Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
iron responsive element binding protein 2
Synonyms:
Irp2,  D9Ertd85e

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Ireb2 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.

The table below shows human diseases associated to Ireb2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Choreoathetosis, Hypochromic anemia, Chorea OMIM:618451

The table below shows human diseases predicted to be associated to Ireb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Progressive microceph... ORPHA:521406
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Jau... OMIM:616860
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Abnormal pyramidal sign, Action tremor, Parkinsonism, Cerebellar atrophy, Inten... ORPHA:98762
Aceruloplasminemia
Dystonia, Decreased circulating copper concentration, Tremor, Increased circulating ferritin conc... ORPHA:48818
Dystonia, Dopa-Responsive
Incoordination, Transient hyperphenylalaninemia, Resting tremor, Dystonia, Bradykinesia, Cogwheel... OMIM:128230
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Spinocerebellar Ataxia Type 20
Cerebral calcification, Kinetic tremor, Abnormal pyramidal sign, Cerebellar atrophy, Intention tr... ORPHA:101110
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Decreased mean corpuscular volu... ORPHA:300298
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Elevated hepatic transaminase, Abnormality of iron homeostasis ORPHA:75563
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Cerebellar calcifications, Thalamic calcification, Generalized dystonia, Bradykines... OMIM:618824
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Hypoplasia of the corpus callo... OMIM:300423
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Elevated circulating creatine kinase concentration, Babinski sign, ... OMIM:160120
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Abnormal pyramidal sign, Hypertonia, Cerebellar atrophy, Kyphosis, Caudate atro... OMIM:617435
Spastic Paraplegia 78, Autosomal Recessive
Abnormal pyramidal sign, Parkinsonism, Cerebellar atrophy, Resting tremor, Impaired vibratory sen... OMIM:617225
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Neuroferritinopathy
Dystonia, Focal dystonia, Decreased circulating ferritin concentration, Dysphagia, Abnormal cauda... ORPHA:157846
Hypermanganesemia With Dystonia 2
Opisthotonus, Dystonia, Hyperintensity of cerebral white matter on MRI, Gait disturbance, Microce... OMIM:617013
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Substantia nigra gliosis, Rigidity, Gait ... OMIM:600116
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Intention tremor, Apraxia, Bradykinesia, A... OMIM:607136
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Dystonia, Bradykinesia, Ataxia, Abnormal cerebe... OMIM:618317
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepa... OMIM:616278
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Abnormal cerebral white matter morpholog... ORPHA:248111
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Decreased liver funct... ORPHA:231222
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Apr... OMIM:615157
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis, A... ORPHA:848
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebral atrophy, Cerebellar atrophy, Action tremor, Shuffling gait, Hearing impairment, Bradykin... ORPHA:254886
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... ORPHA:71517
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Dysdiadochokinesis, Symmetric lesions of the basal ganglia, Bradyki... OMIM:609161
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Global brain atrophy, Bradykinesia, Elevated circulating creatin... OMIM:612953
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Ataxia, Hyperphenylalaninemia,... OMIM:261640
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Limb ataxia,... OMIM:617018
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Increased circulating ferritin concentration, Hypochromia OMIM:205950
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Shuffling gait, Apraxia, Global brain atrophy, Bradyki... OMIM:221820
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Elevated hepatic transaminase, Increased total iron bin... ORPHA:98870
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal caudate nucleus morphology, Dystonia, Bradykinesia, Postural tremor, Rigidity, Diffuse c... ORPHA:314632
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Decreased liver function, Unconjugated... OMIM:613280
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Dysdiadoch... ORPHA:98755
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Neutropenia, Anemi... OMIM:604250
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Hearing impairment, Tr... ORPHA:217012
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Ataxia, Tremor OMIM:213000
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Dysphagia, Tremor OMIM:615945
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Unsteady gait, Dysphagia, Tor... ORPHA:210571
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Resting tremor, Shuffling gait, Dystonia, ... ORPHA:391411
Gracile Syndrome
Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... ORPHA:53693
Huntington Disease
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Neuronal loss in central nervous... OMIM:143100
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Cavitation of the basal ganglia, Decreased circulating f... OMIM:606159
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Abnormal caudate nucleus morphology, Eye of the tiger anomaly of globus pallidus, S... ORPHA:397725
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Ataxia, Steppage gait, Gait ataxia, Elevated circulating creatine ... OMIM:618387
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Cerebral cortical hemiatrophy, Dystonia, Bradykinesia, Scoliosis, Hemiparesis, Dila... ORPHA:306669
Autosomal Dominant Spastic Paraplegia Type 3
Spastic gait, Frequent falls, Impaired vibratory sensation, Hyperesthesia, Bradykinesia, Lower li... ORPHA:100984
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait d... OMIM:614561
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Dysdiadochokinesis, Bradykinesia, Athetosis, Rig... OMIM:213600
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Leukoencephalopathy... OMIM:615889
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Dystonia, Spastic tetraplegia, Inability to walk, Hypoplasia of... OMIM:618646
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Dystonia 31
Parkinsonism, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Dysphagia, Abnormal post... OMIM:619565
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, Abnormality of th... ORPHA:157941
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Neurodegeneration With Brain Iron Accumulation 6
Hypoplasia of the corpus callosum, Dystonia, Spastic tetraplegia, Neurodegeneration, Spastic para... OMIM:615643
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Rigidity, Chiari type I malformation, Tremor OMIM:617836
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Periportal fibr... ORPHA:101330
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia, Difficulty walking, Tremor ORPHA:423296
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:618805
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... ORPHA:329284
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Abnormality of the small intestine, Hepatomegaly, Anemia, Malabsorpti... ORPHA:100025
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... OMIM:606069
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcytic anemia, Hypochromic anemia, Increased circulating ferritin concentration, Sideroblasti... OMIM:600462
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Aceruloplasminemia, Ataxia, A... OMIM:604290
Autosomal Dominant Striatal Neurodegeneration
Dysdiadochokinesis, Bradykinesia, Rigidity, Dysphagia, Gait disturbance ORPHA:228169
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Dysdiadochokinesis, Cerebellar vermis atrophy, Diffuse cerebellar at... ORPHA:363710
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Progressive microcephaly, Ataxi... OMIM:617862
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Short stepped shuffling gait, Shuffling gait, Bradykinesia, Abnormal neuron morphol... ORPHA:412066
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Cholestasis, Hepatocellular necros... OMIM:231100
Caribbean Parkinsonism
Action tremor, Parkinsonism, Dystonia, Apraxia, Bradykinesia, Weakness due to upper motor neuron ... ORPHA:97355
Huntington Disease
Cerebral atrophy, Degeneration of the striatum, Caudate atrophy, Dystonia, Abnormal cerebral whit... ORPHA:399
Spastic Paraplegia 18, Autosomal Recessive
High palate, Hypoplasia of the corpus callosum, Kyphosis, Upper limb spasticity, Lower limb spast... OMIM:611225
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Spastic Paraplegia 80, Autosomal Dominant
Dystonia, Bradykinesia, Lower limb spasticity, Spastic paraplegia, Babinski sign, Gait disturbanc... OMIM:618418
Autosomal Recessive Dopa-Responsive Dystonia
Parkinsonism, Focal dystonia, Generalized dystonia, Oculogyric crisis, Bradykinesia, Ataxia, Limb... ORPHA:101150
Intellectual Developmental Disorder, X-Linked, Syndromic 13
High palate, Spastic gait, Parkinsonism, Resting tremor, Shuffling gait, Choreoathetosis, Apraxia... OMIM:300055
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Intrinsic Factor Deficiency
Absence of intrinsic factor, Megaloblastic anemia, Increased mean corpuscular volume, Malabsorpti... OMIM:261000
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Sensorineural hearing impairment, Tremor, Poor coordination, Abnormal cerebellum morph... OMIM:270500
Autosomal Dominant Dopa-Responsive Dystonia
Parkinsonism, Transient hyperphenylalaninemia, Abnormal substantia nigra morphology, Focal dyston... ORPHA:98808
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Diffuse cerebral atrophy, Gait disturbance, Leukoencephalopathy, Babinski sig... OMIM:300660
Corticobasal Syndrome
Somatic sensory dysfunction, Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Akinesi... ORPHA:454887
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Periventricular cysts, Hepatosplenomegaly, Hypopituitarism,... OMIM:619013
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Parkinsonism, Impaired vibratory sensation, Dilated fourth ventricle, F... OMIM:183090
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Resting tremor, Parkinsonism, Intention tremor, Bra... OMIM:300623
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Diffuse cerebral atrophy, Babinski si... OMIM:615362
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Motor stereotypy, Cerebellar hypoplasia, Hypoplasia of the brainstem, Lissencephaly, Ty... ORPHA:300570
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Dysphagia, Torticollis, Tremor OMIM:128235
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Action tremor, Dystonia, Decreased circulating ferritin concentration, Gait disturbance, Microcep... ORPHA:309854
Cerebellar Ataxia And Albinism
Head tremor, Olivopontocerebellar atrophy, Ataxia OMIM:258300
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration, Abnormal circulating copper concentration OMIM:121270
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Ataxia-Pancytopenia Syndrome
Pancytopenia, Cerebellar atrophy, Dysmetria, Hypoplastic anemia, Ataxia, Impaired vibration sensa... OMIM:159550
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Hypoplasia of the corpus callosum, Caudate atrophy, Apraxia, T2 hypointense thalamus, Basal gangl... OMIM:618193
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... OMIM:603358
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait, Bradykinesia, Hemidystonia, Focal T2... OMIM:619052
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Focal dystonia, Apraxia, In... ORPHA:240103
Cach Syndrome
Abnormal pons morphology, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brain... ORPHA:135
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Po... ORPHA:3202
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hepatomegaly, Macroglossia, Elevated circulating creatine kinase concentration... OMIM:251900
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Cerebral atrophy, Choreoathetosis, Hypoplasia of the cor... OMIM:618877
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Dystonia, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dy... ORPHA:98760
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Colitis, Elevated circulatin... OMIM:604416
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Thoracic kyphosis, Thoracic scoliosis, Hypoplasia of the corpus ca... OMIM:610185
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor, Gait disturbance OMIM:616710
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Elevated circulating creatine kinase concentration, Distal sensory impairment, Di... OMIM:615048
Srd5A3-Cdg
Microcytic anemia, Cerebellar atrophy, Abnormal cerebellum morphology, Ataxia, Elevated hepatic t... ORPHA:324737
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperprolinemia, Increased serum pyruvate, Splenomegaly, Ataxia, Focal T2 hyperintense thalamic l... OMIM:619046
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Jejunitis, Normocytic anemia, Hypocalcemia, Abnormal spleen p... ORPHA:398063
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Increased circulating ferritin concentration, Cerebellar hypoplasia, Subcor... ORPHA:3240
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Spastic Paraplegia 46, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Kyphosis, Upper limb spasticity, Head tremor,... OMIM:614409
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Congenital hepatic fib... ORPHA:446
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Hearing impairment, Bradykinesia, Gait ataxia, Impaired distal vibration sens... ORPHA:98768
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Dysmetria, Dystonia, Hearing impairment, Sensorineural hearing impairment, Bradyk... OMIM:601338
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Cerebellar hypoplasia, Tremor, Unsteady gait, Limb ataxia, Spasticity, Trunca... OMIM:615768
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Agenesis of corpus callosum, Impaired vibration sensation in the l... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Increased serum pyruvate, Ataxia, Unsteady gait,... OMIM:619405
Machado-Joseph Disease
Cerebellar atrophy, Parkinsonism, Dystonia, Impaired vibratory sensation, Dilated fourth ventricl... OMIM:109150
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Fasciculations, Bradykinesia, Ataxia, Rigidity, Spasticity OMIM:183050
Mitochondrial Membrane Protein-Associated Neurodegeneration
Frequent falls, Parkinsonism, Hand tremor, Shuffling gait, Abnormal substantia nigra morphology, ... ORPHA:289560
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity... ORPHA:240085
Tay-Sachs Disease
Dystonia, Global brain atrophy, Gait disturbance, Dysphagia, Exaggerated startle response, Abnorm... ORPHA:845
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Involuntary movements, Bradykinesia, Limb dystonia, Laryng... OMIM:612067
Infantile Dystonia-Parkinsonism
Abnormal pyramidal sign, Parkinsonism, Dystonia, Oculogyric crisis, Gastroesophageal reflux, Brad... ORPHA:238455
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Kyphosis, Ataxia, Gait ataxia, Scoliosis, Spasticity, Limb ataxia OMIM:610743
Neurodevelopmental Disorder With Seizures And Brain Atrophy
High palate, Low-set ears, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Hypopla... OMIM:619072
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Impaired oropharyngeal swallow response, Hand tremor, Shuffling... ORPHA:53351
Leukoencephalopathy With Dystonia And Motor Neuropathy
Intention tremor, Head tremor, Abnormality of thalamus morphology, Abnormal motor neuron morpholo... OMIM:613724
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia, Lethargy OMIM:618683
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Parkinsonism, Bradykinesia, Mildly elevated creatine kinase, Steppage gait, Gait ataxia, Elevated... OMIM:258450
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Spasticity, Leukoencephalopathy, Babinski sign, Tremor OMIM:611105
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Ataxia, Hepatomegaly, Spastici... OMIM:615924
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Extrapyramidal muscular ... ORPHA:99750
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Dilated third ventricle, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Sc... ORPHA:363654
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Dilated third ventricle, Bradykinesia, ... OMIM:619725
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Abnormal pyramidal sign, Senile plaques, Spastic dysarthria,... ORPHA:282166
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Distal sensory impairment, Scoliosis, Difficulty walking, Hearing impairment OMIM:617087
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... OMIM:237800
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Kyphosis, Dystonia, Sensorineural hearing impairment, Inability to walk, Lower ... OMIM:616756
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal pyramidal sign, Type II lissencephaly, Dilated fourth ventricle, Cerebellar cyst, Cerebe... ORPHA:370959
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Opisthotonus, Choreoathetosis, Dystonia, Oculogyric crisis, Bradykinesia, Ataxia, Rigidity, Clonu... ORPHA:13
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231226
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Akinesia, Ataxia, Parapares... OMIM:606693
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Postencephalitic Parkinsonism
Abnormal pyramidal sign, Kyphosis, Resting tremor, Abnormal substantia nigra morphology, Oculogyr... ORPHA:97349
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:616187
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Parkinsonism, Dystonia, Oculogyric crisis, Oromandibular dys... OMIM:613135
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Frequent falls, Intention tremor, Spastic dysarthria, Cerebellar hypoplasia, Unste... ORPHA:314978
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Cholelithiasis, Decreased liver function, Cirrhosis, Abnormal circulating porp... ORPHA:79278
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Intention tremor, Lower limb spasticity, ... OMIM:616948
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Malaria
Acute kidney injury, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubi... ORPHA:673
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Multiple System Atrophy, Cerebellar Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... ORPHA:227510
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Impaired pain sensation, Ataxia, Scoliosis, Gait disturbance, Hearing impairment, Tremor ORPHA:101075
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Cerebellar hypoplasia, Chronic neutropenia, Partial agenesis of the ... OMIM:619302
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Inability to walk, Rigidity, Ga... OMIM:618090
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Renal tubular acidosis, Abnormal caudate nucleus morphology, Basal gangli... ORPHA:70474
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Dilated cardiomyopathy, Splenomegaly, Hepatomegaly,... OMIM:602390
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Apraxia, Bradykinesia, Gait ataxia, Tr... OMIM:137440
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Thoracic kyphosis, Hypercalcemia, Conductive hearing impairment, Hypo... ORPHA:557003
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dysmetria, Dystonia, Spastic dysarthria, Cerebellar hypoplasia, Gait ataxia, Progressive cerebell... ORPHA:314603
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
High palate, Abnormal pons morphology, Short neck, Cirrhosis, Cerebellar hypoplasia, Hearing impa... OMIM:300868
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Scoliosis, Difficulty walking, Myoclo... OMIM:614018
Combined Oxidative Phosphorylation Defect Type 7
Abnormal pyramidal sign, Thoracic scoliosis, Paralytic ileus, Inability to walk, Oral-pharyngeal ... ORPHA:254930
Anemia, Congenital Dyserythropoietic, Type Iv
Anisocytosis, Anemia, Increased RBC distribution width, Hyperbilirubinemia, Reduced haptoglobin l... OMIM:613673
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Hepatic failure, Splenomegaly, Ataxia, Hepatomegaly, Gait ata... OMIM:616719
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Progressive cerebella... ORPHA:284332
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Microcephaly,... OMIM:614946
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231214
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Action tremor, Parkinsonism, Axial dystonia, Head tremor, Progress... OMIM:604326
Leigh Syndrome
Hepatic failure, Lacticaciduria, Gastrointestinal dysmotility, Olivopontocerebellar atrophy, Athe... ORPHA:506
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Cerebellar hypoplasia, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Cerebellar atrophy, Abnormal platelet function, Hyp... ORPHA:2585
Multiple System Atrophy
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... ORPHA:102
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment, Decreased liver function, Ataxia... OMIM:614867
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Atrophy/Degeneration affecting the brai... ORPHA:66634
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration ORPHA:1551
Dystonia 23
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... OMIM:614860
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Kinetic tremor, Parkinsonism, Dystonia, Abnormal substantia nigra mor... ORPHA:98756
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Myoclonic spasms, Motor stereotypy, Loss of a... ORPHA:79264
Parkinsonism With Polyneuropathy
Resting tremor, Bradykinesia, Rigidity, Diffuse cerebral atrophy, Parkinsonism with favorable res... OMIM:619279
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Gastrointestinal hemorrhage, Increased hematocrit, Thrombocyt... OMIM:263300
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Childhood-Onset Nemaline Myopathy
High palate, Bradykinesia, Mildly elevated creatine kinase, Scoliosis, Neuromuscular dysphagia, S... ORPHA:171439
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Tort... ORPHA:276193
Behr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, T... OMIM:210000
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurofibrillary tangles, Dystonia, Neurodegenera... OMIM:610217
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Cerebellar atrophy, Hypercholesterolemia, Ataxia, Steppage gait, Distal sensory... OMIM:607250
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Dystonia, Resting tremor, Titubation, Bradykinesia, Gait ataxia, Hemiplegia, Dyspha... ORPHA:225147
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Abnormal cerebral white matter morphology, Fasciculations, Ataxia, Gait... OMIM:607317
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysarthria, Spastic parapleg... ORPHA:251282
Rett Syndrome
Dystonia, Progressive microcephaly, Motor stereotypy, Stereotypical hand wringing, Cholecystitis,... ORPHA:778
Japanese Encephalitis
Opisthotonus, Dystonia, Cogwheel rigidity, Respiratory paralysis, Abnormality of extrapyramidal m... ORPHA:79139
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar cyst, Abnormal brainstem morphology, I... ORPHA:370022
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Polymicrogyria, Elevated hepatic transaminase, Cerebellar vermis hypoplasia OMIM:612379
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Impaired pain sensation, Ataxia, Scoliosis, Gait disturbance, Hearing impairment, Tremor ORPHA:101078
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Bradykinesia, Babinski sign, Protein-losing enteropathy OMIM:619063
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Parkinsonism, Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Broad-based gait, Hyper... OMIM:617384
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal putamen morphology, Spastic tetraplegia, Abnormal brainstem morphology, ... ORPHA:88619
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxi... ORPHA:98763
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Dystonia, Gait ataxia, Scoliosis, Spasticity, Cerebral cortical at... OMIM:611390
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Spastic dysarthria, Cerebellar vermis atrophy, Global brain atrophy, Ataxia... ORPHA:94124
Huntington Disease-Like 2
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea OMIM:606438
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Spasticity,... OMIM:213200
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Generalized cerebral atrophy/hypoplasia, Bradykinesia, Ataxia, Cortical dysplasia... ORPHA:36387
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Choreoathetosis, Hypercholesterolemia, Oculomotor apraxia, Ataxia, ... OMIM:208920
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Multiple System Atrophy, Parkinsonian Type
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Resting tremor, Axial dystonia, Bradykines... ORPHA:98933
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Cerebral calcification, Mild proteinuria, Increased serum pyruvate, Hypospadias, Akinesia, Microc... OMIM:619147
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Cerebral atrophy, Abnormal pyramidal sign, Impaired proprioception, Spastic dysarthria, Sensorine... ORPHA:352641
X-Linked Progressive Cerebellar Ataxia
Dysmetria, Frequent falls, Intention tremor, Spastic dysarthria, Cerebellar vermis atrophy, Unste... ORPHA:1175
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... ORPHA:423275
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Elevated circulating C-reactive protein concentration, Hepatomegaly, ... OMIM:619423
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia, Abnormal periventricular white matter morphology ORPHA:306686
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Inability to walk, Elevated circulating creatine kinase concentration, Impaired d... ORPHA:276435
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... OMIM:615234
Autosomal Spastic Paraplegia Type 58
Microcephaly, Clonus, Tremor, Cerebellar atrophy, Dysmetria, Frequent falls, Unsteady gait, Gait ... ORPHA:397946
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia, Lacticaciduria, Falls OMIM:618811
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Atrophy/Degeneration involving the spinal cord, Abnormal cerebellar... ORPHA:70595
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Cerebral atrophy, Hyperhomocystinemia, Homocystinuria, Megaloblastic anemia, Lethargy, Gait distu... OMIM:236270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Frequent falls, Kyphosis, Cerebellar cyst, Hyperlordosis, Macroglossia, Eleva... OMIM:606612
Spinocerebellar Ataxia 35
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... OMIM:613908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Cerebellar hypoplasia, Sensorineural hearing impairment, Inability to walk, Ataxia, Elevated circ... OMIM:615350
Adult-Onset Nemaline Myopathy
High palate, Bradykinesia, Mildly elevated creatine kinase, Neuromuscular dysphagia, Difficulty w... ORPHA:171442
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Spastic tetraparesis, Dystonia, Cholestasis, Bradykinesia, Hepatomega... OMIM:614924
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... OMIM:616053
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Dystonia, Oculomotor apraxia, Ataxia, Gai... OMIM:617145
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Akinesia, Rigidity, Tremor OMIM:614203
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia, Hypoalbuminemia, Abnormal thalamic MRI signal inte... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypernatremia, Prolonged neonatal jaundice, Hemolytic anemia, Hypoalbuminemia, Abnormal thalamic ... ORPHA:529808
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Normochromic... OMIM:610198
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Cerebellar hypoplasia, Chronic neutropenia, Simplified gyral pattern... OMIM:619301
Parkinson Disease, Late-Onset
Parkinsonism, Short stepped shuffling gait, Resting tremor, Dystonia, Bradykinesia, Substantia ni... OMIM:168600
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Spastic tetraplegia, Hyperintensity of cere... ORPHA:1947
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Cerebral atrophy, Hyperhomocystinemia, Homocystinuria, Megaloblastic anemia, Gait disturbance, Hy... OMIM:250940
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Spastic gait, Parkinsonism, Abnormality of the cervical spine, Hy... ORPHA:306511
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Cerebellar atrophy, Dysmetria, Frequent falls, Hand tremor, Sensorineural hearing... OMIM:302800
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Inflammation of the large intestine OMIM:617718
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Inflammation ... OMIM:600903
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar hypoplasia, Gait ataxia, Hypoplasia o... OMIM:224050
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Spinocerebellar Ataxia 19
Cerebellar atrophy, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Truncal ataxia... OMIM:607346
Fragile X-Associated Tremor/Ataxia Syndrome
Dysmetria, Parkinsonism, Abnormal brainstem morphology, Intention tremor, Bradykinesia, Ataxia, G... ORPHA:93256
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Choreoathetosis, Hypochromic anemia, Chorea OMIM:618451
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Cerebral atrophy, Cerebellar hypoplasia, Megaloblastic anemia, Ataxia, Jaundice, He... OMIM:613839
Leber Optic Atrophy And Dystonia
Dystonia, Bradykinesia, Athetosis, Upper motor neuron dysfunction, Scoliosis, Spasticity, Dysphagia OMIM:500001
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Frequent falls, Cerebellar cyst, Mildly elevated creatine kinase, Microcephal... ORPHA:370980
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Cerebellar atrophy, Inability to walk, Ataxia, Microcephaly OMIM:618276
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, High palate, HbH hemoglobin, Microcephaly, Hypospadias ORPHA:98791
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Abnormality of the liver, Hepatomegaly, Microcephaly, Thrombocytopenia ORPHA:1980
Neuroectodermal Melanolysosomal Disease
Cerebral cortical hemiatrophy, Cerebellar hypoplasia, Tremor, Ataxia, Abnormal cerebellar vermis ... ORPHA:33445
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Myoclonic spasms, Dystonia, Ataxia, Unsteady gai... ORPHA:79263
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Hepatomegaly OMIM:618852
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Primary Progressive Freezing Gait
Frequent falls, Shuffling gait, Bradykinesia, Postural tremor, Rigidity, Clonus, Dysphagia, Lewy ... ORPHA:75567
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Rigidity, Myoclonus, Hearing impairment OMIM:619057
Rhombencephalosynapsis
Fusion of the left and right thalami, Septo-optic dysplasia, Tracheoesophageal fistula, Aganglion... ORPHA:59315
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Focal T2 hypointense basal ganglia lesion,... ORPHA:139485
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Progressive cerebellar ataxia, Dysphagia, Abnormal cerebellar peduncle morphology, Cerebellar ver... ORPHA:98
Spinocerebellar Ataxia Type 17
Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign, Parkinsonism, Cerebellar a... ORPHA:98759
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Dysmetria, Action tremor, Frequent falls, Hypoplasia of the corpus callosum, ... ORPHA:93952
Combined Oxidative Phosphorylation Deficiency 45
High palate, Short neck, Low-set ears, Ataxia, Abnormal cerebral white matter morphology, Tremor OMIM:618951
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Choreoathetosis, Pancreatitis, Ataxia, Hepatomegaly, Lethargy, Anemia, Cardiomyopathy... ORPHA:27
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Intestinal atresia, Duodenal atresia ORPHA:3405
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Dysphagia, Waddling gait, Broad-based gait, T... OMIM:182920
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Adult Krabbe Disease
Tetraparesis, Abnormal pons morphology, Abnormal corpus callosum morphology, Frequent falls, Soma... ORPHA:206448
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240071
Acute Disseminated Encephalomyelitis
Cerebral edema, Abnormal pyramidal sign, Somatic sensory dysfunction, Abnormality of the basal ga... ORPHA:83597
Progressive Multifocal Leukoencephalopathy
Dysmetria, Somatic sensory dysfunction, Abnormal astrocyte morphology, Abnormal oligodendroglia m... ORPHA:217260
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Choreoathetosis, Cerebellar vermis atrophy, Inability to walk, Ataxia, M... OMIM:312080
Aicardi-Goutieres Syndrome 3
Cerebral calcification, Hepatosplenomegaly, Progressive microcephaly, Elevated hepatic transamina... OMIM:610329
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Frequent falls, Fasciculations, Impaired vibration sensation in the lower limbs, Steppage gait, A... ORPHA:521411
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Hepatic steatosis, Bifid uvula, Micropenis, Gastroesophagea... ORPHA:2959
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:614727
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Partial agenesis of the ... OMIM:604213
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Abetalipoproteinemia
Abetalipoproteinemia, Fat malabsorption, Ataxia, Acanthocytosis OMIM:200100
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Hyponatremia, Hyposthenuria, Panhypopi... ORPHA:95512
Spinocerebellar Ataxia 7
Dysmetria, Olivopontocerebellar atrophy, Progressive cerebellar ataxia, Spasticity, Dysphagia, Ch... OMIM:164500
Klippel-Trénaunay Syndrome
Microcytic anemia, Abnormal tricuspid valve morphology, Gastrointestinal hemorrhage, Hematuria, A... ORPHA:90308
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Dilated fourth ventricle, Retrocerebellar... OMIM:614831
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibu... ORPHA:216873
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Roussy-Lévy Syndrome
Frequent falls, Somatic sensory dysfunction, Impaired vibratory sensation, Impaired pain sensatio... ORPHA:3115
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Ataxia, Gait ataxia, Dysphagia, Chorea, Ba... OMIM:618093
Autosomal Recessive Ataxia, Beauce Type
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Kyphosis, Impaired v... ORPHA:88644
Myopathy With Extrapyramidal Signs
Dystonia, Perisylvian polymicrogyria, Microcephaly, Clonus, Abnormality of extrapyramidal motor f... OMIM:615673
Hyperphenylalaninemia, Bh4-Deficient, C
Cerebral calcification, Dystonia, Choreoathetosis, Tremor, Hyperphenylalaninemia, Microcephaly, D... OMIM:261630
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Kyphosis, Ataxia, Scoliosis, Gait disturbance, Protruding ear, Cleft palate ORPHA:85317
Bilateral Frontoparietal Polymicrogyria
Cerebellar dysplasia, Abnormal pyramidal sign, Cerebral dysmyelination, Abnormal cerebellum morph... ORPHA:101070
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Portal hypertension, Cirrhosis, Cholangiocarcinoma,... ORPHA:465508
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Cerebellar atrophy, Ataxia, Unsteady gait, Loss of Purkinj... OMIM:616795
Dravet Syndrome
Incoordination, Action tremor, Parkinsonism, Global brain atrophy, Bradykinesia, Cogwheel rigidit... ORPHA:33069
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tr... OMIM:619028
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Progressive cerebellar ataxia, Impaired distal p... ORPHA:137898
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Microcephaly, Rigidity, Spasticity, Hearin... OMIM:612438
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Upper limb spasticity, Spastic dys... ORPHA:320391
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia OMIM:264070
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Cerebral atrophy, Kyphosis, Low-set ears, Cerebellar hypoplasia, Perisylvian polymicrogyria, Inab... OMIM:618443
Parkinsonian-Pyramidal Syndrome
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Intention tremor, Bradykinesia, ... ORPHA:171695
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Impaired pain sensation, Ataxia, Paraparesis, Scoliosis, Gait disturbance, Hearing impa... ORPHA:99014
3P25.3 Microdeletion Syndrome
Sacral dimple, Motor stereotypy, Sensorineural hearing impairment, Cerebral white matter atrophy,... ORPHA:435638
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Renal tubular dysfunction, Hepatomegaly, Lethargy, Neutropenia, Anemia, Chorea, ... ORPHA:289916
Sandhoff Disease
Kyphosis, Splenomegaly, Hepatomegaly, Ataxia, Abnormal glycosphingolipid metabolism, Hearing impa... ORPHA:796
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Atypical Rett Syndrome
Kyphosis, Dystonia, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary movements,... ORPHA:3095
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, High-frequency sensorin... ORPHA:2590
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Kyphosis, Choreoathetosis, Agenesis of corpus callosum, Dystonia, ... OMIM:617988
Cog2-Cdg
Small pituitary gland, Spastic tetraplegia, Decreased circulating ceruloplasmin concentration, De... ORPHA:435934
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cerebral atrophy, Hepatic failure, Leukocytosis, Hypocalcemia, Splenomegaly, Hepato... OMIM:259720
Blue Rubber Bleb Nevus
Microcytic anemia, Gastrointestinal infarctions, Intestinal bleeding, Volvulus ORPHA:1059
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
High palate, Spastic paraplegia, Tremor OMIM:309560
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Leukocytosis, Interface hepatitis, Thrombocytosis, Autoimmune hemolytic anemia, Int... OMIM:243150
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dysmetria, Frequent falls, Agenesis of corpus callosum, Dystonia, Intention tremor, Oculomotor ap... ORPHA:453521
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia, Methylmalonic ... OMIM:277410
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Abnormal pyramidal sign, Kyphosis, Dystonia, Hyperintensity of cerebral white m... ORPHA:500180
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:612016
Waisman Syndrome
Parkinsonism, Resting tremor, Shuffling gait, Bradykinesia, Cogwheel rigidity, Lewy bodies, Megal... OMIM:311510
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... ORPHA:284324
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Cerebellar vermis atrophy, Diffuse cerebellar atrophy, Gait ataxia, ... OMIM:117360
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Abnormal pyramidal sign, Parkinsonism, Cerebellar atrophy, Hypoplasia of the co... OMIM:617672
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Abnormality of the liver, Hemolytic-uremic syndrome, Lethargy,... ORPHA:2169
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Agenesis of corpus callosum, Spastic tetraplegia, Cerebellar hypoplasia, Hypocalcemia, ... OMIM:618476
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver, Increased circulating copper concentr... ORPHA:209919
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Hypertonia, Kyphosis, Blepharospasm, Hyperlordosis, Scoliosis, Torticollis, Wri... OMIM:128100
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia, Hypospadias, Hypoplasia of the corpus callosum OMIM:618972
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Short neck, Kyphosis, Hyperlordosis, Elevated circulating creatine kinase concent... OMIM:300718
Progressive Supranuclear Palsy
Dystonia, Blepharospasm, Bradykinesia, Unsteady gait, Rigidity, Cerebral cortical atrophy, Dyspha... ORPHA:683
Trichohepatoenteric Syndrome 1
Hepatic failure, Bifid uvula, Cholestasis, Abnormality of iron homeostasis, Ventricular septal de... OMIM:222470
Trichohepatoenteric Syndrome 2
Decreased serum iron, Colitis, Hepatomegaly, Hepatitis, Villous atrophy, Cirrhosis OMIM:614602
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebral atrophy, Cerebellar atrophy, Hyponatremia, Gastroesophageal reflux, Ataxia, Microcephaly... OMIM:618426
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Adult-Onset Dystonia-Parkinsonism
Neurofibrillary tangles, Dystonia, Generalized cerebral atrophy/hypoplasia, Focal dystonia, Brady... ORPHA:199351
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Dystonia, Hyperintensity of cer... ORPHA:289494
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Joubert Syndrome 25
Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:616781
Niemann-Pick Disease, Type A
Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:257200
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Dystonia, Intention tremor, Bradykinesia, Lower limb spasticity, ... ORPHA:466722
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Atransferrinemia
Hypochromic anemia, Abnormality of the liver, Atransferrinemia OMIM:209300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Manganese Poisoning
Dystonia, Bradykinesia, Abnormal globus pallidus morphology, Akinesia, Cogwheel rigidity, Postura... ORPHA:306682
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Sideroblastic anemia, Nonprogressive cerebellar ataxia, Dysdiadochokinesis, Hypochromi... OMIM:301310
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Mildly elevated creatine kinase, Ataxia, Microce... ORPHA:401768
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Splenomegaly, Hepatomegaly, Lethargy, Neutropenia, Anemia, Cardiomyopathy, Pancr... ORPHA:79312
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cerebral atrophy, Hyperhomocystinemia, Homocystinuria, Methylmalonic aciduria, Atrial septal defe... OMIM:614857
Hsd10 Disease
Choreoathetosis, Gastrointestinal dysmotility, Hearing impairment, Spastic paraparesis, Ataxia, M... ORPHA:391417
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytosis, Thin corpus callosum, Ventric... OMIM:618278
Spastic Paraplegia 26, Autosomal Recessive
Spastic gait, Dysmetria, Frequent falls, Dystonia, Spastic paraplegia, Ataxia, Lower limb spastic... OMIM:609195
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Impaired proprioception, Impaired vibratory sensation, Hearing impairment, Limb dystoni... ORPHA:319199
Ménétrier Disease
Hypoproteinemia, Gastrointestinal hemorrhage, Giant hypertrophic gastritis, Helicobacter pylori i... ORPHA:2494
Spinocerebellar Ataxia, Autosomal Recessive 31
High palate, Cerebral atrophy, Dystonia, Choreoathetosis, Cerebellar hypoplasia, Ataxia, Bilatera... OMIM:619422
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Ataxia, Conjugated hyperbilirubinemia, Jaundice, Microcephaly, Decreased thal... ORPHA:168577
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, High palate, Hypertriglyceridemia, Primary microcephaly OMIM:618010
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Microcephaly, Abnormal cerebral w... OMIM:614947
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Cerebellar atrophy, Progressive microcephaly, Cerebellar hypoplasia, A... OMIM:616737
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Scoliosis, Diffuse cerebral a... ORPHA:330050
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Abnormal circulating histidine concentration, Truncal ataxia,... ORPHA:210128
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Eosinophilic Gastroenteritis
Eosinophilia, Hematochezia, Abnormality of the gastrointestinal tract, Leukocytosis, Elevated cir... ORPHA:2070
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Cerebellar vermis atrophy, Ataxia, Gait ... ORPHA:1170
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Decreased liver ... ORPHA:512260
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal at... ORPHA:98764
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly, Anemia, Renal insufficiency, Thrombocytopenia ORPHA:2123
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated alpha-fetoprotein, Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Impaired propr... OMIM:606002
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Kyphosis, Ataxia, Unsteady gait, Scoliosis, Protruding ear OMIM:300861
Pseudo-Torch Syndrome 3
Cerebral calcification, Increased circulating ferritin concentration, Leukocytosis, Proteinuria, ... OMIM:618886
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Limb fasciculations, Inability to walk, Elevated circulating creatin... ORPHA:90117
Pyridoxal Phosphate-Responsive Seizures
Hypoargininemia, Abnormal circulating tyrosine concentration, Unsteady gait, Microcephaly, Pyrido... ORPHA:79096
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Hemolytic anemia, Hypertriglyceridemia, Renal insufficiency, Normochromic anemia, De... OMIM:245900
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Spastic Paraplegia 20, Autosomal Recessive
Cerebellar atrophy, Spastic gait, Dysmetria, Upper limb spasticity, Spastic paraparesis, Spastic ... OMIM:275900
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Global brain atrophy, Phonic tics, Dysphagia, Abnormality of extrapyramidal motor funct... OMIM:234200
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Oculogyric crisis, Bradykinesia, Limb hypertonia, Cerebral palsy, Microcephaly, Rigidit... ORPHA:70594
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Parkinsonism, Abnormal lower motor neuron morphology, Dystonia, Neurodegenera... OMIM:614298
Parkinson Disease 1, Autosomal Dominant
Parkinsonism, Dystonia, Resting tremor, Shuffling gait, Bradykinesia, Lewy bodies, Rigidity, Dysp... OMIM:168601
Sitosterolemia 1
Abnormality of the liver, Impaired platelet aggregation, Hypercholesterolemia, Giant platelets, S... OMIM:210250
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase, Proteinuria OMIM:189800
Mednik Syndrome
Intrahepatic cholestasis, Abnormal intestine morphology, Decreased circulating ceruloplasmin conc... ORPHA:171851
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Hyperlipidemia, Fasciculations, Mildly elevated creatine kinase, Degeneration of ant... OMIM:604484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Cerebellar hypoplasia, Inability to walk, Macroglossia, Elevated circulatin... OMIM:613155
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Abnormal corpus callosum morphology, Rhombencephalosynapsis, Abnormal... ORPHA:280195
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Progressive spastic paraplegia, Cerebral atrophy, Kyphosis, Dystonia, Sensorineural hearing impai... ORPHA:464282
Spinocerebellar Ataxia Type 42
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Spastic gait, Resting tremor, C... ORPHA:458803
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Duodenal ulcer, Iron deficiency anemia, Abnormal circulating eicosanoid concentrat... OMIM:618372
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Opisthotonus, Eye of the tiger anomaly of globus pallidus, Generalized dystonia, ... ORPHA:216866
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia... OMIM:609270
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum OMIM:613162
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Cln5 Disease
Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the central nervous system, Inabili... ORPHA:228360
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Spasticity, Hypoplasia of the corpus callosum, Myoclonus, Tremor OMIM:616494
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Abnormal pyramidal sign, Somatic sensory dysfunction, Dystonia, Chore... ORPHA:64753
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... ORPHA:500166
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Syndromic Diarrhea
Hepatoblastoma, Abnormality of iron homeostasis, Polycystic kidney dysplasia, Ventricular septal ... ORPHA:84064