomică Malacards Boli neuronale; Boli psihice

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Boli A-Z 13q12.3 Microdeletion Syndrome 3-Methylglutaconic Aciduria 3q27.3 Microdeletion Syndrome Achalasia Achalasia-Addisonianism-Alacrima Syndrome Acromelic Frontonasal Dysostosis Adenocarcinoma Adnp-Related Intellectual Disability and Autism Spectrum Disorder Aggressive Periodontitis Aging Alazami Syndrome Alcohol Use Disorder Alexithymia Alopecia Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alpha-Thalassemia Alpha Thalassemia-X-Linked Intellectual Disability Syndrome Alport Syndrome, X-Linked Al-Raqad Syndrome Amenorrhea Angelman Syndrome Aniridia 1 Anisocoria Anorexia Nervosa 1 Apraxia Arteries, Anomalies of Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect Ataxia and Polyneuropathy, Adult-Onset Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus Ataxia-Oculomotor Apraxia 3 Attention Deficit-Hyperactivity Disorder Autism Autism Spectrum Disorder Autonomic Dysfunction Autonomic Neuropathy Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Autosomal Recessive Cerebellar Ataxia Ayme-Gripp Syndrome Basal Ganglia Disease Beaulieu-Boycott-Innes Syndrome Bipolar Disorder Bleeding Disorder, Platelet-Type, 11 Blepharophimosis Blepharophimosis Intellectual Disability Syndromes Blood Group--Ahonen Blood Group, Dombrock System Blood Group, I System Body Mass Index Quantitative Trait Locus 10 Body Mass Index Quantitative Trait Locus 11 Body Mass Index Quantitative Trait Locus 12 Body Mass Index Quantitative Trait Locus 14 Body Mass Index Quantitative Trait Locus 18 Body Mass Index Quantitative Trait Locus 4 Body Mass Index Quantitative Trait Locus 7 Body Mass Index Quantitative Trait Locus 8 Body Mass Index Quantitative Trait Locus 9 Brachydactyly Brain Ischemia Breast Cancer Brittle Bone Disorder Bruxism Burn-Mckeown Syndrome Burns Campomelic Dysplasia Camurati-Engelmann Disease Cataract Central Core Disease of Muscle Cerebellar Atrophy, Developmental Delay, and Seizures Cerebellar Hypoplasia Cerebral Palsy Cerebral Visual Impairment Cerebritis Cerebrotendinous Xanthomatosis Cervical Cancer Cervicitis Childhood-Onset Schizophrenia Chorioretinitis Chromosomal Triplication Chromosome 15q11.2 Deletion Syndrome Chromosome 16p13.3 Deletion Syndrome, Proximal Chromosome 18q Duplication Chromosome 1q41-Q42 Deletion Syndrome Chromosome Xp21 Deletion Syndrome Chronic Atrial and Intestinal Dysrhythmia Chronic Pain Cleft Lip Cleft Lip/palate Cleidocranial Dysplasia Spectrum Disorder Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy Conduct Disorder Congenital Chloride Diarrhea Congenital Contractures Congenital Hypothyroidism Congenital Ptosis Cornelia De Lange Syndrome Craniopharyngioma Craniosynostosis Cutis Verticis Gyrata Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures Danon Disease Dementia Dental Caries Dermatitis Diabetes Insipidus Diabetes Mellitus Diarrhea Dilated Cardiomyopathy Distal Arthrogryposis Down Syndrome Dwarfism Dyrk1a-Related Intellectual Disability Syndrome Dysautonomia Dysostosis Dysphagia Dysthymic Disorder Dystonia Early-Onset Parkinson Disease Eisenmenger Syndrome Encephalitis Encephalopathy Epicanthus Epilepsy Epilepsy with Myoclonic Absences Esophageal Atresia Familial Thyroid Dyshormonogenesis Fanconi Anemia, Complementation Group E Febrile Seizures Focal Epilepsy Fragile X Syndrome Fragile X Tremor/ataxia Syndrome Frontotemporal Dementia Galactosialidosis Gilbert Syndrome Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies Glucose Transporter Type 1 Deficiency Syndrome Glycerol Kinase Deficiency Gonadal Dysgenesis Granulocytopenia Growth Hormone Deficiency Gynecomastia Hashimoto Thyroiditis Hemochromatosis, Neonatal Hepatic Adenomas, Familial Hereditary Hemorrhagic Telangiectasia Hereditary Spastic Paraplegia Holoprosencephaly Holoprosencephaly 8 Hydrocephalus Hypercholesterolemia, Autosomal Dominant, 3 Hyperekplexia Hyperphenylalaninemia Hypertelorism Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Hypertrichosis Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 Hyperuricemia Hypoadrenocorticism, Familial Hypogonadism Hypogonadotropic Hypogonadism Hypohidrosis Hypospadias Hypotonia Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 Ichthyosis Impulse Control Disorder Infant Gynecomastia Iqsec2 Ischemia Isolated Growth Hormone Deficiency, Type Ia Jacobsen Syndrome Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome Kaufman Oculocerebrofacial Syndrome Kbg Syndrome Keratoconus Kleefstra Syndrome Koolen-De Vries Syndrome Lactic Acidosis Learning Disability Lennox-Gastaut Syndrome Limb-Girdle Muscular Dystrophy Lutheran Suppressor, X-Linked Lymphedema Lymphoma Macrocephaly/megalencephaly Syndrome, Autosomal Recessive Macrostomia, Isolated Major Affective Disorder 8 Major Affective Disorder 9 Malignant Spiradenoma Mbd5 Haploinsufficiency Mechanical Strabismus Meckel Syndrome, Type 1 Med23 Megalencephaly Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 5 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 Microcephaly Microphthalmia Moebius Syndrome Momo Syndrome Mood Disorder Mosaic Trisomy 14 Mowat-Wilson Syndrome Mucoepidermoid Carcinoma Multiple Acyl-Coa Dehydrogenase Deficiency Multiple Benign Circumferential Skin Creases on Limbs Multiple Personality Disorder Muscular Dystrophy Muscular Dystrophy, Duchenne Type Mutism Myocardial Infarction Myoclonic Epilepsy, Familial Infantile Myoclonus Myopathy Nephronophthisis Nephronophthisis 16 Neurodegeneration with Brain Iron Accumulation 2a Neurodegeneration with Brain Iron Accumulation 5 Neuroleptic Malignant Syndrome Neuronitis Neuropathy Neuropathy, Hereditary Sensory and Autonomic, Type Iii Neutropenia Neutrophilic Dermatosis, Acute Febrile Non-Syndromic Intellectual Disability Non-Syndromic X-Linked Intellectual Disability Obesity, Hyperphagia, and Developmental Delay Ohdo Syndrome Omphalocele Opitz-Kaveggia Syndrome Oral Cancer Paragangliomas 1 Paraphimosis Paraplegia Parkinson Disease 15, Autosomal Recessive Early-Onset Partington X-Linked Mental Retardation Syndrome Pelizaeus-Merzbacher-Like Disease Periodontal Disease Periodontitis Peripheral Artery Disease Periventricular Nodular Heterotopia Peroxisome Disorders Personality Disorder Pervasive Developmental Disorder Pettigrew Syndrome Peutz-Jeghers Syndrome Phelan-Mcdermid Syndrome Phenylketonuria Physical Disorder Pitt-Hopkins Syndrome Pontocerebellar Hypoplasia Potocki-Shaffer Syndrome Prader-Willi Syndrome Primrose Syndrome Progressive Encephalomyelitis with Rigidity and Myoclonus Ptosis Quadriplegia Renal Dysplasia Renpenning Syndrome 1 Retinitis Retinitis Pigmentosa Rett Syndrome Reye Syndrome Ring Chromosome 21 Roifman Syndrome Rutherfurd Syndrome Schizophrenia Scn2a Related Disorders Seizure Disorder Silver-Russell Syndrome Skin Creases, Congenital Symmetric Circumferential, 1 Sleep Disorder Spastic Cerebral Palsy Spasticity Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity Spastic Quadriplegia Specific Developmental Disorder Speech Disorder Split Foot Split Hand Split Hand-Split Foot Malformation Spondylocostal Dysostosis 1, Autosomal Recessive Sprengel Deformity Status Epilepticus Strabismus Substance Abuse Succinic Semialdehyde Dehydrogenase Deficiency Sudden Infant Death Syndrome Superior Mesenteric Artery Syndrome Syndromic Intellectual Disability Syndromic X-Linked Intellectual Disability Syndromic X-Linked Intellectual Disability Snyder Type Tardive Dyskinesia Tetraamelia Syndrome, Autosomal Recessive Thalassemia Three M Syndrome 1 Thrombocytopenia Thrombocytopenia Robin Sequence Thrombosis Thyroiditis Tremor Trichorhinophalangeal Syndrome Trichorhinophalangeal Syndrome, Type I Trio-Related Intellectual Disability Trisomy 22 Tritanopia Tuberous Sclerosis Vici Syndrome Visual Epilepsy Vitamin B12 Deficiency Wac-Related Intellectual Disability West Syndrome Williams-Beuren Syndrome Wilms Tumor 6 Xanthomatosis X-Linked Intellectual Disability, Najm Type X-Linked Non-Specific Intellectual Disability Xp11.22 Deletion