| Charcot-Marie-Tooth Disease, Axonal, Type 2V |
|
Impaired vibratory sensation, Sensory ataxia, Distal sensory impairment, Paresthesia, Muscle weak... |
OMIM:616491 |
| Episodic Ataxia, Type 7 |
|
Episodic ataxia, Muscle weakness |
OMIM:611907 |
| Distal Myopathy With Anterior Tibial Onset |
|
Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive p... |
ORPHA:178400 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... |
ORPHA:98912 |
| Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment, Hyperlysinemia, Anemia |
OMIM:238700 |
| Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Progressive proximal muscle weakness, Distal lower limb ... |
ORPHA:399096 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Limb muscle weakness, Progressive distal muscle weakness |
ORPHA:641 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Progressive distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle... |
ORPHA:399058 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Scolios... |
OMIM:611067 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Desminopathy |
|
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... |
ORPHA:98909 |
| Myopathy, Myofibrillar, 4 |
|
Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak... |
OMIM:609452 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Respi... |
OMIM:600561 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Irritability, Polydipsia, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Irritability, Polydipsia, Hypernatremia |
OMIM:304800 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Death in adolescence, Respirat... |
OMIM:300717 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho... |
OMIM:611890 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Myopathy And Diabetes Mellitus |
|
Impaired vibratory sensation, Progressive proximal muscle weakness, Progressive cerebellar ataxia... |
ORPHA:2596 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Ataxia, Confusion, Depression, Cognitive impairment, Dystonia, Memory impairment |
ORPHA:163921 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Myopathy, Scapulohumeroperoneal |
|
Neck flexor weakness, Facial palsy, Progressive muscle weakness, Wrist drop, Foot dorsiflexor wea... |
OMIM:616852 |
| Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Laing Early-Onset Distal Myopathy |
|
Distal muscle weakness, Progressive muscle weakness, Proximal muscle weakness in lower limbs, Nec... |
ORPHA:59135 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced b... |
ORPHA:100924 |
| Arts Syndrome |
|
Progressive muscle weakness, Ataxia |
OMIM:301835 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Distal Nebulin Myopathy |
|
Progressive proximal muscle weakness, Neck flexor weakness, Progressive distal muscle weakness, F... |
ORPHA:399103 |
| Rigid Spine Syndrome |
|
Pneumonia, Hyperlordosis, Spinal rigidity, Abnormality on pulmonary function testing, Respiratory... |
ORPHA:97244 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hypo... |
ORPHA:94093 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive proximal muscle weakness, Progressive distal muscle weakness, Distal sensory impairment |
ORPHA:399086 |
| Oculopharyngodistal Myopathy |
|
Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal... |
ORPHA:98897 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea... |
OMIM:300718 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Myosclerosis, Autosomal Recessive |
|
Reduced forced vital capacity, Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity |
OMIM:255600 |
| Central Diabetes Insipidus |
|
Hyponatremia, Polydipsia, Anorexia, Depression |
ORPHA:178029 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Progressive muscle weakness, Gowers sign, Peroneal muscle weakness, Proximal muscle weakness |
OMIM:611588 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Amish Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Progressive muscle weakness |
ORPHA:98902 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Dystonia,... |
ORPHA:3008 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Amyotrophic Lateral Sclerosis 8 |
|
Progressive muscle weakness, Distal muscle weakness, Proximal muscle weakness |
OMIM:608627 |
| Distal Myotilinopathy |
|
Progressive proximal muscle weakness, Progressive distal muscle weakness |
ORPHA:98911 |
| Duchenne Muscular Dystrophy |
|
Progressive muscle weakness, Proximal muscle weakness |
ORPHA:98896 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia, Mental deterioration |
OMIM:615924 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Scoliosis |
OMIM:617404 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Tremor, Respiratory insufficiency due to muscle weakness,... |
ORPHA:2590 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia |
OMIM:605899 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Sens... |
OMIM:609286 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Ataxia, Neutropenia |
OMIM:616949 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Lumbar hyperlordosis, Respiratory insufficiency, Scoliosis |
OMIM:619042 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Progressive muscle weakness, Ataxia, Muscle weakness, Proximal muscle weakness |
OMIM:620166 |
| Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Reduced vital capacity, Hyperlordosis |
OMIM:607088 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness |
OMIM:619024 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Proximal muscle weakness, Progressive muscle weakness, Generalized muscle w... |
OMIM:620249 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Death in infancy, Respiratory failure, Hypoplasia of the brainstem |
OMIM:225753 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
| Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Postural tremor, Spinal rigidity, Tongue tremor, Scoliosis |
OMIM:618524 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Progressive muscle weakness, Gowers sign, Generalized muscle weakness, Lower limb muscle weakness |
OMIM:620285 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Respiratory insuffici... |
ORPHA:254875 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Hypernatremia, Anorexia |
ORPHA:223 |
| Masa Syndrome |
|
Kyphosis, Agenesis of corpus callosum, Hyperlordosis |
OMIM:303350 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia |
OMIM:620270 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis, Dystonia |
OMIM:619966 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Dystonia, Apnea, Respiratory failure, Atrophy/Degeneration affecting the brainstem |
OMIM:616277 |
| Infantile Refsum Disease |
|
Progressive muscle weakness, Ataxia, Facial palsy |
ORPHA:772 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Respiratory insufficiency due to muscle weakness, Progressive external ophthalmoplegia, Progressi... |
ORPHA:663 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms |
OMIM:239500 |
| Marinesco-Sjogren Syndrome |
|
Progressive muscle weakness, Ataxia, Limb ataxia, Gait ataxia |
OMIM:248800 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
| Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness |
OMIM:300076 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Facial palsy, Proximal muscle weakness, Progressive proximal muscle weakness, Shoulder girdle mus... |
OMIM:167320 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... |
OMIM:612716 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Respiratory failure, Aspirat... |
ORPHA:90117 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
| Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis, Craniofacial dystonia, Dystonia |
OMIM:617054 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial palsy, Progressive muscle weakness, Gowers sign, Ophthalmoplegia, Ophthalmoparesis, Facial... |
ORPHA:169186 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... |
OMIM:300539 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Respiratory insufficiency, Respiratory failure, Abnormal pons mor... |
ORPHA:370968 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Limb-girdle muscle weakness, Progressive proximal muscle weakness, Gowers sign, Generalized muscl... |
ORPHA:254361 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... |
OMIM:256050 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Progressive muscle weakness |
OMIM:605355 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Spinal rigidity, Respiratory insufficiency, Hyperlordosis |
ORPHA:157973 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Myasthenic Syndrome, Congenital, 5 |
|
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Scoliosis, Hyperlord... |
OMIM:603034 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613435 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Platyspondyly, Respiratory failure |
OMIM:313420 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Total ophthalmoplegia, Progressive external ophthalmoplegia, Neck flexor weakness, Facial palsy, ... |
OMIM:157640 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Hearing impairment, Brachycephaly, Metacarpal synostosis, Midface retrusion, Brachydactyly |
ORPHA:35099 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Respiratory insufficiency, Respiratory failure, Abnormality of the vertebral... |
OMIM:276950 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... |
OMIM:261600 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... |
OMIM:614399 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis, Dystonia |
OMIM:616756 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Short neck |
ORPHA:1832 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
| Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb... |
ORPHA:248111 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| Diastrophic Dysplasia |
|
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression, Scoliosis, Hypo... |
OMIM:222600 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Hyperlordosis, Respiratory ins... |
OMIM:161800 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:602484 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Respiratory insufficiency, Scoliosis, Hyperlordosis |
OMIM:620389 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Thrombocytopenia, Increased blood urea nitrogen, Leukopenia, Hyperuri... |
OMIM:613845 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Restrictive ventilatory defect, Scoliosis, Hyperlordosis |
OMIM:615290 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Abnormal brainstem MRI signal intensity, Respiratory insufficiency, Dystonia |
ORPHA:263410 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Spinal rigidity |
OMIM:604801 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:408 |
| Pontocerebellar Hypoplasia Type 1 |
|
Degeneration of anterior horn cells, Respiratory failure, Hypoplasia of the pons, Congenital lary... |
ORPHA:2254 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Exertional dyspnea, Hyperlordosis |
ORPHA:352470 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure |
OMIM:618637 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Progressive muscle weakness, Ataxia, Muscle weakness |
OMIM:615919 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Progressive proximal muscle weakness, Chorea, Truncal ataxia |
ORPHA:369847 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Hyperlordosis |
OMIM:614198 |
| Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Gait ataxia, M... |
ORPHA:98818 |
| Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Nemaline Myopathy 7 |
|
Respiratory insufficiency due to muscle weakness, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:610687 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... |
OMIM:603553 |
| Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:300983 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Respiratory failure, Scoliosis |
ORPHA:75840 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis |
ORPHA:280333 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa... |
OMIM:312170 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Distal muscle weakness, Limb-girdle muscle weakness, Gowers ... |
ORPHA:610 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Progressive muscle weakness, Gowers sign, Muscle weakness |
OMIM:600462 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
| Hyperekplexia 4 |
|
Respiratory failure, Kyphoscoliosis |
OMIM:618011 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Irritability, Abnormality... |
ORPHA:848 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly, Bradycardia |
ORPHA:2898 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613954 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis |
ORPHA:363454 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Confusion, Leukocytosis, Depression, Thrombocytopenia |
ORPHA:83601 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... |
ORPHA:846 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Respiratory failure, S... |
OMIM:606612 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Dk1-Cdg |
|
Progressive muscle weakness |
ORPHA:91131 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyphosis, Torsion dysto... |
OMIM:128100 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
| Mucolipidosis Type Iii |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:577 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Hyperlordosis, Abnormal motor neuron morphology, Abnormality of th... |
ORPHA:52430 |
| Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Snakebite Envenomation |
|
Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia, Thrombocytopenia |
ORPHA:449285 |
| Anauxetic Dysplasia 2 |
|
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Progressive muscle weakness, Ataxia |
OMIM:607426 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Proximal muscle weakness in lower limbs, Progressive proximal muscle weakness, Distal upper limb ... |
OMIM:620138 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Progressive muscle weakness, Limb muscle weakness, Facial palsy, Progressive external ophthalmopl... |
OMIM:610131 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Reduced forced vital capacity, Respiratory insufficiency due to muscle weak... |
OMIM:255310 |
| Ravine Syndrome |
|
Apnea, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Agenesis of corpus callosum, Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Hyperlordosis |
ORPHA:62 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... |
OMIM:615516 |
| Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Reduced vital capacity, Scoliosis, Hyperlordosis |
OMIM:617760 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Sacral dimple, Respiratory insufficiency due to muscle weakness, Kyphosis, Respira... |
OMIM:618291 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Progressive muscle weakness |
OMIM:619518 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Leigh Syndrome |
|
Respiratory insufficiency, Respiratory failure, Dystonia, Focal substantia nigra T2 hyperintensit... |
OMIM:256000 |
| Hypochondroplasia |
|
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Kinetic tremor, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Hypoplasia of the brai... |
OMIM:616817 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... |
ORPHA:1797 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Myopathy, Centronuclear, 2 |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Gait... |
ORPHA:682 |
| Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
| Nemaline Myopathy 2 |
|
Apnea, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Hyperlordosis, Scoliosis |
OMIM:256030 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis |
OMIM:181405 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hypoplasia of the pons, Midline brainstem cleft, Scoliosi... |
OMIM:617542 |
| Whipple Disease |
|
Hyponatremia, Ataxia, Anorexia, Splenomegaly, Depression, Polydipsia, Anemia |
ORPHA:3452 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Respi... |
ORPHA:98913 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Dyspnea, Exertional dyspnea, Hyperlordosis |
OMIM:615156 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Spinocerebellar Ataxia Type 1 |
|
Dystonia, Postural tremor, Abnormal brainstem morphology, Respiratory failure, Atrophy/Degenerati... |
ORPHA:98755 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Myelitis |
ORPHA:71211 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Scoliosis, Cough |
ORPHA:86812 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Restrictive ventilatory... |
OMIM:607155 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... |
ORPHA:352447 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol... |
ORPHA:803 |
| Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
| Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis |
ORPHA:206546 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae |
ORPHA:2522 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Cebalid Syndrome |
|
Turricephaly, Posteriorly rotated ears, Abnormal pinna morphology, Platystencephaly, Brachycephal... |
OMIM:618774 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Tachypnea, Degeneration of anterior horn cells, Respiratory failure, Inspiratory stridor, Ventila... |
OMIM:604320 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Spinal rigidity |
OMIM:620326 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Respiratory insufficiency, Scoliosis, Hyperlordosis |
OMIM:613156 |
| Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Dystonia |
OMIM:314580 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... |
OMIM:614416 |
| Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Confusion, Tremor, Depression, Pseudobulbar paralysis, Mental deterio... |
ORPHA:79276 |
| Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... |
ORPHA:228360 |
| Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... |
ORPHA:99642 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors |
OMIM:619467 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hyperlordosis |
ORPHA:1192 |
| Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Ataxia, Anemia |
ORPHA:79325 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Poor head control, Respiratory insufficiency due to muscle weakness, Progressive muscle weakness,... |
ORPHA:2020 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia |
OMIM:602522 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia |
ORPHA:79273 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T... |
OMIM:264180 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Distal muscle weakness, Facial palsy, Distal sensory impairment, Limb muscle weakness, Foot dorsi... |
OMIM:118210 |
| Joubert Syndrome 7 |
|
Central apnea, Episodic tachypnea, Brainstem dysplasia, Tachypnea, Hypoplasia of the brainstem, S... |
OMIM:611560 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Elevated circulating gamma-a... |
OMIM:271980 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis |
OMIM:618363 |
| Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven... |
OMIM:310200 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis... |
ORPHA:1667 |
| Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:160500 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Spinal rigidity, Hyperlordosis |
ORPHA:267 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Spinal rigidity |
OMIM:609308 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Split hand, Brachycephaly, Abnorma... |
ORPHA:2145 |
| Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... |
ORPHA:247585 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Hyperlordosis |
OMIM:618129 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Infant Botulism |
|
Hyponatremia, Anorexia, Dysphagia |
ORPHA:178478 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Anorexia, Eosinophilia, Hyperk... |
ORPHA:199299 |
| Alg1-Cdg |
|
Kyphosis, Respiratory failure, Scoliosis |
ORPHA:79327 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Progressive psychomotor deterioration, Gait ... |
ORPHA:363400 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Agenesis of corpus callosum, Abnormal brainstem morphology |
ORPHA:255182 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal brainstem... |
ORPHA:370959 |
| Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Thoracic kyphosis, Scoliosis, Hyperlordosis |
ORPHA:557003 |
| Ck Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:251383 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Opisthotonus, Respiratory failure, Neonatal death, P... |
OMIM:605711 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
| Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Respiratory insufficiency, Scoliosis, Noctu... |
ORPHA:171436 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Pain insensitivity, Distal muscle weakness, Ataxia, Progressive muscle weakness, Distal sensory i... |
OMIM:256810 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Legionnaires Disease |
|
Hyponatremia, Ataxia, Anorexia, Splenomegaly, Lymphopenia |
ORPHA:549 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory ... |
ORPHA:2759 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Abnormal brain... |
ORPHA:300573 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Progressive muscle weakness, Limb-girdle muscle weakness, Pelvic girdle muscle weakness |
ORPHA:79240 |
| Muenke Syndrome |
|
Brachydactyly, Broad hallux, Capitate-hamate fusion, Sensorineural hearing impairment, Clinodacty... |
OMIM:602849 |
| Cholera |
|
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency, Dystonia |
OMIM:618186 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tremor, Respiratory failure, Scoliosis, Intention tremor |
OMIM:616505 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scoliosis, Hyperlordosis |
OMIM:616228 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis |
OMIM:613818 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
| Myotonia Permanens |
|
Dyspnea, Asthma, Hyperlordosis |
ORPHA:99735 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Emot... |
ORPHA:89938 |
| Craniosynostosis 6 |
|
Turricephaly, Craniosynostosis, Parietal foramina, Sensorineural hearing impairment, Brachycephal... |
OMIM:616602 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia, Scoliosis, Hyperlordosis |
OMIM:253700 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the... |
OMIM:183900 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Upper airway obstruction, Platyspondyly, Squared-off platyspondyly, Sc... |
ORPHA:93352 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Tremor, Myelopathy, Cervical myelopathy, Bradypnea, Respiratory failure, Death in ch... |
OMIM:617186 |
| Three M Syndrome 1 |
|
Neonatal respiratory distress, Hyperlordosis, Short neck, Increased vertebral height, Spina bifid... |
OMIM:273750 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Atrophy/Degeneration affecting the brainstem, Death in childhood |
OMIM:615838 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Generalized dystonia |
ORPHA:70472 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:1387 |
| Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
| Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology |
ORPHA:1532 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Scoliosis, Hyperlordosis |
OMIM:617352 |
| Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Pill-rolling tremor,... |
ORPHA:79139 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:536516 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Respiratory insuffi... |
OMIM:135100 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency due to muscle weakness, Progressive muscle weakness, Muscle weakness |
OMIM:615512 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation |
OMIM:184250 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Platyspondyly, Respiratory f... |
OMIM:616482 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Dyspnea, Lumbar hyperlordosis |
ORPHA:435387 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
| Mirage Syndrome |
|
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia |
OMIM:617053 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2511 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Salt craving, Hypercalcemia, Anorexia, Hyperkalemia, Increased c... |
ORPHA:95409 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Opisthotonus |
OMIM:610678 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Hand tremor, Lumbar kyphosis in in... |
ORPHA:3041 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Frontal bossing, Craniosynostosis, Brachycephaly, Low-set ears, Macrotia |
ORPHA:314575 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Inability to walk, Splenomegaly, Hypokalemia, Hypocalcemia, Dysphagia |
OMIM:617913 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... |
ORPHA:1159 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Progressive proximal muscle weakness, Muscle weakness |
ORPHA:368 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Widening of cervical spinal canal, Neonatal death |
OMIM:253310 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck |
ORPHA:1803 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Respiratory insufficiency due to... |
ORPHA:98863 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cervical mye... |
OMIM:253010 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis |
OMIM:619542 |
| Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Abnormal brainstem MRI signal intensity |
ORPHA:444013 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Neonatal respiratory distress, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Butterfly verte... |
OMIM:618870 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:619451 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis |
ORPHA:970 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Hyperlordosis, Abnormal brainstem MRI signal intensity, Respiratory insufficienc... |
ORPHA:258 |
| Myopathy, Centronuclear, 1 |
|
Hyperlordosis |
OMIM:160150 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
| Shigellosis |
|
Hyponatremia, Anorexia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolyti... |
ORPHA:810 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hyperammonemia,... |
OMIM:610505 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis |
OMIM:162370 |
| Desbuquois Dysplasia 1 |
|
Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:251450 |
| Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Dystonia, Ataxia, Impulsivity, Un... |
ORPHA:35069 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Opisthotonus, Death in childhood, Respiratory failure, Lateral ventricle dilatation, Limb dystonia |
OMIM:619847 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis |
OMIM:165800 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weak... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weak... |
ORPHA:98853 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Braddock-Carey Syndrome 1 |
|
Agenesis of corpus callosum, Hyperlordosis |
OMIM:619980 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Scoliosis, Intercostal muscle weakness |
OMIM:606071 |
| Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
| Panhypophysitis |
|
Hyponatremia, Polydipsia, Normochromic anemia |
ORPHA:95513 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Anemia |
ORPHA:97362 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... |
OMIM:617101 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death |
OMIM:614922 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... |
OMIM:609616 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
| Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
| Alexander Disease |
|
Hyperlordosis, Tremor, Kyphosis, Short neck, Aqueductal stenosis, Respiratory insufficiency, Scol... |
ORPHA:58 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Progressive muscle weakness |
ORPHA:264580 |
| Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Dural ectasia, Syring... |
ORPHA:2789 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocki... |
OMIM:617302 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Lumbar hyperlordosis, Upper airway obstruction, Lumbar ky... |
OMIM:100800 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Anorexia |
ORPHA:361 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
| Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia |
ORPHA:330021 |
| Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Dystonia, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:610217 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms |
ORPHA:391307 |
| Gm1 Gangliosidosis |
|
Generalized dystonia, Hyperlordosis, Tremor, Kyphosis, Abnormal form of the vertebral bodies, Pla... |
ORPHA:354 |
| Arthrogryposis, Distal, Type 4 |
|
Torticollis, 2-5 finger cutaneous syndactyly, Cranial asymmetry, Camptodactyly of 2nd-5th fingers... |
OMIM:609128 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia |
ORPHA:79473 |
| Humeroradial Synostosis |
|
Humeroradial synostosis, Small earlobe, Microtia, Brachycephaly |
OMIM:236400 |
| Addison Disease |
|
Hyponatremia, Normocytic anemia, Salt craving, Hypercalcemia, Anorexia, Thiamine-responsive megal... |
ORPHA:85138 |
| 20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia |
ORPHA:444051 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
| Tbck-Related Intellectual Disability Syndrome |
|
Progressive muscle weakness |
ORPHA:488632 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum |
OMIM:271650 |
| Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis |
OMIM:146000 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
| Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Progressive proximal muscle weakness, Shoulder girdle muscle weakness, Ataxia |
ORPHA:98907 |
| Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Dystonia, Self-mut... |
ORPHA:52503 |
| Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia, Limb dystonia |
ORPHA:621 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... |
ORPHA:98794 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou... |
ORPHA:449291 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
ORPHA:98855 |
| Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Hypoxemia, Restrictive ventilatory defect,... |
ORPHA:15 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... |
ORPHA:93284 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Anemia, Depression |
OMIM:184850 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft vertebrae, Pla... |
OMIM:255800 |
| Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
| Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... |
ORPHA:93314 |
| Jansen-De Vries Syndrome |
|
Hyperlordosis |
OMIM:617450 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase... |
ORPHA:845 |
| Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
ORPHA:275761 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hyperlordosis, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory fai... |
ORPHA:26791 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Dementia, Gait disturbance, Disinhibition, Attention deficit ... |
ORPHA:43 |
| Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
| Joubert Syndrome 37 |
|
Molar tooth sign on MRI, Lumbar hyperlordosis |
OMIM:619185 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Cer... |
OMIM:177170 |
| Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Confusion |
ORPHA:95613 |
| Three M Syndrome 3 |
|
Increased vertebral height, Hyperlordosis, Short neck |
OMIM:614205 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Depression, I... |
ORPHA:330015 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration tolerance, Abno... |
ORPHA:163681 |
| Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Triphalang... |
OMIM:604757 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... |
OMIM:602557 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Ab... |
ORPHA:760 |
| Anauxetic Dysplasia 1 |
|
Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Cervica... |
OMIM:607095 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Choreoathetosis... |
ORPHA:209905 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Head titubation, Elongated superior cerebellar peduncle, Abnormal brainstem morphology |
ORPHA:370022 |
| Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Dystonia, Respiratory insufficiency, Respiratory... |
OMIM:607625 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3218 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:353 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure |
ORPHA:1194 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Scoliosis, Hyperlordosis |
ORPHA:1323 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Restrictive ventilatory defect, Hyperlordosis |
ORPHA:369840 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis |
OMIM:156500 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Respiratory failure, Pneumonia, Scoliosis |
ORPHA:98905 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Dystonia, Ataxia, Akinesia, Acanthocytosis, Tremor, Phonic tics, Depression, Chore... |
OMIM:234200 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Abnormal brainstem morphology, Episodic tachypnea |
ORPHA:163961 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Ataxia, Confusion, Abnormal circulating fatty-acid concentra... |
ORPHA:139396 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Generalized dystonia, Dyst... |
OMIM:205100 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Respiratory failure, Vestibular areflexia, Dystonia |
ORPHA:3240 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:353327 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis |
OMIM:620296 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... |
OMIM:608836 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Hypomagnesemia, Sp... |
OMIM:219800 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Depression, Self-injurious behav... |
ORPHA:293987 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis |
OMIM:618443 |
| Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
| Sandestig-Stefanova Syndrome |
|
Respiratory failure, Short neck |
OMIM:618804 |
| Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... |
ORPHA:244 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response, Ataxia |
OMIM:616881 |
| Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis |
ORPHA:582 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea... |
OMIM:620278 |
| Leigh Syndrome |
|
Abnormal brainstem MRI signal intensity, Focal T2 hyperintense brainstem lesion, Choreoathetosis,... |
ORPHA:506 |
| 3M Syndrome |
|
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis |
ORPHA:2616 |
| Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver... |
OMIM:619698 |
| Adenohypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95512 |
| Neutral Lipid Storage Myopathy |
|
Progressive distal muscle weakness, Gowers sign, Progressive proximal muscle weakness, Shoulder g... |
ORPHA:98908 |
| Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Scoliosis |
OMIM:114300 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Depression, Hypophosphatemia, Self-injurious behavior, Hypokalemia, ... |
ORPHA:534 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Abnormal respiratory system physiology, Short neck |
ORPHA:171866 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Three M Syndrome 2 |
|
Hyperlordosis, Lumbar hyperlordosis, Short neck |
OMIM:612921 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Abnormal vertebral morphology, Abnormal midbrain morphology |
ORPHA:280195 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Bronchospasm, Short neck |
OMIM:612813 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Central hypoventilation |
ORPHA:171881 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
| Radio-Renal Syndrome |
|
Respiratory distress, Short neck, Dyspnea, Abnormal form of the vertebral bodies, Respiratory fai... |
ORPHA:3015 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Scoliosis, Hyperlordosis |
OMIM:300986 |
| Alg12-Cdg |
|
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:79324 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Respiratory failure |
OMIM:620327 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
| Familial Dysautonomia |
|
Hyponatremia, Ataxia, Gait disturbance |
ORPHA:1764 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Loss of ... |
ORPHA:2388 |
| Pycnodysostosis |
|
Hyperlordosis, Kyphosis, Stridor, Spondylolysis, Scoliosis, Spondylolisthesis |
ORPHA:763 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology |
ORPHA:174 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis |
OMIM:615980 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... |
ORPHA:1427 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Myopathy, Myofibrillar, 7 |
|
Lumbar hyperlordosis, Thoracic kyphosis, Scoliosis, Spinal rigidity |
OMIM:617114 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency due to muscle weakness, Gowers sign, Progressive proximal muscle weakne... |
ORPHA:365 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Spina bifida occulta |
OMIM:169550 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Irritability, Exaggerated startle response, Short attention span |
OMIM:617864 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... |
OMIM:606070 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies |
OMIM:608728 |
| Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Respiratory failure, Sco... |
ORPHA:496641 |
| Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Dyspnea, Platyspondyly, Thoracic kyphos... |
OMIM:242900 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
| Neurofaciodigitorenal Syndrome |
|
Abnormal distal phalanx morphology of finger, External ear malformation, Brachycephaly, Plagiocep... |
ORPHA:2673 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Intention tremor |
OMIM:215470 |
| Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Tethered cord, Kyphoscoliosis, Hype... |
ORPHA:573278 |
| Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait |
OMIM:207800 |
| Schwartz-Jampel Syndrome |
|
Death in infancy, Abnormally ossified vertebrae, Apnea, Short neck, Hyperlordosis, Kyphosis, Spin... |
ORPHA:800 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Tremor, Hypopnea, Respiratory failure, Dystonia, Neonatal death, Respira... |
OMIM:617248 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Choreoathetosis, Respiratory failure, Pneumothorax, Opisthotonus |
ORPHA:445038 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Reduced forced expiratory volume in one second, In... |
OMIM:613385 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Abnormal lymph... |
ORPHA:293978 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Apnea, Respiratory failure |
OMIM:617301 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Recurrent pneumonia, Coronal cleft vertebrae, Platyspondyly, Beaking of ver... |
OMIM:215150 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
| Smith-Mccort Dysplasia 2 |
|
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck |
OMIM:615222 |
| Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordosis, Short nec... |
ORPHA:175 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Spina bifida occulta, Scoliosis, Hyperlordosis |
ORPHA:2780 |
| Fucosidosis |
|
Cervical platyspondyly, Lumbar hyperlordosis, Dystonia, Ovoid vertebral bodies, Anterior beaking ... |
OMIM:230000 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hyperlordosis, Hypoplasia of the odontoid process, Spinal canal stenosis, Coronal cleft vertebrae... |
OMIM:616007 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
| Arthrogryposis, Distal, Type 5D |
|
Hyperlordosis, Scoliosis, Short neck |
OMIM:615065 |
| Pfeiffer Syndrome |
|
Hyperlordosis, Short neck |
ORPHA:710 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Achard Syndrome |
|
Broad skull, Arachnodactyly, Brachycephaly |
OMIM:100700 |
| Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Gangliocytoma |
|
Syringomyelia, Abnormal brainstem morphology, Spinal cord tumor, Scoliosis |
ORPHA:251937 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Increased intervertebral space, Irregular verteb... |
OMIM:607944 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoplasia of the pons, Respiratory failure |
ORPHA:88618 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... |
ORPHA:731 |
| Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis |
OMIM:216550 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis |
ORPHA:3068 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:467166 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
| Hallermann-Streiff Syndrome |
|
Spina bifida, Hyperlordosis, Recurrent pneumonia, Choreoathetosis, Scoliosis, Tracheomalacia, Pul... |
OMIM:234100 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Neonatal respiratory distress, Lumbar hyperlordosis |
OMIM:602471 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Scoliosis, Hyperlordosis |
ORPHA:77258 |
| Holoprosencephaly |
|
Hyponatremia, Abnormality of the spleen, Cognitive impairment, Dystonia |
ORPHA:2162 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Titubation |
ORPHA:280210 |
| Sheehan Syndrome |
|
Hyponatremia, Normochromic anemia |
ORPHA:91355 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... |
ORPHA:457395 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Hypoplastic anterior commissure, Enlarged te... |
OMIM:618325 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,... |
OMIM:272460 |
| 3Mc Syndrome |
|
Hyperlordosis, Prominent coccyx, Scoliosis, Spina bifida occulta, Caudal appendage |
ORPHA:293843 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Spinal rigidity, Recurrent pneumonia, Scoliosis, Hyperlordosis |
OMIM:613327 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormal pattern of respi... |
ORPHA:88619 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Abnormal pyramidal tract morphology, Abnormal brainstem MRI signal intensity |
ORPHA:83629 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Cranial asymmetry, Pulmonic stenosis, Hearing impairment |
ORPHA:137634 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Intention tremor, Neonatal respiratory distress, Recurrent aspiration pneumonia, Hyperlordosis |
ORPHA:221139 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia |
ORPHA:544482 |
| Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Pneumonia, Anterior wedging of L2, ... |
OMIM:253200 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Opisthotonus |
ORPHA:206436 |
| Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Pulmonary arterial hyper... |
ORPHA:1830 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis |
OMIM:226980 |
| Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:254854 |
| Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Prominent protruding coccyx, Abnormal form of the vertebral bodies, Spina b... |
ORPHA:2839 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hyperlordosis, Tremor, Athetosis, Scoliosis, Dystonia |
OMIM:615356 |
| Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Ataxia |
OMIM:618426 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Abnormal brainstem MRI signal intensity |
ORPHA:320365 |
| Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Desbuquois Dysplasia 2 |
|
Neonatal respiratory distress, Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:615777 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Short attention span, Elevated circulating alpha-fetoprotein concentration, Increas... |
OMIM:619991 |
| Duplication Of The Pituitary Gland |
|
Abnormality of the cervical spine, Thoracic scoliosis, Abnormal odontoid process morphology, Abno... |
ORPHA:314621 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
| Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
| Distal Deletion 10Q |
|
Lumbar hyperlordosis, Lateral ventricle dilatation, Spina bifida occulta |
ORPHA:96148 |
| Microphthalmia, Lenz Type |
|
Kyphosis, Scoliosis, Hyperlordosis |
ORPHA:568 |
| Saethre-Chotzen Syndrome |
|
Blepharospasm, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:794 |
| Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... |
OMIM:602875 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
| Trichorhinophalangeal Syndrome, Type I |
|
Scoliosis, Hyperlordosis |
OMIM:190350 |
| Listeriosis |
|
Back pain, Respiratory distress, Miscarriage, Pneumonia, Tremor, Abnormal brainstem MRI signal in... |
ORPHA:533 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
| Severe Congenital Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171430 |
| Satoyoshi Syndrome |
|
Hyperlordosis |
ORPHA:3130 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology |
ORPHA:79279 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persisten... |
OMIM:617052 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Platyspondyly, Thoracic kyphosis, Bi... |
OMIM:271510 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Myelitis |
ORPHA:2912 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Dural ectasia, Scoliosis, Tracheomalacia, S... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Dural ectasia, Scoliosis, Tracheomalacia, S... |
ORPHA:363958 |
| Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Hypoplasia of the brainstem, Elongated superior cerebellar p... |
OMIM:615636 |
| Adult Krabbe Disease |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal pyramidal tract mor... |
ORPHA:206448 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Scoliosis |
ORPHA:3342 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Lumbar hyperlordosis, Choreoathetosis, Scoliosis, Dystonia, Hyperventilation |
ORPHA:522077 |
| Martsolf Syndrome 1 |
|
Tracheomalacia, Thoracic scoliosis, Lumbar hyperlordosis |
OMIM:212720 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Lumbar hyperlordosis, Short neck, Lumbar kyphosis, Stridor, Thoracic kyphos... |
ORPHA:505248 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia, Confusion |
ORPHA:464453 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Lumbar hyperlordosis, Lumbar kyphosis |
OMIM:619234 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Short neck, Respiratory failure, Abnormal pons morphology, Lateral ventricle di... |
OMIM:300868 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte... |
OMIM:619636 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
| Slc35A2-Cdg |
|
Lateral ventricle dilatation, Abnormal midbrain morphology, Scoliosis, Atrophy/Degeneration affec... |
ORPHA:356961 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Hyperlordosis |
ORPHA:3253 |
| Chromosome 10Q26 Deletion Syndrome |
|
Lumbar hyperlordosis, Short neck |
OMIM:609625 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis |
ORPHA:2848 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
| Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Spina bifida, Scoliosis |
OMIM:161200 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Abnormal hemoglobin, Anemia, Depression |
ORPHA:847 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
| Sandhoff Disease |
|
Progressive psychomotor deterioration, Exaggerated startle response, Ataxia, Hepatosplenomegaly |
OMIM:268800 |
| Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
| Joubert Syndrome 2 |
|
Central apnea, Brainstem dysplasia, Episodic tachypnea, Thickened superior cerebellar peduncle, H... |
OMIM:608091 |
| Cartilage-Hair Hypoplasia |
|
Hypoplasia of the odontoid process, Lumbar hyperlordosis, Narrow vertebral interpedicular distanc... |
OMIM:250250 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Dystonia, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:618278 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... |
ORPHA:420741 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Arnold-Chiari Malformation Type I |
|
Myelopathy, Fused cervical vertebrae, Brain stem compression, Syringomyelia, Scoliosis, Cervical ... |
ORPHA:268882 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth |
OMIM:259720 |
| Lambert-Eaton Myasthenic Syndrome |
|
Progressive proximal muscle weakness |
ORPHA:43393 |
| Iniencephaly |
|
Spina bifida, Hyperlordosis, Absent vertebra, Spinal dysraphism, Syringomyelia |
ORPHA:63259 |
| Opitz-Kaveggia Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Partial agenesis of the corpus callosum, Short neck |
OMIM:305450 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lumbar hyperlordosis, Short neck |
ORPHA:251028 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Frontal bossing, Turricephaly, Flat occiput, Stapes ankylosis, Absent malleus, Sag... |
OMIM:614188 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Hyperlordosis |
OMIM:616078 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
| Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:424 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
| Shprintzen Omphalocele Syndrome |
|
Kyphosis, Neonatal respiratory distress, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:162300 |
| Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... |
ORPHA:340 |
| Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Spondylolysis, Scoliosis, Spondylolisthesis |
ORPHA:2614 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Spinal rigidity, Hyperlordosis |
ORPHA:268 |
| Frontorhiny |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:391474 |
| 47,Xyy Syndrome |
|
Asthma, Abnormal brainstem morphology |
ORPHA:8 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:3353 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:252010 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypoplasia of the pons, Lumbar hyperlordosis, Hypoplastic anterior commissure, Scoliosis |
OMIM:616975 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Sacral dimple, Short neck, Hyperlordosis, Scoliosis, Dystonia |
OMIM:619950 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal brainstem MRI signal intensity, Respiratory failure requiring assisted ventilation, Abno... |
ORPHA:83597 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Brachydactyly, Toe syndactyly, Absent first metatarsal, Partial duplic... |
OMIM:101400 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment, Dysphagia |
OMIM:617527 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
| Joubert Syndrome 1 |
|
Central apnea, Brainstem dysplasia, Episodic tachypnea, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:213300 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Respiratory insufficiency, Respiratory failure, Scoliosis, Cough, Emphysema |
OMIM:613658 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Abnormal brainstem morphology |
ORPHA:370997 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure |
ORPHA:679 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... |
OMIM:143095 |
| Myhre Syndrome |
|
Vertebral fusion, Short neck, Respiratory insufficiency, Enlarged vertebral pedicles, Platyspondy... |
OMIM:139210 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis |
OMIM:277600 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Kyphoscoliosis, Short neck, Hemivertebrae, Spinal dysraphism, Restrictive ventilator... |
ORPHA:96334 |
| Helsmoortel-Van Der Aa Syndrome |
|
Lateral ventricle dilatation, Scoliosis, Hyperlordosis |
OMIM:615873 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... |
ORPHA:79138 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Abnormal medulla oblongata morphology, Pneumonia, Abnormal midbrain morphology, Abnorm... |
ORPHA:68 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Abnormal repetitive mannerisms, HbH hemoglobin, Hypochromic m... |
OMIM:301040 |
| Alobar Holoprosencephaly |
|
Central apnea, Limb dystonia, Abnormal brainstem morphology, Aspiration pneumonia, Scoliosis, Age... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Limb dystonia, Abnormal brainstem morphology, Aspiration pneumonia, Scoliosis, Age... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Limb dystonia, Abnormal brainstem morphology, Aspiration pneumonia, Scoliosis, Age... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Central apnea, Limb dystonia, Abnormal brainstem morphology, Aspiration pneumonia, Scoliosis, Age... |
ORPHA:220386 |
| Lethal Acantholytic Erosive Disorder |
|
Respiratory failure |
ORPHA:158687 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
| Bloom Syndrome |
|
Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure |
ORPHA:125 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Vertebral compression fracture, Brain stem compression |
OMIM:602080 |
| Abetalipoproteinemia |
|
Respiratory failure, Kyphoscoliosis |
ORPHA:14 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Hyperlordosis |
ORPHA:261330 |
| Niemann-Pick Disease Type C |
|
Axial dystonia, Limb dystonia, Tremor, Respiratory insufficiency, Respiratory failure, Aspiration... |
ORPHA:646 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sacral dimple, Dyspnea, Respiratory failure, Agenesis of corpus callosum |
ORPHA:2556 |
| Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis |
ORPHA:1439 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:250420 |
| Ethylmalonic Encephalopathy |
|
Abnormal brainstem MRI signal intensity |
ORPHA:51188 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal brainstem MRI signal intensity, Thoracic scoliosis |
ORPHA:254930 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis |
OMIM:301066 |
| Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Kyphoscoliosis, Short neck, Respiratory insufficiency, Platyspondyly, Respiratory f... |
OMIM:304120 |
| Alkuraya-Kucinskas Syndrome |
|
Pleural effusion, Kinked brainstem, Hypoplasia of the brainstem |
OMIM:617822 |
| Fraser Syndrome 2 |
|
Respiratory failure, Short neck |
OMIM:617666 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Dysplastic corpus callosum, Hemivertebrae, Respiratory fail... |
ORPHA:500150 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
| Nijmegen Breakage Syndrome |
|
Respiratory failure, Recurrent pneumonia, Short neck |
ORPHA:647 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Camurati-Engelmann Disease |
|
Kyphosis, Abnormality of the vertebral column, Scoliosis, Hyperlordosis |
ORPHA:1328 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis |
OMIM:608328 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Williams Syndrome |
|
Death in early adulthood, Sacral dimple, Hyperlordosis, Tremor, Kyphosis, Atrophy/Degeneration in... |
ORPHA:904 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Short neck, Dyspnea, Abno... |
ORPHA:2636 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
| Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:607778 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Scaphocephaly, Cranial asymmetry |
OMIM:614886 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure |
ORPHA:79404 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal brainstem morphology, Kyphosis, Abnormality of the cervical spine, Scoliosis |
ORPHA:464311 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Short neck, Hypoplasia of the pons, Hypoplasia of the brainstem, Sc... |
ORPHA:444072 |
| Costello Syndrome |
|
Short neck, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia |
OMIM:218040 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Sacral dimple, Neonatal respiratory distress, Apnea, Thoracolumbar scoliosis, Hyperlordosis, Asth... |
OMIM:619503 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Tick-Borne Encephalitis |
|
Back pain, Abnormal medulla oblongata morphology, Abnormal brainstem MRI signal intensity, Tremor... |
ORPHA:297 |
| Multiple Endocrine Neoplasia Type 2 |
|
Kyphoscoliosis, Hyperlordosis |
ORPHA:653 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal brainstem morphology |
ORPHA:2720 |
| Steinert Myotonic Dystrophy |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... |
ORPHA:273 |
| Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis |
ORPHA:457359 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Lumbar hyperlordosis |
ORPHA:2232 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Abnormal finger morphology, Cranial asymmetry |
OMIM:163200 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
| Sponastrime Dysplasia |
|
Lumbar hyperlordosis, Kyphoscoliosis, Recurrent pneumonia, Hyperconvex vertebral body endplates, ... |
ORPHA:93357 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Kyphoscoliosis, Sinusitis, Scoliosis, Hyperlordosis |
ORPHA:363700 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Intention tremor |
ORPHA:93256 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Dystonia, Decreased serum iron, Inability to walk... |
ORPHA:438213 |
| Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis |
OMIM:618371 |
| Holoprosencephaly 7 |
|
Frontal bossing, Flat occiput, Macrotia, Cranial asymmetry, Occipital meningocele, Parietal bossi... |
OMIM:610828 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure |
ORPHA:805 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Kinked brainstem |
OMIM:236670 |
| Arima Syndrome |
|
Brainstem dysplasia, Dyspnea, Tachypnea, Hypoplasia of the brainstem, Molar tooth sign on MRI |
OMIM:243910 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Short neck, Pneumothorax, Ovoid thoracolumbar vertebrae, Respiratory failure |
ORPHA:3404 |
| Osteogenesis Imperfecta |
|
Neonatal respiratory distress, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnor... |
ORPHA:666 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hyperlordosis |
ORPHA:73223 |
| Branchiooculofacial Syndrome |
|
Hyperlordosis, Kyphosis, Short neck |
OMIM:113620 |
| Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Frontal bossing, Short humerus, Short femur, Posteriorly rotated ears, Thin long bone d... |
ORPHA:3455 |
| Meningioma |
|
Back pain, Brain stem compression, Abnormality on pulmonary function testing, Progressive pulmona... |
ORPHA:2495 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
| Full Nf2-Related Schwannomatosis |
|
Myelopathy, Spinal cord tumor, Brain stem compression |
ORPHA:637 |
| Microphthalmia, Syndromic 1 |
|
Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis |
OMIM:309800 |
| Neuroblastoma, Susceptibility To, 1 |
|
Spinal cord compression |
OMIM:256700 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Hypercalcemia |
ORPHA:29072 |
