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Gene: Dnajc11 MGI:2443386

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
DnaJ heat shock protein family (Hsp40) member C11
Synonyms:
E030019A03Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dnajc11 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dnajc11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
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
Progressive muscle weakness, Hypotonia, Muscle weakness, Hepatosplenomegaly OMIM:614885
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
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
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)
Progressive external ophthalmoplegia, Ataxia, Cachexia, Generalized muscle weakness, Decreased ac... OMIM:613662
Severe Combined Immunodeficiency, X-Linked
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
Lower limb spasticity, Progressive muscle weakness, Gowers sign, Generalized muscle weakness, Ste... OMIM:620285
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
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
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
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
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
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
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dnajc11

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dnajc11.

No publications found that use IMPC mice or data for Dnajc11.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dnajc11tm210446(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dnajc11tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dnajc11tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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