Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Progressive muscle weakness, Gowers... |
OMIM:600462 |
Multicentric Reticulohistiocytosis |
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Muscle weakness, Cachexia, Histiocytosis |
ORPHA:139436 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Respiratory insufficie... |
OMIM:615512 |
Peroxisome Biogenesis Disorder 11B |
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Progressive muscle weakness, Hypotonia, Muscle weakness, Hepatosplenomegaly |
OMIM:614885 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Axial hypotonia, Failure to thrive in infancy, Small for gestational age, Decreased proportion of... |
OMIM:617241 |
Juvenile Primary Lateral Sclerosis |
|
Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Abnormal upper... |
ORPHA:247604 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... |
OMIM:205100 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle we... |
ORPHA:2590 |
Juvenile Amyotrophic Lateral Sclerosis |
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Neck flexor weakness, Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb ... |
ORPHA:300605 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, Proximal muscle weakness,... |
OMIM:608627 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
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Progressive external ophthalmoplegia, Ataxia, Cachexia, Generalized muscle weakness, Decreased ac... |
OMIM:613662 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... |
OMIM:300400 |
Oculopharyngodistal Myopathy |
|
Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal... |
ORPHA:98897 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... |
ORPHA:98912 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
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Lower limb spasticity, Progressive muscle weakness, Gowers sign, Generalized muscle weakness, Ste... |
OMIM:620285 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
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Abnormal lower motor neuron morphology, Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait... |
ORPHA:95434 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Decreased activity of mitochondrial complex IV, Decreased activity o... |
OMIM:619024 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... |
OMIM:611637 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Ataxia, Tremor, Progressive muscle weakness, Hypoto... |
OMIM:607426 |
Myopathy And Diabetes Mellitus |
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Neonatal hypotonia, Inability to walk, Progressive proximal muscle weakness, Babinski sign, Progr... |
ORPHA:2596 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Int... |
OMIM:615010 |
Ataxia-Telangiectasia |
|
Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor, Ataxia, S... |
OMIM:208900 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Episodic Ataxia With Slurred Speech |
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Tremor, Slurred speech, Muscle weakness, Gait ataxia |
ORPHA:401953 |
Arts Syndrome |
|
Ataxia, Progressive muscle weakness, Tetraplegia, Spinal cord posterior columns myelin loss, Grow... |
OMIM:301835 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Spasticity, Muscle weakness |
OMIM:611105 |
Riboflavin Transporter Deficiency |
|
Bulbar palsy, Ataxia, Facial palsy, Cachexia, Tremor, Hypotonia, Hypogonadism, Myoclonus, Limb mu... |
ORPHA:97229 |
Immunodeficiency 9 |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Gowers sign, Hypotoni... |
OMIM:612782 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Axial hypotonia, Cachexia, External ophthalmoplegia, Decreased activity of mitochondrial complex ... |
OMIM:612075 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp... |
ORPHA:275872 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Thromboc... |
ORPHA:824 |
Infantile Refsum Disease |
|
Hepatomegaly, Ataxia, Facial palsy, Short stature, Progressive muscle weakness, Hypotonia, Spasti... |
ORPHA:772 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic dysarthria, Pseudobulbar pa... |
OMIM:606353 |
Desminopathy |
|
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... |
ORPHA:98909 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Dystonia, Facial palsy, Proximal muscle weakness, Progressive proximal muscle weakness, Shoulder ... |
OMIM:167320 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Laing Early-Onset Distal Myopathy |
|
Distal muscle weakness, Progressive muscle weakness, Proximal muscle weakness in lower limbs, Gai... |
ORPHA:59135 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Inabili... |
OMIM:611890 |
Distal Anoctaminopathy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Progressive muscle weakness, Progressive ... |
ORPHA:399096 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Short stature, Hepatocellular carcinoma, Postnatal growth retardation, Splenomegaly... |
ORPHA:79240 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
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Abnormal lower motor neuron morphology, Vocal cord paralysis, Distal muscle weakness, Lower limb ... |
OMIM:607641 |
Marinesco-Sjogren Syndrome |
|
Hypergonadotropic hypogonadism, Ataxia, Short stature, Progressive muscle weakness, Hypotonia, Li... |
OMIM:248800 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Cryptorchidism, Thrombocytopen... |
OMIM:617053 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late... |
OMIM:613954 |
Amish Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Progressive muscle weakness, Neonatal hypotonia... |
ORPHA:98902 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatomegaly, Short stature, Abnormal erythrocyte enzyme level, Splenomegaly, Progressive muscle ... |
ORPHA:264580 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Progressive distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle... |
ORPHA:399058 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Growth delay... |
ORPHA:75233 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Axial hypotonia, Ataxia, Proximal muscle weakness, Progressive muscle weakness, Hypotonia, Append... |
OMIM:620166 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Failure to thrive in ... |
ORPHA:254875 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait... |
ORPHA:309169 |
Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Limb muscle weakness, Progressive distal muscle weakness, Fasciculat... |
ORPHA:641 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Foot dorsiflexor weakness, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexi... |
ORPHA:298 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Distal muscle weakness, Ataxia, Axial hypotonia, Tremor, Babinski sign, Abnormal pyr... |
OMIM:607317 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Total ophthalmoplegia, Progressive external ophthalmoplegia, Resting tremor, Neck flexor weakness... |
OMIM:157640 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia |
OMIM:612126 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Axial hypotonia, Ataxia, Tremor, Decreased activity of mitochondrial complex IV, Decreased activi... |
OMIM:618951 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Distal muscle weakness, Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Barth Syndrome |
|
Abnormal mitochondrial morphology, Abnormality of neutrophils |
ORPHA:111 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... |
OMIM:618987 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Anemia |
ORPHA:100024 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Distal muscle weakness, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxi... |
OMIM:616719 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Hypotonia, Spasticity, Generalized hypotonia, Palatal ... |
ORPHA:363717 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Distal muscle weakness, Proximal muscle weakness, Tremor, Fasciculations, Loss of ambulation |
OMIM:182980 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Proximal muscle weakness, Asplenia, Anemia, Hypoplastic splee... |
OMIM:185070 |
Ataxia-Telangiectasia |
|
Failure to thrive, Diabetes mellitus, Ataxia, Short stature, Tremor, Polycystic ovaries, Aplasia/... |
ORPHA:100 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal hypotonia, Progressive proximal muscle weakness, Spastic paraplegia, Small for gestation... |
OMIM:300076 |
Congenital Myopathy 10B, Mild Variant |
|
Axial hypotonia, Neck flexor weakness, Proximal muscle weakness, Progressive muscle weakness, Gen... |
OMIM:620249 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Hypoplastic spleen, Abnormal muscle tone |
ORPHA:89844 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Abnormality of mitochondrial metabolism, Weight loss, Leukopenia, Fai... |
ORPHA:33355 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Poor head control, Cachexia, Hypotonia, Axial muscle weakness, Gait disturbance |
ORPHA:157973 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Increased mitochondrial number, Tremor, Hypotonia, Dysmetria, Decreased activi... |
OMIM:615578 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Hypotonia, Leukopenia, Athetosis, Generalized hyp... |
OMIM:229050 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... |
ORPHA:93941 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Peroneal muscle weakness, Proximal muscle weakness, Progressive muscle weakness, Gowers sign, Hyp... |
OMIM:611588 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Diabetes mellitus, Parkinsonism, Proximal muscle weakness, ... |
OMIM:609286 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Hypotonia, Weight loss, Growth delay |
ORPHA:79238 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Progressive muscle weakness, Mitochondrial hypertrophy, Loss of ambulation, Failur... |
OMIM:619518 |
Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Progressive proximal muscle weakness, S... |
ORPHA:399103 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... |
ORPHA:77297 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Tremor, Progressive muscle weakness |
OMIM:605355 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Distal muscle weakness, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Waddling gait, Abnormal lower motor neuron morphology, Distal muscle weakness, Proximal muscle we... |
OMIM:611067 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Progressive proximal muscle weakness, Clumsiness, Steppage ga... |
ORPHA:399086 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re... |
OMIM:602099 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Facial hypotonia, Cachexia, Inability to walk, Appendicular hypoton... |
OMIM:616801 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly |
ORPHA:2576 |
Distal Myopathy With Anterior Tibial Onset |
|
Limb-girdle muscle weakness, Progressive proximal muscle weakness, Neck muscle weakness, Tibialis... |
ORPHA:178400 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatocellular carcinoma, Progressive muscle weakness, Microvesicular hepatic steatosis, Decrease... |
OMIM:256810 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Babinski sign, Spastic paraplegia, Spastic tetraplegia, T... |
OMIM:607225 |
Distal Myotilinopathy |
|
Progressive proximal muscle weakness, Loss of ability to walk in first decade, Progressive distal... |
ORPHA:98911 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Facial palsy, Progressive muscle weakness, Gowers sign, Ophthalmoplegia, Ophthalmo... |
ORPHA:169186 |
Christianson Syndrome |
|
Cachexia, Ophthalmoplegia, Truncal ataxia, Gait ataxia, Dystonia |
ORPHA:85278 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Distal muscle weakness, Short stature, Proximal mus... |
ORPHA:52430 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Ataxia, Clonus, Proximal muscle weakness, Tremor, Splenomegaly, Leukocytosis, Gower... |
OMIM:615673 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, L... |
ORPHA:277 |
Dk1-Cdg |
|
Short stature, Severe muscular hypotonia, Progressive muscle weakness, Infantile muscular hypoton... |
ORPHA:91131 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Tremor, Cryptorchidism, Abnormality of mitochondrial metabolism, Hypertonia, Gait ... |
ORPHA:1192 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia |
ORPHA:98934 |
Whipple Disease |
|
Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pyramidal sig... |
ORPHA:3452 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Weight loss, Gait ataxi... |
ORPHA:157941 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Cachexia, Anemia, Hepatomegaly |
ORPHA:2930 |
Myopathy, Scapulohumeroperoneal |
|
Neck flexor weakness, Facial palsy, Progressive muscle weakness, Wrist drop, Foot dorsiflexor wea... |
OMIM:616852 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Eosinophilia, Tremor, Cold paresis, Atrophy o... |
ORPHA:99965 |
Aredyld Syndrome |
|
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Type II diabetes mellitus, Type I diabetes m... |
ORPHA:1133 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypotonia, Hypoplasia of... |
OMIM:214110 |
Duchenne Muscular Dystrophy |
|
Waddling gait, Progressive muscle weakness, Proximal muscle weakness |
ORPHA:98896 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism,... |
OMIM:612541 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Short stature, Hypotonia, Choreoathetosis, Gait d... |
ORPHA:702 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Progressive external ophthalmoplegia, Decreased mitochondrial number, Gowers sign, Limb-girdle mu... |
ORPHA:352470 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ataxia, Cachexia, Proximal muscle weakness, Hypotonia, Fatigable weakness, Decrease... |
ORPHA:42 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Myopathy, Myofibrillar, 4 |
|
Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak... |
OMIM:609452 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Frequent falls, Limb-girdle muscle weakness, Gowers sign, Progressive proximal muscle weakness, G... |
ORPHA:254361 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Poor head control, Axial hypotonia, Tremor, Myoclonus, Dystonia, Failure to thrive |
OMIM:619651 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Hypotonia, Growth delay, Normochromic anemia, Neutropenia, Abnormal posturing, Fa... |
OMIM:614857 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inability to walk, Babin... |
OMIM:128100 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
External ophthalmoplegia, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogo... |
OMIM:615768 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Lower limb spasticity, Resting tremor, Distal muscle weakness, Short stature, Hoffmann sign, Babi... |
OMIM:601162 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Neck flexor weakness, Sh... |
ORPHA:457050 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Ataxia, Bone-marrow foam cells, Neurofibrillary tangles, Splenomegaly, Hypotonia, G... |
OMIM:257220 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... |
ORPHA:35689 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Proximal muscle weakness in l... |
ORPHA:276435 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, Severe short stature, B lymphocytopenia, Tongue fasciculations |
OMIM:619851 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Distal muscle weakness, Tremor, Leukocytosis, Choreoathetosis, Steppage gait, Gait disturbance, D... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Distal muscle weakness, Tremor, Babinski sign, Spasticity, Steppage gait, Hypertonia, Limb muscle... |
OMIM:609260 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism... |
OMIM:105500 |
Spinocerebellar Ataxia 38 |
|
Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Moynahan Syndrome |
|
Short stature, Hypogonadism, Cachexia |
ORPHA:2574 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Poor head control, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus,... |
ORPHA:206436 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive, Short stature |
OMIM:602361 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Ataxia, Short stature, Progressive proximal muscle weakness, Micronodular cirrhosis... |
ORPHA:98907 |
Rhabdoid Tumor |
|
Cerebral palsy, Weight loss, Anemia, Lymphadenopathy, Neoplasm of the liver, Oculomotor nerve pal... |
ORPHA:69077 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Hypotonia, Cachexia |
ORPHA:1216 |
Immunodeficiency 54 |
|
Hepatomegaly, Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly, Adren... |
OMIM:609981 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Progressive distal muscle weakness, Tremor, Inability to walk, Proximal muscle weakness in lower ... |
ORPHA:101077 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Boucher-Neuhauser Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Decreased circulating gonadotropin concentrat... |
OMIM:215470 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Mcdonough Syndrome |
|
Cryptorchidism, Short stature, Cachexia |
ORPHA:2471 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... |
OMIM:616921 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto... |
OMIM:617284 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Gowers ... |
OMIM:159950 |
X-Linked Creatine Transporter Deficiency |
|
Short stature, Ataxia, Cachexia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Pure red cell aplasia, Autoimmune thrombo... |
OMIM:613179 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Axial hypotonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... |
OMIM:613135 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Neutrophilia, Weakness due to upper motor neu... |
ORPHA:79139 |
Sialidosis Type 2 |
|
Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly, Generalized hypotonia, Muscle weakness |
ORPHA:87876 |
Spastic Paraplegia Type 7 |
|
Babinski sign, Abnormal pyramidal sign, Abnormal mitochondrial morphology, Upper limb muscle weak... |
ORPHA:99013 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Spasticity, Weight loss, Opisthotonus, Tip-toe gait, Gai... |
ORPHA:216866 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to... |
ORPHA:397596 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Hypotonia, Leukopenia, L... |
OMIM:620210 |
Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Distal muscle weakness, Abnormal iron deposition in mitochondria, Decreased... |
OMIM:255125 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Progressive external ophthalmoplegia, Distal muscle weakn... |
ORPHA:276244 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... |
OMIM:616005 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Barth Syndrome |
|
Cyclic neutropenia, Gowers sign, Abnormal mitochondrial morphology, Hypochromic microcytic anemia... |
OMIM:302060 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakness, Hypotonia, Abnor... |
OMIM:610131 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:86893 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Progressive cerebellar atax... |
ORPHA:248111 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia |
ORPHA:3204 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, Weight loss, Anemia, Prox... |
ORPHA:905 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Fasciculatio... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Fasciculatio... |
OMIM:616437 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Axial hypotonia, Ataxia, Tremor, Thrombocytopenia, Spastic tetraplegia, Dysmetria, Athetosis, Hyp... |
OMIM:617710 |
Diencephalic Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight |
ORPHA:1672 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Dystonia, Ataxia, Portal hypertension, Growth delay, Hepatic fibrosis, Bone marrow ... |
OMIM:617341 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Isolated Succinate-Coq Reductase Deficiency |
|
Poor head control, Severe short stature, Ataxia, Proportionate short stature, Proximal muscle wea... |
ORPHA:3208 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Broad-based gait, Cachexia, Paralysis, Abnormality of the spleen, Splenomegaly, Oph... |
ORPHA:2072 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Short stature, Cachexia |
ORPHA:1389 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Renpenning Syndrome |
|
Severe short stature, Diabetes mellitus, Cachexia, Growth delay, Decreased testicular size |
ORPHA:3242 |
Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology, Spastic tetraplegia, Hypotonia, Choreoathetosis, Generalized h... |
OMIM:300438 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Infantile axial hypotonia, Tremor, Babinski sign, Scissor gait, Oromandibular dysto... |
ORPHA:521406 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio... |
OMIM:613280 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Spinocerebellar tra... |
OMIM:617916 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Huntington Disease |
|
Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Generalized muscle ... |
ORPHA:399 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... |
ORPHA:363710 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Infantile axial hypotonia, Chorea, Babinski sign, Gait ataxia, Titu... |
ORPHA:225147 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Neonatal hypotonia, Axial hypotonia, Short stature, Cachexia, Spastic tetraplegia, Hypotonia, Inf... |
ORPHA:371364 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Spasticity, Dystonia |
OMIM:304700 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Babinski sign, Facial diplegia, Dystonia, Spasticity |
OMIM:618186 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Ataxia, Tremor, Growth delay, Spasticity |
OMIM:278780 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Distal muscle weakness, Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait, Limb muscle weakne... |
OMIM:618387 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Lower limb muscle weakn... |
OMIM:600363 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... |
OMIM:301078 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Distal muscle weakness, Abnormal anterior horn cell morphology, Proximal muscle weakness, Cryptor... |
ORPHA:1145 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, B... |
OMIM:137440 |
Bethlem Myopathy |
|
Waddling gait, Reduced maximal expiratory pressure, Distal muscle weakness, Limb-girdle muscle we... |
ORPHA:610 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Failure to thrive, Decreased proport... |
OMIM:618048 |
Sneddon Syndrome |
|
Tremor, Lymphopenia, Facial palsy, Hemiplegia |
OMIM:182410 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Muscle weakness, Anemia |
OMIM:175500 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Gait disturbance, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, Spas... |
OMIM:221770 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Cachexia, Splenomegaly, Leukopenia, Hypogonadi... |
ORPHA:1328 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Abnormality of the mitochondrion, Difficulty walkin... |
ORPHA:330050 |
Rett Syndrome |
|
Dystonia, Short stature, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity |
OMIM:312750 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Autoimmune ... |
ORPHA:37042 |
Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Short stature, Increased mean platelet volume, Splenomeg... |
ORPHA:84064 |
Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclo... |
ORPHA:391417 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Short stature, Ataxia, Absent pubertal growth spurt, Progressive muscle weakness, Unsteady gait, ... |
OMIM:615919 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Hypotonia, Limb ataxia, Dysmetria, ... |
OMIM:213200 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Muscle weakness, Fasciculations |
ORPHA:65684 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabet... |
ORPHA:2047 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Axial hypotonia, Tremor, Rigidity, ... |
ORPHA:70594 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism |
OMIM:619647 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Weight ... |
ORPHA:514 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Short stature, Progressive distal muscle weakness, Chronic pancr... |
ORPHA:98908 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Limb muscle weakness |
OMIM:607458 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Broad-based gait, Decreased proportion of class-switched memory B cells, Appendicular hypotonia, ... |
OMIM:619705 |
Atypical Rett Syndrome |
|
Total ophthalmoplegia, Neonatal hypotonia, Dystonia, Involuntary movements, Tremor, Inability to ... |
ORPHA:3095 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Ataxia, Bone-marrow foam cells, Neurofibrillary tangles, Splenomegaly, Jaundice, Hy... |
OMIM:607625 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Progressive proximal muscle weakness, Chorea, Hyperkinetic movements, Difficulty walking, Truncal... |
ORPHA:369847 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Poor head control, Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Axial hypotonia, Trem... |
OMIM:618049 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Weight loss, Increased... |
ORPHA:100083 |
Lethal Congenital Contracture Syndrome 10 |
|
Intrauterine growth retardation, Torticollis, Hypoplasia of the thymus |
OMIM:617022 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Postnatal growth retardation, Cryptorchidism, Microvesicular hepatic steatosis, Normochro... |
OMIM:610198 |
3-Methylglutaconic Aciduria, Type Viib |
|
Dystonia, Ataxia, Rhizomelia, Tremor, Hypotonia, Opisthotonus, Choreoathetosis, Leukopenia, Growt... |
OMIM:616271 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Growth delay... |
OMIM:614034 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyram... |
ORPHA:397946 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Axial hypotonia, Ataxia, Splenomegaly, Schistocytosis, Hypotonia, Hypochrom... |
OMIM:616084 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Ophthalmoparesis |
OMIM:260540 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Ataxia, Cachexia |
ORPHA:1933 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Distal muscle weakness, Abnormality of the dorsal column of the spinal cord, Trem... |
ORPHA:137898 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait apraxia, Babinski sig... |
OMIM:615157 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Distal muscle weakness, Ataxia, Parkinsonism, Generalized... |
OMIM:614298 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Distal muscle weakness, Ataxia, Proximal muscle weakness, External ophthalmoplegia, Tremor |
OMIM:618637 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor head control, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor ... |
ORPHA:79263 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Axial hypotonia, Facial hypotonia, Tremor, Babins... |
OMIM:300055 |
Congenital Fiber-Type Disproportion Myopathy |
|
Poor head control, Respiratory insufficiency due to muscle weakness, Progressive muscle weakness,... |
ORPHA:2020 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Supranuclear ophthalmopl... |
OMIM:164500 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Short stature, Cachexia, Tremor, Obesity, Hypogonadism, Decreased testicular size |
ORPHA:85293 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness |
OMIM:614373 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Foot dorsiflexor weakness, Ataxia, Abnor... |
OMIM:214500 |
Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Hypotonia, Generalize... |
OMIM:601186 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Short stature, Cachexia, Precocious puberty, Cryptorchidism, Postna... |
ORPHA:813 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Severe muscular hypotonia, Decreased response to growth hormone stimulation test... |
ORPHA:488632 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Muscle wea... |
ORPHA:713 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Poor head control, Ataxia, Short stature, Abnormality of coordination, Involuntary movements, Tre... |
ORPHA:442835 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Charcot-Marie-Tooth Disease And Deafness |
|
Distal muscle weakness, Ankle weakness, Tremor, Steppage gait, Gait disturbance, Limb muscle weak... |
OMIM:118300 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar atax... |
ORPHA:139485 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Generalized hypotonia, Laryngeal... |
ORPHA:845 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Short stature, Poor motor coordination, Tremor, Ophthalmoplegia, Hypotonia, Dysmetria, Ga... |
ORPHA:1170 |
4H Leukodystrophy |
|
Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogon... |
ORPHA:289494 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Generalized... |
ORPHA:98763 |
Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Opisthotonus, Growth delay, Hypertonia, Methemoglobinemia |
OMIM:250800 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Poor head control, Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetrapare... |
ORPHA:352649 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Inability to walk, Rigidity, Hypotonia, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Axial hypotonia, Spastic t... |
OMIM:619487 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Short stature, Parkinsonism, Tremor, Obe... |
ORPHA:3077 |
Sialidosis Type 1 |
|
Short stature, Ataxia, Tremor, Splenomegaly, Slurred speech, Hypotonia, Gait disturbance, Myoclon... |
ORPHA:812 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight loss, Leukopenia, Muscle we... |
ORPHA:520 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Choreoathetos... |
OMIM:261640 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Short stature, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dystonia |
OMIM:617836 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:42642 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Intrauterine growt... |
OMIM:615966 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Hypotonia, Cachexia |
ORPHA:1438 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation |
OMIM:617917 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic st... |
ORPHA:275761 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Short stature, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Trun... |
OMIM:610185 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I... |
OMIM:612736 |
Tetrasomy 12P |
|
Short stature, Hypotonia, Cachexia |
ORPHA:884 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... |
ORPHA:454887 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Short stature, Tremor, Cryptorchidism, Hypo... |
OMIM:300957 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Facial palsy, Truncal titubation, Inability to walk, External ophthalmoplegia, C... |
OMIM:607483 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Growth delay, Dystonia, Oculomotor apraxia, Spa... |
OMIM:612716 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal muscle weakness, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremo... |
OMIM:302800 |
Microsporidiosis |
|
Brain abscess, Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid g... |
ORPHA:2552 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Short stature, Abnormality of the tonsils, Abnormality of ... |
ORPHA:47 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Difficult... |
ORPHA:477673 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intrauterine growth retardation, Fa... |
ORPHA:217346 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis, Anemia |
ORPHA:71272 |
Isaacs Syndrome |
|
Fasciculations, Muscle weakness, Weight loss |
ORPHA:84142 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Hypotonia, Weight loss, Growth delay, Thrombocytopenia |
ORPHA:79242 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia, Short stature |
ORPHA:1368 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci... |
OMIM:105400 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akinesia, Involuntary mo... |
ORPHA:48818 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Axial hypotonia, Ataxia, Short stature, Tremor, Inability to walk, Abnormal pyramidal sign, Dysme... |
OMIM:614831 |
Cockayne Syndrome |
|
Progressive gait ataxia, Hypertonia, Intention tremor, Hepatomegaly, Ataxia, Cryptorchidism, Gait... |
ORPHA:191 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Axial hypotonia, Tremor, Inability to walk, Babinsk... |
OMIM:617013 |
Sézary Syndrome |
|
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:3162 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Spastic paraplegia, Gait disturbance, Tetraparesis |
OMIM:263570 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Ataxia, Short stature, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, O... |
OMIM:612438 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Short stature, Writer's cramp, Head titubation, I... |
OMIM:312080 |
Vici Syndrome |
|
Failure to thrive, Postnatal growth retardation, Hypotonia, Leukopenia, T lymphocytopenia, Abnorm... |
OMIM:242840 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Babinski sign, Decreas... |
OMIM:500013 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... |
ORPHA:79124 |
Isolated Anencephaly |
|
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... |
ORPHA:83471 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypotonia, Generalized hypotonia, Failure to thrive |
OMIM:608799 |
Lopes-Maciel-Rodan Syndrome |
|
Axial hypotonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hype... |
OMIM:617435 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Weight loss, Bone marrow hypocellularity, Ne... |
ORPHA:47612 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Diabetes insipidus, Megaloblastic anemia, Tremor... |
OMIM:222300 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, ... |
OMIM:617145 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Spinal cord compression, Weight loss, Myoclonus, Failure to thrive, Anemia |
OMIM:256700 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations, Loss of ambulation, Muscle ... |
OMIM:613435 |
Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Aicardi-Goutieres Syndrome 7 |
|
Generalized lymphadenopathy, Hypertonia, Generalized hypotonia, Hepatic steatosis, Hypothyroidism... |
OMIM:615846 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Growth delay, B lymphocytopenia |
OMIM:614069 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Type I diabetes... |
ORPHA:436252 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Rhizomelia, Hypotonia, Weight loss, Severe short-limb dwarfism, Failure to thrive, ... |
ORPHA:1842 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Growth delay, T lymphocytopenia, Decreased proportion of CD4-positi... |
OMIM:619510 |
Typhoid |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia |
ORPHA:99745 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations, Muscle weakness |
OMIM:619141 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, In... |
ORPHA:525731 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Short stature, Tremor, Splenomegaly, Unsteady gait, Hypotonia, Hepa... |
ORPHA:354 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Abnormality of the liver, Spasticity... |
OMIM:614307 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Overweight, Tremor, Hypoton... |
ORPHA:457240 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetrapl... |
ORPHA:206443 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Hypogonadotropic hypogonadism, Ataxia, Short stature, Postural tremor, Tremor, Babinski... |
OMIM:607694 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness, Babinski sign, S... |
OMIM:612069 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness, Spasticity |
OMIM:614808 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Parkinsonism, Motor neuron atrophy, Bradykinesia, Falls, Spinocerebellar tract degeneration, Shuf... |
ORPHA:412066 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Poor head control, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Infantile muscular hypotonia, ... |
ORPHA:572798 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, Acute leukemia, Muscle we... |
ORPHA:647 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Decreased activity of mitochondrial complex IV, Babinski sign, H... |
OMIM:616539 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Head titubation, Inability to walk, Tremor, Rigidity, Hypotonia, Gait ata... |
OMIM:618877 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Weight loss, Fatiga... |
ORPHA:99868 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Ataxia, Anterior pituitary hypoplasia, Sh... |
OMIM:616113 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Gait disturbance, Myoclonus, Abnorm... |
OMIM:607822 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Tremor, Growth delay, Intrauterine growth retardation, Failure to thrive, Muscle w... |
OMIM:617744 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Steppage gait, Hypertonia, Myoc... |
OMIM:616505 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegaly, Micronodular cirrhosis, Jaun... |
ORPHA:309854 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Gowers sign, Upper limb muscle weakness, Shuffling gait, Fasciculations, L... |
ORPHA:209335 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Amyotrophic lateral... |
OMIM:606070 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormal lymphatic vessel morphology, Weight loss, Growth delay, Decreased p... |
ORPHA:90362 |
Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Gait disturbance, Muscle weakness |
ORPHA:99014 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Br... |
OMIM:619063 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Hyperinsulinemia, Abnormal pyramidal sign,... |
ORPHA:363400 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal muscle weakness, Spasticity |
OMIM:611895 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Short stature, Tremor, Splenomegaly, Hypogonadism, Decreased serum testoste... |
OMIM:201100 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Cachexia, Weight loss |
ORPHA:1979 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Growth delay, Pseudobulbar... |
OMIM:616586 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Generalized... |
OMIM:233910 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ataxia, Spastic hemiparesis, Leukocytosis, Jaundice, Lipid accu... |
ORPHA:20 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Short stature, Tremor, Abnormality of the spleen, Hypotonia, Syringomyelia, In... |
ORPHA:94063 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Precocious puberty, Jaundice, Spinal cord tumor, Weight lo... |
ORPHA:370348 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Progressive external ophthalmoplegia, Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ... |
OMIM:208920 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Leukocytosis, Hypotonia, Weight loss, Extrapyramidal dyskinesia, Thrombocyt... |
ORPHA:134 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia, Weight loss |
ORPHA:2070 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,... |
OMIM:619738 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... |
ORPHA:227982 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... |
ORPHA:227990 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening, B lymp... |
ORPHA:508542 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par... |
ORPHA:167 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Trisomy 18 |
|
Short stature, Cachexia, Spina bifida, Cryptorchidism, Hypotonia, Growth delay, Hypertonia, Intra... |
ORPHA:3380 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Genera... |
OMIM:618060 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... |
OMIM:620133 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Bulbar palsy, Tremor, Fasciculations, Limb muscle weakness, Testicular atrophy |
OMIM:313200 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig... |
OMIM:616840 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Adrenal hypoplasia, Hypotonia, Growth delay, Hypoplasia of the thymus |
OMIM:613177 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Short stature, Cachexia, Generalized hypotonia, Anemia |
ORPHA:79076 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Short stature, Tremor, Inability to walk, Dysmetria, Limb ataxia, Growth... |
OMIM:617675 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Short stature |
ORPHA:3004 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakness, Hypertonia, Gener... |
ORPHA:466768 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Growth delay... |
ORPHA:765 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Blepharospasm, Abnormality of the adrenal glands, Hypoplasia of the thymus, Failu... |
ORPHA:861 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Lung abscess |
OMIM:241600 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Short stature, Postnatal growth retardation, Thyroiditis, Weight loss,... |
OMIM:212750 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Ataxia, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Anemia, Abn... |
OMIM:612199 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Gait ataxia, Abnormality of the liver, Hypertonia, Abnormalit... |
ORPHA:254892 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, Hepatic ... |
ORPHA:284 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Distal muscle weakness, Tremor, Hypotonia, First dorsal interossei muscle weakness, Impaired tand... |
OMIM:619574 |
Takayasu Arteritis |
|
Muscle weakness, Anemia, Weight loss |
ORPHA:3287 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Absce... |
ORPHA:400 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Short stature, Abnormality of the tonsils, Spina bifida, Cry... |
ORPHA:567 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Paralysis, Dystonia |
OMIM:300857 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Respiratory insufficiency due to muscle weakness, Inability to wa... |
ORPHA:365 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia... |
OMIM:620005 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Tremor, Vocal cord paralysis, Mitoc... |
ORPHA:397744 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Abdominal wall muscle weakness, Short stature, Cachexia, Hypotoni... |
ORPHA:109 |
Digeorge Syndrome |
|
Hepatic steatosis, Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone... |
OMIM:188400 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gait disturbance, Fasciculations |
OMIM:608030 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Proximal muscle weakness in lower limbs, Progressive proximal muscle weakness, Distal upper limb ... |
OMIM:620138 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Periodic paralysis, Weight loss, Muscle weakness, Goiter |
OMIM:188580 |
Schwartz-Jampel Syndrome |
|
Short stature, Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Decreased body weight, Test... |
ORPHA:800 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retard... |
OMIM:615190 |
Wiedemann-Rautenstrauch Syndrome |
|
Small for gestational age, Short stature, Cryptorchidism, Truncal ataxia, Hypotonia, Hypertonia, ... |
OMIM:264090 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... |
ORPHA:288 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Hypotonia, Weight loss |
OMIM:620045 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, E... |
ORPHA:199299 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow... |
ORPHA:293978 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Short stature, Ataxia, Cachexia |
ORPHA:220295 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia, Ophthalmoparesis, Weight ... |
OMIM:603041 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Tremor, Hypotonia, Anemia, Generalized hypotonia, Neutropenia, Failur... |
OMIM:251100 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Thyroiditis, Hepatitis, Weight loss, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
Fryns-Smeets-Thiry Syndrome |
|
Short stature, Hypotonia, Cachexia |
ORPHA:2058 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness |
OMIM:615515 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Head titubation, Atrophy of the spinal... |
ORPHA:99027 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Ataxia, Short stature, Tremor, Abnormal pyramidal sign, Dysmetria,... |
OMIM:614381 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Distal muscle weakness, Tremor, Inability to walk, Hyp... |
OMIM:617988 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Fatigable weakness of bulbar muscles, Motor neuron atro... |
ORPHA:803 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Abnormal testis morphology, Short stature, Weight loss |
ORPHA:317 |
Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Respiratory insufficiency... |
ORPHA:2905 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Thrombocytopenia, Cervical lymphadenopathy, Sp... |
ORPHA:50918 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Neurofibrillary tangles, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadocho... |
OMIM:610217 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Abnormality of the endoc... |
ORPHA:391487 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pituitary null cell adenoma... |
ORPHA:97289 |
Insulinoma |
|
Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy... |
ORPHA:97279 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Hepatomegaly, Self-mut... |
ORPHA:2388 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Progressive proximal muscle weakness, Muscle weakness |
ORPHA:368 |
Eec Syndrome |
|
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... |
ORPHA:1896 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Hyperthyroidism, Short stature, Proximal muscle weakness, Tremor, Gowers sign, Dysmetria, Growth ... |
ORPHA:502423 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Weight loss, Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter,... |
ORPHA:142 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Hepatomegaly, Dystonia, Ataxia, Short stature, Proximal muscle wea... |
OMIM:615356 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Ataxia, Parkinsonism, Proximal muscle weakness, Babi... |
OMIM:615911 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Gowers sign, Mitochondrial hypertrophy, Generalized hypotonia, Muscl... |
OMIM:602541 |
Xfe Progeroid Syndrome |
|
Severe short stature, Failure to thrive, Cachexia, Poor coordination |
OMIM:610965 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, N... |
ORPHA:99867 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Tetraparesis, Spasticity |
OMIM:617892 |
Oculogastrointestinal Muscular Dystrophy |
|
External ophthalmoplegia, Cachexia |
ORPHA:1876 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Hepatomegaly, Ataxia, Postnatal growth retardation, Cryptorchidism, Tremor... |
ORPHA:90321 |
Fraser Syndrome 2 |
|
Hypoplasia of the thymus |
OMIM:617666 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Weight loss |
ORPHA:188 |
Insulin Autoimmune Syndrome |
|
Insulin-resistant diabetes mellitus, Weight loss, Hyperinsulinemic hypoglycemia |
ORPHA:411593 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal hypotonia, Ataxia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased pro... |
ORPHA:221139 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Short stature, Ataxia, Postnatal growth retardation, Jaundice, Spas... |
ORPHA:168577 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... |
OMIM:240300 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Facial palsy, Paralysis, Tremor, Leukocytosis, Ophthalmoplegia, L... |
ORPHA:297 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape, Ataxia, Axial hypotonia, Hypotonia, Gait ataxia, Hypertonia, Spasti... |
ORPHA:543470 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Weight loss, Lymphadenopathy |
ORPHA:26790 |
Monosomy 22 |
|
Hypertonia, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Rigidity, Babinski sign, ... |
OMIM:234200 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... |
ORPHA:93958 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged n... |
OMIM:274150 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Progressive external ophthalmoplegia, Broad-based gait, Distal muscle weakness, Ataxia, Proximal ... |
OMIM:607459 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape, Generalized dystonia, Unsteady gait, Gait disturbance, Myoclonus, O... |
ORPHA:412217 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Abnormal mitochondrial shape, Unsteady gait, Decreased activity of mitochondrial co... |
ORPHA:17 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape, External ophthalmoplegia, Growth delay, Infantile axial hypotonia, ... |
ORPHA:485421 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnorma... |
ORPHA:646 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia |
ORPHA:67 |
Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... |
ORPHA:160 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Small for gestational age, Hypersplenism, Thrombocytop... |
ORPHA:1304 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... |
OMIM:301074 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Bulbar palsy, Distal muscle weakness, Amyotrophic lateral sclerosis, Ankle weakness, Respiratory ... |
ORPHA:600 |
Multiple Myeloma |
|
Spinal cord compression, Splenomegaly, Generalized muscle weakness, Weight loss, Lymphadenopathy,... |
ORPHA:29073 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
Scrub Typhus |
|
Tremor, Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Weight loss, ... |
ORPHA:781 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... |
ORPHA:131 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Poor head control, Microvesicular hepatic steatosis, Hypotonia, Macrovesicular hepa... |
OMIM:615595 |
Wilson Disease |
|
Hepatocellular carcinoma, Tremor, Hand tremor, Limb dystonia, Hepatic steatosis, Hypoparathyroidi... |
OMIM:277900 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... |
ORPHA:97282 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Neurofibrillary tangles, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia |
ORPHA:1020 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, Ataxia, Tremor, Hypotonia, Dysme... |
OMIM:212065 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Short stature, Extrapyramidal muscular rigidity, Dystonia, Neonatal alloimmune... |
ORPHA:51 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormality of the dorsal column of the spinal cord, Tremor, Babinski sign, Abnormal pyramidal si... |
ORPHA:447753 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:33577 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotropic hypogonadism, Tr... |
ORPHA:478 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Jaundice, Hypotonia, Growth delay, Hypertonia, Generalized hypotonia, N... |
OMIM:617248 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato... |
ORPHA:85450 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Dystonia, Tremor, Abnormal gallbladder morphology, Hemobilia, Infantile m... |
ORPHA:512 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Ataxia, Portal hypertension, Tremor, Splenomegaly, Congenital hepatic fibrosis, Hyp... |
ORPHA:1454 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Axial hypotonia, Truncal titubation, Tremor, Dysmetria, Gait ataxia... |
OMIM:618056 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction |
OMIM:612577 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Failure to thrive, B lymphocytopenia, Neutropenia |
OMIM:601495 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... |
ORPHA:65682 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Weight loss |
ORPHA:449400 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Tremor, Vocal cord paralysis, Weight loss, Paraganglioma |
ORPHA:94080 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l... |
ORPHA:2298 |
Addison Disease |
|
Normocytic anemia, Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular f... |
ORPHA:85138 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Weight loss, Lymphadenopathy |
ORPHA:2221 |
Unilateral Polymicrogyria |
|
Poor head control, Axial hypotonia, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor... |
ORPHA:268943 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Lymphadenopathy, Weight loss, Abnormal liver parenchyma morphology, ... |
ORPHA:1332 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss, Acute leukemia |
ORPHA:729 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Tremor, Hypotonia, Abnormality of extrapyramidal motor function, Generalize... |
OMIM:277400 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Small for gestational age, Ataxia, Decreased activity of mitochondrial ATP synthase complex, Trem... |
OMIM:614052 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst... |
ORPHA:411602 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Pituitary adenoma, A... |
ORPHA:144 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Severe muscular hypotonia |
OMIM:619036 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Distal muscle weakness |
OMIM:205250 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... |
OMIM:300755 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Lymphadenopathy... |
ORPHA:1333 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Abnormality of ext... |
ORPHA:100070 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Supranuclear ophthalmoplegia... |
ORPHA:683 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Mosaic Trisomy 9 |
|
Spina bifida, Asplenia, Cryptorchidism, Abnormal liver lobulation, Intrauterine growth retardation |
ORPHA:99776 |
African Trypanosomiasis |
|
Tremor, Choreoathetosis, Hepatomegaly, Abnormal central motor function, Paralysis, Abnormality of... |
ORPHA:3385 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... |
ORPHA:744 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Primary Ciliary Dyskinesia |
|
Asplenia, Polysplenia |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Absent outer dynein arms |
OMIM:244400 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Short stature, Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Abse... |
OMIM:307200 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, P... |
ORPHA:83617 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Abdominal wall muscle weakness, Diabetes mellitus, Neck flexor weakness, Increased mitochondrial ... |
ORPHA:263297 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Pituitary adenoma, A... |
ORPHA:440437 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Axial hypotonia, Tremor, Cryptorchidism, Fasciculations, Intrauteri... |
OMIM:620327 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Primary adrenal insu... |
ORPHA:95409 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Cryptorchidism, Abdominal situs inversus |
OMIM:619123 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Hemiplegia/hemiparesis, Gait disturbance, Eosinophilia, Weight loss |
ORPHA:183 |
Oculopharyngodistal Myopathy 1 |
|
Distal muscle weakness, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia,... |
OMIM:164310 |
Fumarase Deficiency |
|
Failure to thrive, Intrahepatic cholestasis, Hypotonia, Generalized hypotonia, Mitochondrial swel... |
OMIM:606812 |
Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Cryptorchidism, Hypotonia, B lymphocytopenia, Gener... |
ORPHA:79324 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Diabetes insipidus, Weight loss |
ORPHA:30925 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Weight loss |
ORPHA:324964 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Neurofibrillary tangles,... |
OMIM:609454 |
Seckel Syndrome |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:808 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Neurofibrillary tangles, Tremor, Rigidity... |
OMIM:601104 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Weight loss, Lymphadenopathy, Hepatosplenomegaly, Anemia |
ORPHA:85408 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Anemia |
ORPHA:52417 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Progressive external ophthalmoplegia, Decreased... |
ORPHA:352447 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97283 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia, Cachexia, Hepatomegaly |
ORPHA:75565 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Short stature, T lymphocytopenia, B lymphocytopenia, Intrauterine gr... |
OMIM:251260 |
Norrie Disease |
|
Diabetes mellitus, Clonus, Cachexia, Cryptorchidism, Hypotonia, Hypertonia, Delayed puberty, Fail... |
ORPHA:649 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight los... |
ORPHA:100075 |
Sweeney-Cox Syndrome |
|
Asplenia, Bilateral cryptorchidism |
OMIM:617746 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Proximal muscle weakness, Decreased activity of mitochondrial complex I, Failure to thrive, Mitoc... |
OMIM:618250 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Neonatal hypotonia, Ataxia, Tremor, Decreased activity of mitochondrial complex IV,... |
OMIM:610505 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Paralysis, Tremor, Thyrotoxicos... |
ORPHA:79102 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... |
ORPHA:171 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Short stature, Weight loss |
ORPHA:388 |
Giant Cell Arteritis |
|
Ataxia, Mediastinal lymphadenopathy, Ophthalmoparesis, Weight loss, Diabetes insipidus, Muscle we... |
ORPHA:397 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Decreased activity of mitochondrial... |
OMIM:614947 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... |
ORPHA:91347 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Short stature, Cachexia |
ORPHA:1969 |
Truncus Arteriosus |
|
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus |
ORPHA:3384 |
Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypotonia, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Listeriosis |
|
Brain abscess, Liver abscess, Ataxia, Abscess, Tremor, Jaundice, Peritonitis, Abnormal cellular i... |
ORPHA:533 |
Mucolipidosis Type Ii |
|
Axial hypotonia, Short stature, Postnatal growth retardation, Inability to walk, Splenomegaly, We... |
ORPHA:576 |
Focal Myositis |
|
Muscle weakness, Weight loss |
ORPHA:48918 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97280 |
Cockayne Syndrome A |
|
Hepatomegaly, Ataxia, Short stature, Tremor, Splenomegaly, Cryptorchidism, Severe postnatal growt... |
OMIM:216400 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Vocal cord paralysis, Weig... |
ORPHA:276621 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Ataxia, Short stature, Tremor, Splenomegaly, Hemiplegia/hemiparesis, ... |
ORPHA:355 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Distal muscle weakness, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... |
OMIM:606002 |
Cockayne Syndrome B |
|
Hepatomegaly, Severe short stature, Ataxia, Small for gestational age, Postnatal growth retardati... |
OMIM:133540 |
Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Leukocytosis, Chorea, Thrombocytosis... |
ORPHA:94093 |
Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Ataxia, Retroperitoneal fibrosis, Weight loss, Diabetes insipidus,... |
ORPHA:35687 |
Sarcoidosis |
|
Increased T cell count, Leukopenia, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Hyperthyroidi... |
ORPHA:797 |
Marfan Syndrome |
|
Slender build, Hypotonia, Cachexia, Dural ectasia |
ORPHA:558 |
Pseudoaminopterin Syndrome |
|
Short stature, Asplenia, Cryptorchidism, Ophthalmoplegia, Fatigable weakness, Infantile muscular ... |
ORPHA:221120 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Abnormal salivary gland... |
ORPHA:85443 |
Polymyositis |
|
Hepatomegaly, Proximal muscle weakness, Hypotonia, Weight loss, Gait disturbance |
ORPHA:732 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Spasticity, Ataxia, Intention tremor |
OMIM:117300 |
Feingold Syndrome 1 |
|
Accessory spleen, Asplenia, Vocal cord paralysis, Polysplenia, Annular pancreas |
OMIM:164280 |
Stevens-Johnson Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Weight loss, Pancreatitis, Anemia |
ORPHA:36426 |
Toxic Epidermal Necrolysis |
|
Weight loss, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:537 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Generalized muscle weakness, Enlarged lacrimal glands, Thyroiditis, Lym... |
ORPHA:79078 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
Stickler Syndrome |
|
Short stature, Cachexia, Hemiplegia/hemiparesis, Hypotonia, Slender build |
ORPHA:828 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia, Short stature |
OMIM:619657 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Facial palsy, Short stature, Congenital hypothyroidism, Hyd... |
OMIM:620186 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... |
ORPHA:100080 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Short stature, Ataxia, Weight loss, Clumsiness, Gait disturbance, Po... |
ORPHA:420741 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Short stature, Spina bifida, Cryptorchidism, Weight l... |
ORPHA:84 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Axial hypotonia, Adrenal hypoplasia, Malformation of the hepatic ductal plate, ... |
OMIM:249000 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Vocal cord paralysis, Adre... |
ORPHA:29072 |
Fatal Familial Insomnia |
|
Ataxia, Myoclonus, Weight loss |
OMIM:600072 |
Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron deficiency anemia, Small intestine c... |
ORPHA:100078 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104300 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles, Amyotrophic lateral sclerosis |
OMIM:619132 |
Behçet Disease |
|
Ataxia, Orchitis, Splenomegaly, Abnormal pyramidal sign, Lymphadenopathy, Weight loss, Hemiparesi... |
ORPHA:117 |
Rat-Bite Fever |
|
Parotitis, Lymphadenitis, Weight loss, Pancreatitis, Anemia |
ORPHA:31205 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Ataxia, Hypotonia, Weight loss, Apraxia, Pancreatic... |
ORPHA:99885 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104310 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, Intrauterine growth retardation |
ORPHA:251071 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... |
ORPHA:100082 |
Secondary Short Bowel Syndrome |
|
Cholestasis, Weight loss, Growth delay, Central hypothyroidism, Primary hypothyroidism, Failure t... |
ORPHA:95427 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Abnormality of extrapyramidal motor function |
OMIM:608907 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss |
ORPHA:309031 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... |
ORPHA:97278 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Weight loss, Chronic lymphatic leukemia |
ORPHA:91139 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Parkinsonism, Fatigable weakness of skeletal muscles, Syringomyeli... |
ORPHA:1320 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape, Hypotonia |
OMIM:610773 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Growth delay, Anemia |
ORPHA:667 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Pancreatic cysts, Congenital hep... |
ORPHA:564 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Weight l... |
ORPHA:100086 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Failure to thrive, Weight loss |
ORPHA:79128 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Abnormal liver sonography, Biliary tract abnormality, Weight loss, Neoplasm of... |
ORPHA:90003 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:606688 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Neutropenia |
ORPHA:79430 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia, Failure to thrive |
OMIM:306955 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... |
OMIM:181000 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Hashimoto thyroiditis, Hydrocele testis, Weight loss |
ORPHA:49041 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Short stature, Splenomegaly, Weigh... |
OMIM:219800 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... |
ORPHA:143 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Pulmonary lymphangiectasia, Hypotonia, Syringomyelia, Annular pancreas |
OMIM:265380 |
Granulomatosis With Polyangiitis |
|
Weight loss, Granulomatosis, Hemiplegia, Abnormality of the hypothalamus-pituitary axis, Diabetes... |
ORPHA:900 |
Dermatomyositis |
|
Hypotonia, Abnormal eosinophil morphology, Proximal muscle weakness, Weight loss |
ORPHA:221 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Parkinsonism, Apraxia |
OMIM:607485 |
Short Syndrome |
|
Severe short stature, Diabetes mellitus, Weight loss |
ORPHA:3163 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness |
OMIM:619133 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Abnormality... |
ORPHA:449395 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis |
OMIM:273395 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Intrauterine growth retardation, Abdominal situs ambiguus, Abdominal situs inversus |
OMIM:270100 |
Pancreatoblastoma |
|
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the liver, Hypoinsulinemia, Weight loss |
ORPHA:2126 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Nocardiosis |
|
Brain abscess, Liver abscess, Lymphadenitis, Peritonitis, Thyroiditis, Weight loss, Abnormality o... |
ORPHA:31204 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles |
OMIM:605055 |
Lambert-Eaton Myasthenic Syndrome |
|
Progressive proximal muscle weakness |
ORPHA:43393 |
Glossopharyngeal Neuralgia |
|
Vocal cord paralysis, Weight loss |
ORPHA:221098 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Parkinsonism, Maturity-onset diabetes of the ... |
ORPHA:1578 |
Malignant Atrophic Papulosis |
|
Muscle flaccidity, Peritonitis, Weight loss |
ORPHA:679 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Short stature, Weight loss |
ORPHA:37 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature adrenarche, Hypogonadotropic hypogonadism, Short ... |
ORPHA:90794 |
Juvenile Dermatomyositis |
|
Hypotonia, Muscle weakness, Weight loss |
ORPHA:93672 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Short stature, Asplenia, Cryptorchidism, Inability to walk, Hydrocele testis, P... |
ORPHA:261537 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Short stature, Asplenia, Cryptorchidism, Inability to walk, Hypotonia, ... |
ORPHA:2152 |
Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Apraxia |
OMIM:606889 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Short stature, Asplenia, Cryptorchidism, Inability to walk, Hydrocele testis, P... |
ORPHA:261552 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Muscle weakness, Weight loss |
ORPHA:99921 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Normochromic anemia, Reduced hematocrit, Weight loss |
ORPHA:91500 |
Pulmonary Alveolar Microlithiasis |
|
Fatigable weakness, Hepatomegaly, Testicular microlithiasis, Weight loss |
ORPHA:60025 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Decreased circulating carnitine concentration, Muscle weakness, Weight loss |
ORPHA:3337 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Goodpasture Syndrome |
|
Anemia, Weight loss |
OMIM:233450 |
Postinfectious Vasculitis |
|
Orchitis, Viral hepatitis, Weight loss |
ORPHA:48435 |
Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Weight loss, Shuffling gait, Severe failure to thriv... |
ORPHA:740 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |