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Gene: Ache MGI:87876

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Gene Summary

Name:
acetylcholinesterase
Synonyms:
N/A

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lymphocyte cell number Acheem1(IMPC)Mbp HET Early adult 1.41×10-05
increased neutrophil cell number Acheem1(IMPC)Mbp HET Early adult 3.18×10-08
preweaning lethality, incomplete penetrance Acheem1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Acheem1(IMPC)Mbp HOM E18.5 0.00
no spontaneous movement Acheem1(IMPC)Mbp HET E18.5 0.00
abnormal heart morphology Acheem1(IMPC)Mbp HET Early adult 0.00
small heart Acheem1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Acheem1(IMPC)Mbp HOM E18.5 0.00

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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 Whole Body Dorso Ventral

60 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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MicroCT E18.5

Embryo reconstruction

9 Images

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Gross Morphology Embryo E18.5

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1 Images

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Human diseases caused by Ache 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 Ache by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Peroneus Tertius Muscle, Absence Of
Foot dorsiflexor weakness OMIM:261400
Amyotrophic Lateral Sclerosis 3
Lower limb muscle weakness OMIM:606640
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Mitochondrial Myopathy With A Defect In Mitochondrial-Protein Transport
Muscle weakness OMIM:251945
Episodic Ataxia With Slurred Speech
Tremor, Muscle weakness, Slurred speech, Gait ataxia ORPHA:401953
Episodic Ataxia, Type 7
Muscle weakness, Episodic ataxia OMIM:611907
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle weakness, Proximal muscle weakness OMIM:616231
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Episodic Ataxia, Type 8
Ataxia, Muscle weakness, Intention tremor, Slurred speech, Episodic ataxia OMIM:616055
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:619491
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal muscle weakness, Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Muscle weakness, Spastic paraplegia, Babinski sign OMIM:612539
Athrombia, Essential
Impaired platelet adhesion, Impaired platelet aggregation, Prolonged bleeding time OMIM:209050
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... OMIM:619130
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal muscle weakness, Fasciculations, Proximal muscle weakness, Tremor OMIM:182980
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Episodic Ataxia, Type 1
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia OMIM:160120
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... OMIM:314250
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Ataxia, Tremor, Muscle weakness, Babinski sign OMIM:611105
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ristocetin-induced platelet aggregation, Impai... OMIM:619267
Dystonia 31
Parkinsonism, Leg dystonia, Difficulty walking, Generalized dystonia, Writer's cramp, Abnormal po... OMIM:619565
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Progressive spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity ORPHA:401840
Spinocerebellar Ataxia Type 38
Distal muscle weakness, Gait ataxia, Tremor ORPHA:423296
Pulmonary Blastoma
Dyspnea, Fever, Cough, Recurrent pneumonia, Weight loss ORPHA:64741
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Myoclonus, Involuntary movements OMIM:611092
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus OMIM:614937
Sandhoff Disease, Adult Form
Spasticity, Proximal muscle weakness in lower limbs, Focal dystonia, Tremor, Upper limb muscle we... ORPHA:309169
Primary Dystonia, Dyt13 Type
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... ORPHA:98807
Bleeding Disorder, Platelet-Type, 24
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... OMIM:619271
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Tremor OMIM:614369
Parkinsonism With Spasticity, X-Linked
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign OMIM:300911
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Distal muscle weakness, Gait ataxia, Tremor, Myoclonus OMIM:615957
Immunodeficiency 110 With Lymphoproliferation
Atrial septal defect, Lymphopenia, Neutropenia OMIM:614868
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... OMIM:607688
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... OMIM:173590
Parkinsonism-Dystonia 2, Infantile-Onset
Parkinsonism, Ataxia, Oculogyric crisis, Abnormal autonomic nervous system physiology, Dysdiadoch... OMIM:618049
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Facial Onset Sensory And Motor Neuronopathy
Muscle weakness, Fasciculations ORPHA:85162
Tuberculosis
Cough, Fever, Weight loss ORPHA:3389
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... OMIM:614561
Monomelic Amyotrophy
Tremor, Muscle weakness, Fasciculations ORPHA:65684
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness OMIM:254100
Paroxysmal Non-Kinesigenic Dyskinesia
Hyperkinetic movements, Torticollis, Rigidity, Chorea, Involuntary movements, Generalized muscle ... ORPHA:98810
Glanzmann Thrombasthenia 1
Impaired ristocetin-induced platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impai... OMIM:273800
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia OMIM:618425
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Generalized muscle weakness, Hand tremor OMIM:609153
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Lower limb muscle weakn... OMIM:607317
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Spinocerebellar Ataxia 18
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria, Limb muscle weakness OMIM:607458
Spinal Muscular Atrophy, Jokela Type
Tremor, Muscle weakness, Fasciculations OMIM:615048
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... OMIM:260300
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Inguinal hernia, Limb hypertonia, Clonus, Abnormal autonomic nervous system phy... OMIM:614498
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Spinocerebellar Ataxia 40
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... OMIM:616053
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Spinocerebellar Ataxia 43
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
External ophthalmoplegia, Fatigable weakness, Proximal muscle weakness OMIM:254190
Spinocerebellar Ataxia Type 31
Spasticity, Hearing impairment, Tremor, Gait ataxia, Impaired vibratory sensation ORPHA:217012
Chronic Pneumonitis Of Infancy
Intercostal retractions, Fever, Hyperventilation, Cough, Hypoxemia, Failure to thrive, Respirator... ORPHA:91359
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... ORPHA:314632
Developmental And Epileptic Encephalopathy 78
Spasticity, Cerebral palsy, Hypothermia, Chorea OMIM:618557
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus OMIM:616921
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Proximal muscle weakness, External ophthalmoplegia, Distal muscle weakness, Tremor OMIM:618637
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Apneic episodes in infancy OMIM:610006
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Muscle weakness, Limb muscle weakness OMIM:619141
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Multiple System Atrophy
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Autonomic erectile dysfunction, Progressiv... ORPHA:102
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Dystonia 13, Torsion, Autosomal Dominant
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... OMIM:607671
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
N-Acetylaspartate Deficiency
Unsteady gait, Broad-based gait, Abnormal repetitive mannerisms, Decreased body weight, Truncal a... OMIM:614063
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal autonomic nervous system physiology, Hypothermia, Myoclonus, Growth delay ORPHA:168593
Spinocerebellar Ataxia Type 35
Torticollis, Limb ataxia, Progressive cerebellar ataxia, Neck muscle weakness, Pseudobulbar paral... ORPHA:276193
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Spinal Muscular Atrophy, Type Ii
Muscle weakness, Tongue fasciculations, Hand tremor OMIM:253550
Dystonia 24
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia OMIM:615034
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Spontaneous Periodic Hypothermia
Hypothermia, Abnormal pattern of respiration ORPHA:29822
Spinocerebellar Ataxia Type 28
Spasticity, Parkinsonism, Limb ataxia, Limb dystonia, Kinetic tremor, Ophthalmoparesis, Rigidity,... ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Ankle clonus, External ophthalmoplegia, Tremor, Babinski sign, Truncal a... OMIM:615768
Autosomal Dominant Spastic Ataxia Type 1
Dystonia, Limb ataxia, Difficulty walking, Lower limb spasticity, Spastic dysarthria, Impaired pr... ORPHA:251282
Macrophagic Myofasciitis
Myalgia, Generalized muscle weakness, Fatigue, Arthralgia ORPHA:592
Barth Syndrome
Abnormality of neutrophils, Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Dystonia 23
Limb dystonia, Torticollis, Axial dystonia, Writer's cramp, Head tremor, Myoclonus OMIM:614860
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Primary Dystonia, Dyt2 Type
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... ORPHA:99657
Migraine, Familial Hemiplegic, 1
Fever, Ataxia, Hemiparesis, Hemiplegia, Tremor OMIM:141500
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bronchospasm, Cardiorespiratory arrest, Apnea, Hypothermia, Abnormal pattern of respiration, Stridor OMIM:608800
Spinocerebellar Ataxia 35
Torticollis, Ataxia, Neck muscle weakness, Pseudobulbar paralysis, Intention tremor, Babinski sig... OMIM:613908
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Abnormal autonomic nervous system physiology, Rigidity, Tremor, Bradykinesia, Optic... ORPHA:329284
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Lower limb muscle weakness, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lowe... OMIM:600363
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Neck muscle weakness, Chorea, Myoclonus, Resting tremor, Involuntary movements, ... OMIM:606703
Multiple System Atrophy, Parkinsonian Type
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Autonomic erectile dysfunction, Progressiv... ORPHA:98933
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... OMIM:128230
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Parkinson Disease 17
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor OMIM:614203
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Dysdiadochokinesis, Abnormal auditory evoked potentials, Abnormality ... ORPHA:99027
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Poor head control, Dystonia, Tremor OMIM:619651
Bleeding Disorder, Platelet-Type, 18
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Pro... OMIM:615888
Coenzyme Q10 Deficiency, Primary, 5
Respiratory insufficiency, Hypothermia OMIM:614654
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Gait disturbance, Falls, Cogwheel rigidity, Dysdiadochokinesis, Trem... ORPHA:363710
Combined Oxidative Phosphorylation Deficiency 45
Low-set ears, Epicanthus, Ataxia, Failure to thrive, Tremor OMIM:618951
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Hemiballismus, Tremor, Chorea ORPHA:494526
Glanzmann Thrombasthenia
Impaired thrombin-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... ORPHA:849
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Failure to thrive, Hypothermia, Respira... OMIM:245400
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spasticity, Clonus, Progressive spastic paraplegia, Abnormal autonomic nervous system physiology,... ORPHA:139578
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Ataxia, Falls, Bruxism, Chorea, Abnormal repetitive mannerisms, Dystonia, Paro... OMIM:619150
Developmental And Epileptic Encephalopathy 97
Tremor, Poor head control OMIM:619561
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:614201
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Limb muscle weakness, Distal muscle weakness, Tremor, Gait ataxia, Foot dorsiflexor weakn... OMIM:618387
Dystonia 16
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Torticollis, Postural tremor, Bradykinesia ORPHA:210571
Huntington Disease-Like 1
Frequent falls, Simultanapraxia, Gait disturbance, Clumsiness, Chorea, Bradykinesia, Gait ataxia,... ORPHA:157941
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Multiple System Atrophy, Cerebellar Type
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Limb ataxia, Autonomic erectile dysfunctio... ORPHA:227510
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... ORPHA:420485
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Gait ataxia, Abnormal repetitive mannerisms, Recurrent hand flapping, Broad-based gait OMIM:617862
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Shoulder girdle muscle weakness, Proximal muscle weakness, Neck muscle weakness OMIM:619477
Immunodeficiency 24
Decreased proportion of memory B cells, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Gait disturbanc... ORPHA:216873
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Tremor, Proximal musc... ORPHA:276435
Intellectual Developmental Disorder, Autosomal Recessive 48
Narrow palpebral fissure, Inability to walk, Tremor, Waddling gait, Macrotia OMIM:616269
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia, Tachypnea OMIM:616501
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Inability to walk, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Orom... OMIM:128100
Chromosome 15Q11-Q13 Duplication Syndrome
Abnormal repetitive mannerisms, Unsteady gait, Truncal ataxia OMIM:608636
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Baker-Gordon Syndrome
Athetoid cerebral palsy, Hyperkinetic movements, Epicanthus, Inability to walk, Ataxia, Abnormal ... OMIM:618218
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Nonprogressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Intention tremo... ORPHA:314978
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Low-set ears, Posteriorly rotated ears, Failure to thrive, Gait ataxia... OMIM:609425
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Spinocerebellar Ataxia 23
Limb ataxia, Impaired vibration sensation in the lower limbs, Tremor, Gait ataxia, Impaired dista... OMIM:610245
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... OMIM:606324
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Parkinsonism, Rigidity, Ophthalmoparesis, Tremor OMIM:260540
Permanent Congenital Hypothyroidism
Short stature, Umbilical hernia, Tetraplegia, Hypothermia ORPHA:226292
Primary Erythromelalgia
Hypothermia ORPHA:90026
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Inability to walk, Gait disturbance, Generalized dystonia, Tip-toe ga... ORPHA:216866
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Abnormal autonomic nervous system physiology DECIPHER:59
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Inability to walk OMIM:606053
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, Platelet... OMIM:187800
Spinocerebellar Ataxia, Autosomal Recessive 8
Spasticity, Limb ataxia, Abnormal autonomic nervous system physiology, Abnormality of extrapyrami... OMIM:610743
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Ataxia, Upslanted palpebral fissure, Tremor, Gait ataxia, Large fleshy ears, Myoclo... OMIM:619092
Central Hypoventilation Syndrome, Congenital, 3
Heat intolerance, Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Mohr-Tranebjaerg Syndrome
Spasticity, Tremor, Progressive sensorineural hearing impairment, Abnormal posturing, Postlingual... OMIM:304700
Dystonia 7, Torsion
Torticollis, Hand tremor, Blepharospasm, Clumsiness, Writer's cramp, Oromandibular dystonia, Tors... OMIM:602124
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... ORPHA:98762
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Spasticity, Inability to walk, Abnormal repetitive mannerisms, Involuntary movements, Dystonia OMIM:617820
Corticobasal Syndrome
Limb myoclonus, Limb dystonia, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... ORPHA:454887
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus, Writer's cramp OMIM:159900
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Ataxia, Abnormal platelet function ORPHA:2585
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Gowers sign, Respiratory insufficiency due to muscle weakness, Proximal muscle we... OMIM:159950
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Torsion dystonia, Blepharospasm OMIM:224500
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Recurrent fever, Myoclonus, Hypertonia, Choreoathetosis, Dystonia OMIM:261630
Tetanus
Fever, Spasticity of pharyngeal muscles, Autonomic bladder dysfunction, Abnormal autonomic nervou... ORPHA:3299
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Ataxia, Optic disc pallor, Abnormal autonomic nervous system p... ORPHA:97229
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Myoclonus, Dystonia OMIM:615924
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Bulbar palsy, Fasciculations, Limb muscle weakness OMIM:313200
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Spinocerebellar Ataxia 7
Spasticity, Supranuclear ophthalmoplegia, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Riboflavin Deficiency
Hypothermia OMIM:615026
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Gait disturbance, Retrocollis, Tip-toe gait, Tremor, Oromandibular dysto... OMIM:617284
Fatal Familial Insomnia
Fever, Ataxia, Abnormal autonomic nervous system physiology, Myoclonus, Weight loss OMIM:600072
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Distal muscle weakness, Tremor, Foot dorsiflexor weakness, Babinski sign, Hypertonia,... OMIM:609260
Spinocerebellar Ataxia 12
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Act... OMIM:604326
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hypoventilation, Sleep apnea, Recurrent pneumonia, Hypothermia, Abnormality of temperature... OMIM:618493
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Hypothermia ORPHA:226313
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Tremor, Bradykinesia, Oromandibular dystoni... ORPHA:521406
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Weight loss OMIM:605543
Sporadic Infantile Bilateral Striatal Necrosis
Parkinsonism, Gait disturbance, Hemiplegia, Titubation, Chorea, Bradykinesia, Gait ataxia, Abnorm... ORPHA:225147
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Amyotrophic Lateral Sclerosis 18
Spasticity, Muscle weakness, Fasciculations OMIM:614808
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Bradykinesia, Resting tremor, Dystonia OMIM:605909
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Inability to walk, Spastic diplegia OMIM:617830
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Hypothermia, Hyperventilation OMIM:618775
Amyotrophy, Monomelic
Upper limb muscle weakness, Cold paresis, Fasciculations OMIM:602440
Foxg1 Syndrome
Spasticity, Hyperkinetic movements, Stereotypical hand wringing, Inability to walk, Difficulty wa... ORPHA:561854
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Neurodegeneration With Brain Iron Accumulation 8
Unsteady gait, Ataxia, Loss of ambulation, Tremor, Dysmetria OMIM:617917
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Proximal muscle weakness, Tremor, Myoclon... ORPHA:139485
Obesity-Hypoventilation Syndrome
Hypoventilation, Obesity OMIM:257500
Caribbean Parkinsonism
Parkinsonism, Weakness due to upper motor neuron dysfunction, Apraxia, Progressive gait ataxia, A... ORPHA:97355
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Low-set ears, Difficulty walking, Failure to thrive, Tremor, Spastic paraplegia, Babinski sign, B... ORPHA:477673
Pontocerebellar Hypoplasia, Type 11
Spasticity, Limb ataxia, Inability to walk, Poor coordination, Ataxia, Difficulty walking, Macrot... OMIM:617695
Mitchell Syndrome
Clumsiness, Abnormal autonomic nervous system physiology OMIM:618960
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... OMIM:613135
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Abnormal ... ORPHA:282166
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb dystonia, Torticollis, Limb hypertonia, Blepharospasm, Limb tremor, Oculogyric crisis, Athet... OMIM:608643
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Abnormal repetitive mannerisms, Broad-based gait, Tremor OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness OMIM:159050
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia OMIM:618709
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Small for gestational age, Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Gr... ORPHA:70594
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Falls, Short stepped shuffling gait, Rigidity, Bradykinesia, Resting tremor, Shuffl... ORPHA:306692
Progressive Nodular Histiocytosis
Cachexia, Fever ORPHA:158022
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Intellectual Developmental Disorder, Autosomal Recessive 58
Abnormal repetitive mannerisms, Spastic diplegia, Choreoathetosis OMIM:617270
Spinocerebellar Ataxia Type 3
Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Abnormality of extrapyramidal... ORPHA:98757
Menkes Disease
Intrauterine growth retardation, Short stature, Hypothermia, Babinski sign, Hypertonia OMIM:309400
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Dysdiadochokinesis, Bradykinesia, Tremor... OMIM:213600
Tremor-Ataxia-Central Hypomyelination Syndrome
Spasticity, Delayed puberty, Ataxia, Clumsiness, Spastic dysarthria, Postural tremor, Autonomic b... ORPHA:447896
X-Linked Charcot-Marie-Tooth Disease Type 4
Distal muscle weakness, Ataxia, Tremor ORPHA:101078
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex OMIM:601068
Lopes-Maciel-Rodan Syndrome
Spasticity, Abnormal pyramidal sign, Unsteady gait, Ankle clonus, Bruxism, Tremor, Bradykinesia, ... OMIM:617435
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... ORPHA:240103
Charcot-Marie-Tooth Disease And Deafness
Ankle weakness, Distal muscle weakness, Tremor, Foot dorsiflexor weakness, Limb muscle weakness OMIM:118300
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus ORPHA:98763
Autosomal Recessive Dopa-Responsive Dystonia
Limb dystonia, Parkinsonism, Fever, Ataxia, Postural tremor, Oculogyric crisis, Generalized dysto... ORPHA:101150
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Progressive cerebellar ataxia, Vestibular areflexia, Dysdiadochokinesis, Distal muscle weakness, ... ORPHA:504476
Urocanase Deficiency
Ataxia, Gait ataxia, Action tremor, Truncal ataxia, Dysmetria OMIM:276880
Myositis
Proximal muscle weakness OMIM:160750
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Speech apraxia, Downslanted palpebral fissures, Abnormal repetitive... OMIM:613670
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... OMIM:155100
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Parkinsonism, Gait disturbance, Falls, Impaired tandem gait, Apraxia, Rigidity, Brady... OMIM:300423
Amish Nemaline Myopathy
Tremor, Respiratory insufficiency due to muscle weakness, Progressive muscle weakness ORPHA:98902
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Muscle weakness, Postural tremor, Ataxia OMIM:300619
Autism Spectrum Disorder Due To Auts2 Deficiency
Spasticity, Small for gestational age, Epicanthus, Low-set ears, Bilateral ptosis, Upslanted palp... ORPHA:352490
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Hypothermia ORPHA:95717
Dystonia 12
Parkinsonism, Torticollis, Tremor, Bradykinesia, Dystonia OMIM:128235
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Gait disturbance, Ataxia, Hearing impairment, Tremor ORPHA:101075
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Fever OMIM:619175
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Unsteady gait, Clonus, Titubati... ORPHA:397946
Spinocerebellar Ataxia 50
Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Hearing impairment, Myoclonus, Action trem... OMIM:620158
Infantile Neuroaxonal Dystrophy
Spasticity, Abnormal pyramidal sign, Progressive spasticity, Ataxia, Abnormal autonomic nervous s... ORPHA:35069
Machado-Joseph Disease
Spasticity, Parkinsonism, Limb ataxia, Progressive cerebellar ataxia, Ataxia, Facial-lingual fasc... OMIM:109150
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Abnormal repetit... OMIM:618917
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Spasticity, Low-set ears, Inability to walk, Bruxism, Tremor, Abnormal repetitive mannerisms OMIM:618718
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... ORPHA:369873
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Parkinson Disease 21
Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:616361
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Abnormal autonomic nervous system physiology, Rigidity, Tremor, Bradykinesia, Dysto... OMIM:300894
Developmental And Epileptic Encephalopathy 64
Long eyelashes, Epicanthus, Hemiparesis, Inability to walk, Limb hypertonia, Bruxism, Paroxysmal ... OMIM:618004
Severe Intellectual Disability And Progressive Spastic Paraplegia
Spasticity, Overweight, Difficulty walking, Progressive spastic paraplegia, Spastic dysarthria, W... ORPHA:280763
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Giant somatosensory evoked potentials, Myoclonus, Enhancement of the C-reflex OMIM:613608
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Gait disturbance, Ataxia, Dysdiadochoki... OMIM:617145
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Small for gestational age, Ataxia, Limb hypertonia, Rigidity, Tremor, Recurrent fev... OMIM:261640
Roussy-Levy Hereditary Areflexic Dystasia
Distal muscle weakness, Gait ataxia, Upper limb postural tremor, Action tremor OMIM:180800
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Tremor, Upper limb muscle weakness, Fasciculations, Cold pa... ORPHA:99965
Spinocerebellar Ataxia 48
Parkinsonism, Ataxia, Cachexia, Chorea, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria OMIM:618093
Meningococcal Meningitis
Neonatal respiratory distress, Hypothermia, Fever ORPHA:33475
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Progressive distal muscle weakness, Tremor, Foot dorsifl... ORPHA:101077
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Increased mean platelet volume, Impaired ADP-ind... OMIM:617443
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Muscle weakness, Gait ataxia, Ophthalmoplegia, Po... ORPHA:1170
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Oculomotor apraxia, Unsteady gait, Falls, Blepharospasm, Short stepped shuffling gait, Spastic dy... ORPHA:240094
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Chorea, Resting tremor, Myoclonus, Dystonia ORPHA:324588
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Nonprogressive cerebellar ataxia, Clonus, Dysdiadochokinesis, Intention tremor, Babinski sign, Dy... OMIM:301310
Diamond-Blackfan Anemia 4
Atrial septal defect, Reticulocytopenia, Macrocytic anemia, Erythroid hypoplasia, Neutropenia OMIM:612527
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Ataxia, Tremor OMIM:278780
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Difficulty walking, Lateral ventricle dilatation, Tremor, Bradykinesia... ORPHA:306669
Leukodystrophy, Hypomyelinating, 12
Spasticity, Abnormal autonomic nervous system physiology, Flexion contracture, Optic atrophy, Tem... OMIM:616683
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity, Short stature, Tremor, Hypertonia ORPHA:1368
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Involuntary movements OMIM:617171
Spinocerebellar Ataxia, Autosomal Recessive 30
Unsteady gait, Ataxia, Titubation, Tremor, Compulsive behaviors, Dysmetria OMIM:619405
Dystonia 16
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Retrocollis, Postural tremor, Generalized d... OMIM:612067
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Overweight, Respiratory distress, Episodic tachypnea, Hypothermia, Pne... ORPHA:26793
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms OMIM:617787
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign OMIM:615362
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Respiratory insufficiency, Failure to thrive, Central hypoventilation, Apnea OMIM:300673
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Parkinsonism, Abnormal vestibulo-ocular reflex, Abnormal cranial nerve morphology, At... ORPHA:247234
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Inability to walk, Short stepped shuffling gait, Slowed slurred speech, ... ORPHA:391411
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Abnormal autonomic nervous syst... OMIM:616840
Atypical Rett Syndrome
Spasticity, Impaired pain sensation, Limb myoclonus, Inability to walk, Gait disturbance, Apraxia... ORPHA:3095
Alexander Disease Type Ii
Spasticity, Ataxia, Abnormal autonomic nervous system physiology, Rigidity, Palatal tremor, Babin... ORPHA:363722
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Frequent falls, Limb ataxia, Distal muscle weakness, Tremor, Gait ataxia OMIM:616719
Undifferentiated Pleomorphic Sarcoma
Fever, Weight loss ORPHA:2023
Asperger syndrome susceptibility, X-linked 2
Abnormal repetitive mannerisms OMIM:300497
Asperger Syndrome, Susceptibility To, 1
Abnormal repetitive mannerisms OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Abnormal repetitive mannerisms OMIM:608631
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Cogwheel rigidity, Scissor gait, Bradykinesia, Resting tremor, Babinski... ORPHA:363654
Timothy Syndrome
Pulmonary arterial hypertension, Hypothermia, Pneumonia OMIM:601005
Intellectual Developmental Disorder, Autosomal Dominant 7
Small for gestational age, Gait disturbance, Ataxia, Abnormal pinna morphology, Failure to thrive... OMIM:614104
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Hypothermia, Respiratory failure, Failure to thrive OMIM:618329
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic tetraplegia, Parkinsonism, Ataxia, Bruxism, Apraxia, Shuffling gait, Tremor, Bradykinesia... OMIM:300055
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Bilateral ptosis, Difficulty walking, Oculogyric crisis, Tremor, Dystonia ORPHA:330050
Autism, Susceptibility To, X-Linked 3
Abnormal repetitive mannerisms OMIM:300496
Autism, Susceptibility To, X-Linked 1
Abnormal repetitive mannerisms OMIM:300425
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Limb fasciculations, Lower limb muscle weakness, Tr... ORPHA:90117
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Muscle weakness, Ataxia, Tremor ORPHA:99014
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Long eyelashes, Inability to walk, Synophrys, Prominent ear helix, Thick eyebrow, Myoclonus, Larg... ORPHA:411986
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Frequent falls, Limb myoclonus, Eyelid myoclonus, High-frequency sensorineural hearing impairment... ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Inability to walk, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Ptos... OMIM:614831
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614251
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive spasticity, Progressive cerebellar ataxia, Unsteady gait, Difficulty walking, Clumsin... ORPHA:137898
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Abnormal autonomic nervous system physiology OMIM:156310
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Epicanthus, Protruding ear, Bruxism, Downslanted palpebral fissures, Tremor, Highly... OMIM:618342
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Ataxia, Cogwheel rigidity, Motor tics, Chorea, Bradykinesia, Intention tremor, Myoc... OMIM:619725
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Progressive extrapyramidal movement disorder, Proximal muscle weakness, Chorea, Resting t... ORPHA:401768
X-Linked Dystonia-Parkinsonism
Frequent falls, Limb dystonia, Hand tremor, Blepharospasm, Parkinsonism with favorable response t... ORPHA:53351
Digital Extensor Muscle Aplasia-Polyneuropathy
Heat intolerance, Camptodactyly of finger, Abnormality of temperature regulation, Abnormal nerve ... ORPHA:2926
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Sensorineura... OMIM:610185
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Abnormal repetitive mannerisms, Difficulty walking, Failure to thrive OMIM:617393
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Writer's cramp, Bradykinesia, ... OMIM:606159
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic spasms, Poor head control, Ataxia, Clumsiness, Chorea, Tremor, Myoclonus, P... ORPHA:79263
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Fructose-1,6-Bisphosphatase Deficiency
Fever, Dyspnea, Apnea, Hyperventilation OMIM:229700
Spinocerebellar Ataxia 15
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Decreased amplitude of sensory a... OMIM:619279
Alexander Disease
Spasticity, Abnormal pyramidal sign, Ataxia, Clonus, Abnormal autonomic nervous system physiology... ORPHA:58
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Blepharospasm, Speech apraxia, Focal d... ORPHA:99750
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Impaired tandem gait, Tremor, Myoclonus, Lower limb spasticity, Dysmetria OMIM:619028
Parkinsonian-Pyramidal Syndrome
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormal autonomic nervous system physiology, ... ORPHA:171695
Autism
Abnormal repetitive mannerisms OMIM:209850
Autism, Susceptibility To, 8
Abnormal repetitive mannerisms OMIM:607373
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:617836
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Rigidity, Tremor, Gait ataxia, Dysmetria OMIM:618090
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Ataxia, Loss of ambulation, Tremor, Myoclonus OMIM:614018
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Choreoathetosis, Dystonia OMIM:612716
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Proximal muscle weakness, Tremor, Myoclonus OMIM:612016
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Low-set ears, Long eyelashes, Epicanthus, Protruding ear, Synophrys, Downslanted palpebral fissur... ORPHA:480907
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal muscle weakness, Tremor OMIM:607734
Autosomal Dominant Cerebellar Ataxia
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... ORPHA:99
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Immotile sperm, Infertility, Bronchiectasis, Recurrent sinu... OMIM:618449
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Gait ataxia, Abnormal autonomic nervous system physiology, Arthrogryposis multiplex congenita, Ag... OMIM:243180
Parkinson Disease, Late-Onset
Parkinsonism, Abnormal autonomic nervous system physiology, Rigidity, Tremor, Bradykinesia, Resti... OMIM:168600
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Malignant hyperthermia, Torticollis OMIM:217150
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Abnormal pinna morphology, Ataxia, Tremor OMIM:300983
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Gait apraxia,... OMIM:615157
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Weight loss ORPHA:85447
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Abnormality of pain sensation, Gait disturbance, Poor coordination, A... ORPHA:544254
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Unsteady gait, Ataxia, Tremor, Gait ataxia, Incoordination, Dysmetria OMIM:213200
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Spasticity, Frequent falls, Progressive cerebellar ataxia, Fever, Gait ataxia, Intention tremor, ... ORPHA:466794
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Sudden episodic apnea, Hypothermia ORPHA:159
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Muscle weakness OMIM:254950
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Ataxia OMIM:239500
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms OMIM:300271
Posttransplant Acute Limbic Encephalitis
Myoclonus, Ataxia, Abnormal autonomic nervous system physiology, Dystonia ORPHA:163921
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Hypothermia, Fever ORPHA:292
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Inability to walk, Ataxia, Chorea, Myoclonus, Abnormal repetitive manneri... OMIM:619317
Multicentric Reticulohistiocytosis
Cachexia, Fever ORPHA:139436
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Xq28 (MECP2) duplication
Progressive spasticity, Inability to walk, Failure to thrive, Gait ataxia, Macrotia, Abnormal rep... DECIPHER:45
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhinitis, Decreased nasal n... OMIM:615481
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Crigler-Najjar Syndrome Type 1
Tremor, Oculomotor nerve palsy ORPHA:79234
Christianson Syndrome
Dystonia, Cachexia, Thick eyebrow, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Truncal... ORPHA:85278
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Fever, Hyperventilation, Apnea, Failure to thrive, Hypothermia, Episodic respiratory dis... ORPHA:255210
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Brain Dopamine-Serotonin Vesicular Transport Disease
Limb dystonia, Parkinsonism, Gait disturbance, Ataxia, Oculogyric crisis, Shuffling gait, Dysdiad... ORPHA:352649
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Abnormal posturing, Failure to thrive, Tachypnea OMIM:614857
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Rigidity, Tremor, Recurrent fever, Choreoathetosis, Dyst... OMIM:233910
Urocanic Aciduria
Gait ataxia, Action tremor, Truncal ataxia, Ataxia ORPHA:210128
Neurodegeneration With Brain Iron Accumulation 7
Dystonia, Ataxia, Loss of ambulation, Tremor, Lower limb spasticity, Dysmetria OMIM:617916
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Amyloidosis, Hereditary, Transthyretin-Related
Spasticity, Abnormal pyramidal sign, Limb ataxia, Hemiparesis, Ataxia, Abnormal autonomic nervous... OMIM:105210
Leukodystrophy, Hypomyelinating, 11
Spasticity, Ataxia, Failure to thrive, Tremor, Myoclonus OMIM:616494
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, Dysdiadochokinesis, Tremor, Muscle weakn... ORPHA:96
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Rigidity, Myoclonus, Abnormal repetitive mannerisms, Babinski sign, Dystonia OMIM:600795
Hsd10 Disease
Gait disturbance, Ataxia, Rigidity, Hearing impairment, Tremor, Myoclonus, Choreoathetosis, Spast... ORPHA:391417
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, Epicanthus, Progressive spasticity, Inability to walk, Ataxia, Lower limb spasticit... OMIM:300260
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Frequent falls, Distal sensory impairment, Gait disturbance, Hand tremor, Difficulty walking, Par... OMIM:302800
Perry Syndrome
Weight loss, Central hypoventilation ORPHA:178509
Radio-Tartaglia Syndrome
Narrow palpebral fissure, Low-set ears, Epicanthus, Long eyelashes, Conductive hearing impairment... OMIM:619312
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Hypothermia ORPHA:95716
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Paraparesis, Progressive extrapyramidal movement disorder, Rigidity, Tremor, Myoclonus, H... OMIM:612736
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal alpha granule content, Impaired platelet aggregation, Thrombocytopenia, Abnormal dense g... OMIM:601399
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Abnormal autonomic nervous system physiology, Fever, Myoclonus ORPHA:83601
Oculopharyngodistal Myopathy 4
Distal muscle weakness, Postural tremor, External ophthalmoplegia, Tremor OMIM:619790
Spinocerebellar Ataxia 29
Limb ataxia, Nonprogressive cerebellar ataxia, Impaired tandem gait, Truncal titubation, Dysdiado... OMIM:117360
Dopa-Responsive Dystonia
Parkinsonism, Inability to walk, Leg dystonia, Poor coordination, Gait disturbance, Difficulty wa... ORPHA:255
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased ... OMIM:617514
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Autonomic erectile dysfunction, Ataxia, Pseudobulbar paralysis, Autonomic bladder dys... OMIM:169500
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Bruxism, Bilateral sensorineural hearing impairment, Tremor, Ptosis, Choreoathetosis, Dys... OMIM:619422
Melkersson-Rosenthal Syndrome
Facial palsy, Abnormal autonomic nervous system physiology, Fever ORPHA:2483
Sneddon Syndrome
Tremor, Muscle weakness, Hemiparesis, Chorea ORPHA:820
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Unsteady gait, Ataxia, Limb hypertonia, Difficulty walking, Downslanted palpebral fis... ORPHA:442835
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Spinocerebellar Ataxia Type 27
Limb ataxia, Gait disturbance, Hand tremor, Difficulty walking, Tremor, Gait ataxia, Akinesia, Tr... ORPHA:98764
Parkinsonism-Dystonia 3, Childhood-Onset
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Tremor, Action tremor, Hypertonia, Dystonia OMIM:619738
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Abnormal repetitive mannerisms, Spastic tetraplegia, Hypertonia OMIM:615282
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Parkinsonism, Inability to walk, Head titubation, Rigidity, Tremor, Bradykinesia, Gai... OMIM:618877
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Abnormal pyramidal sign, Ataxia, Difficulty walking, Dystonic gait, Titubation, Abnor... ORPHA:280219
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Overweight, Gait disturbance, Tremor, Upper limb spasticity, Macrotia, Ab... ORPHA:457240
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Spasticity, Oromotor apraxia, Abnormal autonomic nervous system physiology, Optic atrophy, Growth... ORPHA:466934
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Limb ataxia, Ataxia, Vestibular areflexia, Abnormal autonomic nervous system physiology, Gait ata... OMIM:614575
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Ataxia OMIM:603585
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Fever, Cogwheel rigidity, Paraparesis, Tru... OMIM:607483
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:615285
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Upslanted palpebral fissure, Hearing impairment, Macrotia, Abnormal repetitive... OMIM:619877
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Oculomotor apraxia, Unsteady gait, Ataxia, Clumsiness, Postural tremor, Truncal titu... OMIM:609270
Hemochromatosis, Type 3
Cardiomyopathy, Neutropenia, Lymphopenia, Anemia OMIM:604250
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Impaired vibration sensation at ankles, Unsteady gait, Ataxia, Spastic a... OMIM:616795
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced plate... OMIM:139090
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Inability to walk, Upslanted palpebral fissure, Lateral ventricle dilatation, Abnor... OMIM:613443
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Blepharospasm, Ophthalmoparesis, Dysdiadochok... ORPHA:101
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Spasticity, Prominent antihelix, Difficulty walking, Broad-based gait, Upslanted palpebral fissur... OMIM:617807
4Q21 Microdeletion Syndrome
Low-set ears, Long eyelashes, Synophrys, Hearing impairment, Tremor, Abnormal repetitive manneris... ORPHA:238750
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Ptosis, Tremor, Myoclonus, Episodic ataxia, Agenesis of corpus callosu... OMIM:312170
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Triceps weakness, Polyminimyoclonus, First dorsal interossei muscle weakness, Vocal cord paresis,... OMIM:619574
Ciliary Dyskinesia, Primary, 29
Infertility, Bronchiectasis, Ciliary dyskinesia, Decreased nasal nitric oxide OMIM:615872
Mitochondrial Complex I Deficiency, Nuclear Type 9
Breathing dysregulation, Hypoventilation OMIM:618232
Smith-Magenis syndrome
Abnormal repetitive mannerisms DECIPHER:8
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, Ataxia OMIM:617831
Intellectual Developmental Disorder, Autosomal Dominant 34
Epicanthus, Bilateral ptosis, Synophrys, Bruxism, Upslanted palpebral fissure, Hearing impairment... OMIM:616351
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Torticollis, Distal sensory impairment, Gait disturbance, Ataxia, Parki... OMIM:606693
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Inability to walk, Ataxia, Failure to thrive, Tremor, Large fleshy ears, Hypertonia OMIM:619556
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Ataxia, Progressive external ophthalmoplegia, Chorea, Tremor, Mu... OMIM:208920
Gerstmann-Straussler Disease
Spasticity, Parkinsonism, Limb ataxia, Lower limb muscle weakness, Apraxia, Rigidity, Tremor, Bra... OMIM:137440
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor, Bradyki... ORPHA:240085
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Apnea, Hypothermia, Tachypnea, Weight loss ORPHA:20
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Parkinsonism, Inability to walk, Gait disturbance, Clumsiness, Ankle c... OMIM:617013
Fragile X Tremor/Ataxia Syndrome
Obsessive-compulsive trait, Parkinsonism, Impaired distal vibration sensation, Impaired tandem ga... OMIM:300623
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Oculopharyngodistal Myopathy 3
Ataxia, Neck muscle weakness, Tremor, Ophthalmoplegia, Limb muscle weakness OMIM:619473
Neuronal Intranuclear Inclusion Disease
Tremor, Muscle weakness, Ataxia, Rigidity OMIM:603472
Dopamine Beta-Hydroxylase Deficiency
Rhinitis, Dyspnea, Hypothermia ORPHA:230
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Muscle weakness, Decreased circulating antibody level, Decreased circulating IgA level OMIM:617744
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Inability to walk, Ataxia, Broad-based gait, Generalized dystonia, Head ... OMIM:312080
Intellectual Developmental Disorder, Autosomal Recessive 39
Synophrys, Abnormal repetitive mannerisms, Anteverted ears, Macrotia OMIM:615541
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Leukodystrophy, Hypomyelinating, 6
Spasticity, Oculomotor apraxia, Ataxia, Short stature, Rigidity, Tremor, Optic atrophy, Choreoath... OMIM:612438
Immunodeficiency 95
Lymphopenia OMIM:619773
Congenital Hypothyroidism