| Episodic Ataxia, Type 7 |
|
Muscle weakness, Episodic ataxia |
OMIM:611907 |
| Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... |
ORPHA:280397 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Aggressive behavior, Hyperactivity |
OMIM:309548 |
| Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Progressive muscle weakness, Distal lower limb muscle we... |
ORPHA:399096 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Wrist drop, Generalized muscle weakness, Proximal muscle weakness in upper limbs, Ankle weakness,... |
ORPHA:98912 |
| Autism, Susceptibility To, X-Linked 4 |
|
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:300830 |
| Mental Retardation, Autosomal Dominant 52 |
|
Anxiety, Hyperactivity |
OMIM:617796 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Neck muscle weakness, Facial diplegia, Progressive distal muscle weakness, Respiratory insufficie... |
ORPHA:399058 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory insufficiency, Cerebral dysmyelination, Respiratory failure, Death in ... |
OMIM:611722 |
| Multifocal Motor Neuropathy |
|
Progressive distal muscle weakness, Progressive muscle weakness, Limb muscle weakness |
ORPHA:641 |
| Distal Myopathy With Anterior Tibial Onset |
|
Limb-girdle muscle weakness, Tibialis muscle weakness, Progressive proximal muscle weakness |
ORPHA:178400 |
| Desminopathy |
|
Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Respiratory insu... |
ORPHA:98909 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Scoliosis, Hyperlordosis, Abnormal lower motor neuron morphology, Respiratory insufficiency due t... |
OMIM:611067 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Atlantoaxial instability, Spondylolysis, Os odontoideum, Lumbar hyperlordosis, Respiratory failur... |
OMIM:600561 |
| Myopathy, Myofibrillar, 4 |
|
Progressive distal muscle weakness, Progressive muscle weakness, Progressive proximal muscle weak... |
OMIM:609452 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Scoliosis, Abnormal anterior horn cell morphology, Kyphosis, Cerebral atrophy, Respiratory insuff... |
OMIM:611890 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Immunodeficiency 8 |
|
Lymphopenia, Hyperactivity |
OMIM:615401 |
| Myopathy, Scapulohumeroperoneal |
|
Wrist drop, Progressive muscle weakness, Facial palsy, Foot dorsiflexor weakness, Neck flexor wea... |
OMIM:616852 |
| Mental Retardation, Autosomal Recessive 37 |
|
Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Myopathy And Diabetes Mellitus |
|
Impaired vibratory sensation, Weakness of orbicularis oculi muscle, Pelvic girdle muscle weakness... |
ORPHA:2596 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Irritability, Hyperactivity |
OMIM:616657 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Laing Early-Onset Distal Myopathy |
|
Neck muscle weakness, Weakness of orbicularis oculi muscle, Distal muscle weakness, Proximal musc... |
ORPHA:59135 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Progressive proximal muscle weakness, Distal sensory impairment |
ORPHA:399086 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Cerebral atrophy, Degeneration of anterior horn cells, Respiratory insufficiency, Respiratory fai... |
OMIM:600333 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weakness, Spinal rigi... |
OMIM:300718 |
| Peroxisome Biogenesis Disorder 11B |
|
Muscle weakness, Progressive muscle weakness |
OMIM:614885 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Axial muscle weakness, Progressive proximal muscle weakness, Respiratory insufficiency due to mus... |
ORPHA:663 |
| Myosclerosis, Autosomal Recessive |
|
Decreased pulmonary function, Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Red... |
OMIM:255600 |
| Central Diabetes Insipidus |
|
Lethargy, Hyponatremia, Anxiety, Depression |
ORPHA:178029 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Rigid Spine Syndrome |
|
Scoliosis, Abnormality on pulmonary function testing, Hyperlordosis, Pneumonia, Respiratory insuf... |
ORPHA:97244 |
| Arts Syndrome |
|
Progressive muscle weakness, Ataxia |
OMIM:301835 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the brainstem, Death in infancy, Respiratory failure, Microcephaly, Hypoplasia of t... |
OMIM:225753 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Amyotrophic Lateral Sclerosis 8 |
|
Distal muscle weakness, Progressive muscle weakness, Proximal muscle weakness |
OMIM:608627 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Scoliosis, Hyperlordosis, Respiratory insufficiency, Spinal rigidity, Microcephaly |
OMIM:617404 |
| Distal Nebulin Myopathy |
|
Progressive distal muscle weakness, Progressive proximal muscle weakness, Neck flexor weakness, F... |
ORPHA:399103 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia, Ataxia |
OMIM:616949 |
| Oculopharyngodistal Myopathy |
|
Distal upper limb muscle weakness, Fatigable weakness of bulbar muscles, Progressive distal muscl... |
ORPHA:98897 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Difficulty walking, Apathy, Increased erythrocyte protoporphyrin concentration, Hypon... |
ORPHA:100924 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... |
ORPHA:40 |
| Neuroleptic Malignant Syndrome |
|
Hypocalcemia, Tremor, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, E... |
ORPHA:94093 |
| Amish Nemaline Myopathy |
|
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness |
ORPHA:98902 |
| Pyruvate Carboxylase Deficiency |
|
Tremor, Dystonia, Apathy, Hypernatremia, Hypoglutaminemia, Increased level of L-glutamic acid in ... |
ORPHA:3008 |
| Glycine Encephalopathy |
|
Lethargy, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Hyperactivity |
OMIM:605899 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... |
ORPHA:412066 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Scoliosis, Hypoplasia of the corpus callosum, Kyphosis, Respiratory insufficiency due to muscle w... |
OMIM:618291 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Irritability |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, X-Linked |
|
Hypernatremia, Irritability |
OMIM:304800 |
| Distal Myotilinopathy |
|
Progressive distal muscle weakness, Progressive proximal muscle weakness |
ORPHA:98911 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... |
OMIM:619191 |
| Duchenne Muscular Dystrophy |
|
Progressive muscle weakness, Proximal muscle weakness |
ORPHA:98896 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Sensory ataxia, Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscl... |
OMIM:609286 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Scoliosis, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, R... |
ORPHA:370968 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Scoliosis, Tremor, Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscl... |
ORPHA:2590 |
| Achondroplasia |
|
Brain stem compression, Megalencephaly, Lumbar kyphosis in infancy, Lumbar hyperlordosis, Upper a... |
OMIM:100800 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Hyperlordosis, Reduced vital capacity |
OMIM:617760 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Scoliosis, Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Respi... |
OMIM:614399 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Hyperlordosis, Reduced vital capacity |
OMIM:607088 |
| Masa Syndrome |
|
Hyperlordosis, Microcephaly, Kyphosis, Agenesis of corpus callosum |
OMIM:303350 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Dystonia, Ataxia, Hypertriglyceridemia, Hyperactivity, Mental deterioration |
OMIM:615924 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness |
OMIM:619024 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Muscle weakness, Respiratory insufficiency due to muscle weakness, Progressive external ophthalmo... |
ORPHA:254875 |
| Hyperlysinemia, Type I |
|
Cognitive impairment, Anemia, Hyperlysinemia, Hyperactivity |
OMIM:238700 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Hypoplasia of the corpus callosum, Respiratory failure, Cerebral cortical atrophy, Respiratory in... |
OMIM:616081 |
| Myopathy, Congenital, With Tremor |
|
Scoliosis, Postural tremor, Tongue tremor, Lumbar hyperlordosis, Spinal rigidity |
OMIM:618524 |
| Smith-Magenis syndrome |
|
Self-mutilation, Hyperactivity |
DECIPHER:8 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Scoliosis, Platyspondyly, Thoracic kyphosis, Irregular vertebral endplates, Lumbar hyperlordosis,... |
OMIM:609223 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Scoliosis, Lumbar hyperlordosis, Respiratory insufficiency |
OMIM:619042 |
| Spinocerebellar Ataxia 14 |
|
Gait ataxia, Depression, Progressive cerebellar ataxia, Dysmetria, Focal dystonia, Memory impairm... |
OMIM:605361 |
| Huntington Disease-Like 2 |
|
Dystonia, Dementia, Depression, Apathy, Action tremor, Bradykinesia, Irritability, Anxiety |
OMIM:606438 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, ... |
ORPHA:90117 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Hyponatremia, Irritability, Decreased serum creatinine |
OMIM:300539 |
| Infantile Refsum Disease |
|
Progressive muscle weakness, Facial palsy, Ataxia |
ORPHA:772 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Aggressive behavior, Ataxia, Hyperactivity |
OMIM:239500 |
| Marinesco-Sjogren Syndrome |
|
Limb ataxia, Progressive muscle weakness, Gait ataxia, Ataxia |
OMIM:248800 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Dementia, Depression, Resting tremor, Bradykinesia, Anxiety |
OMIM:605909 |
| Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Respiratory insuffici... |
OMIM:603034 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Respiratory failure |
OMIM:301021 |
| Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Broad metatarsal, Trigonocephaly, Brachycephaly, Broad phalanx, Prominent metopic ridge |
OMIM:275595 |
| Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal brainste... |
ORPHA:99852 |
| Atelosteogenesis, Type Ii |
|
Scoliosis, Platyspondyly, Stillbirth, Coronal cleft vertebrae, Death in infancy, Respiratory insu... |
OMIM:256050 |
| Phenylketonuria |
|
Self-mutilation, Maternal hyperphenylalaninemia, Aggressive behavior, Depression, Hyperphenylalan... |
OMIM:261600 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Tremor, Hypoplasia of the corpus callosum, Cerebral atrophy, Death in infancy, Respiratory... |
OMIM:617248 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Cerebral atrophy, Respiratory insufficiency, Respiratory failure, Microcephaly |
OMIM:610127 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Cerebral atrophy, Respiratory failure |
OMIM:618637 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Basal ganglia gliosis, Degeneration of anterior horn cells, Respiratory insufficiency, Neuronal l... |
OMIM:607596 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... |
ORPHA:300573 |
| Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness |
OMIM:300076 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Dyspnea, Respiratory distress, Respiratory failure, Microcephaly, Short neck |
ORPHA:1832 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Muscle weakness, Progressive muscle weakness, Ataxia |
OMIM:615919 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Hyperlordosis, Spinal rigidity, Death in infancy, Respiratory insufficiency |
ORPHA:157973 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Pelvic girdle muscle weakness, Generalized muscle weakness, Gowers sign, Distal lower limb muscle... |
ORPHA:254361 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Depression, Leukocytosis, Hyponatremia, Thrombocytopenia, Anxiety |
ORPHA:83601 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Kyphosis, Respiratory insufficiency, Thoracolumbar scoliosis, Respiratory failure |
OMIM:313420 |
| Isolated Brachycephaly |
|
Midface retrusion, Metacarpal synostosis, Hearing impairment, Brachycephaly, Brachydactyly |
ORPHA:35099 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Tremor, Dystonia, Transient hyperphenylalaninemia, Aggressive behavior, Ataxia, Hyperactivity |
OMIM:612716 |
| Autosomal Recessive Centronuclear Myopathy |
|
Progressive muscle weakness, Gowers sign, Ophthalmoplegia, Facial palsy, Facial diplegia, Ophthal... |
ORPHA:169186 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Pachygyria, Neuronal loss in the cerebral cortex, Neonatal respirator... |
ORPHA:168486 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Tremor, Bipolar affective disorder, Aggressive behavior, Broad-based gait, Resting tremor, Irrita... |
ORPHA:3077 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... |
ORPHA:266 |
| Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis, Apnea |
OMIM:614198 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Scoliosis, Hypoplasia of the corpus callosum, Kyphosis, Cerebral atrophy, Lumbar hyperlordosis, M... |
OMIM:616756 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Impulsivity, Aggressive behavior, Hyperactivity |
OMIM:604317 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... |
OMIM:267700 |
| Nemaline Myopathy 5 |
|
Progressive muscle weakness |
OMIM:605355 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Scoliosis, Hyperlordosis, Kyphosis |
OMIM:600175 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Abnormal brainstem MRI signal intensity, Abnormality of the basal ganglia, Small basal ganglia, R... |
ORPHA:263410 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Hyperlordosis, Obstructive sleep apnea, Exertional dyspnea |
ORPHA:352470 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Dementia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia,... |
ORPHA:248111 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Gait ataxia, Progressive external ophthalmoplegia, Progressive muscle weakness, Facial palsy, Imp... |
OMIM:157640 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Progressive muscle weakness |
OMIM:252320 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Aggressive behavior, Ataxia, Hyperactivity |
OMIM:300983 |
| Congenital Bowing Of Long Bones |
|
Hyperlordosis |
ORPHA:2292 |
| Pandas |
|
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... |
ORPHA:66624 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoid process |
ORPHA:93315 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Metatropic Dysplasia |
|
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Kyphosis, Respiratory insufficiency, Caudal... |
OMIM:156530 |
| Hyperekplexia 4 |
|
Cerebral atrophy, Respiratory failure, Kyphoscoliosis |
OMIM:618011 |
| Vacterl Association With Hydrocephalus |
|
Abnormality of the vertebral column, Abnormal vertebral morphology, Stillbirth, Aqueductal stenos... |
OMIM:276950 |
| Muscular Dystrophy, Congenital, 1B |
|
Spinal rigidity, Respiratory failure |
OMIM:604801 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Neonatal respiratory distress, Respirato... |
OMIM:619057 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal corpus... |
ORPHA:255182 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory failure, Respiratory insufficiency |
OMIM:613869 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Pachygyria, Kyphosis, Abnormal cerebral... |
OMIM:606612 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Scoliosis, Lumbar hyperlordosis |
OMIM:602484 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Hyperlordosis, Back pain |
OMIM:618129 |
| Nemaline Myopathy 3 |
|
Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Respiratory insuffici... |
OMIM:161800 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Progressive muscle weakness, Ataxia |
OMIM:607426 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Ataxia |
OMIM:618426 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity |
OMIM:618090 |
| Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Brachycephaly, Frontal bossing, Plagiocephaly |
OMIM:300064 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:408 |
| Dystonia With Ringbinden |
|
Hyperlordosis |
OMIM:224550 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scoliosis, Hyperlordosis |
OMIM:616228 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Fraxe Intellectual Disability |
|
Impulsivity, Aggressive behavior, Hyperactivity |
ORPHA:100973 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Hyperlordosis, Coronal cleft vertebrae, Abnormal vertebral morphology, Irregular verte... |
OMIM:618363 |
| Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Lumbar hyperlordosis |
OMIM:253320 |
| Mental Retardation, Autosomal Dominant 43 |
|
Impulsivity, Anxiety, Hyperactivity |
OMIM:616977 |
| Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
| Ck Syndrome |
|
Scoliosis, Hyperlordosis, Pachygyria, Kyphosis, Polymicrogyria, Microcephaly |
OMIM:300831 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
| Hypochondroplasia |
|
Scoliosis, Hyperlordosis, Sleep apnea, Abnormal form of the vertebral bodies, Spinal canal stenosis |
ORPHA:429 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Abnormality of the vertebral column, Amyotrophic lateral sclerosis, Abnormal motor... |
ORPHA:52430 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Truncal ataxia, Progressive proximal muscle weakness |
ORPHA:369847 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Scoliosis, Fusion of the left and right thalami, Abnormality of the anterior commissure, Midline ... |
OMIM:617542 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... |
OMIM:603553 |
| Lennox-Gastaut Syndrome |
|
Personality disorder, Aggressive behavior, Falls, Hyperactivity, Mental deterioration |
ORPHA:2382 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly |
ORPHA:231393 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Progressive muscle weakness |
OMIM:600462 |
| Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity |
OMIM:248510 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Scoliosis, Hyperlordosis, Hypoplasia of the corpus callosum, Respiratory insufficiency, Cerebral ... |
OMIM:613156 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis |
ORPHA:280333 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Microcephaly, Spinal rigidity |
OMIM:609308 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Death in infancy, Respiratory insuf... |
OMIM:245400 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Landau-Kleffner Syndrome |
|
Gait ataxia, Aggressive behavior, Steppage gait, Depression, Emotional lability, Social and occup... |
ORPHA:98818 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Microcytic anemia, Anemia, Splenomegaly, Cognitive impairment, Hypersplenism, A... |
ORPHA:846 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Irritability, Anemia, Splen... |
ORPHA:848 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Temporal cortical atrophy, Frontal cortical atrophy, Back pain, Amyotrophic lateral sclerosis, Lu... |
OMIM:167320 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Scoliosis, Hyperlordosis, Spina bifida occulta, Microcephaly, Short neck, Vertebral segmentation ... |
ORPHA:1797 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:214700 |
| Bethlem Myopathy |
|
Neck muscle weakness, Muscle weakness, Reduced maximal expiratory pressure, Quadriceps muscle wea... |
ORPHA:610 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology, Head tremor, Abnormal motor neuron morphology, Leukoencephalo... |
OMIM:613724 |
| Nemaline Myopathy 2 |
|
Scoliosis, Apnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Spinal rigidity |
OMIM:256030 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis |
ORPHA:363454 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Tremor, Death in infancy, Myelopathy, Respiratory failure, Leukoencephalopathy, Cerebral edema |
OMIM:617186 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia, Flat occiput, Brachycephaly, Plagiocephaly |
ORPHA:2898 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Hyperlordosis, Hypoplasia of the brainstem, Increased vertebral height, Kinetic tremor, Abnormal ... |
OMIM:616817 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
| Joubert Syndrome 7 |
|
Scoliosis, Hypoplasia of the brainstem, Brainstem dysplasia, Episodic tachypnea, Central apnea, A... |
OMIM:611560 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral atrophy, R... |
OMIM:615330 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dyspnea, Kyphosis, Respiratory insufficiency due to muscle weakness, Spinal rigidity, Respiratory... |
ORPHA:352447 |
| Hypochondroplasia |
|
Lumbar hyperlordosis |
OMIM:146000 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Progressive muscle weakness, Facial palsy, Limb muscle weakness, Progressive external ophthalmopl... |
OMIM:610131 |
| Ck Syndrome |
|
Pachygyria, Lumbar hyperlordosis, Polymicrogyria, Kyphoscoliosis, Microcephaly, Abnormal cerebral... |
ORPHA:251383 |
| Stiff Person Spectrum Disorder |
|
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety |
ORPHA:3198 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:605711 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Aggressive behavior, Elevated circulating gamma-aminobutyric acid concentration, Self-injurious b... |
OMIM:271980 |
| Chromosome 3Q29 Deletion Syndrome |
|
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity |
OMIM:609425 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hypokalemia, Self-biting, Hyperactivity |
OMIM:618314 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Hyperlordosis, Thoracic scoliosis |
ORPHA:62 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hyperlordosis |
OMIM:615290 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:618362 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:228940 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Inapprop... |
ORPHA:309246 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Spinal cord compression, Microcephaly, Short neck, Fused cervical vertebrae |
ORPHA:2522 |
| Mucolipidosis Type Iii |
|
Hyperlordosis, Abnormal form of the vertebral bodies |
ORPHA:577 |
| Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hyperuricemia, Thrombocytopenia, Anemia, Leukopenia, Hypomagnesemia |
OMIM:613845 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Hearing impairment, Craniosynostosis, Thickened calvaria, Brachycephaly |
ORPHA:178377 |
| Mental Retardation, Autosomal Recessive 39 |
|
Aggressive behavior, Hyperactivity |
OMIM:615541 |
| Hyperkalemic Periodic Paralysis |
|
Gait disturbance, Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:682 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Anxiety, Aggressive behavior, Hyperactivity |
OMIM:300558 |
| Craniosynostosis And Dental Anomalies |
|
Craniosynostosis, Lambdoidal craniosynostosis, Short phalanx of finger, Sagittal craniosynostosis... |
OMIM:614188 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... |
OMIM:602433 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Anauxetic Dysplasia 2 |
|
Hyperlordosis, Ovoid vertebral bodies, Cervical spine instability, Thoracolumbar kyphoscoliosis, ... |
OMIM:617396 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Isolated Plagiocephaly |
|
Midface retrusion, Hearing impairment, Frontal bossing, Plagiocephaly |
ORPHA:35098 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Sotos Syndrome 3 |
|
Hyperactivity |
OMIM:617169 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Scoliosis, Dyspnea, Respiratory distress, Cough, Lumbar hyperlordosis, Spinal rigidity, Microcephaly |
ORPHA:86812 |
| Myopathy, Centronuclear, 2 |
|
Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis |
OMIM:255200 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Scoliosis, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Lumbar hy... |
OMIM:255310 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis, Cerebral cortical atrophy, Tremor |
ORPHA:1192 |
| Septopreoptic Holoprosencephaly |
|
Abnormality of the septum pellucidum, Abnormal vertebral morphology, Abnormal midbrain morphology... |
ORPHA:280195 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Pontocerebellar Hypoplasia Type 10 |
|
Simplified gyral pattern, Abnormal brainstem morphology, Abnormal cerebral cortex morphology |
ORPHA:411493 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Scoliosis, Kyphosis, Spinal rigidity, Respiratory failure, Short neck |
ORPHA:75840 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Asbestos Intoxication |
|
Restrictive ventilatory defect, Wheezing, Dyspnea, Late inspiratory crackles, Exertional dyspnea,... |
ORPHA:2302 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Vacuolated lymphocytes, Neutropenia, Pancytopenia, ... |
ORPHA:167 |
| Muscular Dystrophy, Duchenne Type |
|
Scoliosis, Hyperlordosis, Hypoventilation, Respiratory insufficiency, Respiratory failure |
OMIM:310200 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Acrocapitofemoral Dysplasia |
|
Scoliosis, Ovoid vertebral bodies, Hyperlordosis |
ORPHA:63446 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, Hyperactivity |
OMIM:618718 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia |
OMIM:613090 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Scoliosis, Restrictive ventilatory defect, Thoracic kyphoscoliosis, Exertional dyspnea, Orthopnea... |
ORPHA:98913 |
| Cholera |
|
Hypocalcemia, Lethargy, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Irritability |
ORPHA:173 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:614373 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Kyphosis, Vertebral fusion, Reduced for... |
OMIM:607155 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the brainstem, Diffuse white matter abnormalities, Type II lissencephaly, Olivopont... |
ORPHA:370959 |
| Fibrodysplasia Ossificans Progressiva |
|
Scoliosis, Small cervical vertebral bodies, Respiratory insufficiency, Basal ganglia calcificatio... |
OMIM:135100 |
| Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Respiratory failure, Death in infancy, Death in childhood |
OMIM:619334 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Abnormal respiratory system physiology, Amyotrophic lateral sclerosis, Respiratory failu... |
ORPHA:803 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Blepharospasm, Resting tremor, Bradykinesia, Leg dystonia, Anxiety |
OMIM:606324 |
| Leigh Syndrome |
|
Respiratory failure, Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Abnorma... |
OMIM:256000 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Myelitis |
ORPHA:71211 |
| Cln5 Disease |
|
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Aggressive behavior, Ataxia, Unste... |
ORPHA:228360 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hyperlordosis, Microcephaly, Cerebral white matter atrophy |
ORPHA:369840 |
| Oculocerebrodental Syndrome |
|
Scoliosis, Hyperlordosis, Abnormality of thalamus morphology, Thoracic kyphosis, Dysplastic corpu... |
ORPHA:557003 |
| Craniosynostosis 2 |
|
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Brachytu... |
OMIM:604757 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Abnormality of the vertebral column, Lumbar hyperlordosis, Abnormality of the inte... |
ORPHA:99642 |
| Wieacker-Wolff Syndrome |
|
Scoliosis, Hyperlordosis, Apnea, Kyphosis, Cerebral atrophy, Neonatal respiratory distress, Micro... |
OMIM:314580 |
| Necrotizing Enterocolitis |
|
Lethargy, Leukocytosis, Hyponatremia, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
| Pneumocystosis |
|
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... |
ORPHA:723 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the antihelix, Craniosynostosis, Finger syndactyly, Split hand, Brachycephaly, Mic... |
ORPHA:2145 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Scoliosis, Hyperlordosis, Pneumonia, Restrictive ventilatory defect |
OMIM:253700 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Ventilator dependence with inability to wean, Inspiratory stridor, Degeneration of anterior horn ... |
OMIM:604320 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hyperlordosis, Spinal rigidity |
ORPHA:267 |
| Cebalid Syndrome |
|
Midface retrusion, Platystencephaly, Abnormality of the pinna, Plagiocephaly, Posteriorly rotated... |
OMIM:618774 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Scoliosis, Cerebral cortical atrophy, Hyperlordosis, Microcephaly |
ORPHA:1387 |
| Pseudodiastrophic Dysplasia |
|
Scoliosis, Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, T... |
OMIM:264180 |
| Mucopolysaccharidosis, Type Iva |
|
Scoliosis, Hyperlordosis, Platyspondyly, Restrictive ventilatory defect, Ovoid vertebral bodies, ... |
OMIM:253000 |
| Spinocerebellar Ataxia Type 1 |
|
Atrophy/Degeneration affecting the brainstem, Respiratory failure, Postural tremor, Abnormal brai... |
ORPHA:98755 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
| Mental Retardation, Autosomal Dominant 23 |
|
Scoliosis, Hyperlordosis, Sacral dimple, Kyphosis |
OMIM:615761 |
| Mucopolysaccharidosis, Type Ivb |
|
Scoliosis, Hyperlordosis, Platyspondyly, Restrictive ventilatory defect, Ovoid vertebral bodies, ... |
OMIM:253010 |
| Sickle Cell Anemia |
|
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... |
ORPHA:232 |
| Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Difficulty walking, Hyperbilirubinemia, Hyponatremia, Neut... |
ORPHA:1667 |
| Humeroradial Synostosis With Craniofacial Anomalies |
|
Small earlobe, Humeroradial synostosis, Tarsal synostosis, Frontal bossing, Plagiocephaly, Brachy... |
OMIM:236410 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Cough, Respiratory failure, Respiratory distress |
OMIM:263000 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Opisthotonus, Polymicrogyria, Respiratory failure, Microcephaly |
OMIM:610678 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Distal muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairment |
OMIM:118210 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
| Triosephosphate Isomerase Deficiency |
|
Muscle weakness, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness |
OMIM:615512 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... |
ORPHA:90038 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hyperlordosis |
OMIM:611588 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Fatigable weakness of bulbar muscles, Pelvic girdle muscle weakness, Respiratory insufficiency du... |
ORPHA:2020 |
| Whipple Disease |
|
Depression, Hyponatremia, Ataxia, Anemia, Splenomegaly |
ORPHA:3452 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Respiratory fail... |
ORPHA:444013 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... |
OMIM:265120 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity |
OMIM:301013 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Lethargy, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Irregular vertebral endplates, Lumbar hyperlordosis, Cervical subluxation, Kyphosc... |
OMIM:184100 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait |
ORPHA:411515 |
| Jansen-De Vries Syndrome |
|
Hyperlordosis |
OMIM:617450 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis |
OMIM:613818 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia |
OMIM:602522 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Scoliosis, Hyperlordosis, Abnormal brainstem MRI signal intensity, Hypoventilation, Pachygyria, P... |
ORPHA:258 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Scoliosis, Hyperlordosis, Tremor, Kyphosis |
OMIM:128100 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Atlantoaxial instability, Platyspondyly, Restrictive ventilatory defect, Respiratory d... |
OMIM:183900 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor |
OMIM:181405 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Respiratory failure, Central hypoventilation, Leukoencephalopathy |
OMIM:618233 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Hyponatremia, Anxiety, Anemia |
ORPHA:79473 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... |
OMIM:610921 |
| Muenke Syndrome |
|
Broad thumb, Short middle phalanx of toe, Midface retrusion, Short middle phalanx of finger, Plag... |
OMIM:602849 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Sleep apnea, Hypoplasia of the corpus callosum, Kyphosis, Megalencephaly, Central ... |
OMIM:616482 |
| Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:1930 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Scoliosis, Tremor, Basal ganglia calcification, Respiratory failure, Intention tremor |
OMIM:616505 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Scoliosis, Secondary microcephaly, Hyperlordosis |
OMIM:300986 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Scoliosis, Platyspondyly, Abnormal respiratory system physiology, Laryngotracheomalacia, Kyphosis... |
ORPHA:94068 |
| Early-Onset Schizophrenia |
|
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... |
ORPHA:96369 |
| Mucolipidosis Iii Gamma |
|
Scoliosis, Hyperlordosis, Short neck, Kyphosis |
OMIM:252605 |
| Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness |
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Lumbar hyperlordosis, Platyspondyly, Short neck |
OMIM:184000 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Dyspnea, Respiratory distress, Abnormal form of the vertebral bodies, Hemivertebrae, Respiratory ... |
ORPHA:2759 |
| Typical Nemaline Myopathy |
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Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency, Spinal rigidity, Short neck, Noctu... |
ORPHA:171436 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
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Scoliosis, Platyspondyly, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process |
OMIM:184250 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
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Aggressive behavior, Hyperactivity |
OMIM:618342 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
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Respiratory failure, Tremor, Cerebral atrophy, Caudate atrophy |
ORPHA:363400 |
| Combined Oxidative Phosphorylation Deficiency 52 |
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Respiratory failure, Death in infancy |
OMIM:619386 |
| Potocki-Shaffer Syndrome |
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Wormian bones, Parietal foramina, Cutaneous syndactyly between fingers 2 and 5, Brachycephaly, Br... |
OMIM:601224 |
| Arnold-Chiari Malformation Type Ii |
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Apnea, Brain stem compression, Inspiratory stridor, Pneumonia, Aqueductal stenosis, Meningocele, ... |
ORPHA:1136 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
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Scoliosis, Microcephaly, Hyperlordosis |
ORPHA:2511 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Muscle weakness, Progressive muscle weakness, Limb-girdle muscle weakness |
ORPHA:370 |
| Guanidinoacetate Methyltransferase Deficiency |
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Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis |
ORPHA:382 |
| Myotonia Permanens |
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Hyperlordosis, Dyspnea, Asthma |
ORPHA:99735 |
| Late-Onset Isolated Acth Deficiency |
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Lethargy, Hyponatremia, Hyperuricemia, Normocytic anemia, Hypercalcemia, Eosinophilia, Macrocytic... |
ORPHA:199299 |
| Duchenne And Becker Muscular Dystrophy |
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Scoliosis, Hyperlordosis |
ORPHA:262 |
| Three M Syndrome 1 |
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Hyperlordosis, Increased vertebral height, Neonatal respiratory distress, Spina bifida occulta, S... |
OMIM:273750 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Scoliosis, Irregularity of vertebral bodies, Hyperlordosis, Platyspondyly, Beaking of vertebral b... |
ORPHA:1159 |
| Acute Intermittent Porphyria |
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Tremor, Depression, Hyponatremia, Anxiety, Memory impairment, Mental deterioration |
ORPHA:79276 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
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Hyponatremia |
ORPHA:91354 |
| Snakebite Envenomation |
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Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
| Menkes Disease |
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Wormian bones, Intracranial hemorrhage, Intrauterine growth retardation, Brachycephaly, Metaphyse... |
OMIM:309400 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
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Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... |
OMIM:610913 |
| Colchicine Poisoning |
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Hypophosphatemia, Hypocalcemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hyp... |
ORPHA:31824 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
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