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Gene: Pura MGI:103079

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

purine rich element binding protein A

Synonyms:

Pur alpha, ssCRE-BP, CAGER-1, Pur-alpha

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 Pura 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 Pura (3 diseases)
Human diseases predicted to be associated with Pura (664 diseases)

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

Disease	Matching phenotypes	Source
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Broad-based gait, Seizure, Myoclonus	OMIM:616158
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Exaggerated startle response, Ataxia, Seizure, Dystonia	ORPHA:438216
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal tonic seizure, Seiz...	ORPHA:314655

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

Disease	Matching phenotypes	Source
Phosphoserine Phosphatase Deficiency	Postnatal growth retardation, Intrauterine growth retardation, Seizure	OMIM:614023
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Seizure, Ataxia, Cerebellar hypoplasia	OMIM:213000
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy	OMIM:617018
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h...	OMIM:604213
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia	OMIM:141500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Spasticity, Tremor, Gait ataxia	ORPHA:217012
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Inability to walk,...	ORPHA:330050
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ...	OMIM:618090
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Falls, Myoclonus, Truncal ataxia...	ORPHA:363710
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski...	OMIM:615362
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor...	ORPHA:79262
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre...	OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal...	ORPHA:89844
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy	OMIM:615957
Huntington Disease-Like 2	Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia	ORPHA:98934
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradyki...	ORPHA:248111
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo...	ORPHA:599373
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure with generalized onset, Hypoplasia o...	ORPHA:101070
Spinocerebellar Ataxia 23	Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Agenesis of corpu...	OMIM:610245
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,...	OMIM:128100
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, A...	OMIM:614831
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Short stature, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi...	OMIM:616291
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera...	ORPHA:2590
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-mo...	OMIM:617810
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, N...	OMIM:275350
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Vacuolated lymphocytes, Limb tremor, Dysmetria, Clumsiness, Seizure, ...	OMIM:256731
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Br...	ORPHA:521406
Fanconi Anemia, Complementation Group D2	Pancytopenia, Short stature, Small for gestational age, Thrombocytopenia, Hydrocephalus, Cryptorc...	OMIM:227646
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Short stature, Trem...	OMIM:610185
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Intrauterine growth retardation	OMIM:620270
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio...	OMIM:302500
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability	OMIM:600546
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Frequ...	OMIM:616719
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Developmental Delay And Seizures With Or Without Movement Abnormalities	Short stature, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Chiari type I malformati...	OMIM:617836
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria...	OMIM:213200
Neuroectodermal Melanolysosomal Disease	Recurrent respiratory infections, Ataxia, Tremor, Rigidity, Seizure, Hypertonia, Cerebellar hypop...	ORPHA:33445
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetri...	OMIM:611302
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure...	ORPHA:71517
Diamond-Blackfan Anemia 4	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia	OMIM:612527
Fanconi Anemia, Complementation Group C	Pancytopenia, Short stature, Small for gestational age, Thrombocytopenia, Cryptorchidism, Reticul...	OMIM:227645
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu...	ORPHA:300298
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Fanconi Anemia, Complementation Group E	Pancytopenia, Short stature, Small for gestational age, Thrombocytopenia, Cryptorchidism, Reticul...	OMIM:600901
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, S...	OMIM:617435
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure with generalize...	OMIM:619028
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizur...	OMIM:612016
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ...	ORPHA:98763
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Fanconi Anemia, Complementation Group A	Pancytopenia, Short stature, Small for gestational age, Thrombocytopenia, Cryptorchidism, Reticul...	OMIM:227650
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoc...	ORPHA:139485
Diamond-Blackfan Anemia 5	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Myopathy With Extrapyramidal Signs	Hepatomegaly, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, Perisylvian polymicrogyria, Cho...	OMIM:615673
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t...	ORPHA:93952
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait	OMIM:618387
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morpholog...	ORPHA:2585
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, ...	ORPHA:79263
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady ...	ORPHA:397946
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short stature, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia,...	ORPHA:508542
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Hepatomegaly, Pancytopenia, Small for gestational age, Refractory siderobla...	OMIM:557000
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Short stature, Small for gestational age...	OMIM:300957
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai...	OMIM:117360
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Seizure, Dystonia	OMIM:612126
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Short stature, Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Photosensitive myoclonic sei...	ORPHA:1192
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Recurrent upper respira...	ORPHA:225147
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Generalized-onset seizure, Tremor, I...	ORPHA:228360
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Decreased response to growth hormone stimulation test, Bilateral tonic-clonic seiz...	ORPHA:457240
4H Leukodystrophy	Cerebellar atrophy, Dystonia, Ataxia, Short stature, Decreased response to growth hormone stimula...	ORPHA:289494
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Seizure, Spastic para...	ORPHA:329284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pon...	OMIM:613153
Diamond-Blackfan Anemia	Acute myeloid leukemia, Short stature, Small for gestational age, Pure red cell aplasia, Thromboc...	ORPHA:124
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysmetria, Clu...	ORPHA:284324
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Pulmonary hypoplasia, Cerebellar hypopl...	OMIM:616531
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Short stature, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, ...	OMIM:612438
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait...	ORPHA:216873
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Dysm...	OMIM:607694
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Juvenile Amyotrophic Lateral Sclerosis	Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston...	ORPHA:300605
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Poor motor coordination, Tre...	ORPHA:1170
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Diamond-Blackfan Anemia 10	Macrocytic anemia, Short stature, Reticulocytopenia, Growth delay, Steroid-responsive anemia, Anemia	OMIM:613309
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Stat...	ORPHA:529665
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Pr...	OMIM:210000
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Spasticity, Weight loss, Opisthotonus, Seizure, Tip-toe ...	ORPHA:216866
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Tremor, Abnormal cerebellum morphology, Unsteady gait, Slurre...	ORPHA:137898
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Pneumothorax, Growth delay, Hypertonia,...	OMIM:619738
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di...	ORPHA:98764
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Huntington Disease	Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, We...	ORPHA:399
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait a...	OMIM:615157
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, T...	OMIM:302800
Pulmonary Blastoma	Weight loss	ORPHA:64741
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Thrombocytosis, Congenital hypoplastic anemia, Spina bifida occ...	OMIM:105650
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor	OMIM:606438
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Gait disturbance, Dystonia...	ORPHA:542310
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosi...	OMIM:617710
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Cerebellar hypoplasia, Failure to thrive	OMIM:619556
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Int...	OMIM:615010
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Seizur...	OMIM:618060
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Tremor, Hydrocephalus, Simplified gyral pattern, Seizure	OMIM:619470
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Short stature, Writer's cramp, Head titubation, I...	OMIM:312080
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi...	OMIM:617013
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr...	OMIM:609054
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradyk...	OMIM:137440
Developmental And Epileptic Encephalopathy 106	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo...	OMIM:620028
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur...	ORPHA:363717
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or...	ORPHA:454887
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Choreoathetosis, Growth delay, Seizure, Cerebellar hypoplasia, Dystonia	OMIM:619422
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Difficulty walking...	ORPHA:306669
Spinocerebellar Ataxia 2	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Un...	OMIM:183090
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Upper motor n...	ORPHA:276435
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Inability to walk, Hydrocephalus, Cerebellar hypoplasia, Cerebellar...	OMIM:613155
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Seizure, Sp...	OMIM:300894
Congenital Disorder Of Glycosylation, Type Ie	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Seizure, Pontocerebellar atrophy, Failure to thrive	OMIM:608799
Ataxia-Telangiectasia	Lymphopenia, Abnormality of chromosome stability, Recurrent respiratory infections, Short stature...	ORPHA:100
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, St...	OMIM:616505
Xeroderma Pigmentosum, Complementation Group G	Small for gestational age, Ataxia, Infantile spasms, Tremor, Defective DNA repair after ultraviol...	OMIM:278780
Glutathionuria	Tremor, Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Tuberculosis	Weight loss	ORPHA:3389
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Short stature, Limb ataxia, Gait ataxia, Bradykinesia, Titubatio...	ORPHA:98768
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Short stature, Tremor, Cryptorchidism, Simplified gyral pattern, Gait ataxia, Seizure, Abdominal ...	OMIM:300354
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-...	ORPHA:36387
Vici Syndrome	Lymphopenia, Recurrent respiratory infections, Cerebellar vermis hypoplasia, Postnatal growth ret...	OMIM:242840
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Dystonia, Rhizomelia, Ataxia, Tremor, Recurrent pneumonia, Opisthotonus, Grow...	OMIM:616271
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Limb ataxia, Gait ataxi...	OMIM:208920
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyri...	OMIM:615181
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Growth delay, Normochromic anemia, Neutropenia, Lethargy, Abnormal posturing, Fai...	OMIM:614857
Epilepsy, Progressive Myoclonic, 6	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:614018
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Recurrent respiratory infections, Generalized-onset seizure, Tremor, Degeneration of anterior hor...	OMIM:159950
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Aspiration pneumonia, Laryngeal ...	ORPHA:845
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinski sign, Dy...	OMIM:609270
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Tremor, Inability to walk, Choreoathetosis, Seizure, Dystonia, Spasticity	OMIM:617664
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Short stature, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxi...	OMIM:614381
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Spasticity, Dystonia	OMIM:304700
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Truncal titubation, Abnormal cerebellum morphol...	OMIM:618056
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata...	OMIM:617831
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Recurrent pneumonia, Seizure, Lateral ven...	OMIM:617751
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B...	ORPHA:240094
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Short stature, Inability to walk, Dystonic gait, Macrogyria, Titub...	ORPHA:280210
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ...	OMIM:602481
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive	ORPHA:477673
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Multifocal se...	ORPHA:572798
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Short stature, Anemia of inadequate production, Anisocytosis, Sple...	OMIM:615631
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ...	OMIM:600363
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Gait ataxia, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Impa...	OMIM:300623
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly	ORPHA:33574
Isaacs Syndrome	Fasciculations, Weight loss	ORPHA:84142
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Pancytopenia, Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Loss of...	OMIM:607426
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
3-Methylglutaconic Aciduria, Type Iv	Cryptorchidism, Cerebellar dysplasia	OMIM:250951
Aceruloplasminemia	Refractory anemia, Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, ...	ORPHA:48818
Atypical Rett Syndrome	Dystonia, Generalized myoclonic seizure, Involuntary movements, Infantile spasms, Tremor, Inabili...	ORPHA:3095
Idiopathic Achalasia	Weight loss	ORPHA:930
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Later...	ORPHA:363654
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Slender build, Cachexia, Weight loss	OMIM:613662
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturb...	ORPHA:220497
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hypertension,...	ORPHA:1454
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf...	OMIM:168605
Christianson Syndrome	Cerebellar atrophy, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the ce...	ORPHA:85278
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Myoclonic seizure, Cere...	OMIM:620327
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Failure to thrive, Bilateral tonic-clonic seizure, Tre...	OMIM:617988
Developmental And Epileptic Encephalopathy 42	Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Mirage Syndrome	Short stature, Thrombocytopenia, Hydrocephalus, Cryptorchidism, Paraplegia, Leukopenia, Seizure, ...	OMIM:617053
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Abnormality of the liver, Status epile...	OMIM:614307
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Waddling gait, Hepatomegaly, Speech apraxia, Ataxia, Short stature, Dystonia,...	OMIM:615356
Oculopharyngodistal Myopathy	Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis	ORPHA:98897
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,...	OMIM:261640
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai...	OMIM:254900
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine...	ORPHA:240085
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey...	OMIM:616421
4Q21 Microdeletion Syndrome	Tremor, Growth delay, Seizure, Cerebellar hypoplasia, Intrauterine growth retardation, Agenesis o...	ORPHA:238750
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Sei...	OMIM:612736
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Seizure, Gait disturb...	ORPHA:220493
Niemann-Pick Disease Type C	Generalized-onset seizure, Bone-marrow foam cells, Tremor, Chorea, Abnormal lung morphology, Abno...	ORPHA:646
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesit...	OMIM:300055
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Crome Syndrome	Seizure, Short stature, Cerebellar dysplasia	OMIM:218900
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare...	ORPHA:3208
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Abnormality of neuron...	ORPHA:475
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Myoclonic seizure, Cervical ...	OMIM:617186
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Seiz...	ORPHA:363400
Gracile Bone Dysplasia	Short stature, Asplenia, Hydrocephalus, Seizure, Hypoplastic spleen, Failure to thrive	OMIM:602361
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Infantile spasm...	ORPHA:98889
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Obesity, Shuffling...	ORPHA:3077
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys...	ORPHA:70594
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aspiration pneumonia...	ORPHA:99027
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto...	ORPHA:93958
Non-Specific Early-Onset Epileptic Encephalopathy	Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unst...	ORPHA:442835
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Cryptorchidism, Recurrent pneumonia, Seizure, Cerebellar hypoplasia, Polymicrogyria, Cerebellar d...	ORPHA:500159
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Reticulocytosis, Ataxia, Seizure, Erythroid hyperplasia	OMIM:300653
Unilateral Polymicrogyria	Involuntary movements, Pulmonary arteriovenous malformation, Infantile spasms, Focal-onset seizur...	ORPHA:268943
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par...	ORPHA:167
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Shor...	OMIM:613673
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ...	OMIM:611590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Seizure...	OMIM:613150
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia,...	OMIM:212065
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Spastic dysarthri...	ORPHA:447753
Riboflavin Transporter Deficiency	Tremor, Ataxia, Myoclonus, Cachexia	ORPHA:97229
Lhermitte-Duclos Disease	Ataxia, Hydrocephalus, Ovarian neoplasm, Seizure, Polymicrogyria, Enlarged cerebellum	ORPHA:65285
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Febrile seizure (within the age range of 3 months to 6 years), Bilateral toni...	ORPHA:1934
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Chronic Hiccup	Weight loss	ORPHA:396
12Q14 Microdeletion Syndrome	Short stature, Tremor, Abnormality of the spleen, Chiari malformation, Intrauterine growth retard...	ORPHA:94063
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Gray matter heterotopia, Seizure, Lissencephaly, Cerebellar hypoplasia, Oculomotor...	OMIM:617822
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Mild postnatal growth...	OMIM:224120
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Pontocereb...	OMIM:606002
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Congenital Muscular Dystrophy Due To Lmna Mutation	Gait disturbance, Cachexia	ORPHA:157973
Japanese Encephalitis	Neutrophilia, Weakness due to upper motor neuron dysfunction, Dystonia, Bilateral tonic-clonic se...	ORPHA:79139
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Cachexia, Babinski sign, Dystonia, Neonatal death, Spasticity	OMIM:618186
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Seizure, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Ataxia-Telangiectasia	Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Intention tremor, Ataxia, S...	OMIM:208900
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Dystonia, Spas...	ORPHA:702
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Autoimmune hemolytic anemia, Ataxia, Pneumonia, Pure red cell aplasia, Autoimm...	OMIM:613179
Typhoid	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Abnormal pulmonary interstitial morphology, Hypertoni...	ORPHA:99745
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Clonus, Hyp...	OMIM:615574
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Dystonia, Recurrent respiratory infections, Anis...	OMIM:618278
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Short stature, Tremor, Dysmetria, Growth delay, Progressive cerebellar ataxia, Dysdiadochokinesis...	ORPHA:502423
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Bradykinesia, Cogwheel...	ORPHA:254892
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia...	ORPHA:822
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Ataxia, Short stature, Bilateral cryptorchidism, Cryptorchidism, Tremor, Pulmonary artery stenosi...	OMIM:300998
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia	OMIM:185070
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst...	ORPHA:411602
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
47,Xyy Syndrome	Macroorchidism, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin level, Seizure,...	ORPHA:8
Hypermanganesemia With Dystonia 1	Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordinatio...	OMIM:613280
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity	OMIM:616801
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Growth delay, Anemia, Thrombocytopenia	OMIM:611490
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Short stature, Ataxia, Bilateral cryptorchidism, Tremor, Abnormalit...	ORPHA:2754
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Mulibrey Nanism	Cachexia	ORPHA:2576
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Agyria, Type II lissencephaly, Meningoencephalocele, Hydrocephalus, Cryp...	OMIM:236670
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep...	ORPHA:699
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor	ORPHA:713
Pyruvate Carboxylase Deficiency	Hepatomegaly, Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Cerebellar gliosis, A...	ORPHA:3008
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Tremor, Unsteady gait, Weight loss, Abnormality of extrapyramidal m...	ORPHA:354
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis, Weight loss	OMIM:613239
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Postnatal growth retardation, Tremor, S...	OMIM:300966
X-Linked Creatine Transporter Deficiency	Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia	ORPHA:52503
Rhabdoid Tumor	Hemiplegia, Cerebral palsy, Weight loss	ORPHA:69077
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Tremor, Inability to walk, Babinski sign, Tongue tremor, Diaphragmatic paraly...	ORPHA:466768
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Dpagt1-Cdg	Hepatomegaly, Epileptic spasm, Ataxia, Akinesia, Tremor, Inability to walk, Abnormal cerebellum m...	ORPHA:86309
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Tremor,...	OMIM:214500
Moynahan Syndrome	Cachexia	ORPHA:2574
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Abnormal erythrocy...	ORPHA:288
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Splenomegaly, Jaundice,...	OMIM:615512
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:94080
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Sandifer Syndrome	Abnormal posturing, Torticollis, Anemia	ORPHA:71272
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Classic Hodgkin Lymphoma	Ataxia, Weight loss	ORPHA:391
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Rett Syndrome	Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Dystonia, Spasticity	OMIM:312750
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Mu-Heavy Chain Disease	Weight loss	ORPHA:100024
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Large for gestational age, Tremor, Choreoathetosis, Hydrocele testis, Seizure...	OMIM:614080
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Cryptorchidism, Agenesis of pulmonary vessels, Multilobulate...	OMIM:601186
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Short stature, Postnatal growth retardation, Thrombocytopenia, Tremor, Abnormal pyramidal...	OMIM:612199
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Wilson Disease	Increased body weight, Clumsiness, Weight loss, Difficulty walking, Failure to thrive	ORPHA:905
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Olivopontocerebellar atrophy	OMIM:146500
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Growth delay, Seizure, Testicular atr...	OMIM:222300
Aicardi-Goutieres Syndrome 9	Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Lateral ventricle dilat...	OMIM:619487
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Cockayne Syndrome A	Cerebellar atrophy, Hepatomegaly, Short stature, Ataxia, Tremor, Splenomegaly, Cryptorchidism, Se...	OMIM:216400
Fatal Familial Insomnia	Ataxia, Myoclonus, Weight loss	OMIM:600072
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Follicular Lymphoma	Weight loss	ORPHA:545
Pleural Mesothelioma	Weight loss	ORPHA:50251
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Tremor, Thrombocytopenia, Hydrocephalus, Seizure, Abnormality of extrapyram...	OMIM:277400
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Tremor, Thrombocytopenia, Anemia, Seizure, Neutropenia, Decreased met...	OMIM:251100
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia	ORPHA:93941
Flynn-Aird Syndrome	Ataxia, Cachexia	ORPHA:2047
Alexander Disease	Ataxia, Clonus, Aqueductal stenosis, Tremor, Hydrocephalus, Chorea, Abnormal pyramidal sign, Tetr...	ORPHA:58
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Short stature, Tremor, Splenomegaly, Lethargy, Failure to thrive, Decreased...	OMIM:201100
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ataxia, Cachexia	ORPHA:1933
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait	OMIM:168600
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Tick-Borne Encephalitis	Speech apraxia, Abnormal medulla oblongata morphology, Incoordination, Generalized-onset seizure,...	ORPHA:297
Holocarboxylase Synthetase Deficiency	Ataxia, Weight loss	ORPHA:79242
Mcdonough Syndrome	Cachexia	ORPHA:2471
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Myoclonus, Weight loss	OMIM:256700
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Cerebellar atrophy, Increased mean platelet volume, Postnatal growth retardation, Thrombocytopeni...	ORPHA:487796
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Weight loss	ORPHA:1842
Cockayne Syndrome B	Hepatomegaly, Severe short stature, Ataxia, Cerebellar calcifications, Small for gestational age,...	OMIM:133540
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis, Weight loss	OMIM:188580
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Pfapa Syndrome	Weight loss	ORPHA:42642
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Abetalipoproteinemia	Reticulocytosis, Broad-based gait, Hepatomegaly, Ataxia, Acanthocytosis, Upper motor neuron dysfu...	ORPHA:14
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Choreoacanthocytosis	Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord...	ORPHA:2388
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Gait disturbance, Cachexia	ORPHA:2774
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity	OMIM:176500
Focal Myositis	Weight loss	ORPHA:48918
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Ataxia, Cachexia	ORPHA:42
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Gaucher Disease	Hepatomegaly, Pancytopenia, Ataxia, Short stature, Bilateral tonic-clonic seizure, Generalized my...	ORPHA:355
Infantile Krabbe Disease	Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decereb...	ORPHA:206436
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight loss, Progressive gait at...	OMIM:607459
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Ataxia, Small for gestational age, Dystonia, Generalized-onset seiz...	OMIM:220111
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Glossopharyngeal Neuralgia	Chiari type I malformation, Vocal cord paralysis, Weight loss	ORPHA:221098
Takayasu Arteritis	Weight loss	ORPHA:3287
Renpenning Syndrome	Cachexia	ORPHA:3242
Immunodeficiency 27A	Weight loss	OMIM:209950
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss	ORPHA:142
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Tremor, Dysplastic corpus callosum, Cryptorchidism, Pineal cyst, Seizure,...	OMIM:300967
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged n...	OMIM:274150
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Spastic tetraplegia, Cachexia	ORPHA:371364
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Hemiparesis, Seizure, Microangiopathic hemolytic anemia, Thrombo...	OMIM:235400
X-Linked Agammaglobulinemia	Failure to thrive, Weight loss	ORPHA:47
X-Linked Intellectual Disability, Cabezas Type	Tremor, Broad-based gait, Obesity, Cachexia	ORPHA:85293
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Short stature	ORPHA:2522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Pachygyria, Hydrocephalus, Seizure, Cerebellar hypoplasia, Myoclonus, Spast...	OMIM:253280
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Abnormal superior cerebellar peduncle morphology, Weight loss	ORPHA:370348
Beta-Ketothiolase Deficiency	Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss	ORPHA:134
Osteosarcoma	Weight loss	ORPHA:668
Lynch Syndrome	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance	ORPHA:144
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Leishmaniasis	Weight loss	ORPHA:507
Kaposi Sarcoma	Weight loss	ORPHA:33276
Polymyositis	Gait disturbance, Weight loss	ORPHA:732
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:276621
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Chronic Beryllium Disease	Weight loss	ORPHA:133
Familial Colorectal Cancer Type X	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance	ORPHA:440437
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Cap Polyposis	Weight loss	ORPHA:160148
Bullous Pemphigoid	Weight loss	ORPHA:703
Cog1-Cdg	Cerebellar vermis hypoplasia, Rhizomelia, Postnatal growth retardation, Hepatosplenomegaly, Failu...	ORPHA:263508
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Deafness-Lymphedema-Leukemia Syndrome	Weight loss	ORPHA:3226
Majeed Syndrome	Failure to thrive, Cachexia, Weight loss	ORPHA:77297
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Rigidity, Babinski sign, ...	OMIM:234200
Eosinophilic Granulomatosis With Polyangiitis	Hemiplegia/hemiparesis, Gait disturbance, Weight loss	ORPHA:183
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Liposarcoma	Weight loss	ORPHA:69078
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Polyarteritis Nodosa	Weight loss	ORPHA:767
Tetrasomy 12P	Cachexia	ORPHA:884
Celiac Disease, Susceptibility To, 1	Failure to thrive, Ataxia, Weight loss	OMIM:212750
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity	ORPHA:20
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Whipple Disease	Ataxia, Abnormal pyramidal sign, Myoclonus, Cachexia	ORPHA:3452
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Hypert...	OMIM:615846
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Yao Syndrome	Weight loss	OMIM:617321
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga...	OMIM:601104
Giant Cell Arteritis	Ataxia, Weight loss	ORPHA:397
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Aggressive Systemic Mastocytosis	Weight loss	ORPHA:98850
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
Loeffler Endocarditis	Weight loss	ORPHA:75566
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:29072
African Trypanosomiasis	Hepatomegaly, Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Tremor...	ORPHA:3385
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Riddle Syndrome	Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination	ORPHA:420741
Erdheim-Chester Disease	Abnormal cerebellum morphology, Ataxia, Weight loss	ORPHA:35687
Nephroblastoma	Weight loss	ORPHA:654
Eosinophilic Gastroenteritis	Weight loss	ORPHA:2070
Oculopharyngodistal Myopathy 1	Tremor, Ataxia, Difficulty walking, Weight loss	OMIM:164310
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Seizure, Microangiopathic hemolytic a...	ORPHA:90038
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Pemphigus Vulgaris	Weight loss	ORPHA:704
Familial Glucocorticoid Deficiency	Failure to thrive, Tetraplegia, Weight loss	ORPHA:361
Aredyld Syndrome	Cachexia	ORPHA:1133
Felty Syndrome	Weight loss	ORPHA:47612
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Ménétrier Disease	Weight loss	ORPHA:2494
Rheumatoid Arthritis	Weight loss	OMIM:180300
Short Syndrome	Weight loss	ORPHA:3163
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Orchitis, Jaundice, Neutrophilia in presence of infection, Atypical...	ORPHA:99826
Cockayne Syndrome	Cerebellar atrophy, Ataxia, Cachexia, Action tremor, Inability to walk, Dense calcifications in t...	ORPHA:191
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Wolman Disease	Cachexia	ORPHA:75233
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Refractory Celiac Disease	Weight loss	ORPHA:398063
Symptomatic Form Of Hfe-Related Hemochromatosis	Weight loss	ORPHA:465508
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Pneumocystosis	Weight loss	ORPHA:723
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Acute Promyelocytic Leukemia	Weight loss	ORPHA:520
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Waddling gait, Short stature, Lymphangioma, Recurrent pneumonia, Acute myelomonocytic leukemia, G...	ORPHA:99646
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Ataxia, Cachexia	ORPHA:220295
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Primary Myelofibrosis	Cachexia	ORPHA:824
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Failure to thrive, Ataxia, Weight loss	ORPHA:99885
Alveolar Echinococcosis	Hemiparesis, Ataxia, Weight loss	ORPHA:284
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Drug Reaction With Eosinophilia And Systemic Symptoms	Weight loss	ORPHA:139402
Osteootohepatoenteric Syndrome	Failure to thrive, Weight loss	OMIM:619377
Xfe Progeroid Syndrome	Poor coordination, Failure to thrive, Cachexia	OMIM:610965
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Late-Onset Isolated Acth Deficiency	Failure to thrive, Weight loss	ORPHA:199299
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Hereditary Amyloidosis With Primary Renal Involvement	Weight loss	ORPHA:85450
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Trisomy 18	Hypertonia, Chiari malformation, Cachexia	ORPHA:3380
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia	OMIM:175500
Thymoma	Weight loss	ORPHA:99867
Cystic Echinococcosis	Weight loss	ORPHA:400
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Poems Syndrome	Weight loss	ORPHA:2905
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Al Amyloidosis	Weight loss	ORPHA:85443
Schwartz-Jampel Syndrome	Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Decreased body weight	ORPHA:800
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss	ORPHA:2298
Behçet Disease	Ataxia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Gait disturbance	ORPHA:117
Simple Cryoglobulinemia	Weight loss	ORPHA:91139
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss	ORPHA:98849
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Mucolipidosis Type Ii	Inability to walk, Weight loss	ORPHA:576
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Broad-based gait, Seizure, Myoclonus	OMIM:616158
Klatskin Tumor	Weight loss	ORPHA:99978
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Polycythemia Vera	Weight loss	ORPHA:729
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Lysosomal Acid Lipase Deficiency	Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomotor ap...	ORPHA:2072
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Acute Adrenal Insufficiency	Failure to thrive, Weight loss	ORPHA:95409
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Q Fever	Weight loss	ORPHA:781
Igg4-Related Retroperitoneal Fibrosis	Weight loss	ORPHA:49041
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Caroli Disease	Weight loss	ORPHA:53035
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
Brucellosis	Chorea, Failure to thrive, Small for gestational age, Weight loss	ORPHA:1304
Hermansky-Pudlak Syndrome	Weight loss	ORPHA:79430
Stevens-Johnson Syndrome	Weight loss	ORPHA:36426
Toxic Epidermal Necrolysis	Weight loss	ORPHA:537
Familial Thrombocytosis	Weight loss	ORPHA:71493
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Camurati-Engelmann Disease	Waddling gait, Ataxia, Slender build, Cachexia	ORPHA:1328
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Castleman Disease	Weight loss	ORPHA:160
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Microsporidiosis	Cachexia, Weight loss	ORPHA:2552
Granulomatosis With Polyangiitis	Hemiplegia, Weight loss	ORPHA:900
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Weight loss	ORPHA:2020
Nijmegen Breakage Syndrome	Abnormality of neuronal migration, Cachexia	ORPHA:647
Addison Disease	Failure to thrive, Weight loss	ORPHA:85138
Immunodeficiency 31C	Weight loss	OMIM:614162
Fanconi Anemia	Weight loss	ORPHA:84
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Primary Sclerosing Cholangitis	Weight loss	ORPHA:171
Multiple Myeloma	Weight loss	ORPHA:29073
Pancreatoblastoma	Weight loss	ORPHA:677
Pyomyositis	Weight loss	ORPHA:764
Rat-Bite Fever	Weight loss	ORPHA:31205
Seckel Syndrome	Cachexia	ORPHA:808
Kikuchi-Fujimoto Disease	Ataxia, Weight loss	ORPHA:50918
Tropical Pancreatitis	Weight loss	ORPHA:103918
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss	ORPHA:85408
Cystinosis, Nephropathic	Failure to thrive in infancy, Weight loss	OMIM:219800
Reactive Arthritis	Weight loss	ORPHA:29207
Ppoma	Weight loss	ORPHA:97278
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Shuffling gait, Weight loss	ORPHA:740
Malt Lymphoma	Weight loss	ORPHA:52417
Somatostatinoma	Weight loss	ORPHA:97283
Parathyroid Carcinoma	Weight loss	ORPHA:143
Grfoma	Weight loss	ORPHA:97261
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Vipoma	Weight loss	ORPHA:97282
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Glucagonoma	Weight loss	ORPHA:97280
Postinfectious Vasculitis	Weight loss	ORPHA:48435
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Norrie Disease	Clonus, Cachexia, Hypertonia, Aplasia/Hypoplasia of the cerebellum, Failure to thrive	ORPHA:649
Dermatomyositis	Weight loss	ORPHA:221
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Weight loss	OMIM:301074
Juvenile Polyposis Of Infancy	Cachexia	ORPHA:79076
Multiple Endocrine Neoplasia Type 1	Weight loss	ORPHA:652
Nocardiosis	Weight loss	ORPHA:31204
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Exaggerated startle response, Ataxia, Seizure, Dystonia	ORPHA:438216
Marfan Syndrome	Slender build, Cachexia	ORPHA:558
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Weight loss	ORPHA:90794
Stickler Syndrome	Hemiplegia/hemiparesis, Slender build, Cachexia	ORPHA:828
Igg4-Related Dacryoadenitis And Sialadenitis	Weight loss	ORPHA:79078
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Sarcoidosis, Susceptibility To, 1	Weight loss	OMIM:181000
Igg4-Related Kidney Disease	Weight loss	ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation	Weight loss	OMIM:619381
Cushing Syndrome Due To Ectopic Acth Secretion	Truncal obesity, Abdominal obesity, Increased body weight, Weight loss	ORPHA:99889
Sarcoidosis	Weight loss	ORPHA:797
Proteus Syndrome	Gray matter heterotopia, Cachexia	ORPHA:744
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome	Weight loss	ORPHA:91500
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal tonic seizure, Seiz...	ORPHA:314655
Goodpasture Syndrome	Weight loss	OMIM:233450
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565

Histopathology

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

There is no histopathology data for Pura

IMPC related publications

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

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

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Pura^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pura^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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