Gene Summary

Name:
lipin 2
Synonyms:
2610511G02Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Lpin2tm1b(KOMP)Wtsi HOM Early adult 1.35×10-08
preweaning lethality, incomplete penetrance Lpin2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased red blood cell distribution width Lpin2tm1b(KOMP)Wtsi HOM Early adult 3.88×10-05
enlarged lymph nodes Lpin2tm1b(KOMP)Wtsi HOM Early adult 0.00
hydrometra Lpin2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased mean corpuscular hemoglobin Lpin2tm1b(KOMP)Wtsi HOM Early adult 3.33×10-05
increased mean platelet volume Lpin2tm1b(KOMP)Wtsi HOM Early adult 5.16×10-14

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Viewing: all phenotypes

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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Histopathology

Images

16 Images

Gross Pathology and Tissue Collection

Images

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Eye Morphology

Images Slit Lamp

5 Images

X-ray

XRay Images Hind Leg and Hip

11 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Human diseases caused by Lpin2 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 Lpin2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Lpin2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Spinocerebellar Ataxia 43
Rigidity, Distal sensory impairment, Ataxia, Tremor, Cerebellar vermis atrophy, Limb ataxia, Gait... OMIM:617018
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Ataxia, Anemia ORPHA:2802
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Anisocy... OMIM:224120
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iro... OMIM:616860
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Abnormal lactate dehydrogenase level, Macrothro... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Anemia, Splenomegaly, Anisoc... ORPHA:766
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Cerebellar atrophy, Hepatic fibrosis, Frequent falls, Splenomegaly, Distal sensory ... OMIM:616719
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Ataxia-Pancytopenia Syndrome
Babinski sign, Hypoplastic anemia, Neutropenia, Cerebellar atrophy, Dysmetria, Acute myelomonocyt... OMIM:159550
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Incr... ORPHA:86841
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Increased circulating lactate deh... ORPHA:3203
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Cerebellar h... OMIM:615768
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Hypertriglyceridemia, Tetrapare... OMIM:615924
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Cerebellar atrophy, Myoclonus OMIM:616187
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia OMIM:141500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Tr... OMIM:610245
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:616127
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention trem... ORPHA:276193
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Aplasia/Hypo... ORPHA:79262
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Limb ataxi... ORPHA:98763
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, A... OMIM:210000
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor OMIM:302500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebellar atrophy, Stereotypy OMIM:617862
Aicardi-Goutieres Syndrome 6
Dystonia, Rigidity, Tremor, Loss of ability to walk, Hemolytic anemia OMIM:615010
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Cerebellar hypoplasia, Unsteady gait, Limb... OMIM:213200
Glutathione Synthetase Deficiency
Neutropenia, Reduced glutathione synthetase level, Intention tremor, Spastic tetraparesis, Ataxia... OMIM:266130
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Steppage gait, Distal sensory impairment, Ataxia, Tremor, Gait ataxia OMIM:618387
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Hypochromic microcytic anemia, Dysmetria, Sideroblastic anemia, Intention ... OMIM:301310
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Elevated hepatic transam... ORPHA:98870
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Ataxia-Pancytopenia Syndrome
Gait disturbance, Hypoplastic anemia, Cerebellar atrophy, Acute myelomonocytic leukemia, Splenome... ORPHA:2585
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Myoclonus, Anemia, Hypertonia, Unsteady gait OMIM:610090
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia, Reticulocytosis OMIM:612126
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Tremor, Atax... OMIM:614831
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor OMIM:300660
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Paresthesia, Hepatic fibrosis, Frequent falls, Intention tremor, Progressive cerebellar ataxia, A... ORPHA:466794
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Decreased liver function, Cerebellar vermis... ORPHA:512260
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Action tremor, Thrombocytopenia... OMIM:254900
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Tremor, Aplasia of the inferior half of the cerebellar vermis, Dys... OMIM:610185
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Increased circulating lactate d... ORPHA:71275
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Myoclonus, Anemia, Splenomegaly, Intention tremor, Hyperspleni... OMIM:610539
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Bradykines... OMIM:617013
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign OMIM:612016
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Aceruloplasminemia
Involuntary movements, Dystonia, Hypochromic microcytic anemia, Rigidity, Elevated hepatic iron c... ORPHA:48818
Orotic Aciduria
Hypochromia, Anisocytosis, Poikilocytosis, Reduced orotidine 5-prime phosphate decarboxylase leve... OMIM:258900
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Dystonia, Hepatocellular necrosis, Tetraplegia, Anisocytosis, Poikilocytosis, Chron... OMIM:618278
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Hypermanganesemia With Dystonia 1
Hepatomegaly, Dystonia, Rigidity, Polycythemia, Steppage gait, Abnormality of extrapyramidal moto... OMIM:613280
Spinal Muscular Atrophy, Jokela Type
Distal sensory impairment, Difficulty walking, Fasciculations, Tremor OMIM:615048
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor,... ORPHA:79263
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Spinocerebellar Ataxia 42
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Glutathionuria
Tremor OMIM:231950
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Persiste... ORPHA:231226
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gai... OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Increased circulating lactate dehydrogenase concen... OMIM:619405
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... OMIM:300423
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Cerebellar atrophy, Choreoathetosis, Distal sensory impairment, Ataxia, Hypercholestero... OMIM:208920
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Poor motor coordination, Insulin resistance, Myoclonus, Tremor, Ataxia, Cirrhosis, ... ORPHA:363400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Ataxia, Eyelid myoclonus, Cerebellar hypoplasia, Pancytopenia... OMIM:613839
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Torticollis, Spasti... ORPHA:397946
Neuroectodermal Melanolysosomal Disease
Rigidity, Tremor, Ataxia, Hypertonia, Spasticity, Cerebellar hypoplasia, Abnormal cerebellar verm... ORPHA:33445
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Decreased liver function, Ataxia, Oculomotor apraxia, Tremor, Unst... OMIM:614867
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Anemia, Tremor, Aplasia/Hypoplasia of the cerebellum, Hypertonia, Type I diabet... ORPHA:1192
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Olivopontoc... OMIM:615157
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... ORPHA:98764
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Hypertriglyceridemia, Thrombocytopenia, Hemophag... OMIM:603552
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Dystonia, Anemia, Spastic tetraplegia, Hypertonia, Cerebellar hypoplasia, Th... OMIM:619302
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Gait disturbance, Rigidity, Frequent falls, Chorea, Oromandibular dysto... ORPHA:216873
Glutamate-Cysteine Ligase Deficiency
Ataxia, Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice ORPHA:33574
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Reduced lys... OMIM:278000
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Ataxia,... ORPHA:1170
Classic Galactosemia
Clumsiness, Postural tremor, Hepatomegaly, Lethargy, Hypoglycemia, Gait imbalance, Gait disturban... ORPHA:79239
Aceruloplasminemia
Torticollis, Chorea, Anemia, Abnormality of extrapyramidal motor function, Cogwheel rigidity, Ata... OMIM:604290
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... ORPHA:139485
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Cerebellar atrophy, Impaired distal propriocep... ORPHA:137898
Basal Ganglia Calcification, Idiopathic, 1
Athetosis, Parkinsonism, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Spasticity, Apraxia, Cerebellar hypopla... OMIM:617810
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholecystitis, Cholelithiasis, Pigment gallstones, Splenomegaly, Ataxia, Impaired neutrophil bact... OMIM:613470
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... ORPHA:71517
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Leukodystrophy, Hypomyelinating, 6
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Spinocerebellar Ataxia 15
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Hereditary Methemoglobinemia
Athetosis, Cerebellar atrophy, Methemoglobinemia, Spastic tetraplegia, Hypertonia, Spasticity, Li... ORPHA:621
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Galactosemia
Postural tremor, Hepatomegaly, Lethargy, Gait disturbance, Gait imbalance, Dystonia, Abnormality ... ORPHA:352
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Hand tremor, Para... OMIM:302800
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Hepatomegaly, Leukopenia, Choreoathetosis, Anemia, Pancreatitis, Paraparesis, ... ORPHA:27
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Beta-Thalassemia
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an... ORPHA:848
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Myopathy With Extrapyramidal Signs
Clumsiness, Leukocytosis, Clonus, Hepatomegaly, Dystonia, Choreoathetosis, Frequent falls, Chorea... OMIM:615673
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Macrocytic anemia, Tremor OMIM:615578
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Spinocerebellar Ataxia 27
Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... OMIM:609307
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign OMIM:614947
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy, Hepatomegaly, Dystonia, Neutropenia, Choreoathetosis, Chorea, Anemia, Pancreatitis, Thr... ORPHA:289916
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesi... OMIM:300894
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in the l... OMIM:600363
Spinocerebellar Ataxia 2
Postural tremor, Rigidity, Dysmetria, Dilated fourth ventricle, Myoclonus, Bradykinesia, Fascicul... OMIM:183090
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... ORPHA:276435
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Loss of ... ORPHA:276198
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ce... ORPHA:98773
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... OMIM:615528
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Lopes-Maciel-Rodan Syndrome
Dystonia, Cerebellar atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unstead... OMIM:617435
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Extrapyramidal mu... ORPHA:93952
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Anemia, Congenital Dyserythropoietic, Type Ii
Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Splenomegaly, Jaundice, Reti... OMIM:224100
Cln5 Disease
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Hyperac... ORPHA:228360
Nephronophthisis
Anemia ORPHA:655
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia OMIM:261630
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis... ORPHA:370022
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Abnormal glucose homeostasis, Distal sensory impairment, Tremor, Inability t... ORPHA:90117
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... ORPHA:2590
Takenouchi-Kosaki Syndrome
Hypospadias, Thrombocytopenia, Cryptorchidism, Increased mean platelet volume OMIM:616737
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Cerebellar atrophy, Myoclonus, Anemia OMIM:614946
Coach Syndrome 3
Oculomotor apraxia, Ataxia, Anemia, Portal fibrosis OMIM:619113
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia OMIM:603278
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... ORPHA:314632
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Rosaï-Dorfman Disease
Paraplegia, Anemia, Paresthesia ORPHA:158014
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia, Opisthotonus, Hypertonia OMIM:250800
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Ataxia-Telangiectasia
Gait disturbance, Type II diabetes mellitus, Tremor, Ataxia, Lymphopenia, Diabetes mellitus, Spas... ORPHA:100
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Babinski sign, Dystonia, Gait imbalance, Choreoathetosis, Hypercholesterolemia, ... ORPHA:64753
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Babinski sign, Cerebellar atrophy, Cerebellar gliosis, Dysmetria, Steppage gait, Myoclonus, Inten... OMIM:616505
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Acroparesthesia, Gait disturbance, Frequent falls, Loss of ambulation, Lower limb spa... ORPHA:206443
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... ORPHA:231222
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Cerebellar hypoplasia, Gai... ORPHA:529665
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Tongu... ORPHA:3095
4H Leukodystrophy
Dystonia, Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Progressiv... ORPHA:289494
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Cirrhosis, Hepatic steatos... OMIM:606069
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus, Difficulty walking OMIM:614018
Spinocerebellar Ataxia 8
Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Abnormal p... OMIM:608768
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Abnormal enzyme/coenzyme activity ORPHA:51208
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy OMIM:617718
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Tremor, Reactive h... ORPHA:276608
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocytopenia, Hemophagocytosis OMIM:613101
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
X-Linked Charcot-Marie-Tooth Disease Type 3
Gait disturbance, Tremor, Inability to walk, Difficulty walking, Spastic paraparesis, Somatic sen... ORPHA:101077
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Pancytopenia, Hepatocellular carcinoma, Anemia, Spleno... ORPHA:158057
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Urocanic Aciduria
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia ORPHA:210128
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis ORPHA:329284
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkinsonism OMIM:261640
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Tremor, Ataxia, Reticulocytosis, Hemolytic anemia ORPHA:713
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Biliary tract abnormality, Abnormality of the liver, Tremor ORPHA:79234
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Writer's cramp, Tremor OMIM:159900
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Ambiguous ge... OMIM:607330
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
Triosephosphate Isomerase Deficiency
Dystonia, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Tremor, Chronic h... OMIM:615512
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Cerebellar atrophy, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem g... OMIM:300623
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Anemia, Ataxia, Hepatic failure, Pancytopenia OMIM:607426
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Gait disturbance, Choreoathetosis, Frequent falls, Steppage gait, Positive Romberg ... ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Steppage gait, Distal sensory impairment, Tremor, Hypertonia, Spasticity OMIM:609260
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnor... ORPHA:101070
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:604213
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Tremor, Ataxia, Low alkaline phosphatase, Lethargy OMIM:201100
Ataxia With Vitamin E Deficiency
Gait disturbance, Dystonia, Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Diabetes m... ORPHA:96
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Cerebellar atrophy, Tremor, Inability to walk, Oculogyric crisis, Difficulty walking ORPHA:330050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dystonia, Neutropenia, Choreoathetosis, Anemia, Pancreatitis, Splenomegaly, Thrombo... ORPHA:79312
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Ataxia, Oculomotor apraxia, Hyperactivity, Spasticity OMIM:612716
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Hepatitis, Anemia, Splenomegaly, Decreased liver function, Elevated ci... ORPHA:158061
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Pontocerebellar atrophy, Tremor, Ataxia, Oculomotor apraxia, Eyelid myoclonus, Incoordination, Ce... OMIM:618060
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Jaberi-Elahi Syndrome
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Tremor, Inability to walk, Spasticity, ... OMIM:617988
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic paraparesis ORPHA:391417
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Hepatomegaly, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... OMIM:615438
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism OMIM:612953
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Dentatorubral Pallidoluysian Atrophy
Impaired proprioception, Involuntary movements, Dyssynergia, Choreoathetosis, Dysmetria, Oromandi... ORPHA:101
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal sensory impairment, Tremor OMIM:616668
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Kufor-Rakeb Syndrome
Babinski sign, Gait disturbance, Dystonia, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... OMIM:606693
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Cerebellar atrophy, Limb hypertonia, Dysmetria, Dilated fourth ventricle, Spastic tetr... ORPHA:572798
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Tremor, Ataxia, Hypertonia, Inability to walk, Cerebellar hypoplasia, Attention deficit hyperacti... OMIM:619556
Gerstmann-Straussler Disease
Cerebellar atrophy, Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticit... OMIM:137440
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Gaucher Disease, Type Ii
Hepatomegaly, Rigidity, Anemia, Splenomegaly, Oculomotor apraxia, Spasticity, Thrombocytopenia OMIM:230900
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Ataxia, Extramedullary hematopoiesis, Increas... ORPHA:822
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Impaired pain sensation, Paraparesis, Tremor, Ataxia ORPHA:99014
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Wilson Disease
Clumsiness, Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic st... ORPHA:905
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
D-Glyceric Aciduria
Chorea, Myoclonus, Increased circulating free fatty acid level, Spasticity, Abnormal enzyme/coenz... ORPHA:941
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Anemia, Spastic tetraparesis, Ataxia, Lethargy OMIM:615838
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar hypoplasia OMIM:619422
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Anemia, Decreased circulating cortisol level OMIM:618838
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp OMIM:608105
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Spinocerebellar Ataxia Type 42
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Cerebell... ORPHA:458803
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency, Ane... OMIM:612714
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopenia ORPHA:84064
Lesch-Nyhan Syndrome
Anemia, Spasticity, Hemiplegia/hemiparesis ORPHA:510
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... OMIM:618877
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Trichohepatoenteric Syndrome 1
Hypospadias, Thrombocytosis, Increased mean platelet volume OMIM:222470
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Dystonia, Hypochromic microcytic anemia, Lower limb spasticity,... ORPHA:66634
Wolfram Syndrome 1
Megaloblastic anemia, Sideroblastic anemia, Tremor, Ataxia, Diabetes mellitus, Thrombocytopenia OMIM:222300
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Dystonia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesia, Larynge... OMIM:606159
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Impaired proprioception, Dystonia, Pontocerebellar atrophy, Cerebellar atrophy, Impaired distal t... OMIM:606002
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Impaired tactile sensation, Gait ataxia OMIM:619092
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Anemia, Hepatocel... ORPHA:79240
Hemochromatosis, Type 3
Neutropenia, Anemia, Cirrhosis, Lymphopenia, Elevated hepatic transaminase OMIM:604250
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Neutropenia, Pancytopenia, Anemia, Splenomegaly, Ataxia, Hypertriglyceridemia, Abno... ORPHA:158048
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Pontocerebellar atrophy, Splenomegaly, Tremor, Ataxia, Elevated hepatic transaminase OMIM:608799
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Lethargy ORPHA:28
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Rigidity, Tremor, Ataxia, Somatic sensory dysfunction OMIM:603472
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty walking OMIM:159950
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume ORPHA:487796
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Rigidity, Shuffling gait, Intention tremor, Ataxia, Resting tremor, Dysdiadochokin... ORPHA:247234
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Anemia, Hepa... ORPHA:264580
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Cerebellar atrophy, Normocytic hypoplastic anemia, Agenes... OMIM:610377
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Aplasia/Hypoplasia of the cerebellum, Abnormal pyramidal sign, Abnormal ... ORPHA:99027
Brain Dopamine-Serotonin Vesicular Transport Disease
Gait disturbance, Dystonia, Shuffling gait, Tremor, Ataxia, Hypertonia, Dysdiadochokinesis, Abnor... ORPHA:352649
Chédiak-Higashi Syndrome
Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Jaundice, Somatic sensory dysfunctio... ORPHA:167
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Leukopenia, Anemia, Splenomegaly, Tetraplegia, Ataxia, Hepatosplenome... OMIM:603553
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia, Abnormal cere... OMIM:618056
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypoglycemia, Anemia, Decreased circulating cortisol level OMIM:618835
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Hypoglycemia, Anemia, Decreased circulating cortisol level OMIM:618839
Dopa-Responsive Dystonia
Gait disturbance, Dystonia, Arm dystonia, Rigidity, Poor coordination, Abnormality of extrapyrami... ORPHA:255
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Babinski sign, Dystonia, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesia, Spastic tet... OMIM:300055
Congenital Bile Acid Synthesis Defect Type 4
Type II diabetes mellitus, Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Tremo... ORPHA:79095
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Leukopenia, Anemia, Splenomegaly, Tetraplegia, Ataxia, Hypertonia, Hypertriglycerid... OMIM:267700
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Hypertriglyceridemia, Pancytopenia, Hemophagocytosis OMIM:618398
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Gait disturbance, Dystonia, Rigidity, Polycythemia, Micronodular cirrhosis, Bradyki... ORPHA:309854
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Anemia, Splenomegaly, Steatorrhea, Hepatic failure ORPHA:75233
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal muscular r... ORPHA:99750
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:240085
Hyperlysinemia, Type I
Hyperactivity, Anemia OMIM:238700
Beta-Thalassemia Major
Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellula... ORPHA:231214
Mental Retardation, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Stereotypy, ... OMIM:617751
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Oculomotor apraxia, Cerebellar v... OMIM:615960
Insulinoma
Paresthesia, Hyperinsulinemic hypoglycemia, Abnormality of pain sensation, Fasting hyperinsulinem... ORPHA:97279
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Propionic Acidemia
Hepatomegaly, Dystonia, Propionyl-CoA carboxylase deficiency, Neutropenia, Hypoglycemia, Limb hyp... OMIM:606054
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
3-Methylglutaconic Aciduria, Type Viii
Tremor, Dystonia, Hypertonia, Neutropenia OMIM:617248
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Sialidosis Type 2
Tremor, Ataxia, Hepatomegaly, Splenomegaly ORPHA:87876
Pancreatic And Cerebellar Agenesis
Cerebellar agenesis, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Anemia, Diabetes mellitu... OMIM:609069
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Bifid scrotum, Methemoglobinemia, Micropenis, Ambiguous genitalia, Male pseudohermap... OMIM:250790
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Increased hepatocellular lipid dro... OMIM:220111
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Anemia, Splenomegaly, Increased circulating lactate d... ORPHA:824
Chediak-Higashi Syndrome
Hepatomegaly, Gait disturbance, Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophi... OMIM:214500
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia OMIM:616435
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Chorea, Spastic hemiparesis, Myoclonus, Spastic dysarthria, Bradykines... ORPHA:282166
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Poor coordination, Abnormality of pain sensation, Tremor, Ataxia, Recurrent han... ORPHA:544254
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Gait disturbance, Anemia, Glycosuria, Decreased liver function, Ataxia, Spastic tet... ORPHA:436271
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Congenital Erythropoietic Porphyria
Paresthesia, Erythroid hyperplasia, Leukopenia, Splenomegaly, Anisocytosis, Poikilocytosis, Retic... ORPHA:79277
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy OMIM:233910
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Neutropenia, Anemia, Decreased methylmalonyl-CoA mutase activity, Tremor, Pancytope... OMIM:251100
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Pancytopenia, Anemia, Persistence of hemoglobin F, Acute myeloid leuke... OMIM:260400
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking ORPHA:306669
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Gait disturbance, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neopla... ORPHA:1454
Abetalipoproteinemia
Impaired proprioception, Steatorrhea, Hepatic fibrosis, Dysmetria, Cirrhosis, Hepatic steatosis, ... ORPHA:14
Typhoid
Hepatomegaly, Splenomegaly, Tremor, Ataxia, Hypertonia, Lethargy ORPHA:99745
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Athetosis, Hepatomegaly, Dystonia, Cerebellar atrophy, Chorea, Speech apraxia, Tremor, Ataxia, He... OMIM:615356
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Anemia, Nodular regenerative hyperplasia of liver, Splenome... ORPHA:64743
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Inability to walk, Cerebellar hypoplasia OMIM:613155
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Tremor, Reticulocytosis, Prolonged neonatal ja... OMIM:274150
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Splenomegaly, Tremor... OMIM:613179
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Wilson Disease
Hepatomegaly, Dystonia, Poor motor coordination, Hepatocellular carcinoma, Glycosuria, Tremor, Ci... OMIM:277900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Genital ulcers, Absent tonsils, Lymph node hypoplasia OMIM:602450
Parkinsonism-Dystonia 2, Infantile-Onset
Dystonia, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric crisis, Gait ataxia OMIM:618049
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Thrombocytopenia, Hypopl... OMIM:619151
Hoyeraal-Hreidarsson Syndrome
Anemia, Ataxia, Hypertonia, Cerebellar hypoplasia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Cerebellar dysplasia, Stereotypy, Tremor, Hyperkinetic m... ORPHA:457240
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ... ORPHA:300298
Pyruvate Dehydrogenase Deficiency
Gait disturbance, Dystonia, Choreoathetosis, Cerebral palsy, Tremor, Ataxia, Spasticity, Abnormal... ORPHA:765
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Stiff-Person Syndrome
Myoclonic spasms, Opisthotonus, Rigidity, Frequent falls, Anemia, Exaggerated startle response, D... OMIM:184850
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Abnormalit... OMIM:614298
Neonatal Lupus Erythematosus
Hepatomegaly, Neutropenia, Pancytopenia, Anemia, Splenomegaly, Abnormality of the liver, Aplastic... ORPHA:398124
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Cholestatic liver disease, Steatorrhea, Cholest... ORPHA:440713
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Rigidity, Myoclonus, Tremor, Ataxia, Abnormality of coord... ORPHA:442835
Short Stature, Microcephaly, And Endocrine Dysfunction
Gait disturbance, Insulin resistance, Dysmetria, Anemia, Ataxia, Cerebellar vermis atrophy, Dysdi... OMIM:616541
Tay-Sachs Disease
Clumsiness, Progressive spasticity, Gait disturbance, Cerebellar atrophy, Dystonia, Frequent fall... ORPHA:845
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Gait disturbance, Dystonia, Rigidity, Eyelid apraxia, Acanthocytosis, Choreoathetos... OMIM:234200
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Lower limb spasticity, Tremor, Hyperactivity, Resting tremor, Broad-based gait, P... ORPHA:3077
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Cirrhosis, Ataxia, Lymphopenia, Cerebellar hypoplasia, Thrombocytopenia, Aplastic anemia OMIM:127550
Saccharopinuria
Distal sensory impairment, Spastic diplegia, Gait ataxia, Tremor ORPHA:3124
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulation in hepatocyt... ORPHA:20
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hyperinsulinemic hypog... ORPHA:71212
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Tremor, Cerebellar vermis hypoplasia, Hyperkinetic movements, Spasticity, Abnor... OMIM:300957
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Tremor, Broad-based gait, Spastic paraplegia, Difficulty walking ORPHA:477673
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Impaired pain sensation, Fasciculations, Vocal cord paresis, Trem... OMIM:619574
Niemann-Pick Disease Type C
Clumsiness, Cataplexy, Bone-marrow foam cells, Progressive gait ataxia, Splenomegaly, Hepatosplen... ORPHA:646
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Paraplegia, T lymphocytopenia, Anemia, Abnormal lymphocyte count, Par... ORPHA:79124
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor, Abnormal cerebellum morphology OMIM:190310
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity OMIM:618718
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Elliptocytosis, Reticulocytosis, ... OMIM:109270
Sneddon Syndrome
Tremor, Chorea, Hemiparesis ORPHA:820
Developmental And Epileptic Encephalopathy 42
Athetosis, Ataxia, Hypertonia, Tremor OMIM:617106
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Anemia, Increased hepatocellular lipid droplets, Glycosuria, Decreased liver functi... OMIM:220110
Autosomal Dominant Spastic Paraplegia Type 9A
Babinski sign, Abnormality of pain sensation, Spastic gait, Spastic dysarthria, Falls, Impaired v... ORPHA:447753
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Pelizaeus-Merzbacher Disease
Dystonia, Head titubation, Choreoathetosis, Tremor, Ataxia, Progressive spastic quadriplegia, Abn... OMIM:312080
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination ORPHA:36387
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Abnormal superior cerebellar peduncle morphology, Anemia, Neoplasm of the pancreas, ... ORPHA:370348
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Hepatocellular carcinoma, Pancreatitis, Hyperchol... ORPHA:247585
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Tremor, Ataxia, Cerebellar edema, Tetraparesis OMIM:617186
Glutaryl-Coa Dehydrogenase Deficiency
Athetosis, Dystonia, Fasting hypoglycemia, Rigidity, Poor motor coordination, Chorea, Tremor, Ata... ORPHA:25
Dystonia 13, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... OMIM:607671
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Tremor, Parkinsonism... ORPHA:240071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Cerebel... OMIM:613153
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Splenomegaly, Lymphopenia, Hypertriglyceridemia, Elevated hepatic transamin... OMIM:617591
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Hepatitis, Anemia, Autoimmune thrombocytopenia, Ty... OMIM:304790