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
Hypochromic anemia, Reduced cerebral white matter volume, Microcytic anemia, Chorea, Cerebral whi... OMIM:618451

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate... OMIM:615234
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Loss of ambulation, Babin... ORPHA:521406
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... ORPHA:766
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... ORPHA:98762
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Impaired distal vibration sensation, Incoordination, Postural tremor,... OMIM:128230
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Basal Ganglia Calcification, Idiopathic, 1
Cerebellar dentate nucleus calcification, Athetosis, Chorea, Limb dysmetria, Tremor, Rigidity, Dy... OMIM:213600
Aceruloplasminemia
Parkinsonism, Torticollis, Ataxia, Decreased circulating ceruloplasmin concentration, Decreased c... ORPHA:48818
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,... ORPHA:75563
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Cerebellar dentate nucleus calcification, Chorea, Dysmetria, Thalamic calcification, Dystonia, Pa... OMIM:618317
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:300298
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Babinski sign, Parkinsonism, Hyperton... OMIM:618824
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi... OMIM:160120
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Increased hepatic... OMIM:614946
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Falls, Resting tremo... OMIM:617225
Cerebellar Ataxia, Cayman Type
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Dystonia, Ataxia, Trunc... OMIM:601238
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ... OMIM:300423
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice OMIM:613977
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Ga... OMIM:619862
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Myoclonus, Dysm... OMIM:607136
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Scoliosis, Tremor, Ataxia OMIM:213000
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston... ORPHA:71517
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor... OMIM:617435
Neuroferritinopathy
Resting tremor, Difficulty walking, T2 hypointense thalamus, Parkinsonism, Bradykinesia, Dysphagi... ORPHA:157846
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-toe gait, Cerebral atrop... OMIM:617013
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Extramedullary hematop... ORPHA:231222
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc... ORPHA:848
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Hearing impairment, Incoordination, Neurodegeneration, Parap... OMIM:615157
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi... OMIM:609161
Basal Ganglia Calcification, Idiopathic, 5
Hand tremor, Postural tremor, Chorea, Parkinsonism, Cerebellar calcifications, Athetosis, Thalami... OMIM:615483
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... OMIM:617018
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, R... ORPHA:306692
Autosomal Dominant Spastic Paraplegia Type 3
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Rigidity, Ankle clonus, Babinski sign,... ORPHA:100984
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hearing impairment, Gait ataxia, Tr... ORPHA:217012
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, ... ORPHA:248111
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Paresthesia, Cogwheel r... ORPHA:254886
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:98870
Spinocerebellar Ataxia 37
Cerebellar atrophy, Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... ORPHA:53693
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Spastic paraparesis, Decreased liver fun... OMIM:613280
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Neuronal loss in central nervous system, Brady... OMIM:143100
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Alexander Disease Type I
Spasticity, Cerebellar atrophy, Abnormal pyramidal sign, Dysphagia, Ataxia, Scoliosis, Abnormal t... ORPHA:363717
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Loss of Purkinje cells in the cerebellar vermis, Cerebellar atroph... ORPHA:98755
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Dystonia 31
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... OMIM:619565
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ... ORPHA:314632
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor ORPHA:423296
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Bradykinesia OMIM:617836
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, ... OMIM:618805
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Cerebral cortical hemiatrophy, B... ORPHA:306669
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Unsteady gait, Bradykinesia, Dysphagia, Progress... OMIM:183090
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Hearing impairment, Head tremor, Focal T2 hyperintense thalamic les... OMIM:613724
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Rigidity, Parkinso... OMIM:221820
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Positive Romberg sign, Poikilocytosi... OMIM:301310
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Gait disturbance, Bradykinesia, Dysphagia, Dysdiadochokinesis ORPHA:228169
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Decreased circulating f... OMIM:606159
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Lower limb spasticity, Gait d... OMIM:611225
Aceruloplasminemia
Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl... OMIM:604290
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly,... OMIM:606069
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... ORPHA:363710
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatom... ORPHA:100025
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Dystonia, Babinski sign, Gait disturbance, Lower limb spasticity... OMIM:618418
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dystonia, Parkinsoni... ORPHA:329284
Dystonia 12
Bradykinesia, Tremor, Dystonia, Parkinsonism, Torticollis, Unsteady gait, Dysphagia OMIM:128235
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Abnormal posturing, Incoord... ORPHA:157941
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel ... OMIM:600116
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Postural tremor, Myoclonus, Gait ataxia, Limb dystonia, ... ORPHA:101150
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Focal T2 hyperintense thalamic lesion, Myoclonus, Gait ataxia, Dysmetria, ... ORPHA:254881
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short stepped shuffling gait, Shuffling gait, Frontotemporal cerebral atrophy, Falls, Diffuse cer... ORPHA:412066
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe... OMIM:615957
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Intention tremor, Sensorineu... OMIM:258450
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment, Mildly elevated creatine kinase, Hearing impairment OMIM:614369
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... OMIM:610185
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Torsion dystonia, Generalized dystonia, In... OMIM:128100
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Hearing impairment, Postural tr... OMIM:300623
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Huntington Disease
Involuntary movements, Degeneration of the striatum, Abnormal circulating cholesterol concentrati... ORPHA:399
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Dystonia, Decreased thalamic volume, Spastic tetraplegia OMIM:618646
Autosomal Dominant Dopa-Responsive Dystonia
Hearing impairment, Generalized dystonia, Abnormal substantia nigra morphology, Impaired vibratio... ORPHA:98808
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal thalamus morphology, Abnormal brai... ORPHA:467166
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Neurodegeneration, Rigidity, Dystonia, Gait disturbance, Oroma... OMIM:615643
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo... OMIM:619013
Infantile Dystonia-Parkinsonism
Gastroesophageal reflux, Oculogyric crisis, Cerebral palsy, Chorea, Dystonia, Parkinsonism, Abnor... ORPHA:238455
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Spasticity, Decreased thalamic volume, Hypoplasia of the brainstem, Diffuse cerebral atrophy, Clo... OMIM:613668
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Hyperphenylalaninemia, Limb hypertonia, Hypertonia, Ata... OMIM:261640
Sandhoff Disease, Adult Form
Spasticity, Fasciculations, Gait ataxia, Tremor, Elevated circulating creatine kinase concentrati... ORPHA:309169
Spinocerebellar Ataxia Type 8
Ataxia, Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cer... ORPHA:98760
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait ataxia, T2 hypointense thalamus, Cl... ORPHA:1947
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Distal sensory... OMIM:603516
Gracile Syndrome
Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul... OMIM:603358
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Elevated circulating creat... OMIM:618387
Leber Optic Atrophy And Dystonia
Spasticity, Dystonia, Dysphagia, Upper motor neuron dysfunction, Bradykinesia, Athetosis, Scoliosis OMIM:500001
Caribbean Parkinsonism
Cerebral cortical atrophy, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia,... ORPHA:97355
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor, Elevated circulating creat... OMIM:615048
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Gastroesophageal reflux, Inability to walk, Myoclonus, High palate,... OMIM:617854
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, High palate, Tremor, Kyp... OMIM:300055
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Elevated circulating C-react... OMIM:604416
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Hearing impairment, Difficulty walking, Limb ataxia, Myoclonus, Gait ataxia, ... ORPHA:98768
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
Cach Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Hepatosplenomegaly, ... ORPHA:135
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft, Hemiparesi... OMIM:617542
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Hearing impairment, Hand tr... OMIM:614409
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Protein-losing enteropathy, Elevated circulating hepatic tran... ORPHA:398063
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
Coasy Protein-Associated Neurodegeneration
Spastic paraparesis, Abnormal thalamus morphology, Difficulty walking, Parkinsonism, Oromandibula... ORPHA:397725
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... OMIM:109150
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:79230
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... OMIM:615768
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response ... ORPHA:240085
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Hyperglycinemia, Action tremor, Hepatomegaly, Jaundice, ... ORPHA:309854
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... OMIM:612067
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Chorea, Bradykinesia, Ataxia OMIM:618683
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticit... OMIM:617916
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsiness, Park... OMIM:619911
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... OMIM:302500
Tay-Sachs Disease
Hearing impairment, Incoordination, Dysphagia, Poor fine motor coordination, Global brain atrophy... ORPHA:845
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of gait, Rigidit... ORPHA:99750
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Cerebellar atrophy, Impaired vibration sensati... OMIM:159550
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... OMIM:616291
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Increased circulating ferritin concentration, Microcytic anemia, Sideroblasti... OMIM:600462
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Cerebral cortical atrophy, Myoclonus, T2 hypointense thalamus, Babinski sign, Apraxia, Gait distu... OMIM:618193
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Thrombocytopenia... OMIM:619302
Srd5A3-Cdg
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Microcytic anemia, D... ORPHA:324737
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Arm dystonia, Progressive sensorineural hearing impairment, Hearing impairment, Episodic ataxia, ... OMIM:601338
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Gastroesophageal reflux, Methylmalonic aciduria, Cerebral atrophy, Microcytic anem... OMIM:612073
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Bradykinesia OMIM:619052
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,... OMIM:606693
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Cogwheel rigidity, Ankl... ORPHA:363654
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration OMIM:121270
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Ab... OMIM:607317
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Kyphosis, Resting tremor, Abnormal substantia nigra mor... ORPHA:97349
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Abnormal substantia nigra morpholog... ORPHA:289560
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R... OMIM:300894
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Neuromuscular dysphagia, Resting tremor, Postural tremor, Limb ataxia, Gait ata... ORPHA:227510
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Cerebral atrophy, Inability to walk, Myoclonus, Gait ataxia, Tremor, R... OMIM:618877
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abno... ORPHA:13
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Hypochromic anemia, Reduced cerebral white matter volume, Microcytic anemia, Chorea, Cerebral whi... OMIM:618451
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, N... OMIM:615924
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Elevated circulating creatine kinase con... OMIM:619405
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, Abnormality of ext... OMIM:615362
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... OMIM:611302
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Subcortical white matter calcifications, Cerebellar... ORPHA:3240
Childhood-Onset Nemaline Myopathy
Spinal rigidity, Neuromuscular dysphagia, Difficulty walking, Increased muscle lipid content, Clu... ORPHA:171439
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U... ORPHA:314978
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Hearing impairment, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101075
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Focal T2 hyperintense thalamic lesion, Splenomegaly, Macrocytic anemia, Hyperprol... OMIM:619046
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Oculogyric crisis, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Bradyki... OMIM:617384
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... OMIM:604326
Malaria
Acute kidney injury, Gait imbalance, Hyperbilirubinemia, Elevated circulating C-reactive protein ... ORPHA:673
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment,... OMIM:208920
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinase concentration, Loss o... OMIM:614018
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration ORPHA:1551
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle, Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinso... OMIM:619725
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Tremor, Ataxia OMIM:616187
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Colonic eosino... OMIM:617718
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Huppke-Brendel Syndrome
Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Inability to walk, Decreased circulatin... OMIM:614482
Hemochromatosis, Type 2A
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... OMIM:602390
Huntington Disease-Like 2
Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Dystonia, Bradykinesia OMIM:606438
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Microcytic anemia, Abnormal circulating porphyrin conce... ORPHA:79278
Leigh Syndrome
Neuronal loss in basal ganglia, 3-Methylglutaconic aciduria, Agenesis of corpus callosum, Ventric... ORPHA:506
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Parkinsonism-Dystonia 1, Infantile-Onset
Gastroesophageal reflux, Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rig... OMIM:613135
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal brainste... ORPHA:370959
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor... OMIM:612953
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Abnormal posturing, Hemiplegia, Cho... ORPHA:225147
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Difficulty walking, Increased muscle lipid content, High palate, Bradyki... ORPHA:171442
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Low-set ears, Cerebral cortical atrophy, Decreased thalamic volume, Hypoplasia of the brainstem, ... OMIM:619072
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis OMIM:607458
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Central nervous system degeneration, Progressive extrapyramidal muscular ri... ORPHA:282166
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Cerebral atrophy, Inability to walk, Lumbar hyperlordosis, Sensorineural hearin... OMIM:616756
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Hearing impairment, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Parkinsonism With Polyneuropathy
Resting tremor, Rigidity, Diffuse cerebral atrophy, Parkinsonism with favorable response to dopam... OMIM:619279
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Abnormal... OMIM:610743
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dysto... OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Spasticity, Impaired pain sensation... OMIM:616719
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Dilated cardiomyopathy, Normochromic microcytic anemia, Elevated circu... OMIM:610198
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsoni... OMIM:137440
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:98933
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Combined Oxidative Phosphorylation Defect Type 7
Spastic paraparesis, Oral-pharyngeal dysphagia, Difficulty walking, Inability to walk, Distal sen... ORPHA:254930
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal b... ORPHA:370022
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Cerebellar vermis hypoplasia, Spasticity, Abnormal thalamus morphology, Hypoplasia ... ORPHA:300570
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Babinski sign, Bradykinesia, Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Elevated circulating creatine k... ORPHA:276435
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Pain insensitivity, Global brain atrophy, Cerebellar vermis atrophy, Impaired vi... ORPHA:94124
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Tremor, Ataxia, Generalized cerebral atrophy/hypoplasia, Bradykinesia, Poor fine ... ORPHA:36387
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... ORPHA:98763
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Elevated circulating creatine kinase concentration, Lower limb spasticity, Gait dis... OMIM:617404
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia, Falls, Elevated urinary quinolinic acid level, Lacticaciduria OMIM:618811
Oculoskeletodental Syndrome
Conductive hearing impairment, Hearing impairment, Abnormal thalamus morphology, Hypocalcemia, Se... ORPHA:557003
Japanese Encephalitis
Abnormal midbrain morphology, Pill-rolling tremor, Abnormal thalamus morphology, Abnormal substan... ORPHA:79139
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Elevated circulating amyloid A concentration, Elevated cir... OMIM:619750
Beta-Thalassemia Major
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231214
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Dysplastic corpus cal... OMIM:604273
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo... OMIM:619301
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Abnormal circulating cholesterol concentration, Impaired vibration sensation ... OMIM:270800
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, ... ORPHA:2585
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Very long cha... OMIM:614877
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Decreased liver function, Elevated circulating phytanic acid concentration, D... OMIM:614867
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Atrophy/Degeneration involving the spinal cord, Intestinal pseudo-o... ORPHA:70595
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... OMIM:206200
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Dilated Cardiomyopathy With Ataxia
Ataxia, Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric ac... ORPHA:66634
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor a... OMIM:617145
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Tip-toe gait, Fasciculations, Elevated circulating creatine kinase concentratio... OMIM:615290
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Limb dystonia, Tremor, Cerebellar hypoplasia, Ataxia OMIM:620270
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Cerebral atrophy, Head tremor, Impaired vibration sensation in the lower limbs, Gait ... ORPHA:352641
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum, Elevated circulating C-reactive protein conce... OMIM:619423
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... ORPHA:86841
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Cerebellar atrophy, Cerebral atrophy, Focal T2 hyperintense thalamic les... ORPHA:79264
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Homocystinuria, Cerebral cortical atrophy, Methylmalonic aciduria, Cerebral at... OMIM:236270
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Hypoplasia of the pons, Inability to walk, Dysplastic corpus callosum, Microc... OMIM:618276
Familial Acute Necrotizing Encephalopathy
Spasticity, Abnormal thalamus morphology, Abnormal brainstem morphology, Rigidity, Gait disturban... ORPHA:88619
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Combined Oxidative Phosphorylation Deficiency 51
Hearing impairment, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Myoclonus, Rigidity OMIM:619057
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetr... OMIM:618090
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, Difficulty walking, 3-Methylglutaconic aciduria, Elevated circulati... OMIM:251900
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Fasciculations, Abnormal substantia nigra morphology, Chorea, Postural... ORPHA:98756
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Inability to walk, Elevated circulating aspartate amin... OMIM:257200
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Hepatomegaly, Splenomegaly OMIM:618852
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, ... OMIM:618093
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Intestinal atresia, Duodenal atresia ORPHA:3405
Roussy-Lévy Syndrome
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Difficulty wa... ORPHA:3115
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration, Fasciculations, Impaired vibration sensation in the lo... ORPHA:521411
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Distal senso... OMIM:607250
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Hepatomegaly,... ORPHA:27
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Intenti... OMIM:610217
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Abnormal brainstem morphology, Gait ataxia... ORPHA:93256
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Akin... ORPHA:240071
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... ORPHA:79263
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Decreased proportion of CD8-positive T cells, Abnormal astrocyte mor... ORPHA:217260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Lateral ventricle dilatation, Secondary microcephaly, Vesicoureteral r... OMIM:300868
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Nephropathy, Inflammation of the large intestine, Decreased propo... OMIM:301000
Spinocerebellar Ataxia 7
Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig... OMIM:164500
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cerebellar atrophy, Protruding ear, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Cleft palate ORPHA:85317
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, High-frequency sensorineural hearing impairment, Difficulty walking, Inability to... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Dravet Syndrome
Global brain atrophy, Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Prog... ORPHA:33069
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Fusion of the left and right thalami, Fusion of the cerebellar... ORPHA:59315
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Elevated circulating creatine kinas... OMIM:159950
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... OMIM:609628
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Dystonia,... ORPHA:98759
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Spasticity, Focal dystonia, Chorea, Limb dystonia, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, C... ORPHA:397946
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My... OMIM:256731
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Rigidity, Dystonia, Substantia nigra gliosi... OMIM:168600
Congenital Disorder Of Glycosylation, Type Iq
Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concentration, Polymicrog... OMIM:612379
Neuroectodermal Melanolysosomal Disease
Cerebral cortical atrophy, Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Cerebral cortical... ORPHA:33445
Joubert Syndrome 25
Cerebellar hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI, Ataxia OMIM:616781
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Leukoencephalopathy, Akinesia, Cerebral calcification, Renal insufficiency, Microcephaly, Hyperal... OMIM:619147
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Inability to walk, Secondary microceph... OMIM:620317
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Microcephaly, High palate, Hypospadias ORPHA:98791
Chudley-Mccullough Syndrome
Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dysplastic corpus callos... OMIM:604213
Sandhoff Disease
Hearing impairment, Splenomegaly, Abnormal glycosphingolipid metabolism, Ataxia, Hepatomegaly, Ky... ORPHA:796
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Broad-based gait, Elevated circulating hepatic transaminase concentration, Gastroeso... ORPHA:2959
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Hearing impairment, Tremor, Gait disturbance, Paraparesis, Ataxia, Scoli... ORPHA:99014
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At... OMIM:619028
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory... OMIM:302800
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hepatomegaly, Lethargy, P... ORPHA:289916
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Interface hepa... OMIM:243150
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria... ORPHA:93952
Primary Progressive Freezing Gait
Cerebral cortical atrophy, Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, R... ORPHA:75567
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Tremor, Diffuse cer... ORPHA:330050
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Progressive spastic paraplegia, Myoclonus, Paroxysmal dystonia, Kyphosco... ORPHA:466722
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, ... ORPHA:465508
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Proteinuria, Thrombocytopen... OMIM:615008
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529799
Blue Rubber Bleb Nevus
Microcytic anemia, Gastrointestinal infarctions, Intestinal bleeding, Volvulus ORPHA:1059
Behr Syndrome
Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance... OMIM:210000
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Spinocerebellar Ataxia 50
Cerebellar atrophy, Hearing impairment, Cerebellar vermis atrophy, Chorea, Postural tremor, Myocl... OMIM:620158
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:618015
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Hearing impairment, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Pro... ORPHA:139485
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Difficul... ORPHA:137898
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Cerebral atrophy, Secondary microcephaly, Pancytopenia, Cerebe... OMIM:613839
Pelizaeus-Merzbacher Disease
Broad-based gait, Inability to walk, Cerebellar vermis atrophy, Reduction of oligodendroglia, Cer... OMIM:312080
Panhypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95513
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Abnormal midbrain morphology, Spastic... ORPHA:206448
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Hyperphenylalaninemia, Transient hyperphenylalaninemia OMIM:264070
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Cerebellar atrophy, Protruding ear, Ataxia, Unsteady gait, Scoliosis, Kyphosis OMIM:300861
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Immunodeficiency 114, Folate-Responsive
Cerebellar atrophy, Cerebral atrophy, Increased circulating ferritin concentration, Lymphopenia, ... OMIM:620603
Trichohepatoenteric Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosu... OMIM:222470
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Microcytic anemia, Abnormal tricuspid valve morphology, Hematuria, M... ORPHA:90308
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Dy... OMIM:168601
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun... OMIM:607346
Mohr-Tranebjaerg Syndrome
Spasticity, Progressive sensorineural hearing impairment, Abnormal posturing, Tremor, Postlingual... OMIM:304700
Congenital Disorder Of Glycosylation, Type Iik
Secondary microcephaly, Elevated circulating aspartate aminotransferase concentration, Elevated c... OMIM:614727
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Hepatomegaly, Lethargy, Pancre... ORPHA:79312
Parkinsonian-Pyramidal Syndrome
Spasticity, Shuffling gait, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal ... ORPHA:171695
Atransferrinemia
Abnormality of the liver, Hypochromic anemia, Atransferrinemia OMIM:209300
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis, Abetalipoproteinemia, Ataxia OMIM:200100
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... ORPHA:98764
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Arm dystonia, Cerebellar atrophy, Fasciculations, Dysme... ORPHA:88644
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, Tremor, Short neck, Ataxia, High palate OMIM:618951
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia ORPHA:70594
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Cerebral cortical atrophy, T... OMIM:615530
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal g... ORPHA:2494
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Cerebellar hyp... OMIM:617810
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Dystonia, Dysphagia, Choreoathetosis OMIM:261630
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Decreased level of coenzyme Q10 in skeletal muscle, Abnorm... OMIM:612016
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Cog2-Cdg
Small pituitary gland, Decreased liver function, Diffuse cerebral atrophy, Decreased circulating ... ORPHA:435934
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Splenomegaly, Tremor, Reduced haptoglobin level, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Hearing impairment, Difficulty walking, Distal sensory impairment, Scoliosis, Kyphosis OMIM:617087
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Elevated circulating hepatic transaminase concentration, Diffuse cerebral ... OMIM:617395
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... ORPHA:101077
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Head tremor, Chorea, Gait ataxia, Limb ataxia, Impaired proprioception, Eleva... OMIM:606002
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Cerebral atrophy, Inability to walk, Chorea, Gait ataxia, Ab... ORPHA:500180
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
3P25.3 Microdeletion Syndrome
High, narrow palate, Abnormal thalamus morphology, Sensorineural hearing impairment, Cleft palate... ORPHA:435638
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Hypertriglyceridemia, ... OMIM:245900
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Impaired vibratory sensation, Upper limb hypertonia, Gait disturbance, Clonus... OMIM:614898
Acute Disseminated Encephalomyelitis
Involuntary movements, Somatic sensory dysfunction, Abnormal cerebellum morphology, Hemiparesis, ... ORPHA:83597
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... ORPHA:71275
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Mednik Syndrome
Abnormal intestine morphology, Intrahepatic cholestasis, Decreased circulating ceruloplasmin conc... ORPHA:171851
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Cerebral calcification, Microcephaly, Thrombocytopenia, Hepatomegaly ORPHA:1980
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Sc... OMIM:300718
Myopathy With Extrapyramidal Signs
Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Diff... OMIM:615673
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia, Hypospadias, Hypoplasia of the corpus callosum OMIM:618972
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Hearing impairment, Distal sensory impairment, Tremor, Babinski sign, Steppage gait, ... OMIM:609260
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Aicardi-Goutieres Syndrome 3
Elevated circulating hepatic transaminase concentration, Cerebral calcification, Hepatosplenomega... OMIM:610329
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Head tremor, Gait imbala... ORPHA:64753
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Abnorm... ORPHA:199351
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... OMIM:210250
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hepatomegaly, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:2123
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Stxbp1-Related Encephalopathy
Inability to walk, Cerebral white matter atrophy, Dysplastic corpus callosum, Ataxia ORPHA:599373
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Hypoplasia of the brainstem, Pancytopenia, Abnormality of the ... ORPHA:2169
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Aicardi-Goutieres Syndrome 6
Cerebral calcification, Splenomegaly, Loss of ambulation, Microcephaly, Thrombocytopenia, Hepatom... OMIM:615010
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Folate Malabsorption, Hereditary
Basal ganglia calcification, Leukopenia, Folate-responsive megaloblastic anemia, Neutropenia, Ata... OMIM:229050
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Rett Syndrome
Difficulty walking, Inability to walk, Hyperammonemia, Cholecystitis, Dystonia, Gait disturbance,... ORPHA:778
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Tremor, Ataxia OMIM:619099
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Dysto... ORPHA:306682
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Cerebral atrophy, Elevated circu... OMIM:614857
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Abnormal circulating histidine concentratio... ORPHA:210128
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Generalized dystonia, Abnormal posturing, Inability to walk, Opisthoton... ORPHA:216866
Eosinophilic Gastroenteritis
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Leukocytosis, Eosinophilia, Anemia, Ab... ORPHA:2070
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,... ORPHA:182050
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... ORPHA:84064
Preeclampsia/Eclampsia 1
Proteinuria, Elevated circulating hepatic transaminase concentration, Thrombocytopenia OMIM:189800
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Impaired vibratory sensation, Cerebellar atrophy, Oculomotor apraxia, Hyperchole... OMIM:616267
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis... OMIM:612736
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked