Gene: Ireb2 MGI:1928268

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

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 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.

Human diseases associated with Ireb2 (1 diseases)
Human diseases predicted to be associated with Ireb2 (1812 diseases)

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		Cerebral white matter atrophy, Reduced cerebral white matter volume, Microcytic anemia, Chorea, C...	OMIM:618451

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

Disease	Matching phenotypes	Source
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas...	OMIM:616860
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebra...	ORPHA:521406
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati...	ORPHA:766
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,...	ORPHA:48818
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia, Abnormality of iron homeostasis	ORPHA:75563
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A...	ORPHA:300298
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Parkinsonism, Cerebellar calcifications, Rigidity, Babinski sign, Limb atax...	OMIM:618824
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Atrophy/Degeneration affecting the br...	OMIM:614946
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia, Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dy...	OMIM:618317
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa...	OMIM:300423
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Dysphagia, Gait at...	OMIM:619862
Spinocerebellar Ataxia 17	Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, R...	OMIM:607136
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia, Scoliosis	OMIM:213000
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di...	OMIM:600116
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Limb dystonia, Parkinsonism, Gait ataxia, Bradyk...	ORPHA:71517
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Kyphosis, Unsteady gait, Abnormal pyramida...	OMIM:617435
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Neuroferritinopathy	Caudate atrophy, Writer's cramp, Chorea, Focal dystonia, Parkinsonism, Arm dystonia, Abnormal den...	ORPHA:157846
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst...	OMIM:617013
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scoliosis, Spastic paraparesis, Apra...	OMIM:615157
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Cerebellar calcifications, Chorea, Hand tremor, Athetosis, Thalami...	OMIM:615483
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl...	ORPHA:306692
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Hearing impairmen...	ORPHA:254886
Autosomal Dominant Spastic Paraplegia Type 3	Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle...	ORPHA:100984
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impair...	ORPHA:217012
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre...	ORPHA:248111
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C...	ORPHA:98755
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased s...	ORPHA:98870
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the...	OMIM:609161
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Neuronal loss in central nervous...	OMIM:143100
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br...	ORPHA:210571
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, R...	OMIM:613280
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Spas...	ORPHA:363717
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Torticollis, Hearing impairment, Focal T2 hyperintense thalamic les...	OMIM:613724
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di...	ORPHA:314632
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia	OMIM:617836
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Microcytic anemia, Elevated circulating alanine aminotransferase ...	OMIM:618805
Spinocerebellar Ataxia 2	Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo...	OMIM:183090
Dietary Iron Overload Disease	Hepatic steatosis, Hepatomegaly, Viral hepatitis, Increased circulating ferritin concentration, E...	ORPHA:139507
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Scoliosis, Dystonia, Difficulty walking, Brain a...	ORPHA:306669
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Dysphagia, Bradykin...	OMIM:221820
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia	ORPHA:228169
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici...	OMIM:606159
Aceruloplasminemia	Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, A...	OMIM:604290
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon...	OMIM:611225
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad...	ORPHA:363710
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Hepatic steatosis, V...	ORPHA:101330
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s...	OMIM:618418
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Dystonia 12	Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia	OMIM:128235
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Iro...	ORPHA:329284
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho...	ORPHA:254881
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Dystonia, Elevated circulating creatine kinase concentration, Parkinsonism, I...	OMIM:258450
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo...	OMIM:231100
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyp...	OMIM:128100
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase, Hearing impairment, Distal sensory impairment	OMIM:614369
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,...	OMIM:610185
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi...	OMIM:603516
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Ataxia, T2 hypointense thalamus, Inability to walk, Unsteady gait, Spastic te...	ORPHA:1947
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Hear...	OMIM:300623
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Generalized dystonia, Po...	ORPHA:98808
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Spastic tetraplegia, Inability to walk, Decreased thalamic volume, Dystonia	OMIM:618646
Huntington Disease	Caudate atrophy, Clonus, Involuntary movements, Oral-pharyngeal dysphagia, Rigidity, Inability to...	ORPHA:399
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Ocul...	ORPHA:467166
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegen...	OMIM:615643
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho...	OMIM:603358
Infantile Dystonia-Parkinsonism	Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, A...	ORPHA:238455
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno...	ORPHA:240103
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Diffuse cerebral atrophy, Clonus, Decreased thalamic volume, Hypoplasia of the brainstem, Hyperto...	OMIM:613668
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Bradyki...	OMIM:261640
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Microcephaly, Periventric...	OMIM:619013
Sandhoff Disease, Adult Form	Dystonia, Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia...	ORPHA:309169
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Hypoplasia of the pons, Rigid...	ORPHA:98760
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria...	OMIM:618387
Leber Optic Atrophy And Dystonia	Dysphagia, Bradykinesia, Athetosis, Scoliosis, Dystonia, Spasticity, Upper motor neuron dysfunction	OMIM:500001
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia...	OMIM:617854
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Spinal Muscular Atrophy, Jokela Type	Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Fasciculat...	OMIM:615048
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Babinski sign...	OMIM:300055
Cach Syndrome	Cerebellar atrophy, T2 hypointense thalamus, Atrophy/Degeneration affecting the brainstem, Nonket...	ORPHA:135
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Villous atrophy, Microcytic ...	ORPHA:398063
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Kyphosis, Babinski sign,...	OMIM:614409
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Unsteady gait, Midline brainstem cleft, Hemiparesis, Scoliosis, Fusion of...	OMIM:617542
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Clumsiness, Ga...	ORPHA:98768
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Incoordination, Ataxia, Dystonia, Sensorineural hearing impairment, Truncal ataxia, Dysmetria, Ga...	OMIM:601338
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ...	ORPHA:446
Coasy Protein-Associated Neurodegeneration	Parkinsonism, Difficulty walking, Spastic paraparesis, Oromandibular dystonia, Abnormal thalamus ...	ORPHA:397725
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:79230
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor...	ORPHA:240085
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par...	OMIM:109150
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Hepatomegaly, Abnormal blood inorganic cation concentration...	ORPHA:309854
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Protruding tongue, Chorea, Torsion ...	ORPHA:53351
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Cerebral atrophy,...	OMIM:617916
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Chorea, Ataxia	OMIM:618683
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia, Elevated circulating C-reactive protein concentration	OMIM:619398
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Abnormality of glycolipid metabolism, Tremor, Dysmetria, Dec...	ORPHA:845
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Partial agenesis of the corpus callosum, Simplified gyral pattern, Anemia, H...	OMIM:619302
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin...	OMIM:619911
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagi...	OMIM:302500
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,...	ORPHA:99750
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Impaired vibration sen...	OMIM:159550
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia...	OMIM:616291
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, T2 hypointense thalamus, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Ce...	OMIM:618193
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Loss of ability to walk in early childhood, Elevated circulating creatine...	OMIM:612073
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Microcephaly, Increased circulating...	OMIM:600462
Copper Deficiency, Familial Benign	Decreased circulating copper concentration, Anemia	OMIM:121270
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait	OMIM:619052
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Bradykinesia, Frontotemporal cerebr...	ORPHA:412066
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si...	OMIM:606693
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concen...	OMIM:619405
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Rigidity, Tremor, Cerebral atrophy, Bradyki...	OMIM:300894
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Ri...	ORPHA:227510
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Lower limb spasticity, Tongue atrophy, Kyphoscoliosis, Babinski sign, Cerebra...	ORPHA:496689
Srd5A3-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Decreased response to growth hormone s...	ORPHA:324737
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Childhood-Onset Nemaline Myopathy	Waddling gait, Spinal rigidity, Neuromuscular dysphagia, Increased muscle lipid content, Clumsine...	ORPHA:171439
Mitochondrial Membrane Protein-Associated Neurodegeneration	Abnormal substantia nigra morphology, Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremo...	ORPHA:289560
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Head titubation, Tremor, Rigidity, Inability to walk, Cerebral atrophy, G...	OMIM:618877
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra...	ORPHA:13
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, My...	OMIM:615924
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath...	OMIM:619046
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetri...	OMIM:611302
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Malaria	Elevated circulating C-reactive protein concentration, Anemia, Gait imbalance, Hyperbilirubinemia...	ORPHA:673
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis, Hearing impairment	ORPHA:101075
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor,...	OMIM:208920
Postencephalitic Parkinsonism	Resting tremor, Abnormal substantia nigra morphology, Camptocormia, Involuntary movements, Oculog...	ORPHA:97349
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Dystonia, Limb hyper...	OMIM:617384
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys...	ORPHA:240094
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,...	OMIM:602390
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Cerebral white matter atrophy, Reduced cerebral white matter volume, Microcytic anemia, Chorea, C...	OMIM:618451
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Increased muscle lipid content, Bradykinesia, Poor fine motor coordinati...	ORPHA:171442
Familial Benign Copper Deficiency	Decreased circulating copper concentration, Anemia	ORPHA:1551
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Leigh Syndrome	Chorea, Gastrointestinal dysmotility, Choreoathetosis, Encephalomalacia, Complex organic aciduria...	ORPHA:506
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Hematochez...	OMIM:617718
Huppke-Brendel Syndrome	Cerebellar atrophy, Decreased circulating ceruloplasmin concentration, Decreased circulating copp...	OMIM:614482
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Scoliosis, Difficu...	OMIM:614018
Multiple System Atrophy	Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p...	ORPHA:102
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrho...	ORPHA:79278
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Lumbar hyperlordosis, Elevated ci...	ORPHA:370959
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas...	OMIM:612953
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykine...	ORPHA:225147
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume, Hypoplasia of the brainstem, High palate, Cerebellar hypoplasia, Low-s...	OMIM:619072
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I...	OMIM:616756
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi...	ORPHA:276435
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainste...	OMIM:619301
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis, Hearing impairment	ORPHA:101078
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Parkinsonism With Polyneuropathy	Resting tremor, Diffuse cerebral atrophy, Rigidity, Bradykinesia, Parkinsonism with favorable res...	OMIM:619279
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal ...	OMIM:610743
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl...	OMIM:137440
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p...	ORPHA:98933
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Hypospadias, Ataxia, Elevated circulating aspartate aminotransferas...	OMIM:610198
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity...	OMIM:616719
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar dysplasia, Dilated fourth ventricle, Ataxia, Elevated circulating creatine kinase conc...	ORPHA:370022
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Increased circulating ferritin concentration, Vestibular areflexia, Hyp...	ORPHA:3240
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Thoracic scoliosis, Cerebellar vermis hypoplasia, Torticollis, Kyphoscoliosis, In...	ORPHA:300570
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Babinski sign, Protein-losing enteropathy, Hyperglycinemia	OMIM:619063
Combined Oxidative Phosphorylation Defect Type 7	Thoracic scoliosis, Ataxia, Oral-pharyngeal dysphagia, Abnormal brainstem MRI signal intensity, I...	ORPHA:254930
Cln3 Disease	Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Generalized cerebral ...	ORPHA:228346
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyper...	OMIM:617404
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Postural tremor, Impaired distal proprioception, Abnormal cerebellum morph...	OMIM:270800
Oculoskeletodental Syndrome	Hypercalcemia, Hyperlordosis, Sensorineural hearing impairment, Thoracic kyphosis, Hypocalcemia, ...	ORPHA:557003
Japanese Encephalitis	Hyponatremia, Abnormal substantia nigra morphology, Weakness due to upper motor neuron dysfunctio...	ORPHA:79139
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Hig...	OMIM:619750
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Microcephaly, Dysplastic corpus callosum, Lacticaciduria, Renal hypop...	OMIM:604273
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Very long chain fatty acid accumulation, Ataxia, Tremor, Sensorineural hearin...	OMIM:614867
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph...	ORPHA:2585
Peroxisome Biogenesis Disorder 8B	Very long chain fatty acid accumulation, Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambu...	OMIM:614877
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Intestinal pseudo-obstruction, Impaired distal proprioception, Abno...	ORPHA:70595
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Generalized cerebral ...	ORPHA:36387
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Mitochondrial Dna Depletion Syndrome 18	Falls, Lacticaciduria, Microcytic anemia	OMIM:618811
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Cerebellar hypoplasia, Limb dystonia, Hearing impairment	OMIM:620270
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,...	OMIM:618090
Dilated Cardiomyopathy With Ataxia	Bilateral basal ganglia lesions, Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Micr...	ORPHA:66634
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Poor motor coordination, Parkinsonism, Cerebral atrophy, Clumsiness, Poor fin...	ORPHA:79264
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Methylmalonic...	OMIM:236270
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Elevated circulating C-reactive protein concentration, Dysplastic corpus callosum, ...	OMIM:619423
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Broad-based gait, Elevated circulating creatine kinase conc...	OMIM:615290
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Ina...	OMIM:618276
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem MRI signal intensity, Rigidity, Abnormal brainstem morphology, Spastic tetrapl...	ORPHA:88619
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Myoclonus, Hearing impairment	OMIM:619057
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Micro...	OMIM:251900
Spinocerebellar Ataxia Type 2	Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce...	ORPHA:98756
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Impai...	ORPHA:251282
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum, Thrombocytopenia	OMIM:166990
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Clumsiness, Abnormal circulating creatine kinase...	ORPHA:521411
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Splenomegaly, Microcytic anemia	OMIM:618852
Spinocerebellar Ataxia 48	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Anemia, Intestinal atresia	ORPHA:3405
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Dystonia, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebr...	OMIM:610217
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Cerebra...	OMIM:607250
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Thrombocytopenia, Hyperammonemia, C...	ORPHA:27
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Rigidity, Dysesthesia, Abnormal brainstem morphology, Dysmetria, Gait ataxi...	ORPHA:93256
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal pyramidal sign,...	ORPHA:240071
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Atrial septal defect, Absent septum pellucidum, Microcephaly, Microvesicular hepati...	OMIM:300868
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Decreased proportion of CD8-positive ...	ORPHA:217260
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Cleft palate, Protruding ear, Gait disturbance, Scoliosis	ORPHA:85317
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia,...	OMIM:168600
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:613643
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Fusion of the cerebellar hemispheres, Agenesis of cerebellar v...	ORPHA:59315
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga...	OMIM:616127
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Degeneration of anterior horn cells, ...	OMIM:159950
Roussy-Lévy Syndrome	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai...	ORPHA:3115
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho...	ORPHA:79263
Abetalipoproteinemia	Fat malabsorption, Abetalipoproteinemia, Ataxia, Acanthocytosis	OMIM:200100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ...	OMIM:117360
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Abnormal lower motor neuron morphology, High-frequency sensorineural hearing impai...	ORPHA:2590
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Writer's cramp, Involuntary move...	ORPHA:98759
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Tongue atrophy, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, F...	ORPHA:216873
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical atrophy, Ce...	ORPHA:33445
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Cerebral calcification, Akinesia, Microcephaly, Hy...	OMIM:619147
Dravet Syndrome	Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina...	ORPHA:33069
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Microcytic anemia, Dysphagia, Polymi...	OMIM:612379
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Inability to walk, Dysplastic corpus callosum, Unst...	OMIM:620317
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop...	OMIM:604213
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Microcephaly, Microcytic anemia, High palate, HbH hemoglobin	ORPHA:98791
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Chorea, Hyperammonemia, Renal tubular dysfun...	ORPHA:289916
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis, Hear...	ORPHA:99014
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Sensorineural hearing impairment, Babins...	OMIM:302800
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Broad-based gait, Neoplasm of the pancreas, Hyp...	ORPHA:2959
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl...	OMIM:619028
Primary Progressive Freezing Gait	Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Shuffling gait, D...	ORPHA:75567
Sandhoff Disease	Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Abnormal glycosphingolipid metabolism, Hearing impa...	ORPHA:796
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Rigidity, Bradykinesia	ORPHA:306686
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J...	OMIM:603552
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Increased circ...	ORPHA:465508
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s...	ORPHA:93952
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he...	OMIM:243150
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Prolonged neonatal jau...	ORPHA:529808
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Scoli...	ORPHA:330050
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Kypho...	ORPHA:466722
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Prolonged neonatal jau...	ORPHA:529799
Blue Rubber Bleb Nevus	Gastrointestinal infarctions, Intestinal bleeding, Volvulus, Microcytic anemia	ORPHA:1059
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, ...	OMIM:620158
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Joubert Syndrome 25	Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Cerebellar hypoplasia	OMIM:616781
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Adenohypophysitis	Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency...	ORPHA:95512
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuf...	OMIM:168601
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e...	OMIM:619991
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Truncal ataxia, Dysmetria, Gait...	OMIM:210000
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Malabsorption, Basal ganglia calcification, Athet...	OMIM:229050
Panhypophysitis	Hyponatremia, Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency...	ORPHA:95513
Pelizaeus-Merzbacher Disease	Broad-based gait, Ataxia, Reduction of oligodendroglia, Cerebral dysmyelination, Microcephaly, In...	OMIM:312080
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Cerebral atrophy, Increased m...	OMIM:613839
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Megaloblastic anemia, Cerebral atrophy, Hyperhomocystinemia, Gait disturbance,...	OMIM:250940
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Rett Syndrome	Increased serum pyruvate, Limb apraxia, Inability to walk, Hyperammonemia, Bradykinesia, Gait dis...	ORPHA:778
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Choreoathetosi...	ORPHA:79312
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Parkinsonian-Pyramidal Syndrome	Substantia nigra gliosis, Dystonia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sig...	ORPHA:171695
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Dysphagia, Gait ataxia, Limb ataxia, Cogwheel rigidity, Prog...	OMIM:607346
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Microcephaly, Microcytic anemia, Hematuria, Abnormal t...	ORPHA:90308
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Atransferrinemia	OMIM:209300
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Protruding ear, Scoliosis	OMIM:300861
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:614727
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Kyphosis, Babins...	ORPHA:88644
Progressive Supranuclear Palsy	Dystonia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dysphagia, Neurona...	ORPHA:683
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di...	ORPHA:98764
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ...	ORPHA:2070
Trichohepatoenteric Syndrome 1	Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hypospadias, Incre...	OMIM:222470
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Ga...	OMIM:615530
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Dysmetria, Hypochromic microcytic anemia, Dysdiadochokinesis, Nonprogressiv...	OMIM:301310
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Combined Oxidative Phosphorylation Deficiency 45	Ataxia, Short neck, Tremor, High palate, Low-set ears	OMIM:618951
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Hyperphenylalaninemia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia	OMIM:261630
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dysphagia, Postlingual sensorineural hearing impairment, Dystonia, Progressiv...	OMIM:304700
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Cog2-Cdg	Diffuse cerebral atrophy, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:435934
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellula...	OMIM:612016
3P25.3 Microdeletion Syndrome	Sacral dimple, Ataxia, High, narrow palate, Pyloric stenosis, Sensorineural hearing impairment, C...	ORPHA:435638
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Acute Disseminated Encephalomyelitis	Viral hepatitis, Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal brainstem M...	ORPHA:83597
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Diffuse cerebral atrophy, Decreased circulating ceruloplasmin conc...	OMIM:617395
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Dystonia, Elevated circulating creatine kinase concentration, Elevated circul...	OMIM:606002
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Distal sensory impairment, Difficulty walking, Scoliosis, Hearing impairment	OMIM:617087
Urocanic Aciduria	Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax...	ORPHA:210128
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr...	OMIM:617810
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Cerebral calcification, Microcephaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Cerebral calcification, Microcephaly, Splenomegaly, Loss of ambul...	OMIM:615010
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Dystonia, Ataxia, Elevated circulating creatine kinase concentration...	ORPHA:64753
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Dystonia, Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, ...	ORPHA:500180
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic move...	OMIM:619738
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d...	OMIM:614898
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Bradykinesia, Lower limb spasticity	OMIM:618878
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosis, Dystonia, Reduced haptoglobin level	OMIM:612126
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated...	OMIM:615673
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho...	OMIM:300718
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Cerebral calcification, Hepatosplenomegaly, Abnormal cerebral whit...	OMIM:610329
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Scoliosis, Spasticit...	OMIM:609260
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Scoliosis, Spastic para...	ORPHA:101077
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Hypertriglyceridemia, High palate, Primary microcephaly	OMIM:618010
Pancreatic Colipase Deficiency	Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi...	ORPHA:309108
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Abnormal medulla obl...	ORPHA:206448
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Thrombocytopenia	ORPHA:2123
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba...	OMIM:609270
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Mitochondrial Dna Depletion Syndrome 19	Hypospadias, Hypoplasia of the corpus callosum, Microcytic anemia	OMIM:618972
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ...	ORPHA:199351
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Microcephaly, Hemolytic-uremic syndrome, Hype...	ORPHA:2169
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi...	ORPHA:1170
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ...	OMIM:618372
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Elevated circulating alpha-fe...	OMIM:616267
Stxbp1-Related Encephalopathy	Inability to walk, Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia	ORPHA:599373
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Cerebral ...	OMIM:614857
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit...	ORPHA:90117
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Proteinuria, Thrombocytopenia	OMIM:189800
Manganese Poisoning	Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyram...	ORPHA:306682
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia, Kyphoscoliosis	OMIM:619099
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Li...	ORPHA:3095
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ...	ORPHA:182050
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym...	ORPHA:84064
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,...	OMIM:615491
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py...

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us