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Boli A-Z | | 3-Methylcrotonyl-Coa Carboxylase Deficiency
5q31.3 Microdeletion Syndrome
Achondroplasia
Acrocephalopolydactylous Dysplasia
Adrenomyodystrophy
Aging
Al-Raqad Syndrome
Alternating Hemiplegia of Childhood
Angelman Syndrome
Aniridia 1
Anorexia Nervosa 1
Aphasia
Apraxia
Arteriovenous Fistula
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
Auriculo-Condylar Syndrome
Autism
Ayme-Gripp Syndrome
Baraitser-Winter Syndrome 1
Bifid Nose
Biotinidase Deficiency
Blepharophimosis
Blood Group--Ahonen
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
Campomelic Dysplasia
Canavan Disease
Carey-Fineman-Ziter Syndrome
Cataract
Cerebral Palsy
Cerebritis
Cervicitis
Chiari Malformation
Choroiditis
Chromosomal Triplication
Chromosome 10q Duplication
Chromosome 14q Deletion
Chromosome 3q Duplication
Chromosome 8p23.1 Deletion
Cohen Syndrome
Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy
Cone-Rod Dystrophy 2
Congenital Amyoplasia
Congenital Contractures
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Congenital Hemolytic Anemia
Congenital Hypothyroidism
Congenital Nystagmus
Constipation
Cortical Blindness
Cystinuria
D-2-Hydroxyglutaric Aciduria 1
D-Bifunctional Protein Deficiency
Dementia
Der Kaloustian Mcintosh Silver Syndrome
Developmental Coordination Disorder
Diabetes Insipidus
Diamond-Blackfan Anemia
Distal Arthrogryposis
Down Syndrome
Dwarfism
Dysostosis
Dystonia
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency
Dystrophinopathies
Ehlers-Danlos Syndrome
Encephalopathy
Epilepsy
Essential Tremor
Fainting
Fanconi Anemia, Complementation Group E
Fumarase Deficiency
Galactosemia
Gastric Cancer
Gastritis
Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies
Glossitis
Glucose Transporter Type 1 Deficiency Syndrome
Glycogen Storage Disease
Glycogen Storage Disease Iv
Goldberg-Shprintzen Syndrome
Haemophilus Influenzae
Hemidystonia
Hemifacial Microsomia
Hemiparkinsonism-Hemiatrophy Syndrome
Hemiplegia
Hemolytic Anemia
Hepatitis
Hydrocephalus
Hydronephrosis
Hyperphenylalaninemia
Hyperphenylalaninemia, Bh4-Deficient, B
Hypertelorism
Hypertonia
Hypertrophic Cardiomyopathy
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Hyperuricemia
Hypoglycemia
Hypogonadism
Hypomelanotic Disorder
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
Hypotonia, Congenital Nystagmus, Ataxia, and Abnormal Auditory Brainstem Responses
Hypotonia-Cystinuria Syndrome
Hypotonia, Infantile, with Psychomotor Retardation
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2
Hypotonia, Seizures, and Precocious Puberty
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hypoxia
Infant Botulism
Infantile Hypotonia
Influenza
Kleefstra Syndrome
Koolen-De Vries Syndrome
Labyrinthitis
Lactic Acidosis
Learning Disability
Lymphedema
Lymphoma
Macrostomia, Isolated
Malignant Hyperthermia
Malonyl-Coa Decarboxylase Deficiency
Mast Cell Activation Syndrome
May-Hegglin Anomaly
Megalocornea
Meningitis
Mental Retardation, X-Linked 49
Mevalonic Aciduria
Microcephaly
Microphthalmia
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Mitochondrial Dna Depletion Syndrome 4a
Mitochondrial Myopathy
Mucolipidosis Iv
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Muscular Atrophy
Muscular Dystrophy
Muscular Dystrophy, Duchenne Type
Myopathy
Myopia
Myotonic Dystrophy
Myxedema
Nemaline Myopathy
Nephrotic Syndrome
Neurofibromatosis, Type Iv, of Riccardi
Neuroleptic Malignant Syndrome
Neuronitis
Neuropathy
Obesity, Hyperphagia, and Developmental Delay
Ocular Motor Apraxia
Orbital Margin, Hypoplasia of
Osteosclerotic Metaphyseal Dysplasia
Pachygyria
Paraplegia
Peritonitis
Peutz-Jeghers Syndrome
Pharyngitis
Polyglucosan Body Myopathy 1 with or Without Immunodeficiency
Pontocerebellar Hypoplasia
Potocki-Shaffer Syndrome
Prader-Willi Syndrome
Precocious Puberty
Prostatitis
Ptosis
Pyle Disease
Qazi Markouizos Syndrome
Retinal Detachment
Retinitis
Rett Syndrome
Rhombencephalosynapsis
Rickets
Scalp-Ear-Nipple Syndrome
Scn2a Related Disorders
Scoliosis
Sensorineural Hearing Loss
Skeletal Dysplasias
Sleep Apnea
Sotos Syndrome 1
Spasticity
Spinal Muscular Atrophy
Strabismus
Succinic Semialdehyde Dehydrogenase Deficiency
Syndromic Intellectual Disability
Synostosis
Tay-Sachs Disease
Telecanthus
Tetrasomy 5p
Three M Syndrome 1
Thrombosis
Thyroiditis
Tremor
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
Triosephosphate Isomerase Deficiency
Unc80 Deficiency
Zellweger Syndrome |
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