| Episodic Ataxia, Type 7 |
|
Muscle weakness, Episodic ataxia |
OMIM:611907 |
| Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia, Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... |
ORPHA:280397 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Progressive proximal muscle weakness, Limb-girdle muscle weakness, Foot dorsiflexor weakness, Ank... |
ORPHA:98912 |
| Distal Anoctaminopathy |
|
Progressive muscle weakness, Proximal muscle weakness in upper limbs, Distal lower limb muscle we... |
ORPHA:399096 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, Progressive proximal muscle weakness, Limb-girdle muscle weakness, Foot dorsifle... |
ORPHA:399058 |
| Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Limb muscle weakness, Progressive distal muscle weakness |
ORPHA:641 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Distal Myopathy With Anterior Tibial Onset |
|
Limb-girdle muscle weakness, Tibialis muscle weakness, Progressive proximal muscle weakness |
ORPHA:178400 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Scoliosis, Respiratory insufficiency due to muscle weakne... |
OMIM:611067 |
| Desminopathy |
|
Neck flexor weakness, Progressive muscle weakness, Axial muscle weakness, Fatigable weakness of b... |
ORPHA:98909 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... |
OMIM:600561 |
| Myopathy, Myofibrillar, 4 |
|
Progressive muscle weakness, Progressive distal muscle weakness, Progressive proximal muscle weak... |
OMIM:609452 |
| Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Paucity of anterior horn motor neurons, Short neck, Scoliosis, Neonatal death, Abnormal... |
OMIM:611890 |
| Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Cognitive impairment, Depression, Anxiety, Memory impairment, Hyponatremia, Dystonia |
ORPHA:163921 |
| Myopathy And Diabetes Mellitus |
|
Progressive cerebellar ataxia, Progressive proximal muscle weakness, Impaired vibratory sensation... |
ORPHA:2596 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Laing Early-Onset Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Distal muscle weakness, Weakness of orbicularis oculi mu... |
ORPHA:59135 |
| Myopathy, Scapulohumeroperoneal |
|
Foot dorsiflexor weakness, Neck flexor weakness, Progressive muscle weakness, Wrist drop, Facial ... |
OMIM:616852 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Distal sensory impairment, Progressive proximal muscle weakness |
ORPHA:399086 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Axial muscle weakness, Progressive external ophthalmoplegia, Respiratory insufficiency due to mus... |
ORPHA:663 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Arts Syndrome |
|
Progressive muscle weakness, Ataxia |
OMIM:301835 |
| Rigid Spine Syndrome |
|
Spinal rigidity, Respiratory insufficiency, Scoliosis, Hyperlordosis, Abnormality on pulmonary fu... |
ORPHA:97244 |
| Myosclerosis, Autosomal Recessive |
|
Thoracolumbar scoliosis, Lumbar hyperlordosis, Spinal rigidity, Reduced forced vital capacity |
OMIM:255600 |
| Distal Nebulin Myopathy |
|
Progressive distal muscle weakness, Neck flexor weakness, Foot dorsiflexor weakness, Progressive ... |
ORPHA:399103 |
| Oculopharyngodistal Myopathy |
|
Distal upper limb muscle weakness, Progressive proximal muscle weakness, Progressive external oph... |
ORPHA:98897 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis, Respiratory insufficiency due to... |
OMIM:300718 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... |
ORPHA:40 |
| Amish Nemaline Myopathy |
|
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness |
ORPHA:98902 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Scoliosis, Abnormal lower motor neuron morphology, Tremor, Recurrent aspiration pneumonia, Respir... |
ORPHA:2590 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Apathy, Abnormal fear/anxiety-related behavior, Depression, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Irritability |
OMIM:125800 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Irritability |
OMIM:616657 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Irritability |
OMIM:304800 |
| Distal Myotilinopathy |
|
Progressive distal muscle weakness, Progressive proximal muscle weakness |
ORPHA:98911 |
| Duchenne Muscular Dystrophy |
|
Progressive muscle weakness, Proximal muscle weakness |
ORPHA:98896 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking, Attention defic... |
OMIM:619191 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Respiratory insufficiency, Scoliosis, Spinal rigidity, Hyperlordosis |
OMIM:617404 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Ataxia, Hyponatremia, Neutropenia |
OMIM:616949 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Oculogyric crisis, Anxiety, Elevated circulating crea... |
ORPHA:94093 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Sensory ataxia, Progressive external ophthalmoplegia, Progressive muscle weakness, Limb muscle we... |
OMIM:609286 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Reduced vital capacity, Hyperlordosis |
OMIM:617760 |
| Spinocerebellar Ataxia 14 |
|
Progressive cerebellar ataxia, Dysmetria, Depression, Mental deterioration, Memory impairment, Ga... |
OMIM:605361 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
| Pyruvate Carboxylase Deficiency |
|
Apathy, Hyperlysinemia, Ataxia, Tip-toe gait, Hyperammonemia, Increased serum pyruvate, Hyperprol... |
ORPHA:3008 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Reduced vital capacity, Hyperlordosis |
OMIM:607088 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Hypoplasia of the pons, Death in infancy, Hypoplasia of the brainstem |
OMIM:225753 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Mental deterioration, Hypertriglyceridemia, Tremor, Dystonia |
OMIM:615924 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Progressive proximal muscle weakness, Distal muscle weakness, Ophthalmoparesis, Progressive exter... |
ORPHA:254875 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness |
OMIM:619024 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Death in childhood, Respiratory failure |
OMIM:253300 |
| Dystonia With Ringbinden |
|
Dystonia, Hyperlordosis |
OMIM:224550 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
| Myopathy, Congenital, With Tremor |
|
Lumbar hyperlordosis, Spinal rigidity, Tongue tremor, Scoliosis, Postural tremor |
OMIM:618524 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Respiratory insufficiency, Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
| Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Hyperglycinemia, Aggressive behavior, Irritability |
OMIM:605899 |
| Masa Syndrome |
|
Kyphosis, Agenesis of corpus callosum, Hyperlordosis |
OMIM:303350 |
| Amyotrophic Lateral Sclerosis 8 |
|
Progressive muscle weakness, Distal muscle weakness, Proximal muscle weakness |
OMIM:608627 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Hyperactivity, Tremor, Transient hyperphenylalaninemia, Choreoathetosis, Aggressive behav... |
OMIM:612716 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Thoracic kyphosis,... |
OMIM:609223 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Tremor, Dyspnea,... |
ORPHA:90117 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis, Dystonia |
OMIM:619966 |
| Infantile Refsum Disease |
|
Progressive muscle weakness, Facial palsy, Ataxia |
ORPHA:772 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Atrophy/Degeneration affecting the brainstem, Death in infancy, Respiratory failure, Dystonia |
OMIM:616277 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Progressive proximal muscle weakness, Pelvic girdle muscle weakness, Limb muscle weakness, Proxim... |
OMIM:167320 |
| Marinesco-Sjogren Syndrome |
|
Progressive muscle weakness, Ataxia, Gait ataxia, Limb ataxia |
OMIM:248800 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine, Irritability |
OMIM:300539 |
| Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness |
OMIM:300076 |
| Achondroplasia |
|
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... |
OMIM:100800 |
| Myasthenic Syndrome, Congenital, 5 |
|
Respiratory insufficiency, Scoliosis, Respiratory insufficiency due to muscle weakness, Hyperlord... |
OMIM:603034 |
| Central Diabetes Insipidus |
|
Depression, Anxiety, Hyponatremia |
ORPHA:178029 |
| Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Respiratory insufficienc... |
OMIM:256050 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Gowers sign, Progressive proximal muscle weakness, Limb-girdle muscle weakness, Pelvic girdle mus... |
ORPHA:254361 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Progressive muscle weakness, Ataxia, Muscle weakness |
OMIM:615919 |
| Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Maternal hyperphenylalaninemia, Hyperphenyla... |
OMIM:261600 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... |
ORPHA:266 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Depression, Anxiety, Hyponatremia, Thrombocytopenia |
ORPHA:83601 |
| Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Gowers sign, Ophthalmoparesis, Progressive muscle weakness, Facial palsy, Ophtha... |
ORPHA:169186 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormal pons morphology, Respiratory insufficiency, Scoliosis, Neuropathic spinal arthropathy, D... |
ORPHA:370968 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Respiratory insufficiency, Platyspondyly, Thoracolumbar scoliosis, Respiratory failure |
OMIM:313420 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Increased LDL cholesterol ... |
OMIM:267700 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Respiratory insufficiency, Death in infancy, Hyperlordosis |
ORPHA:157973 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, ... |
ORPHA:3077 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:604317 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Progressive muscle weakness |
OMIM:252320 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachydactyly, Metacarpal synostosis, Hearing impairment, Brachycephaly, Midface retrusion |
ORPHA:35099 |
| Nemaline Myopathy 5 |
|
Progressive muscle weakness |
OMIM:605355 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior |
OMIM:619970 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Hyperlordosis |
OMIM:614198 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613435 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Progressive external ophthalmoplegia, Progressive muscle weakness, Impaired distal vibration sens... |
OMIM:157640 |
| Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Respiratory insufficiency, Abnormality of the vertebral column, Respiratory ... |
OMIM:276950 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Obstructive sleep apnea |
OMIM:615290 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Scoliosis, Restrictive ventilatory defect, Respi... |
OMIM:614399 |
| Congenital Bowing Of Long Bones |
|
Hyperlordosis |
ORPHA:2292 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Exertional dyspnea, Obstructive sleep apnea, Hyperlordosis |
ORPHA:352470 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Short neck, Respiratory failure |
ORPHA:1832 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Depression, Gait ataxia, ... |
ORPHA:248111 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis, Dystonia |
OMIM:616756 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure |
OMIM:616081 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Respiratory insufficiency, Dystonia, Abnormal brainstem MRI signal intensity |
ORPHA:263410 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Dysmetria, Gait disturbance, Tremor |
OMIM:618090 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Tremor, Hyperactivity, Aggressive behavior |
OMIM:619470 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Hyperlordosis |
OMIM:618129 |
| Nemaline Myopathy 3 |
|
Spinal rigidity, Respiratory insufficiency, Scoliosis, Hyperlordosis, Respiratory insufficiency d... |
OMIM:161800 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Spinal rigidity |
OMIM:604801 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:309548 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Tremor, Death in infancy, Respiratory failure, Dystonia |
OMIM:617248 |
| Diastrophic Dysplasia |
|
Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Spinal cord compression, Cervical kyphosis, Hypo... |
OMIM:222600 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:602484 |
| Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Apnea, Abnormal brainstem morphology |
ORPHA:99852 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Hyperactivity, Aggressive behavior |
OMIM:300983 |
| Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Frontal bossing, Plagiocephaly, Brachycephaly |
OMIM:300064 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior |
ORPHA:100973 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:408 |
| Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Broad phalanx, Brachycephaly, Trigonocephaly, Broad metatarsal |
OMIM:275595 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scoliosis, Hyperlordosis |
OMIM:616228 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior, Dystonia |
ORPHA:382 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Mental deterioration, Falls, Aggressive behavior, Personality disorder |
ORPHA:2382 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Ataxia, Impulsivity, Hyperactivity |
OMIM:617113 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Respiratory failure |
OMIM:618637 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Truncal ataxia, Chorea, Progressive proximal muscle weakness |
ORPHA:369847 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Kyphoscoliosis, Scoliosis, Hyperlordosis, Abnormal vertebral morph... |
OMIM:618363 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
| Landau-Kleffner Syndrome |
|
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... |
ORPHA:98818 |
| Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
| Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Lumbar hyperlordosis |
OMIM:253320 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Nemaline Myopathy 7 |
|
Kyphoscoliosis, Lumbar hyperlordosis, Respiratory insufficiency due to muscle weakness |
OMIM:610687 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Ataxia, Hypoproteinemia, Hemophagocytosis, Splenome... |
OMIM:603553 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Ataxia, Hyponatremia |
OMIM:618426 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hypochondroplasia |
|
Spinal canal stenosis, Sleep apnea, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Progressive muscle weakness |
OMIM:600462 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis |
ORPHA:280333 |
| Bethlem Myopathy |
|
Gowers sign, Progressive proximal muscle weakness, Distal muscle weakness, Quadriceps muscle weak... |
ORPHA:610 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Kyphosis, Spinal rigidity, Short neck, Scoliosis, Respiratory failure |
ORPHA:75840 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Hyperekplexia 4 |
|
Kyphoscoliosis, Respiratory failure |
OMIM:618011 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Neonatal respiratory distress, Respiratory failure, Agenesis of corpu... |
ORPHA:168486 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Cognitive impairment, Hemolytic anemia, Microcytic anemia, Ane... |
ORPHA:846 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... |
ORPHA:848 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613954 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Nemaline Myopathy 2 |
|
Apnea, Spinal rigidity, Scoliosis, Hyperlordosis, Respiratory insufficiency due to muscle weakness |
OMIM:256030 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis |
ORPHA:363454 |
| Hypochondroplasia |
|
Lumbar hyperlordosis |
OMIM:146000 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Progressive muscle weakness, Facial palsy, Limb muscle weakness, Progressive external ophthalmopl... |
OMIM:610131 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Flat occiput, Plagiocephaly, Brachycephaly, Bradycardia |
ORPHA:2898 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Coffin-Siris Syndrome 8 |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:618362 |
| Metatropic Dysplasia |
|
Kyphosis, Kyphoscoliosis, Relatively short spine, Respiratory insufficiency, Platyspondyly, Scoli... |
OMIM:156530 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Hyperactivity, Self-biting |
OMIM:618314 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Elevated circulating gamma-aminobutyric ... |
OMIM:271980 |
| Chromosome 3Q29 Deletion Syndrome |
|
Anxiety, Hyperactivity, Aggressive behavior, Gait ataxia |
OMIM:609425 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia |
OMIM:613845 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:228940 |
| Mucolipidosis Type Iii |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:577 |
| Dk1-Cdg |
|
Progressive muscle weakness |
ORPHA:91131 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Kyphosis, Blepharospasm, Scoliosis, Hyperlordosis, Tremor, W... |
OMIM:128100 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Weakness of muscles of respiration, Abnormal motor neuron morpholo... |
ORPHA:52430 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Vertebral fusion |
OMIM:606612 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Memory impairment, Self-biting, N... |
OMIM:619827 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Progressive muscle weakness, Ataxia |
OMIM:607426 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Hyperlordosis |
ORPHA:62 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Hyperactivity, Self-injurious behavior, Tremor, Paroxysmal bursts of laughter |
OMIM:618718 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Kyphosis, Spinal rigidity, Neuropathic spinal arthropathy, Dyspnea, Respiratory failure, Respirat... |
ORPHA:352447 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Hearing impairment, Brachycephaly, Thickened calvaria, Craniosynostosis |
ORPHA:178377 |
| Leigh Syndrome |
|
Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Abnormal pattern of respirat... |
OMIM:256000 |
| Anauxetic Dysplasia 2 |
|
Short neck, Cervical spine instability, Thoracolumbar kyphoscoliosis, Hyperlordosis, Ovoid verteb... |
OMIM:617396 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Myopathy, Congenital, With Fiber-Type Disproportion |
|
Lumbar hyperlordosis, Respiratory insufficiency, Scoliosis, Reduced forced vital capacity, Respir... |
OMIM:255310 |
| Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:614299 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Scoliosis, Spina bifida occulta, Hyperlordosis, Abnorm... |
ORPHA:1797 |
| Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Scoliosis, Hyperlordos... |
OMIM:253000 |
| Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Anxiety, Falls, Difficulty walking, Emotional lability |
ORPHA:3198 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Increased vertebral height, Kyphoscoliosis, Hyperlordosis, Kinetic tremor, Abnormal vertebral mor... |
OMIM:616817 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| 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 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Death in childhood, Neonatal death, Death in infancy, Neonatal respira... |
OMIM:245400 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Scoliosis, Abnormality of the anterior commissure, Midline brainstem clef... |
OMIM:617542 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Scoliosis, Thoracic kyphoscoliosis, Orthopnea, Restrictive ventilatory de... |
ORPHA:98913 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Kyphosis, Respiratory insufficiency, Scoliosis, Hyperlordosis, Stridor |
OMIM:181405 |
| Spinocerebellar Ataxia Type 1 |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Postural tremor, Res... |
ORPHA:98755 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, Hyponatremia, ... |
ORPHA:682 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Neuromyelitis Optica Spectrum Disorder |
|
Myelitis, Respiratory failure |
ORPHA:71211 |
| Cln5 Disease |
|
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, An... |
ORPHA:228360 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Progressive muscle weakness |
OMIM:619518 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Wheezing... |
ORPHA:2302 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Thoracic kyphosis, Lumbar hyperlordosis |
ORPHA:206546 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Respiratory failure, Neonatal death, Death in infancy |
OMIM:619334 |
| Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Respiratory insufficiency due to muscle weakness, Hyperlordosis |
OMIM:255200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Respiratory insufficiency, Scoliosis, Hyperlordosis |
OMIM:613156 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Scoliosis, Reduced forced vital capacity, Hyperlordosis, Restrictive ventilatory defect... |
OMIM:607155 |
| Cebalid Syndrome |
|
Plagiocephaly, Abnormal pinna morphology, Platystencephaly, Dolichocephaly, Hearing impairment, P... |
OMIM:618774 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Spinal rigidity |
OMIM:609308 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... |
ORPHA:167 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Degeneration of anterior horn cells, Tachypnea, Inspiratory stridor, Ventilator dependence with i... |
OMIM:604320 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Short neck, Hyperlordosis, Fused cervical vertebrae, Spinal cord compression |
ORPHA:2522 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Abnormal respiratory system physiology, Resp... |
ORPHA:803 |
| Acrocapitofemoral Dysplasia |
|
Scoliosis, Ovoid vertebral bodies, Hyperlordosis |
ORPHA:63446 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis, Brachycephaly, Occipital... |
OMIM:614416 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Scoliosis, Cough, Dyspnea |
ORPHA:86812 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Scoliosis, Sacral dimple, Hyperlordosis |
OMIM:615761 |
| Muscular Dystrophy, Duchenne Type |
|
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Hypoventilation, Respiratory failure, R... |
OMIM:310200 |
| Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Intention tremor, Abnormal motor neuron morphology, Head tremor |
OMIM:613724 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder |
OMIM:619927 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumbar hyperlo... |
ORPHA:99642 |
| Wieacker-Wolff Syndrome |
|
Kyphosis, Apnea, Short neck, Scoliosis, Hyperlordosis, Neonatal respiratory distress, Dystonia |
OMIM:314580 |
| Joubert Syndrome 7 |
|
Episodic tachypnea, Scoliosis, Tachypnea, Central apnea, Neonatal breathing dysregulation, Molar ... |
OMIM:611560 |
| Craniosynostosis 2 |
|
Craniosynostosis, Brachyturricephaly, Brachydactyly, Frontal bossing, Triphalangeal thumb, Bicoro... |
OMIM:604757 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Myelitis, Tachypnea, Cough, Pneumothorax,... |
ORPHA:454836 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Poor head control, Weakness of muscles of respiration, Pelvic girdle muscle weakness, Foot dorsif... |
ORPHA:2020 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... |
ORPHA:90038 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... |
OMIM:264180 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Depression, Hyperactivity, Impulsivity, Dystonia |
ORPHA:88616 |
| Alg8-Cdg |
|
Anemia, Ataxia, Thrombocytopenia, Hyponatremia |
ORPHA:79325 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Thoracolumbar scoliosis, Lumbar hyperlordosis |
OMIM:610313 |
| Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Brachycephaly, Microtia, Craniosynostosis, Micromelia, Brachydacty... |
ORPHA:2145 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Cough, Tachypnea |
OMIM:263000 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... |
OMIM:608647 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Difficulty walking, Hy... |
ORPHA:1667 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Spinal rigidity, Hyperlordosis |
ORPHA:267 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hyperlordosis |
ORPHA:1192 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Distal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Limb muscle weaknes... |
OMIM:118210 |
| Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:160500 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... |
OMIM:265120 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Platyspondyly, Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Cervical subluxation, ... |
OMIM:253010 |
| Jansen-De Vries Syndrome |
|
Hyperlordosis |
OMIM:617450 |
| Humeroradial Synostosis With Craniofacial Anomalies |
|
Carpal synostosis, Plagiocephaly, Microtia, Small earlobe, Frontal bossing, Tarsal synostosis, Hu... |
OMIM:236410 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter |
ORPHA:411515 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Obstructive sleep apnea, Central sleep apnea, Generalized dystonia |
ORPHA:70472 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... |
ORPHA:309246 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia |
ORPHA:1930 |
| Mucolipidosis Iii Gamma |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
OMIM:252605 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hyperlordosis |
OMIM:611588 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Scoliosis, Respiratory failure, Small cervical vertebral bodies, Progr... |
OMIM:135100 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anemia, Anxiety, Hyponatremia |
ORPHA:79473 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... |
OMIM:610921 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, C... |
OMIM:184100 |
| Whipple Disease |
|
Ataxia, Splenomegaly, Depression, Hyponatremia, Anemia |
ORPHA:3452 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Aggressive behavior, Dystonia |
ORPHA:500180 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Agenesis of corpus callosum, Abnormal brainstem morphology |
ORPHA:255182 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior |
ORPHA:101039 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Hemivertebrae, Abnormal form of the vertebral bodies, Dyspnea, Respiratory ... |
ORPHA:2759 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation |
OMIM:615516 |
| Ck Syndrome |
|
Kyphoscoliosis, Lumbar hyperlordosis |
ORPHA:251383 |
| Oculocerebrodental Syndrome |
|
Thoracic kyphosis, Dysplastic corpus callosum, Scoliosis, Hyperlordosis |
ORPHA:557003 |
| Alg1-Cdg |
|
Kyphosis, Scoliosis, Respiratory failure |
ORPHA:79327 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia, Irritability |
ORPHA:173 |
| Typical Nemaline Myopathy |
|
Kyphosis, Spinal rigidity, Respiratory insufficiency, Short neck, Scoliosis, Hyperlordosis, Noctu... |
ORPHA:171436 |
| Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
| Muenke Syndrome |
|
Sensorineural hearing impairment, Plagiocephaly, Cone-shaped epiphyses of the phalanges of the ha... |
OMIM:602849 |
| Rasmussen Subacute Encephalitis |
|
Inability to walk, Hyperactivity, Hemidystonia, Cognitive impairment, Memory impairment, Attentio... |
ORPHA:1929 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Progressive muscle weakness, Limb-girdle muscle weakness, Muscle weakness |
ORPHA:370 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Emotional lability,... |
ORPHA:89938 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... |
ORPHA:31824 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairment, Hypertriglyce... |
ORPHA:363400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:615330 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Progressive cerebellar ataxia, Hyperactivity, Depression, Anxiety, Aggre... |
ORPHA:485350 |
| Snakebite Envenomation |
|
Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis |
OMIM:613818 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally oss... |
ORPHA:94068 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Progressive muscle weakness, Limb-girdle muscle weakness, Pelvic girdle muscle weakness |
ORPHA:79240 |
| Central Hypoventilation Syndrome, Congenital, 3 |
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Central hypoventilation, Apnea, Respiratory failure |
OMIM:619483 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Scoliosis, Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive sleep apnea |
OMIM:606071 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis, Hypoplasia of the pons, Abnormal brainstem morphology, Olivopontocerebellar... |
ORPHA:370959 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... |
OMIM:610913 |
| Acute Intermittent Porphyria |
|
Depression, Mental deterioration, Anxiety, Memory impairment, Tremor, Hyponatremia |
ORPHA:79276 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Scoliosis, Pneumonia, Hyperlordosis |
OMIM:253700 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Platyspondyly, Sh... |
OMIM:183900 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Scoliosis, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process |
OMIM:184250 |
| Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology |
ORPHA:1532 |
| Duchenne And Becker Muscular Dystrophy |
|
Scoliosis, Hyperlordosis |
ORPHA:262 |
| Three M Syndrome 1 |
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Increased vertebral height, Short neck, Spina bifida occulta, Hyperlordosis, Neonatal respiratory... |
OMIM:273750 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Intention tremor, Tremor, Scoliosis, Respiratory failure |
OMIM:616505 |
| Encephalopathy, Progressive, Early-Onset, Wit |
