Spinocerebellar Ataxia Type 4 |
|
Ataxia, Impaired vibratory sensation, Gait disturbance, Motor deterioration, Impaired propriocept... |
ORPHA:98765 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
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Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone, Increased circula... |
OMIM:188570 |
Dystonia 31 |
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Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... |
OMIM:619565 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Hemiplegia, Ataxia, Mental deterioration, Abnormality of extrapyramidal motor function, Abnormal ... |
OMIM:614561 |
Pendred Syndrome |
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Goiter, Compensated hypothyroidism, Thyroid carcinoma, Increased circulating thyroglobulin level |
OMIM:274600 |
Thyroid Dyshormonogenesis 3 |
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Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274700 |
Thyroid Cancer, Nonmedullary, 1 |
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Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma |
OMIM:188550 |
Corticobasal Syndrome |
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Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
Familial Papillary Or Follicular Thyroid Carcinoma |
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Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... |
ORPHA:319487 |
Huntington Disease-Like 1 |
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Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cognitive impairment, Slurred ... |
ORPHA:157941 |
X-Linked Spinocerebellar Ataxia Type 4 |
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Progressive cerebellar ataxia, Abnormal pyramidal sign, Memory impairment, Difficulty walking, Po... |
ORPHA:85292 |
Atypical Juvenile Parkinsonism |
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Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
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Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... |
ORPHA:97290 |
Thyroid Dyshormonogenesis 5 |
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Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
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Hypothyroidism, Goiter |
OMIM:274800 |
Thyroid Dyshormonogenesis 2A |
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Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
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Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Thyroid Cancer, Nonmedullary, 4 |
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Goiter, Non-medullary thyroid carcinoma |
OMIM:616534 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
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Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... |
OMIM:274300 |
Adult Neuronal Ceroid Lipofuscinosis |
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Ataxia, Clumsiness, Cognitive impairment, Mental deterioration, Myoclonus, Abnormal pyramidal sig... |
ORPHA:79262 |
Deiodinase, iodothyronine, type I |
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Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
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Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Inability to walk, Tip-toe gait, Cognitive impairment, Opisthotonus, Gait disturbance, Frequent f... |
ORPHA:216866 |
Spinocerebellar Ataxia Type 27 |
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Akinesia, Limb ataxia, Hand tremor, Truncal ataxia, Memory impairment, Gait disturbance, Tremor, ... |
ORPHA:98764 |
Scheuermann Disease |
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Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Bangstad Syndrome |
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Small for gestational age, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Pa... |
OMIM:210740 |
Fetal Iodine Deficiency Disorder |
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Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
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Primary hypothyroidism, Goiter |
OMIM:225040 |
Alternating Hemiplegia Of Childhood 2 |
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Status epilepticus, Hemiplegia, Ataxia, Episodic quadriplegia, Mental deterioration, Choreoatheto... |
OMIM:614820 |
Familial Thyroid Dyshormonogenesis |
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Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Weight loss, Goiter |
OMIM:613239 |
Glutaric Aciduria Iii |
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Failure to thrive, Goiter, Hyperthyroidism, Glutaric aciduria |
OMIM:231690 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
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Ataxia, Generalized myoclonic seizure, Myoclonus, Seizure, Dementia |
OMIM:208700 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
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Renal cyst, Multinodular goiter |
OMIM:138790 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
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Multinodular goiter, Multicystic kidney dysplasia |
ORPHA:2091 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Focal motor seizure, Akinesia, Freezing of gait, Clumsiness, Bradykinesia, Resting tremor, Parkin... |
OMIM:619911 |
Mental Retardation, X-Linked 82 |
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Kyphosis, Scoliosis |
OMIM:300518 |
Familial Scheuermann Disease |
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Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Progressive Myoclonic Epilepsy Type 1 |
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Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus, Dementia |
ORPHA:308 |
Myoclonus, Familial, 1 |
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Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Epilepsy, Progressive Myoclonic 7 |
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Ataxia, Mental deterioration, Myoclonus, Tremor, Seizure |
OMIM:616187 |
Graves Disease, Susceptibility To, 1 |
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Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Weigh... |
OMIM:275000 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dystonia, Dementia |
OMIM:125370 |
Spinocerebellar Ataxia Type 23 |
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Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Weight loss, Goiter, Hypokalemia, Hyperthyroidism |
OMIM:188580 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
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Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Blepharospasm, Falls, Spastic dys... |
ORPHA:240094 |
Maffucci Syndrome |
|
Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Neoplasm of the adrenal cortex, Scolios... |
ORPHA:163634 |
Kufor-Rakeb Syndrome |
|
Torticollis, Paraparesis, Ataxia, Akinesia, Parkinsonism with favorable response to dopaminergic ... |
OMIM:606693 |
Spinocerebellar Ataxia Type 15/16 |
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Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Sporadic Infantile Bilateral Striatal Necrosis |
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Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Atypical ... |
ORPHA:225147 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Thrombocytopenia, Nephritis, Euthyroid goiter |
ORPHA:3327 |
Spinocerebellar Ataxia Type 21 |
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Akinesia, Progressive cerebellar ataxia, Cognitive impairment, Rigidity, Tremor, Gait ataxia, Abn... |
ORPHA:98773 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Cognitive impairment, Myoclonus, Parkinsonism, Rigidity, Memory impairment, Chorea, Tremo... |
ORPHA:401901 |
Goiter, Multinodular 2 |
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Euthyroid multinodular goiter |
OMIM:300273 |
Developmental And Epileptic Encephalopathy 32 |
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Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616366 |
Rhabdomyosarcoma, Embryonal, 2 |
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Ovarian thecoma, Multinodular goiter, Thyroid nodule, Goiter |
OMIM:180295 |
Thyrocerebroretinal Syndrome |
|
Goiter, Thrombocytopenia, Nephritis |
OMIM:274240 |
Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter, Lymphadenopathy |
ORPHA:97285 |
Epilepsy, Progressive Myoclonic, 6 |
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Ataxia, Atonic seizure, Loss of ambulation, Myoclonus, Memory impairment, Myoclonic status epilep... |
OMIM:614018 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Inability to walk, Hyperactivity, Generalized myoclonic seizure, Dysmetria, Rigidity, Gait distur... |
OMIM:618090 |
Anaplastic Thyroid Carcinoma |
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Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Weight loss, Lymphadenopathy |
ORPHA:142 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... |
OMIM:618425 |
Spinocerebellar Ataxia 21 |
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Ataxia, Akinesia, Progressive cerebellar ataxia, Limb ataxia, Cognitive impairment, Mental deteri... |
OMIM:607454 |
Medullary Thyroid Carcinoma |
|
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... |
ORPHA:1332 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Progressive neurologic deterioration, Truncal ataxia, F... |
OMIM:616230 |
Hyperthyroidism, Nonautoimmune |
|
Goiter, Thyroid hyperplasia, Hyperthyroidism, Small for gestational age |
OMIM:609152 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Ataxia, Hyperactivity, Mental deterioration, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tr... |
OMIM:615924 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Torsion dystonia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (... |
ORPHA:98811 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
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Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... |
ORPHA:457059 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Igg4-Related Thyroid Disease |
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Abnormality of the pituitary gland, Hypocalcemia, Graves disease, Euthyroid goiter, Sialadenitis,... |
ORPHA:64744 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment, Intentio... |
ORPHA:98762 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperthyroidism, Small for gestational age, Activating thyroid-stimulating hormone receptor defec... |
ORPHA:424 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizure, Tremo... |
OMIM:617831 |
Permanent Congenital Hypothyroidism |
|
Thyroid dysgenesis, Goiter, Jaundice, Hypothyroidism |
ORPHA:226292 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Juvenile Huntington Disease |
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Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Myoclonus, ... |
ORPHA:248111 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... |
OMIM:616948 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Mental deterioration, Myoclonus, Difficulty walking, Bilateral tonic-clonic se... |
OMIM:619191 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Hyponatremia, Goiter, Thrombocytopenia |
ORPHA:83601 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Myxedema |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Goiter |
OMIM:255900 |
Autosomal Dominant Cerebellar Ataxia |
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Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Abnormality of extrapyramidal mot... |
ORPHA:99 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Dravet Syndrome |
|
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... |
OMIM:607208 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Weight loss, Thyroid hyp... |
ORPHA:99819 |
Cowden Syndrome 5 |
|
Hydrocele testis, Kyphosis, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism, Goiter, Thy... |
OMIM:615108 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Pendred Syndrome |
|
Thyroid carcinoma, Nephropathy, Hypothyroidism, Hyperparathyroidism, Goiter |
ORPHA:705 |
Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:226316 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... |
ORPHA:226313 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Pancreatitis, Ovarian cyst, Cholestasis, Hepatocellular adenoma, I... |
ORPHA:562 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... |
ORPHA:247234 |
Cowden Syndrome 6 |
|
Hydrocele testis, Kyphosis, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism, Goiter, Thy... |
OMIM:615109 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Focal impaired awareness seizure, Dysmetria, Limb ataxia, I... |
OMIM:117360 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Bradykinesia, Dysmetria, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, Mem... |
OMIM:618317 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Mental deterioration, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, G... |
OMIM:618093 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Atonic seizure, Hyperactivity, Focal impaired awareness seizure, Generalized myoclonic se... |
ORPHA:382 |
Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis |
OMIM:168400 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Graves disease, Hepatomegaly, Neutropenia in presence of anti-neutropil antibo... |
ORPHA:525731 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Short neck, Scoliosis |
ORPHA:2744 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... |
OMIM:607136 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Mental deterioration, Cognitive impairment, Dysdiadochokinesis, A... |
OMIM:617145 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Short neck, Elevated circulating creatine kinase concentration, Scolio... |
OMIM:300718 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Kyphosis, Small for gestational age |
ORPHA:85288 |
Cowden Syndrome 1 |
|
Hydrocele testis, Kyphosis, Lymphopenia, Hyperthyroidism, Ovarian cyst, Scoliosis, Hypothyroidism... |
OMIM:158350 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Hypertonia, Inability to walk, Blepharospasm, Babinski sign,... |
OMIM:128100 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Gait imbalance, Akinesia, Social and occupational deterioration, Axial dystonia, Blepharospasm, P... |
ORPHA:240071 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Medullary thyroid carcinoma, Pheochromocytoma, Scoliosis, Hyperlordosis, Elevated calci... |
OMIM:162300 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis |
OMIM:611225 |
Alstrom Syndrome |
|
Kyphosis, Hyperinsulinemia, Hepatomegaly, Nephritis, Decreased response to growth hormone stimula... |
OMIM:203800 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... |
ORPHA:40 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Dentatorubral Pallidoluysian Atrophy |
|
Oromandibular dystonia, Ataxia, Dyssynergia, Progressive cerebellar ataxia, Action tremor, Limb a... |
ORPHA:101 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive, Hepatomegaly, Splenomegaly |
ORPHA:796 |
Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... |
OMIM:615871 |
Mohr-Tranebjaerg Syndrome |
|
Mental deterioration, Tremor, Spasticity, Dystonia, Abnormal posturing |
OMIM:304700 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Decreased body weight, Small for gestational age |
OMIM:618392 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis |
OMIM:618234 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:600175 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
Brachyolmia Type 1, Hobaek Type |
|
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Congenital Hypothyroidism |
|
Nephrolithiasis, Abnormality of the thyroid gland, Prolonged neonatal jaundice, Thyroid dysgenesi... |
ORPHA:442 |
Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Dysmetria, Cognitive impairment, Generalized myoclonic seizure, Spastic paraparesis, Dysd... |
OMIM:614487 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Cognitive impairment, Abnormality of extrapyramidal motor function, Abnormal pyramidal si... |
ORPHA:280219 |
Perry Syndrome |
|
Akinesia, Bradykinesia, Parkinsonism, Rigidity, Tremor, Dystonia, Weight loss, Frontotemporal dem... |
OMIM:168605 |
Bethlem Myopathy 2 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:616471 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia, Increased circulating thyroglobulin level, Congenital hypothyroidism, Ectopic... |
OMIM:218700 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... |
ORPHA:99832 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Akinesia, Blepharospasm, Limb ataxia, Cognitive impairment, Parkinsonism, Ri... |
ORPHA:48818 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Cognitive impairment, Oculomotor apraxia, Dystonia, Tetraplegia |
OMIM:616267 |
Postencephalitic Parkinsonism |
|
Akinesia, Bradykinesia, Resting tremor, Tremor by anatomical site, Oculogyric crisis, Babinski si... |
ORPHA:97349 |
Manganese Poisoning |
|
Hypertonia, Akinesia, Bradykinesia, Abnormality of extrapyramidal motor function, Memory impairme... |
ORPHA:306682 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia, Resting tremor, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, Rigidity, ... |
OMIM:616840 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Micropenis, Cervical spinal canal stenosis, Scoliosis, Delayed puberty, Obesity, Crypto... |
OMIM:301900 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Recessive Mitochondrial Ataxia Syndrome |
|
Ataxia, Dysmetria, Impaired vibratory sensation, Cognitive impairment, Positive Romberg sign, Lim... |
ORPHA:94125 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait |
OMIM:619405 |
Multiple Endocrine Neoplasia, Type Iia |
|
Medullary thyroid carcinoma, Elevated urinary vanillylmandelic acid, Parathyroid adenoma, Elevate... |
OMIM:171400 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Akinesia, Ataxia, Blepharospasm, Bradykinesia, Hyperactivity, Mental deterioration, Abnormality o... |
OMIM:234200 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia |
OMIM:225250 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, ... |
ORPHA:652 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Blepharospasm, Mental deterioration, Abnormal pyramidal sign, Parkinsonism, ... |
ORPHA:98759 |
Multiple Endocrine Neoplasia Type 2 |
|
Medullary thyroid carcinoma, Elevated circulating parathyroid hormone level, Cervical lymphadenop... |
ORPHA:653 |
Tsh-Secreting Pituitary Adenoma |
|
Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... |
ORPHA:91347 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
ORPHA:411602 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Small for gestational age, Scoliosis, Abnormal circulating creatine kin... |
OMIM:618484 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity, Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Spinocerebellar Ataxia Type 18 |
|
Dysmetria, Head tremor, Somatic sensory dysfunction, Titubation, Gait ataxia |
ORPHA:98771 |
Cowden Syndrome |
|
Kyphosis, Failure to thrive, Abnormality of the thyroid gland, Abnormal penis morphology, Scolios... |
ORPHA:201 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Dysmetria, Impaired vibratory sensation, Babinski sign, Abnormal pyramidal sign, Spastic parapleg... |
ORPHA:459056 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Hypospadias, Kyphosis, Abnormal testis morphology, Scoliosis |
ORPHA:1548 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Supernume... |
OMIM:609813 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... |
OMIM:275200 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Failure to thrive, Hyperthyroidism, Elevated circulating creatine kinase concentration, Nocturia,... |
ORPHA:254892 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Anemia, Scoliosis, Delayed puberty |
ORPHA:2598 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Failure to thrive |
OMIM:620007 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Failure to thrive, Abnormality of the thyroid gland, Thyroid dysgenesis, Hypo... |
ORPHA:209905 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Kyphosis, Scoliosis |
ORPHA:276630 |
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures |
|
Obesity, Akinesia, Tongue fasciculations |
OMIM:618822 |
Cowden Syndrome 7 |
|
Goiter, Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ |
OMIM:616858 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increased circulatin... |
ORPHA:90673 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Cryptorchidism, Short neck |
OMIM:618393 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Myoclonus, Titubation, Impaired distal vibrat... |
ORPHA:98768 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Premature thelarche, Abnormal form of the vertebral bodies, Type I diabetes melli... |
ORPHA:371428 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:615290 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Thyroid hypoplasia, Central hypothyroidism |
OMIM:301035 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperlordo... |
ORPHA:3085 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Cryptorchidism, Prolonged neonatal jaundice |
OMIM:618512 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Positive Romber... |
OMIM:277460 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Failure to thrive, Akinesia, Hypertonia, Generalized tonic seizure, Small for gestational age, Sp... |
OMIM:619147 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Pallister-Hall Syndrome |
|
Distal urethral duplication, Precocious puberty, Decreased response to growth hormone stimulation... |
OMIM:146510 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Failure to thrive, Ataxia, Inability to walk, Titubation, Difficulty walking, Lower limb spastici... |
ORPHA:280210 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis, Truncal obesity |
ORPHA:2429 |
Carney Complex, Type 1 |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Pheochro... |
OMIM:160980 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Type II diabetes mellitus, Abnormal circulating lipid concentration, Short neck, Scolio... |
ORPHA:3191 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis |
OMIM:230650 |
Epilepsy, Progressive Myoclonic, 10 |
|
Ataxia, Progressive cerebellar ataxia, Generalized myoclonic seizure, Cognitive impairment, Myocl... |
OMIM:616640 |
Supranuclear Palsy, Progressive, 2 |
|
Frontolimbic dementia, Gait imbalance, Akinesia, Axial dystonia, Bradykinesia, Retrocollis, Parki... |
OMIM:609454 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive |
ORPHA:319199 |
Flynn-Aird Syndrome |
|
Kyphosis, Abnormality of the thyroid gland, Type II diabetes mellitus, Cachexia, Scoliosis, Prima... |
ORPHA:2047 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Kyphosis, Elevated circulating creatine kinase concentration, Spi... |
OMIM:615084 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nephrolithiasis, Kyphosis, Spinal rigidity, Hypergonadotropic hypogonadism, Elevated circulating ... |
ORPHA:352447 |
Familial Adenomatous Polyposis |
|
Thyroiditis, Pituitary adenoma, Abnormality of the thyroid gland, Cholangiocarcinoma, Neoplasm of... |
ORPHA:733 |
Hall-Riggs Mental Retardation Syndrome |
|
Irregular vertebral endplates, Kyphosis, Failure to thrive, Platyspondyly, Scoliosis |
OMIM:234250 |
Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Euthyroid goiter |
OMIM:113650 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Failure to thrive |
OMIM:618237 |
Mcdonough Syndrome |
|
Kyphosis, Cryptorchidism, Scoliosis, Cachexia |
ORPHA:2471 |
Supranuclear Palsy, Progressive, 1 |
|
Frontolimbic dementia, Gait imbalance, Akinesia, Axial dystonia, Bradykinesia, Retrocollis, Parki... |
OMIM:601104 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Ck Syndrome |
|
Slender build, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Myopathy, Congenital, Compton-North |
|
Akinesia, Small for gestational age |
OMIM:612540 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Seizure |
OMIM:225790 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Kyphosis, Cryptorchidism, Short neck, Scoliosis |
OMIM:611890 |
Mucolipidosis Iii Gamma |
|
Kyphosis, Increased serum beta-hexosaminidase, Short neck, Scoliosis, Hyperlordosis |
OMIM:252605 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis |
OMIM:618291 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Vertebral... |
OMIM:606612 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Kyphosis, Spinal rigidity, Short neck, Elevated circulating creatine kinase concentration, Scoliosis |
ORPHA:75840 |
Shashi-Pena Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617190 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Cryptorchidism, Short neck, Scoliosis |
ORPHA:178148 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Thrombocytopenia, Abnormality of the submandibular glands, Tu... |
ORPHA:79078 |
Unilateral Polymicrogyria |
|
Status epilepticus, Pseudobulbar paralysis, Focal impaired awareness seizure, Poor fine motor coo... |
ORPHA:268943 |
Pten Hamartoma Tumor Syndrome |
|
Multinodular goiter, Thyroid carcinoma, Thyroid adenoma |
ORPHA:306498 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity, Kyphosis, Scoliosis |
OMIM:618124 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Kyphosis, Renal insufficiency |
OMIM:248760 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of the thyroid gland, Scoliosis, Abnormal form of the vertebral bodies, Anemia |
ORPHA:3344 |
Lissencephaly Type Iii And Bone Dysplasia |
|
Akinesia |
OMIM:601160 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Hypogonadotropic hypogonadism, Scoliosis, Abnormality of the cervical spine |
ORPHA:48431 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Scoliosis, Obesity, Puberty and gonadal disorders, Urinary incontinence |
ORPHA:464282 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Cryptorchidism, Scoliosis, Small for gestational age |
ORPHA:352490 |
Marinesco-Sjogren Syndrome |
|
Kyphosis, Failure to thrive, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase... |
OMIM:248800 |
Baralle-Macken Syndrome |
|
Kyphosis, Obesity, Urinary incontinence |
OMIM:619255 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elevated circulating creatine kinase concentration |
OMIM:618138 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphosis, Kyphoscoliosis, Failure to thrive, Scoliosis, Hyperlordosis, Mildly elevated creatine k... |
ORPHA:536516 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Hypoplasia of penis, Abnormality of the ureter, Short neck, Hypogonadism, Obesity, Cryp... |
ORPHA:3409 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Testicular seminoma, Multinodular goiter |
ORPHA:276399 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal reticulocyte morphology, Hypospadias, Abnormality of the ureter, Short neck, H... |
ORPHA:2522 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis |
ORPHA:505652 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Abnormal posturing |
OMIM:614857 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Hepatomegaly, Scoliosis, Hypertriglyceridemia, Diabetes mellitus, Cryptorchidism, Hepat... |
OMIM:615381 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Short neck, Polycystic kidney dysp... |
OMIM:608776 |
Alpha-Mannosidosis |
|
Kyphosis, Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Short neck, Scoliosis |
ORPHA:61 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Cryptorchidism, Scoliosis, Hydronephrosis |
OMIM:619797 |
Clark-Baraitser syndrome |
|
Obesity, Kyphosis, Scoliosis, Macroorchidism |
OMIM:300602 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Failure to thrive, Thyroid dysgenesis, Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia, Thyro... |
ORPHA:3047 |
Sialidosis Type 2 |
|
Kyphosis, Nephropathy, Hepatomegaly, Splenomegaly |
ORPHA:87876 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Hypospadias, Scoliosis, Hyperlordosis, Sacral dimple |
OMIM:615761 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Myofibrillar Myopathy 10 |
|
Kyphosis, Elevated circulating creatine kinase concentration |
OMIM:619040 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Cryptorchidism, Scoliosis |
ORPHA:2617 |
Widow'S Peak Syndrome |
|
Kyphosis, Cryptorchidism |
OMIM:314570 |
Fucosidosis |
|
Kyphosis, Failure to thrive, Hepatomegaly, Anterior beaking of lumbar vertebrae, Hypothyroidism, ... |
ORPHA:349 |
Weismann-Netter Syndrome |
|
Horizontal sacrum, Kyphosis, Scoliosis |
OMIM:112350 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Slender build, Kyphosis, Scoliosis |
OMIM:300676 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Srd5A3-Cdg |
|
Kyphosis, Decreased response to growth hormone stimulation test, Hypothyroidism, Microcytic anemi... |
ORPHA:324737 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Scoliosis, Small for gestational age |
OMIM:615834 |
Metatropic Dysplasia |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Abnormal intervertebral disk morpholo... |
ORPHA:2635 |
Alg1-Cdg |
|
Kyphosis, Nephrotic syndrome, Scoliosis, Renal insufficiency, Hypoalbuminemia |
ORPHA:79327 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Thyroid Ectopia |
|
Hypothyroidism, Abnormality of the thyroid gland, Jaundice, Ectopic thyroid |
ORPHA:95712 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Chronic kidney disease, Proteinuria, Hyperuricemia, Obesity, Vesicoureteral reflux |
ORPHA:261222 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis, Exercise-... |
OMIM:607155 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia, Decreased body weight, Opisthotonus, Progressive neurologic deterioration, Seizure |
OMIM:608013 |
Atkin-Flaitz Syndrome |
|
Obesity, Kyphosis, Scoliosis, Macroorchidism |
OMIM:300431 |
Schaaf-Yang Syndrome |
|
Kyphosis, Micropenis, Scoliosis, Hypogonadism, Obesity, Cryptorchidism, Failure to thrive in infancy |
OMIM:615547 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Kyphosis, Micropenis, Hypospadias, Decreased testicular size, Hypogonadism, De... |
OMIM:300354 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Ruvalcaba Syndrome |
|
Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty |
OMIM:180870 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Pigmented m... |
OMIM:610475 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Metatropic Dysplasia |
|
Kyphosis, Kyphoscoliosis, Relatively short spine, Platyspondyly, Scoliosis, Long coccyx, Anisospo... |
OMIM:156530 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Elevated circulati... |
ORPHA:98855 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Prolonged ne... |
ORPHA:226307 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hyp... |
OMIM:219080 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Slender build, Kyphosis, Failure to thrive, Spinal rigidity, Scoliosis, Mildly elevated creatine ... |
OMIM:254090 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Short neck, Elevat... |
ORPHA:98863 |
Harrod Syndrome |
|
Kyphosis, Failure to thrive, Hypospadias, Multicystic kidney dysplasia, Scoliosis, Cryptorchidism |
ORPHA:2115 |
Thyroid Hypoplasia |
|
Hypothyroidism, Jaundice, Thyroid hypoplasia |
ORPHA:95720 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:300280 |
15Q24 Microdeletion Syndrome |
|
Kyphosis, Failure to thrive, Decreased response to growth hormone stimulation test, Small for ges... |
ORPHA:94065 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
19P13.12 Microdeletion Syndrome |
|
Kyphosis, Precocious puberty, Hyperlipidemia, Hypospadias, Short neck, Scoliosis, Hypothyroidism,... |
ORPHA:254346 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Failure to thrive, Splenomegaly, Short neck, Mucopolysacchariduria, Ovoid vertebral bodies |
ORPHA:583 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Gaucher Disease Type 1 |
|
Kyphosis, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Hematuria, Biliary tract obstruction... |
ORPHA:77259 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Scoliosis, Urinary incontinence |
OMIM:614409 |
Pituitary Adenoma 4, Acth-Secreting |
|
Nephrolithiasis, Kyphosis, Pituitary adenoma, Hypokalemia, Abdominal obesity, Increased circulati... |
OMIM:219090 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Dpagt1-Cdg |
|
Focal motor seizure, Ataxia, Inability to walk, Akinesia, Failure to thrive, Generalized myocloni... |
ORPHA:86309 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Hypoplasia of penis, Short neck, Spina bifida occulta, Hypogonadism |
ORPHA:2983 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Hypospadias, Abnormality of the ureter, Short neck, Scol... |
ORPHA:2311 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... |
OMIM:313400 |
Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Elevated circulati... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Increased LDL cholesterol concentration, Elevated circulati... |
ORPHA:98853 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:816 |
Mucopolysaccharidosis, Type Iva |
|
Chondroitin sulfate excretion in urine, Kyphosis, Hepatomegaly, Anterior beaking of lumbar verteb... |
OMIM:253000 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Sialidosis Type 1 |
|
Kyphosis, Aminoaciduria, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Scoliosi... |
ORPHA:812 |
Pelger-Huet Anomaly |
|
Kyphosis, Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, G... |
OMIM:169400 |
Becker Nevus Syndrome |
|
Kyphosis, Scoliosis, Supernumerary nipple, Spina bifida occulta |
ORPHA:64755 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Hypospadias, Multicystic kidney dysplasia, Scoliosis, Abnormality of the gallbladder, A... |
ORPHA:2075 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Hypospadias, Scoliosis, Hydronephrosis |
OMIM:616449 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Diastrophic Dysplasia |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Cryptorchidism, Hypoplastic cervical ... |
ORPHA:628 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Bruck Syndrome 1 |
|
Vertebral wedging, Kyphosis, Platyspondyly, Scoliosis |
OMIM:259450 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Kyphosis, Failure to thrive, Splenomegaly, Normocytic anemia, Macrocytic anemia, ... |
OMIM:615512 |
Mucopolysaccharidosis, Type Vii |
|
Kyphosis, Hepatomegaly, Splenomegaly, Anterior beaking of lumbar vertebrae, Short neck, Dermatan ... |
OMIM:253220 |
Gm1-Gangliosidosis, Type I |
|
Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Hepatomegaly, Vacuolated lym... |
OMIM:230500 |
Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Hepatomegaly, Platyspondyly, Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Cervical... |
OMIM:253010 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis |
OMIM:614898 |
Typical Nemaline Myopathy |
|
Kyphosis, Spinal rigidity, Short neck, Elevated circulating creatine kinase concentration, Scolio... |
ORPHA:171436 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2181 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis, Hematuria, Abnormality of vertebral epiphysis morphology, Delayed puberty, C... |
ORPHA:3121 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Cryptorchidism, Short neck, Hypoplasia of penis |
ORPHA:3082 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Scoliosis, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Scoliosis, Elevated 8(9)-cholestenol, Adrenal hypoplasia, Vertebral hy... |
OMIM:308050 |
Vici Syndrome |
|
Failure to thrive, Abnormal posturing, Seizure |
OMIM:242840 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Cervical platyspondyly, Abnormali... |
ORPHA:93314 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Chromosome Xq26.3 Duplication Syndrome |
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Kyphosis, Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circula... |
OMIM:300942 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
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Slender build, Kyphosis, Micropenis, Scoliosis, Hydronephrosis, Cryptorchidism |
ORPHA:364028 |
Mend Syndrome |
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Kyphosis, Cryptorchidism |
OMIM:300960 |
African Trypanosomiasis |
|
Akinesia, Fasciculations, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Difficulty ... |
ORPHA:3385 |
Congenital Disorder Of Glycosylation, Type Ia |
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Kyphosis, Failure to thrive, Nephrotic syndrome, Hepatomegaly, Hypergonadotropic hypogonadism, Hy... |
OMIM:212065 |
Trisomy 13 |
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Kyphosis, Abnormality of the ureter, Scoliosis, Multiple renal cysts, Hydronephrosis, Displacemen... |
ORPHA:3378 |
Smith-Mccort Dysplasia 1 |
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Kyphosis, Beaking of vertebral bodies, Atlantoaxial instability, Platyspondyly, Scoliosis, Hypopl... |
OMIM:607326 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
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Kyphosis |
ORPHA:77300 |
4Q21 Microdeletion Syndrome |
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Kyphosis, Short neck, Scoliosis |
ORPHA:238750 |
Koolen-De Vries Syndrome |
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Vertebral segmentation defect, Kyphosis, Hypospadias, Ureteral duplication, Scoliosis, Hypothyroi... |
ORPHA:96169 |
Frank-Ter Haar Syndrome |
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Kyphosis, Scoliosis, Beaking of vertebral bodies |
ORPHA:137834 |
Crisponi Syndrome |
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Kyphosis, Scoliosis |
ORPHA:1545 |
Magel2-Related Prader-Willi-Like Syndrome |
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Abdominal obesity, Kyphosis, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Sm... |
ORPHA:398069 |
X-Linked Intellectual Disability, Cabezas Type |
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Kyphosis, Hypoplasia of penis, Cachexia, Short neck, Scoliosis, Decreased testicular size, Hypogo... |
ORPHA:85293 |
Bruck Syndrome |
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Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Hypoparathyroidism, Kyphosis, Decreased response to growth hormone stimulation test, Hemivertebra... |
OMIM:618223 |
Rhizomelic Syndrome, Urbach Type |
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Kyphosis, Short neck, Abnormal form of the vertebral bodies |
ORPHA:3098 |
Hurler-Scheie Syndrome |
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Kyphosis, Hepatomegaly, Splenomegaly, Dermatan sulfate excretion in urine, Heparan sulfate excret... |
OMIM:607015 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
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Kyphosis, Kyphoscoliosis, Small for gestational age, Platyspondyly, Scoliosis, Abnormality of the... |
ORPHA:93360 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
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Kyphosis, Scoliosis |
ORPHA:1883 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Kyphosis, Abnormality of the thyroid gland, Scoliosis, Cachexia |
ORPHA:1969 |
Arthrogryposis Multiplex Congenita 5 |
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Hypertonia, Akinesia, Dystonia, Hand tremor |
OMIM:618947 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
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Kyphosis, Supernumerary nipple, Micropenis, Unilateral renal agenesis, Scoliosis, Cryptorchidism,... |
OMIM:619951 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... |
ORPHA:2916 |
Achondroplasia |
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Spinal canal stenosis, Kyphosis, Lumbar hyperlordosis, Cervical spinal canal stenosis, Thoracolum... |
ORPHA:15 |
Gm1 Gangliosidosis |
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Kyphosis, Failure to thrive, Splenomegaly, Hepatosplenomegaly, Platyspondyly, Scoliosis, Abnormal... |
ORPHA:354 |
Thanatophoric Dysplasia |
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Kyphosis, Platyspondyly, Abnormal sacroiliac joint morphology |
ORPHA:2655 |
Stüve-Wiedemann Syndrome |
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Hypothyroidism, Scoliosis, Ectopic thyroid, Sacral dimple |
ORPHA:3206 |
Desbuquois Dysplasia 1 |
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Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis, Obesity |
OMIM:251450 |
Marden-Walker Syndrome |
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Kyphosis, Micropenis, Hypospadias, Short neck, Scoliosis, Renal hypoplasia, Cryptorchidism |
OMIM:248700 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Hydroxyprolinuria, Kyphosis, Failure to thrive, Hydroxyprolinemia, Hypercalciuria, Hyperphosphate... |
OMIM:239000 |
Emanuel Syndrome |
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Kyphosis, Micropenis, Scoliosis, Renal hypoplasia, Cryptorchidism |
OMIM:609029 |
3C Syndrome |
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Kyphosis, Hypoplasia of penis, Hypospadias, Hemivertebrae, Short neck, Scoliosis, Adrenal hypopla... |
ORPHA:7 |
Atypical Rett Syndrome |
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Kyphosis, Scoliosis |
ORPHA:3095 |
Progressive Non-Infectious Anterior Vertebral Fusion |
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Kyphosis, Spinal rigidity, Hemivertebrae, Abnormality of the vertebral column, Scoliosis, Abdomin... |
ORPHA:2062 |
Megalocornea-Intellectual Disability Syndrome |
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Hypothyroidism, Kyphosis, Scoliosis, Hypercholesterolemia |
ORPHA:2479 |
Trisomy 20P |
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Vertebral segmentation defect, Kyphosis, Hypospadias, Abnormality of the ureter, Short neck, Plat... |
ORPHA:261318 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
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Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis |
OMIM:617821 |
Spondyloepiphyseal Dysplasia Congenita |
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Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Platyspondyly, Short neck, Scoliosis, O... |
OMIM:183900 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
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Kyphosis, Hepatomegaly, Scoliosis, Hyperlordosis, Thoracolumbar scoliosis, Obesity |
OMIM:618443 |
Spondyloepiphyseal Dysplasia Congenita |
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Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally ossified vertebrae, Cervic... |
ORPHA:94068 |
Pycnodysostosis |
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Kyphosis, Spondylolisthesis, Decreased response to growth hormone stimulation test, Spondylolysis... |
ORPHA:763 |
Spondyloenchondrodysplasia |
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Kyphosis, Chronic kidney disease, Decreased response to growth hormone stimulation test, Platyspo... |
ORPHA:1855 |
Cockayne Syndrome Type 2 |
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Kyphosis, Hepatomegaly, Scoliosis, Male hypogonadism, Cryptorchidism |
ORPHA:90322 |
Trisomy 9P |
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Kyphosis, Short neck, Scoliosis, Sacral dimple |
ORPHA:236 |
Mucopolysaccharidosis Type 4 |
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Spinal canal stenosis, Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis, Mucopolysac... |
ORPHA:582 |
Distal Tetrasomy 15Q |
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Hydrocele testis, Kyphosis, Scoliosis, Large for gestational age, Polycystic kidney dysplasia, Ho... |
ORPHA:314588 |
16P13.2 Microdeletion Syndrome |
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Kyphosis, Failure to thrive, Micropenis, Scoliosis, Hypogonadism, Cryptorchidism, Overweight |
ORPHA:500055 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Kyphosis, Lumbar hyperlordosis, Platyspondyly |
OMIM:616482 |
Wieacker-Wolff Syndrome |
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Kyphosis, Short neck, Scoliosis, Hyperlordosis |
OMIM:314580 |
Hurler Syndrome |
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Kyphosis, Hepatomegaly, Enlarged tonsils, Splenomegaly, Hepatosplenomegaly, Short neck, Dermatan ... |
OMIM:607014 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Kyphosis, Micropenis, Hypospadias, Hypogonadotropic hypogonadism, Scoliosis, Delayed puberty, Cry... |
OMIM:619718 |
Stickler Syndrome, Type I |
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Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Platyspondyly, Scoliosis, Morbus Scheue... |
OMIM:108300 |
Rett Syndrome |
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Kyphosis, Scoliosis, Cachexia |
OMIM:312750 |
Treacher-Collins Syndrome |
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Failure to thrive, Hypoplasia of penis, Abnormality of the adrenal glands, Hypoplasia of the thym... |
ORPHA:861 |
Wieacker-Wolff Syndrome, Female-Restricted |
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Kyphosis, Short neck, Scoliosis, Urinary incontinence |
OMIM:301041 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Nephrolithiasis, Congenital hypothyroidism, Thyroid hypoplasia |
ORPHA:521445 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Failure to thrive, Short neck, Scoliosis |
ORPHA:420794 |
Cardiofacioneurodevelopmental Syndrome |
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Kyphosis, Cryptorchidism, Asplenia, Abdominal situs inversus |
OMIM:619123 |
Scapuloperoneal Spinal Muscular Atrophy |
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Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Phace Association |
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Congenital hypothyroidism, Lingual thyroid |
OMIM:606519 |
Arthrogryposis, Distal, Type 4 |
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Lumbar scoliosis, Kyphosis, Scoliosis |
OMIM:609128 |
Developmental Malformations-Deafness-Dystonia Syndrome |
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Kyphosis, Scoliosis |
ORPHA:79107 |
Micro Syndrome |
|
Kyphosis, Hypoplasia of penis, Scoliosis, Delayed puberty, Hydronephrosis, Cryptorchidism |
ORPHA:2510 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
Pseudoachondroplasia |
|
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Atlantoaxial dislocation, Platyspond... |
OMIM:177170 |
Microphthalmia, Lenz Type |
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Kyphosis, Hypospadias, Hydroureter, Scoliosis, Hyperlordosis, Hydronephrosis, Cryptorchidism |
ORPHA:568 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Platyspondyly, Kyphosis, Hypocalcemia |
OMIM:618476 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Kyphosis, Kyphoscoliosis, Micropenis, Reduced alpha/beta synthesis ratio, Hypospadias, Hemiverteb... |
OMIM:301040 |
3M Syndrome |
|
Kyphosis, Increased vertebral height, Hypospadias, Short neck, Scoliosis, Hyperlordosis |
ORPHA:2616 |
2P15P16.1 Microdeletion Syndrome |
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Kyphosis, Failure to thrive, Supernumerary nipple, Multicystic kidney dysplasia, Scoliosis, Decre... |
ORPHA:261349 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Decreased serum testosterone concentration, Cryptorchidism, Small... |
ORPHA:2232 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Kyphosis, Failure to thrive, Micropenis, Unilateral renal agenesis, Hypospadias, Small for gestat... |
ORPHA:464311 |
Fountain Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta |
ORPHA:3219 |
Mucopolysaccharidosis, Type Ii |
|
Kyphosis, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Short neck, Dermatan sulfate excretion ... |
OMIM:309900 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Hepatomegaly, Lymphopenia, Increased intervertebral space, Cervic... |
ORPHA:508533 |
Camurati-Engelmann Disease |
|
Slender build, Kyphosis, Hepatomegaly, Splenomegaly, Cachexia, Leukopenia, Abnormality of the ver... |
ORPHA:1328 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Decreased body weight, Hepatomegaly, Micropenis, Decreased hemoglobin concentration, Sc... |
OMIM:619005 |
Lateral Meningocele Syndrome |
|
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis, Cryptorchi... |
ORPHA:2789 |
Koolen-De Vries Syndrome |
|
Kyphosis, Failure to thrive, Spondylolisthesis, Small for gestational age, Scoliosis, Hydronephro... |
OMIM:610443 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Failure to thrive, Scoliosis |
OMIM:617988 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Kyphosis, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemia, ... |
OMIM:176270 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Kyphosis, Failure to thrive, Micropenis, Unilateral renal agenesis, Hypospadias, Small for gestat... |
ORPHA:464306 |
Alkaptonuria |
|
Nephrolithiasis, Kyphosis, Decreased glomerular filtration rate, Intervertebral disc degeneration... |
OMIM:203500 |
Lateral Meningocele Syndrome |
|
Kyphosis, Short neck, Biconcave vertebral bodies, Scoliosis, Cryptorchidism, Vertebral fusion |
OMIM:130720 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Cryptorchidism, Scoliosis |
ORPHA:404440 |
Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Failure to thrive, Aminoaciduria, Cryptorchidism, Proximal renal tubular acidosis, Plat... |
OMIM:309000 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis |
OMIM:609541 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Alexander Disease |
|
Kyphosis, Failure to thrive, Precocious puberty, Short neck, Scoliosis, Hyperlordosis, Hypothyroi... |
ORPHA:58 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Failure to thrive, Scoliosis, Hypercalcemia, Urinary incontinence |
ORPHA:476126 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Mgat2-Cdg |
|
Kyphosis, Abnormality of the endocrine system, Failure to thrive, Scoliosis, Hypoplastic nipples,... |
ORPHA:79329 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Abnormal circulating creatine kinase concentration, Kyphosis, Cryptorchidism, Scoliosis |
ORPHA:2215 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis |
OMIM:603387 |
Schwartz-Jampel Syndrome |
|
Nephrolithiasis, Kyphosis, Decreased body weight, Spinal rigidity, Abnormally straight spine, Abn... |
ORPHA:800 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis, Urinary incontinence |
ORPHA:88644 |
Cohen Syndrome |
|
Kyphosis, Scoliosis, Delayed puberty, Neutropenia, Obesity, Cryptorchidism, Failure to thrive in ... |
ORPHA:193 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Kyphosis, Scoliosis, Cryptorchidism, Thrombocytopenia |
ORPHA:261250 |
Mosaic Trisomy 20 |
|
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Scoliosis, Fused cervical vertebr... |
ORPHA:1724 |
Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
Dyggve-Melchior-Clausen Disease |
|
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Short neck, Scoliosis... |
OMIM:223800 |
Noonan Syndrome 14 |
|
Kyphosis, Cryptorchidism, Short neck, Lymphopenia |
OMIM:619745 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopla... |
ORPHA:2166 |
Dysostosis, Stanescu Type |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
ORPHA:1798 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Scoliosis |
OMIM:211530 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Vertebral segmentation defect, Kyphosis, Scoliosis |
ORPHA:1005 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Kyphosis, Scoliosis |
OMIM:617061 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Acro-Renal-Mandibular Syndrome |
|
Kyphosis, Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis |
ORPHA:958 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Obesity, Kyphosis, Scoliosis |
OMIM:618493 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Cryptorchidism |
OMIM:619244 |
Thanatophoric Dysplasia Type 1 |
|
Kyphosis, Platyspondyly, Abnormal sacroiliac joint morphology |
ORPHA:1860 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Short neck, Scoliosis, Hydronephrosis |
ORPHA:140 |
Pallister-Hall Syndrome |
|
Adrenocorticotropic hormone deficiency, Precocious puberty, Abnormal prolactin level, Central adr... |
ORPHA:672 |
Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Kyphosis, Scoliosis |
OMIM:166220 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Platyspondyly, Hematuria, Pro... |
ORPHA:534 |
Hajdu-Cheney Syndrome |
|
Kyphosis, Failure to thrive, Hepatomegaly, Splenomegaly, Hypospadias, Short neck, Biconcave verte... |
ORPHA:955 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:88628 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Failure to thrive, Congenital hypothyroidism |
OMIM:617527 |
Poland Syndrome |
|
Vertebral segmentation defect, Kyphosis, Ureterocele, Hypospadias, Hemivertebrae, Short neck, Sco... |
ORPHA:2911 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Kyphosis, Kyphoscoliosis, Thoracic scoliosis, Hypertriglyceridemia, Diabetes mellitus, Cryptorchi... |
ORPHA:536532 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Kyphosis, Male urethral meatus stenosis, Hypospadias, Scoliosis, Hydronephrosis |
ORPHA:464738 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Failure to thrive, Hypomagnesemia, Hypocalcemia, Decreased response to growth hormone stimulation... |
OMIM:619503 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Chordee, Abnormality of the endocrine system, Kyphosis, Decreased response to growth hormone stim... |
ORPHA:268261 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Kyphosis, Anterior clefting of vertebral bodies, Hypospadias, Short neck, Scoliosis, Hypoplastic ... |
OMIM:265000 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Slender build, Kyphosis, Precocious puberty, Spondylolisthesis, Decreased response to growth horm... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Slender build, Kyphosis, Precocious puberty, Spondylolisthesis, Decreased response to growth horm... |
ORPHA:363958 |
Marden-Walker Syndrome |
|
Kyphosis, Failure to thrive, Abnormal penis morphology, Hypospadias, Hydroureter, Multicystic kid... |
ORPHA:2461 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Kyphosis, Platyspondyly, Hyposegmentation of neutrophil nuclei, Hyperlordosis, Thoracolumbar scol... |
OMIM:618019 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis |
OMIM:619909 |
1P36 Deletion Syndrome |
|
Annular pancreas, Kyphosis, Spinal canal stenosis, Failure to thrive, Hypoplasia of penis, Hyposp... |
ORPHA:1606 |
Wolf-Hirschhorn Syndrome |
|
Kyphosis, Failure to thrive, Hypospadias, Abnormality of the vertebral column, Scoliosis, Abnorma... |
ORPHA:280 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Kyphosis, Back pain, Sacroiliac arthritis |
OMIM:106300 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Kyphosis, Micropenis, Short neck, Scoliosis, Cryptorchidism, Vesicoureteral reflux, Sacral dimple |
OMIM:616894 |
|