Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
AF4/FMR2 family, member 1
Synonyms:
Af4,  Rob,  9630032B01Rik,  Mllt2h

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Aff1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Aff1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Cerebellar agenesis, Ataxia ORPHA:1397
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis OMIM:125370
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Gliosis, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unstead... OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Cerebral atrophy, Torticollis, Cerebellar atrophy, Frequent falls, Spasticity OMIM:618369
Huntington Disease
Gait ataxia, Gliosis, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity, Neuronal loss in centra... OMIM:143100
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Gliosis, Chorea, Limb ataxia, Ataxia, Brad... OMIM:607136
Immunodeficiency 40
Lymphopenia OMIM:616433
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Cataract, Spastic gait, Cerebellar atrophy OMIM:617133
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Neurodegeneration With Brain Iron Accumulation
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Rigidity, Spa... ORPHA:385
Developmental And Epileptic Encephalopathy 37
Rigidity, Gait disturbance, Hyperkinetic movements, Cerebral atrophy, Cerebellar atrophy, Myoclon... OMIM:616981
Pontocerebellar Hypoplasia, Type 2C
Chorea, Cerebellar hemisphere hypoplasia, Cerebellar vermis hypoplasia, Dystonia OMIM:612390
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... OMIM:618317
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Spinocerebellar Ataxia Type 2
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Cerebellar Purkinje layer atrophy, Chorea... ORPHA:98756
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Choreoathetosis, Abnormality of extrapyramidal motor function OMIM:301020
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Cerebellar at... ORPHA:248111
Pontocerebellar Hypoplasia, Type 2D
Chorea, Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Clonus OMIM:613811
Ataxia-Telangiectasia-Like Disorder
Dysdiadochokinesis, Dystonia, Gait ataxia, Hypergonadotropic hypogonadism, Chorea, Cerebellar ver... ORPHA:251347
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Inability to walk, Gait ataxia, Chorea, Ataxia, Cerebellar vermis atrophy, Dysmetria OMIM:618501
Huntington Disease-Like 1
Basal ganglia gliosis, Incoordination, Global brain atrophy, Chorea, Unsteady gait, Dysmetria, Ri... OMIM:603218
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Cataract, Impaired pain se... ORPHA:2815
Pontocerebellar Hypoplasia, Type 4
Gliosis, Hypertonia, Spasticity, Cerebellar hypoplasia, Loss of Purkinje cells in the cerebellar ... OMIM:225753
Gordon Holmes Syndrome
Infertility, Oligomenorrhea, Cerebral atrophy, Ataxia, Cerebellar atrophy, Hypogonadotropic hypog... OMIM:212840
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Cerebral... OMIM:617672
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... ORPHA:98810
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Bra... ORPHA:79263
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Apraxia, Lethargy, Chorea, Hypertonia, Hemiparesis, Ataxia, Paralysis, Abnormal erythro... ORPHA:71277
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance, Cerebral cortical atrophy, Parkinsonism, Involuntary movement... ORPHA:98934
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Chorea, Remitting, With Nystagmus And Cataract
Chorea, Cataract OMIM:601372
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Inability to walk, Dystonia, Chorea, Cerebral atrophy, Ataxia, Cerebellar atrophy, Involuntary mo... OMIM:617804
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Dysmetria, Babin... OMIM:618093
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Dystonia, Chorea, Gait disturbance, Ataxia, Craniofacial dystonia, Myoclonus, Involuntary movemen... OMIM:617282
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Paroxysmal Exertion-Induced Dyskinesia
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... ORPHA:98811
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia, Dystonia OMIM:611031
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Cogwheel rigidity, Choreoathetosis, Gait ataxia, Basal ganglia gliosis, Atrophy/Deg... ORPHA:225154
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Ataxia, Dilated fourth ventricle, Torticollis, Cerebellar vermis atrophy, Babinski sign, Limb dys... OMIM:619054
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, Cerebral corti... ORPHA:320391
Hypertrophic Neuropathy And Cataract
Cataract, Distal sensory impairment OMIM:239900
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract, Cerebellar vermis hypoplasia, Dandy-Walker malformation ORPHA:73245
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Cataract 11, Multiple Types
Chorea, Hypertonia, Cataract OMIM:610623
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Chore... OMIM:618088
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Gliosis, Chorea, Slurred speech, Poor fine motor coordin... ORPHA:157941
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis OMIM:614820
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Cerebral atrophy, Thrombocytopenia, Cerebellar atrophy, Myoclonus, Anemia, Atrophy/Degen... OMIM:614946
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular dystonia, Pa... ORPHA:216873
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Rigidity, Progressive choreoathetosis OMIM:118750
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Cryptorchidism, Dystonia, Gait ataxia, Chorea, Cerebral atrophy, Cerebellar at... OMIM:618917
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Cerebral... ORPHA:397946
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Chorea, Developmental cataract, Gait disturbance OMIM:607674
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Paralysis, Ataxia, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Developmental And Epileptic Encephalopathy 40
Cerebral cortical atrophy, Choreoathetosis, Myoclonus, Spasticity OMIM:617065
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Developmental And Epileptic Encephalopathy 14
Gliosis, Cerebral cortical atrophy, Tetraplegia, Clonus, Neuronal loss in central nervous system,... OMIM:614959
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Slurred speech, Gait disturbance, Bradykin... ORPHA:98755
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dense calcifications in the cerebellar dentate nucleus, Limb dysmetri... OMIM:213600
Striatonigral Degeneration, Infantile, Mitochondrial
Difficulty walking, Frequent falls, Paroxysmal choreoathetosis, Babinski sign OMIM:500003
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Infertility, Limb dysmetria, Head tremor, Upper limb spasticity, Knee clonus,... OMIM:614409
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Developmental cataract, Hypergonadotropic hypogonadism, Chorea, Cerebral atrophy, Ataxia, Primary... OMIM:604168
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Dystonia, Chorea, Cerebral atrophy, Hyperkinetic movements, Oculogyric crisis,... OMIM:614254
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Dystonia, Hyperkinetic movements, Cerebral atrophy, Myoclonus, Choreoathetosis OMIM:618497
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gliosis, Gait disturbance, Degeneration of anterior horn cells, Distal sensory impairment, Tetrap... OMIM:604484
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Spastic Paraparesis And Deafness
Hypogonadism, Cataract, Tremor, Spastic paraparesis OMIM:312910
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Lower limb spasticity, Cataract, Aplasia/Hypoplasia of the cerebellar ... ORPHA:401830
Machado-Joseph Disease
Dystonia, Truncal ataxia, Impaired vibratory sensation, Gliosis, Abnormality of extrapyramidal mo... OMIM:109150
Dysequilibrium Syndrome
Cataract, Gait disturbance, Cerebral palsy, Ataxia ORPHA:1766
Spastic Paraplegia 50, Autosomal Recessive
Spastic paraplegia, Gliosis, Cerebellar atrophy, Spastic tetraplegia, Babinski sign, Cerebral palsy OMIM:612936
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Reticulocytosis, Cerebral atrophy, Ataxia, Choreoathetosis OMIM:612126
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Gliosis, Corpus callosum atrophy, Autonomic erectile dysfunction, Impoten... OMIM:169500
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Cerebellar atrophy, Choreoathetosis, Spasticity OMIM:612438
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy OMIM:619150
3-Methylglutaconic Aciduria, Type Iii
Abnormality of extrapyramidal motor function, Chorea, Ataxia, Babinski sign, Spasticity OMIM:258501
Striatal Degeneration, Autosomal Dominant 2
Chorea, Parkinsonism OMIM:616922
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Hypertonia, Cerebral atrophy, Cataract, Cerebellar atrophy, Spasticity OMIM:615095
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Dystonia, Episodic quadriplegia, Tetraplegia, Choreoathetosis OMIM:104290
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal... ORPHA:277
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Cataract, Cerebellar atro... OMIM:224050
Dystonia With Ringbinden
Chorea, Dystonia, Gait disturbance OMIM:224550
3-Methylglutaconic Aciduria, Type Vii
Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Cerebral atrophy, Neutrope... OMIM:616271
Autosomal Recessive Spastic Paraplegia Type 26
Pseudobulbar paralysis, Dystonia, Impaired vibration sensation at ankles, Gait disturbance, Cereb... ORPHA:101006
Basal Ganglia Calcification, Idiopathic, 6
Involuntary movements, Choreoathetosis, Parkinsonism OMIM:616413
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Chorea, Benign Hereditary
Chorea, Gait disturbance OMIM:118700
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Apraxia, Gliosis, Abnormality of extrapyramidal... ORPHA:275872
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Cer... ORPHA:204
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Abnormality of extrapyramidal motor function... OMIM:204200
Childhood-Onset Benign Chorea With Striatal Involvement
Chorea, Parkinsonism with favorable response to dopaminergic medication ORPHA:494541
Mental Retardation, Autosomal Dominant 6, With Or Without Seizures
Chorea, Dystonia, Spasticity OMIM:613970
Huntington Disease
Inability to walk, Dystonia, Clumsiness, Difficulty walking, Chorea, Gait disturbance, Poor fine ... ORPHA:399
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Lower limb spasticity, Cer... OMIM:604391
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia ORPHA:67047
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Apraxia, Gliosis, Bradykinesia, Rigidity, Neuronal loss in central nervous system, Shuffling gait... OMIM:221820
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Spinocerebellar Ataxia 1
Dysdiadochokinesis, Impaired pain sensation, Truncal ataxia, Impaired vibratory sensation, Parest... OMIM:164400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Gait ataxia, Truncal ataxia, Axonal degeneration, Dystonia, Limb ataxia, Oculomotor aprax... OMIM:208920
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Cataract, Cerebellar atrophy, Dysmetria, Choreo... OMIM:617988
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... OMIM:618218
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Limb dysmetria, Cataract, Spastic gait, Lower limb spasticity, Impaired vibra... OMIM:270800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Gliosis, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morpho... OMIM:105550
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Tremor, Gait ataxia, Clumsiness, Global brain atrophy, Senile plaques, Spastic hemi... ORPHA:282166
Leukoencephalopathy With Vanishing White Matter
Lethargy, Gliosis, Gait disturbance, Primary amenorrhea, Unsteady gait, Secondary amenorrhea, Dec... OMIM:603896
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Striatonigral Degeneration, Infantile
Dystonia, Choreoathetosis, Spasticity OMIM:271930
Mu-Heavy Chain Disease
Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Spastic Paraplegia 26, Autosomal Recessive
Spastic paraplegia, Dystonia, Difficulty walking, Toe walking, Ataxia, Cerebral cortical atrophy,... OMIM:609195
Developmental And Epileptic Encephalopathy 27
Chorea, Dystonia, Spasticity OMIM:616139
Mitochondrial Dna Depletion Syndrome 17
Chorea, Spastic tetraparesis, Hemiballismus, Cerebral atrophy, Cerebellar atrophy OMIM:618567
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Myoclonus, Distal sensor... OMIM:604218
Encephalopathy, Recurrent, Of Childhood
Incoordination, Truncal ataxia, Lethargy, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Spinocerebellar Ataxia 47
Chorea, Ataxia, Cerebellar vermis atrophy, Dysmetria, Spasticity OMIM:617931
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Pontocerebellar Hypoplasia, Type 2B
Dystonia, Chorea, Cerebral atrophy, Cerebellar hypoplasia, Opisthotonus, Limb hypertonia, Cerebel... OMIM:612389
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Abnormal pyramidal sign, Cerebral atrophy, Neurodegeneration, Ataxia, Cerebellar atrophy... OMIM:256600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Lethargy, Ataxia, Bradykinesia OMIM:618683
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Stereotypy OMIM:617270
Acetyl-Coa Acetyltransferase-2 Deficiency
Chorea OMIM:614055
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... ORPHA:53583
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Hemiparesis, Gliosis OMIM:613002
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Gliosis, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Cerebellar dysp... ORPHA:457240
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea, Dystonia, Inability to walk OMIM:618760
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Frontotemporal cerebral atrophy,... ORPHA:391417
Chorea, Benign Familial
Chorea OMIM:215450
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Dystonia, Chorea, Neurodegeneration, Blepharospasm, Ataxia, Bradykinesia... OMIM:606159
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, Dystonia, Axial dystonia, Upper limb spasticity, Chorea, Hypertonia, Difficult... ORPHA:300605
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Cimdag Syndrome
Developmental cataract, Dystonia, Chorea, Pontocerebellar atrophy, Cerebellar vermis hypoplasia, ... OMIM:619273
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
2,4-Dienoyl-Coa Reductase Deficiency
Dystonia, Cerebral atrophy, Tetraplegia, Choreoathetosis, Spasticity OMIM:616034
Congenital Neuronal Ceroid Lipofuscinosis
Gliosis, Cerebellar hypoplasia, Cerebellar atrophy, Abnormal astrocyte morphology, Spasticity ORPHA:168486
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ankle clonus, Ataxia, Pancytopenia, Thrombocytopenia,... OMIM:159550
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Chorea, Hypertonia, Hype... ORPHA:13
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Difficulty walking, Chorea, Cataract, Waddling gait ORPHA:369840
Spinocerebellar Ataxia, X-Linked 3
Unilateral vocal cord paralysis, Incoordination, Lethargy, Gliosis, Head titubation, Cerebellar a... OMIM:301790
L-2-Hydroxyglutaric Aciduria
Gliosis, Corpus callosum atrophy, Global brain atrophy, Abnormality of extrapyramidal motor funct... OMIM:236792
Early-Onset X-Linked Optic Atrophy
Dysdiadochokinesis, Gait ataxia, Babinski sign, Intention tremor, Choreoathetosis ORPHA:98890
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Hypochromic anemia, Dystonia, Microcytic anemia, Chorea, Babinski sign, Choreoathetosis, Spasticity OMIM:618451
Leukodystrophy, Hypomyelinating, 4
Progressive spasticity, Choreoathetosis, Babinski sign OMIM:612233
4H Leukodystrophy
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Huntington Disease-Like 3
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... ORPHA:157946
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Splenomegaly, Frequen... OMIM:616719
Huntington Disease-Like 2
Dystonia, Chorea, Bradykinesia, Action tremor, Rigidity OMIM:606438
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Choreoathetosis OMIM:261640
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Tremor, Gliosis, Gait disturbance, Hyperkinetic movements, Cerebellar vermis hypo... OMIM:300957
Developmental And Epileptic Encephalopathy 1
Dystonia, Global brain atrophy, Erratic myoclonus, Hypertonia, Abnormal pyramidal sign, Spastic t... OMIM:308350
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... ORPHA:500180
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Cerebral atrophy, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle clonus, Progressive c... ORPHA:284289
Huntington Disease-Like 3
Dystonia, Frontal cortical atrophy, Abnormality of extrapyramidal motor function, Chorea, Abnorma... OMIM:604802
Ataxia-Telangiectasia
Conjunctival telangiectasia, T lymphocytopenia, Tremor, Dystonia, Decreased proportion of CD4-pos... OMIM:208900
Aceruloplasminemia
Hypochromic microcytic anemia, Tremor, Gait ataxia, Dystonia, Akinesia, Chorea, Limb ataxia, Blep... ORPHA:48818
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Schimke X-Linked Mental Retardation Syndrome
Choreoathetosis, Spasticity OMIM:312840
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Dystonia, Gliosis, Amyotrophic lateral sclerosis, Paralysis, Athetosis OMIM:300857
Pontocerebellar Hypoplasia, Type 8
Chorea, Astigmatism, Cerebellar hypoplasia, Spasticity OMIM:614961
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Gliosis, Hypertonia, Babinski sign, Clonus, Myoclonic spasms, Rigidity, Neuronal loss in central ... OMIM:614498
Sydenham Chorea
Chorea, Unsteady gait, Hemiballismus ORPHA:306731
Pontocerebellar Hypoplasia, Type 2A
Gliosis, Cerebellar hypoplasia, Opisthotonus, Cerebral cortical atrophy, Extrapyramidal dyskinesi... OMIM:277470
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Xylosidase Deficiency
Choreoathetosis OMIM:278900
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Myoclonus, Global brain atrophy OMIM:609056
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Apraxia, Gliosis, Gait disturbance, Cerebral atrophy, Abnormal upper motor neuron morphology, Myo... OMIM:221770
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Tremor, Gait ataxia, Dystonia, Head tremor, Chorea, Progressive gait... OMIM:606002
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereotypy, Chore... OMIM:619317
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Macroorchidism, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuff... OMIM:300055
Developmental And Epileptic Encephalopathy 64
Inability to walk, Dystonia, Chorea, Cerebellar hypoplasia, Hemiparesis, Cerebral cortical atroph... OMIM:618004
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Cerebrooculofacioskeletal Syndrome 1
Cataract, Cerebellar hypoplasia, Gliosis OMIM:214150
Pettigrew Syndrome
Gait ataxia, Choreoathetosis, Dandy-Walker malformation, Spasticity OMIM:304340
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Lethargy, Gliosis, Chorea, Cerebral atrophy, Neurodegeneration, Ataxia, Pancytopenia OMIM:618321
3-Methylglutaconic Aciduria Type 7
Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor function, Hypot... ORPHA:445038
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Lethargy, Chorea, Neutropenia, Hemiplegia/hemiparesis, Thrombocytopenia, Anemia, Choreo... ORPHA:289916
Neuroferritinopathy
Dystonia, Palatal myoclonus, Chorea, Difficulty walking, Blepharospasm, Resting tremor, Bradykine... ORPHA:157846
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphadenitis, Lymphopenia, Abnormally low T cell receptor exci... OMIM:618986
Mitochondrial Complex I Deficiency, Nuclear Type 26
Dystonia, Cerebral atrophy, Limb hypertonia, Cerebellar atrophy, Choreoathetosis OMIM:618247
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Alpers-Huttenlocher Syndrome
Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... ORPHA:726
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Pyruvate Dehydrogenase E1-Alpha Deficiency
Episodic ataxia, Lethargy, Dystonia, Cerebral atrophy, Choreoathetosis OMIM:312170
Ataxia-Pancytopenia Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neutrophils, Abnormal macrophage morphology,... ORPHA:2585
Hemimegalencephaly
Myoclonus, Abnormal neuron morphology, Hemiparesis, Gliosis ORPHA:99802
Pick Disease Of Brain
Gliosis, Stereotypy, Neuronal loss in central nervous system OMIM:172700
Leukodystrophy, Hypomyelinating, 2
Dystonia, Choreoathetosis, Spastic paraparesis, Cerebral atrophy, Head titubation, Ataxia, Babins... OMIM:608804
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Ataxia, Cerebellar atrophy, Testicular atrophy OMIM:613909
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Hyperactivity, Chorea, Hypertonia, Cerebral atrophy, N... OMIM:610217
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Mitochondrial Complex I Deficiency, Nuclear Type 16
Dystonia, Caudate atrophy, Adrenal insufficiency, Spastic tetraplegia, Choreoathetosis, Spasticity OMIM:618238
Aceruloplasminemia
Cogwheel rigidity, Abnormality of extrapyramidal motor function, Chorea, Blepharospasm, Ataxia, T... OMIM:604290
Infantile Dystonia-Parkinsonism
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Limb hypertonia, Oculogyric ... ORPHA:238455
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Gliosis, Difficulty walking, Cerebellar hypoplasia, Ataxia, Lower limb spastic... ORPHA:280210
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Truncal ataxia, Difficulty walking, Chorea, Hyperkinetic movements, Cerebral atrophy, Cataract ORPHA:369847
Combined Oxidative Phosphorylation Deficiency 27
Dystonia, Chorea, Cerebral atrophy, Tetraparesis, Cerebellar hypoplasia, Opisthotonus, Myoclonus OMIM:616672
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Head tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Soma... ORPHA:64753
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Upper limb spasticity, Chorea, Progressive cerebellar ataxia, Lower limb spastici... ORPHA:485350
Friedreich Ataxia
Inability to walk, Dystonia, Gait ataxia, Limb ataxia, Chorea, Poor fine motor coordination, Inte... ORPHA:95
Neurodevelopmental Disorder With Involuntary Movements
Dystonia, Chorea, Hyperkinetic movements, Cerebral atrophy, Involuntary movements, Athetosis, Spa... OMIM:617493
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Dystonia, Hypertonia, Ce... OMIM:618877
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Gliosis OMIM:125700
Episodic Ataxia Type 1
Clumsiness, Hypertonia, Poor coordination, Cerebellar atrophy, Tip-toe gait, Choreoathetosis ORPHA:37612
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Infantile Convulsions And Choreoathetosis
Dystonia, Chorea, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Choreoathetosis ORPHA:31709
Paroxysmal Kinesigenic Dyskinesia
Dystonia, Chorea, Writer's cramp, Involuntary movements, Athetosis ORPHA:98809
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Combined Oxidative Phosphorylation Deficiency 13
Cataract, Dystonia, Choreoathetosis OMIM:614932
Peroxisome Biogenesis Disorder 8B
Spastic paraparesis, Corpus callosum atrophy, Ataxia, Cataract, Cerebellar vermis atrophy, Dysmet... OMIM:614877
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Spastic tetraparesis, Cerebral atrophy, Cataract, Cerebellar vermis atrophy, Dandy-Walker malform... OMIM:616154
Dystonia 9
Spastic paraplegia, Episodic ataxia, Dystonia, Paresthesia, Abnormal pyramidal sign, Choreoathetosis OMIM:601042
Pyruvate Dehydrogenase E1-Alpha Deficiency
Inability to walk, Basal ganglia gliosis, Dystonia, Gliosis, Cerebellar cyst, Cerebral atrophy, A... ORPHA:79243
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Chorea, Hypertonia, Cerebral cortical atrophy, Spastic tetraplegia, Attention ... OMIM:617864
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Chorea, Lymphopenia, Hemolytic anemia OMIM:616744
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Cerebellar cyst, Cerebellar vermis hypoplasia, Lower limb hypertonia, Spasti... ORPHA:2524
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Chorea, Paroxysmal dyskinesia ORPHA:79137
Classic Galactosemia
Cryptorchidism, Dystonia, Clumsiness, Speech apraxia, Decreased serum insulin-like growth factor ... ORPHA:79239
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Mannosidosis, Alpha B, Lysosomal
Gait ataxia, Gliosis, Corpus callosum atrophy, Vacuolated lymphocytes, Limb ataxia, Abnormal pyra... OMIM:248500
Nasu-Hakola Disease
Chorea, Oculomotor apraxia, Cerebral cortical atrophy, Acute leukemia, Spasticity ORPHA:2770
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Cogwheel rigidity, Gait ataxia, Dystonia, Lethargy, Chorea, Hypertonia, Abnorm... OMIM:607483
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Gliosis, Cerebellar hypoplasia, Head titubation, Thrombocytopenia,... ORPHA:3240
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Paraparesis, Tetraparesis, Ataxia, Thrombocytopenia, Leukopenia, Anemia, Choreoathetosi... ORPHA:27
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Myoclonus, Stereotypy, S... ORPHA:561854
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Developmental And Epileptic Encephalopathy 17
Chorea, Athetosis, Cerebral atrophy, Dystonia OMIM:615473
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Cach Syndrome
Truncal ataxia, Limb ataxia, Cerebral atrophy, Spastic diplegia, Hemiparesis, Primary amenorrhea,... ORPHA:135
Sulfite Oxidase Deficiency, Isolated
Hemiplegia, Hypertonia, Ectopia lentis, Ataxia, Generalized dystonia, Choreoathetosis OMIM:272300
Tay-Sachs Disease
Inability to walk, Tremor, Incoordination, Clumsiness, Gliosis, Dystonia, Global brain atrophy, G... ORPHA:845
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:602066
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor, Ataxia, Spasticity OMIM:278780
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Reduction of oligodendroglia, Progressive spastic quadriplegia, Abnormal pyrami... OMIM:312080
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Tremor, Dystonia, Speech apraxia, Difficulty walking, Chorea, Hyperkinetic mov... OMIM:615356
Basal Ganglia Calcification, Idiopathic, 5
Chorea, Athetosis, Parkinsonism, Motor tics OMIM:615483
Sneddon Syndrome
Chorea, Tremor, Hemiparesis ORPHA:820
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Dyskinesia, Familial, With Facial Myokymia
Chorea, Limb hypertonia, Resting tremor, Dystonia OMIM:606703
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Inability to walk, Gliosis, Retractile testis, Upper limb spasticity, Ataxia, Lower limb spastici... OMIM:617193
Leber Congenital Amaurosis 2
Keratoconus, Cerebellar vermis hypoplasia, Eye poking, Cataract OMIM:204100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Paresthesia, Abnormal pyramidal sign, Ataxia, Cerebral cortical atrophy, Cataract, Microcornea, D... ORPHA:48431
Autosomal Recessive Spastic Paraplegia Type 5A
Spastic paraplegia, Truncal ataxia, Impaired vibratory sensation, Upper limb spasticity, Limb ata... ORPHA:100986
Usher Syndrome Type 1
Aplasia/Hypoplasia of the cerebellum, Iris hypopigmentation, Ataxia, Subcortical cerebral atrophy... ORPHA:231169
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, Cerebral palsy, Spasticity OMIM:618557
Allan-Herndon-Dudley Syndrome
Cryptorchidism, Dystonia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, ... ORPHA:59
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis, Hypertonia, Paralysis, Ataxia, Cerebellar atrophy, Myoclonus, Bile duct pr... OMIM:203700
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia OMIM:257970
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Choreoathetosis ORPHA:79312
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Thrombocytopenia, Cataract, Dysgenesis of the cerebellar vermis, Spasticity ORPHA:67048
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Neurodegeneration, Cerebellar atrophy, Neuronal loss in central nervous system, Spasticity OMIM:616239
Galactosemia
Postural tremor, Cryptorchidism, Dystonia, Lethargy, Speech apraxia, Abnormality of extrapyramida... ORPHA:352
Progressive Supranuclear Palsy
Tremor, Dystonia, Gliosis, Blepharospasm, Bradykinesia, Cerebral cortical atrophy, Unsteady gait,... ORPHA:683
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Choreoathetosis OMIM:617519
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Choreoathetosis, Ataxia OMIM:618416
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Dystonia, Lethargy, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis OMIM:233910
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Cerebellar atrophy, Subcapsular cataract, Dysmetria, Intention tremor, Distal sensory imp... OMIM:612674
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Choreoathetosis, Oculomotor apraxia, Ataxia OMIM:245348
Gastrointestinal Defects And Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Hypoplasia of the thymus OMIM:243150
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Spastic tetraplegia, Choreoathetosis, Spasticity OMIM:300438
Leigh Syndrome
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Chorea, Hyperkinetic movements, ... ORPHA:506
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Oculomotor apraxia, Head titubation, Ataxia, Cerebellar dysplasia, Dilated fourt... ORPHA:370022
Mevalonic Aciduria
Cerebral cortical atrophy, Cataract, Ataxia, Splenomegaly ORPHA:29
De Sanctis-Cacchione Syndrome
Ataxia, Conjunctivitis, Cerebellar atrophy, Keratitis, Olivopontocerebellar atrophy, Choreoatheto... OMIM:278800
X-Linked Intellectual Disability, Schimke Type
Cerebral cortical atrophy, Choreoathetosis, Spasticity ORPHA:85285
Leigh Syndrome
Dystonia, Gliosis, Ataxia, Spasticity OMIM:256000
Primary Non-Essential Cutis Verticis Gyrata
Developmental cataract, Gliosis ORPHA:357225
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Gait disturbance, Abnormal pyramidal sign, Ataxia, Choreoathetosis, C... ORPHA:765
Maternally-Inherited Diabetes And Deafness
Aplasia/Hypoplasia of the cerebellum, Cataract, Ataxia, Type II diabetes mellitus ORPHA:225
Srd5A3-Cdg
Microcytic anemia, Hypothyroidism, Ataxia, Cataract, Abnormal cerebellum morphology, Cerebellar a... ORPHA:324737
Pandas
Tics, Chorea, Clumsiness, Attention deficit hyperactivity disorder ORPHA:66624
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia OMIM:604213
Gm2-Gangliosidosis, Ab Variant
Dystonia, Chorea, Hypertonia, Abnormal pyramidal sign, Spastic tetraparesis, Cerebral atrophy, Pa... OMIM:272750
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Hypoplasia of the pons, Impaired vibratory sensation, Limb ataxia, Impoten... ORPHA:98760
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... OMIM:606367
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Chorea, Eyelid myoclonus, Cerebral atrophy, Oculogyric crisis, Stereotypy, Spasticity ORPHA:178469
Hsd10 Disease, Infantile Type
Dystonia, Spastic tetraparesis, Poor coordination, Spastic diplegia, Hyperkinetic movements, Fron... ORPHA:391428
Gm2 Gangliosidosis, Ab Variant
Dystonia, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal sign, Cerebral atrophy, Ne... ORPHA:309246
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Autosomal Dominant Optic Atrophy, Classic Form
Spastic paraplegia, Corpus callosum atrophy, Hypothyroidism, Gait disturbance, Hemiparesis, Ataxi... ORPHA:98673
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Dystonia, Progressive spastic quadriplegia, Cerebellar atrophy, Choreoathetosis, Nonprogressive c... ORPHA:431361
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Dystonia, Cerebral atrophy, Neutropenia, Ataxia, Cataract, Cerebellar atrophy, Choreoathetosis OMIM:615471
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Dystonia, Apraxia, Clumsiness, Incoordination, Hypoparathyroidism, Hy... ORPHA:209905
Bilateral Frontoparietal Polymicrogyria
Abnormal pyramidal sign, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Abnormal cerebellum ... ORPHA:101070
Cerebrotendinous Xanthomatosis
Dystonia, Gliosis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Global brain ... ORPHA:909
Sporadic Infantile Bilateral Striatal Necrosis
Hemiplegia, Dystonia, Gait ataxia, Chorea, Gait disturbance, Resting tremor, Bradykinesia, Progre... ORPHA:225147
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Inability to walk, Cerebellar dysplasia, Developmental cataract, Cerebellar hypoplasia OMIM:613155
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Lymphadenitis, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Steppage gait, Hypertonia, Intention tremor, Ataxia, Cerebellar atrophy, Myo... OMIM:616505
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tremor, Gliosis, Ataxia OMIM:220111
Dextrocardia With Unusual Facies And Microphthalmia
Choreoathetosis OMIM:221950
Severe Oculo-Renal-Cerebellar Syndrome
Aplasia/Hypoplasia of the cerebellum, Spastic diplegia, Cataract, Choreoathetosis, Spasticity ORPHA:2715
Birk-Landau-Perez Syndrome
Dystonia, Difficulty walking, Oculomotor apraxia, Ataxia, Limb hypertonia, Choreoathetosis OMIM:617595
Choreoacanthocytosis
Dystonia, Tics, Self-mutilation of tongue and lips due to involuntary movements, Parkinsonism, Pr... OMIM:200150
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Choreoathetosis, Tremor, Motor tics, Dystonia, Abnormality of extrapyramidal moto... OMIM:234200
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Streak ovary, Primary amenorrhea, Female infertil... OMIM:612310
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Cataract, C... ORPHA:3085
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cataract, Cerebellar hypoplasia, Spasticity OMIM:613730
Senior-Loken Syndrome
Cataract, Premature ovarian insufficiency, Ataxia ORPHA:3156
Niemann-Pick Disease Type C
Dystonia, Axial dystonia, Clumsiness, Speech apraxia, Cerebellar vermis atrophy, Upper motor neur... ORPHA:646
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Leigh Syndrome With Cardiomyopathy
Basal ganglia gliosis, Dystonia, Global brain atrophy, Chorea, Hypertonia, Ataxia, Anemia, Involu... ORPHA:70474
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Absent natural killer ... OMIM:600802
Alpha-Mannosidosis, Adult Form
Clumsiness, Corneal opacity, Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cer... ORPHA:309288
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Myoclonus OMIM:617235
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Abnormal proportion of CD4-positive T cells, Paresthesia, Abnormal oligodendroglia m... ORPHA:217260
Combined Oxidative Phosphorylation Defect Type 13
Developmental cataract, Choreoathetosis, Lower limb hypertonia, Limb dystonia ORPHA:319514
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Degeneration of anterior horn cells, Parkinsonism, Gliosis, Trophic limb changes OMIM:118301
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gliosis, Gait disturbance, Resting tremor, Bradykinesia, Parkinsonism, Myoclonus, Rigid... OMIM:168601
Thymoma
Hemolytic anemia, Thyroiditis, Abnormal lymphocyte morphology, Neoplasm of the thymus, Pancytopen... ORPHA:99867
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism, Cataract, Elevated circulating follicle stimulating... OMIM:240950
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Spasticity OMIM:308950
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Brushfield spots, Hypoplasia of the thymus, Cataract, Opacification of the cornea... OMIM:214110
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Choreoathetosis, Abnormality of extrapyramidal motor function, Tics, Pallidal degenerat... ORPHA:157850
X-Linked Creatine Transporter Deficiency
Dystonia, Chorea, Hypertonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Developmental And Epileptic Encephalopathy 29
Dystonia, Chorea, Cerebral atrophy, Blepharospasm, Spasticity OMIM:616339
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Tetraplegia, Hypertonia, Spastic tetraplegia, Gliosis OMIM:608033
Lissencephaly, X-Linked, 2
Decreased testicular size, Gliosis, Spasticity OMIM:300215
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Inability to walk, Hemolytic anemia, Hypertonia, Ataxia, Cataract, Splenomegaly, Spasticity OMIM:608885
Papillorenal Syndrome
Lens luxation, Cataract, Arnold-Chiari type I malformation, Gliosis OMIM:120330
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Ataxia, Cerebral cortical atrophy, Choreoathetosis, Spasticity ORPHA:702
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Cerebellar atrophy, Cerebral atrophy, Developmental cataract OMIM:614482
Marinesco-Sjögren Syndrome
Hypertonia, Cerebellar hypoplasia, Ataxia, Hypogonadism, Cataract, Abnormal cerebellar vermis mor... ORPHA:559
Methylmalonic Acidemia And Homocysteinemia, Cblx Type
Chorea, Athetosis OMIM:309541
Combined Oxidative Phosphorylation Deficiency 32
Inability to walk, Dystonia, Choreoathetosis, Spasticity OMIM:617664
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Corneal opacity, Cataract, Dandy-Wa... OMIM:613153
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Cryptorchidism, Pain insensitivity, Chorea, Ataxia, Lower limb spasticity, Ste... OMIM:300260
Snijders Blok-Fisher Syndrome
Opisthotonus, Cryptorchidism, Choreoathetosis, Spasticity OMIM:618604
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Cryptorchidism, Gliosis, Cerebral atrophy, Cerebellar hypoplasia, Central nervous system degenera... OMIM:602613
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Dystonia, Gliosis, Chorea, Hyperkinetic movements, Oculomotor apraxia, Cerebra... ORPHA:404454
Molybdenum Cofactor Deficiency, Complementation Group B
Gliosis, Lens luxation, Hypertonia, Cerebral atrophy, Ectopia lentis, Opisthotonus, Spastic tetra... OMIM:252160
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Cataract, Conjunctivitis, Keratitis, Keratoconjunctivitis sicca, Corneal neovascularizati... OMIM:278730
Metachromatic Leukodystrophy, Adult Form
Dystonia, Clumsiness, Progressive gait ataxia, Chorea, Progressive spastic quadriplegia, Neoplasm... ORPHA:309271
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Glutaryl-Coa Dehydrogenase Deficiency
Tremor, Dystonia, Pallidal degeneration, Poor motor coordination, Chorea, Ataxia, Limb dystonia, ... ORPHA:25
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Azoospermia, Streak ovary, Unilateral cryptorchidism, Female i... ORPHA:261529
Cockayne Syndrome
Cryptorchidism, Gliosis, Hypertonia, Delayed puberty, Corneal ulceration, Spasticity, Ataxia, Cat... ORPHA:191
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Spastic tetraparesis, Cataract, Cerebellar atrophy, Cerebral cortical atrophy, Clonus OMIM:617481
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Hereditary Late-Onset Parkinson Disease
Dystonia, Gliosis, Parkinsonism with favorable response to dopaminergic medication, Akinesia, Res... ORPHA:411602
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Oculomotor apraxia, Cerebellar dysplasia, Dilated ... OMIM:615960
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Leber Congenital Amaurosis
Hemiplegia/hemiparesis, Keratoconus, Cataract, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:65
Metachromatic Leukodystrophy
Dystonia, Chorea, Gait disturbance, Ataxia, Spastic tetraplegia, Babinski sign, Tetraplegia OMIM:250100
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Torticollis, Limb hypertonia, Exaggerated startle response,... OMIM:608643
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Impaired vibratory sensation, Gait disturbance, Dysfunction of lateral cortic... OMIM:601162
Supranuclear Palsy, Progressive, 1
Tremor, Eyelid apraxia, Axial dystonia, Gliosis, Akinesia, Gait imbalance, Bradykinesia, Parkinso... OMIM:601104
Mental Retardation, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia, Dilated fourth ventric... OMIM:617751
Familial Acute Necrotizing Encephalopathy
Gliosis, Hypertonia, Gait disturbance, Spastic tetraplegia, Rigidity, Spasticity ORPHA:88619
Kleefstra Syndrome Due To A Point Mutation
Developmental cataract, Cerebellar hypoplasia, Gliosis, Precocious puberty ORPHA:261652
Alpha-N-Acetylgalactosaminidase Deficiency
Cerebellar hypoplasia, Cerebral cortical atrophy, Cataract, Tetraplegia, Clonus, Spasticity ORPHA:3137
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Gait ataxia, Corneal opacity, Cataract, Spastic gait, Cerebellar atrophy, Delayed... ORPHA:496790
Lesch-Nyhan Syndrome
Dystonia, Abnormality of extrapyramidal motor function, Megaloblastic anemia, Opisthotonus, Testi... OMIM:300322
Developmental And Epileptic Encephalopathy 84
Dystonia, Chorea, Opisthotonus, Babinski sign, Spasticity OMIM:618792
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory ataxia, Gait disturbance, Cerebral atrophy, Cataract, Abnormality of the thyroid gland, P... OMIM:609286
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hypochromic anemia, Iris hypopigmentation, Abnormality of n... ORPHA:2720
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Speech apraxia, Paroxysmal dyskinesia, Arnold-Chiari type I malformation, Stereotypy, C... ORPHA:261197
Supranuclear Palsy, Progressive, 2
Postural tremor, Eyelid apraxia, Axial dystonia, Gliosis, Akinesia, Gait imbalance, Bradykinesia,... OMIM:609454
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Gliosis, Cerebral cortical atrophy, Parkinsonism, Repetitive compulsive behavior, Neuron... OMIM:607485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Syndromic Diarrhea
Thrombocytosis, Hypothyroidism, Lymphopenia, Increased mean platelet volume, Hypoplasia of the th... ORPHA:84064
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc... ORPHA:2442
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Hypergonadotropic h... OMIM:157640
Mevalonic Aciduria
Leukocytosis, Cerebral atrophy, Nuclear cataract, Ataxia, Thrombocytopenia, Progressive cerebella... OMIM:610377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Cataract, Hypoplasia of the pons OMIM:615181
Chromosome 18Q Deletion Syndrome
Cryptorchidism, Tremor, Chorea, Poor coordination, Cerebellar hypoplasia, Broad-based gait, Decre... OMIM:601808
Japanese Encephalitis
Pill-rolling tremor, Tremor, Cogwheel rigidity, Dystonia, Abnormality of extrapyramidal motor fun... ORPHA:79139
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal... ORPHA:293978
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Compensated hypothyroidism, Gonadotropin deficiency, Dystonia, Difficulty walking, Elevated circu... OMIM:610978
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Sideroblastic anemia, B lymphocytopenia, Splenomegaly, Schistocytosis OMIM:616084
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Autoimmune hemolytic anemia, Hashimoto thyroiditis, Rectal abscess, Hypoplasi... ORPHA:436252
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Slurred speech, Cataract, Myoclonus, Dysmetria, S... OMIM:256550
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Cerebellar hypoplasia, Broad-based gait, Microcytic anemia OMIM:618805
Molybdenum Cofactor Deficiency, Complementation Group A
Gliosis, Lens luxation, Spastic tetraparesis, Cerebral atrophy, Ectopia lentis, Opisthotonus, Spa... OMIM:252150
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Choreoacanthocytosis
Hypertonia, Head titubation, Cerebral cortical atrophy, Progressive inability to walk, Falls, Hyp... ORPHA:2388
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism, Cerebellar dysplasia OMIM:250951
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Rheumatic Fever
Fasciculations, Chorea, Gait disturbance, Hemiballismus ORPHA:3099
Xeroderma Pigmentosum, Complementation Group A
Ataxia, Conjunctivitis, Keratitis, Choreoathetosis, Spasticity OMIM:278700
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Chorea, Thrombocytopenia, Sp... ORPHA:464343
Cerebrotendinous Xanthomatosis
Pseudobulbar paralysis, Abnormal pyramidal sign, Cerebral atrophy, Ataxia, Cholelithiasis, Catara... OMIM:213700
Alternating Hemiplegia Of Childhood
Tremor, Choreoathetosis, Episodic hemiplegia, Dystonia, Chorea, Paroxysmal dyskinesia, Abnormal p... ORPHA:2131
Usher Syndrome Type 2
Aplasia/Hypoplasia of the cerebellum, Iris hypopigmentation, Ataxia, Subcortical cerebral atrophy... ORPHA:231178
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormality iris morphology, Cerebellar cyst, Abnormal pyramidal sign, Olivopontocerebellar hypop... ORPHA:370959
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Head tremor, Cerebral atrophy, Resting tremor, Ataxia, Cataract, Cerebellar atrophy, Babinski sig... ORPHA:314404
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Positive Romberg sign, Gait ataxia, Impaired vibratory sensation, Cataract, Myoclonus, Abnormal c... ORPHA:70595
Nabais Sa-De Vries Syndrome, Type 2
Chorea, Dystonia, Hemiparesis, Hypothyroidism OMIM:618829
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Congenital Disorder Of Deglycosylation
Pain insensitivity, Chorea, Hyperkinetic movements, Corneal opacity, Action tremor, Myoclonus, Dy... OMIM:615273
African Trypanosomiasis
Impaired proprioception, Spontaneous abortion, Lymphadenopathy, Paresthesia, Akinesia, Hemiparesi... ORPHA:3385
Autosomal Dominant Optic Atrophy And Cataract
Postural tremor, Positive Romberg sign, Anterior cortical cataract, Extrapyramidal muscular rigid... ORPHA:67036
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Positive Romberg sign, Gait ataxia, Gait disturbance, Ataxia, Cataract, Impaired vibration sensat... ORPHA:88628
Pseudohypoparathyroidism Type 1A
Paresthesia, Elevated calcitonin, Oligomenorrhea, Pseudohypoparathyroidism, Hypergonadotropic hyp... ORPHA:79443
Juvenile Sialidosis Type 2
Loss of ability to walk, Corneal opacity, Ataxia, Cataract, Lower limb spasticity, Myoclonus, Dys... ORPHA:93399
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Rett Syndrome, Congenital Variant
Dystonia, Apraxia, Chorea, Tongue thrusting, Stereotypy, Athetosis, Spasticity OMIM:613454
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Glutaric Acidemia I
Dystonia, Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis OMIM:231670
Spondyloenchondrodysplasia
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Chorea, Hypothyroidism, Granuloma, Decr... ORPHA:1855
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Cataract, Babinski sign, Te... OMIM:616586
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Gait disturbance, Hemiplegia/hemiparesis, Cataract ORPHA:588
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cryptorchidism, Abnormality of the endocrine system, Gliosis, Chordee, Hypothyroidism, Hypertonia... ORPHA:268261
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, Chorea, Hyperkinetic movements, Hemiballismus, Ataxia, Stereotypy, Athetoid cerebral pa... ORPHA:522077
Short Stature, Microcephaly, And Endocrine Dysfunction
Dysdiadochokinesis, Cryptorchidism, Apraxia, Hypothyroidism, Lymphopenia, Gait disturbance, Ataxi... OMIM:616541
Pseudo-Torch Syndrome 1
Cerebellar hypoplasia, Thrombocytopenia, Cataract, Opacification of the corneal stroma, Splenomeg... OMIM:251290
Alexander Disease
Tremor, Chorea, Gait disturbance, Abnormal pyramidal sign, Hypothyroidism, Ataxia, Tetraplegia, C... ORPHA:58
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Primary Sjögren Syndrome
Chorea, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Thyroiditis, Corneal pe... ORPHA:289390
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Developmental cataract, Gliosis OMIM:231680
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Panhypopituitarism, Dystonia, Chorea, Iris ... ORPHA:2162
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, Tremor, Cerebral atrophy, Cerebellar atrophy, Choreoathetosis, Spasticity OMIM:614080
Galactokinase Deficiency
Hyperinsulinemia, Speech apraxia, Hypergonadotropic hypogonadism, Nuclear cataract, Cataract, Hep... ORPHA:79237
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cryptorchidism, Iris hypopigmentation, Abnormality of extrapyramidal motor function, Abnormal pyr... ORPHA:2719
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Amenorrhea, Irregular menstruation, Female infertility,... OMIM:110100
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Cataract, Cerebellar atrophy, Ataxia OMIM:610651
Mitochondrial Complex I Deficiency, Nuclear Type 28
Lower limb spasticity, Abnormal pyramidal sign, Choreoathetosis OMIM:618249
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Gait ataxia, Hypertonia, Cerebellar vermis hypoplasia, Ataxia, Cataract, Cerebellar atrophy, Diff... ORPHA:543470
Crome Syndrome
Developmental cataract, Cerebellar dysplasia OMIM:218900
Treacher-Collins Syndrome
Cryptorchidism, Blepharospasm, Iris coloboma, Hypoplasia of the thymus, Cataract, Thyroid hypopla... ORPHA:861
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Tremor, Dystonia, Cerebellar atrophy, Myoclonus, Hyperactivity, Diffuse cerebral... ORPHA:1934
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Gliosis, Upper limb spasticity, Cerebellar hypoplasia, Cerebral cortical atrophy, Lower limb spas... OMIM:300868
Primary Ciliary Dyskinesia
Polysplenia, Female infertility, Abnormal sperm motility, Asplenia, Male infertility ORPHA:244
Woodhouse-Sakati Syndrome
Dystonia, Abnormality of extrapyramidal motor function, Hypergonadotropic hypogonadism, Decreased... OMIM:241080
D-Bifunctional Protein Deficiency
Corpus callosum atrophy, Gliosis, Primary adrenal insufficiency, Cerebellar atrophy, Splenomegaly... OMIM:261515
Monosomy 18Q
Hypothyroidism, Poor coordination, Cerebellar hypoplasia, Bilateral cryptorchidism, Astrocytoma, ... ORPHA:1600
Usher Syndrome
Aplasia/Hypoplasia of the cerebellum, Ataxia, Decreased fertility, Cataract, Cerebral cortical at... ORPHA:886
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Inability to walk, Tremor, Diaphragmatic paralysis, Impaired vibratory sensation, Impaired tactil... ORPHA:466768
Hallermann-Streiff Syndrome
Cryptorchidism, Iris coloboma, Cataract, Hyperactivity, Choreoathetosis OMIM:234100
Woodhouse-Sakati Syndrome
Dystonia, Hyperinsulinemia, Hypothyroidism, Abnormal spermatogenesis, Streak ovary, Insulin-resis... ORPHA:3464
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gliosis ORPHA:26791
Eec Syndrome
Corneal erosion, Hypoplasia of the thymus, Keratitis, Anterior hypopituitarism, Decreased respons... ORPHA:1896
Proteus-Like Syndrome
Heterochromia iridis, Polycystic ovaries, Abnormality of the parathyroid gland, Cataract, Splenom... ORPHA:2969
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thyroiditis, Lymphopenia, Neutropenia i... ORPHA:391487
Brucellosis
Lung abscess, Thrombocytosis, Leukocytosis, Chorea, Orchitis, Granuloma, Thrombocytopenia, Spleno... ORPHA:1304
22Q11.2 Deletion Syndrome
Cryptorchidism, Hypothyroidism, Posterior embryotoxon, Cholelithiasis, Thrombocytopenia, Hypoplas... ORPHA:567
Cutis Laxa, Autosomal Recessive, Type Iid
Cataract, Bilateral cryptorchidism, Gliosis OMIM:617403
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Positive Romberg sign, Progressive gait ataxia, Cataract, Myoclonus, Impaired distal vibration se... OMIM:607459