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Gene: Ache MGI:87876

Gene Summary

Name:

acetylcholinesterase

Synonyms:

N/A

Order Alleles

IMPC Data Collections

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Ache^em1(IMPC)Mbp	HOM	Early adult	0.00
hemorrhage	Ache^em1(IMPC)Mbp	HOM	E18.5	0.00
increased neutrophil cell number	Ache^em1(IMPC)Mbp	HET	Early adult	3.36×10^-07
small heart	Ache^em1(IMPC)Mbp	HET	Early adult	0.00
no spontaneous movement	Ache^em1(IMPC)Mbp	HOM	E18.5	0.00
no spontaneous movement	Ache^em1(IMPC)Mbp	HET	E18.5	0.00
abnormal heart morphology	Ache^em1(IMPC)Mbp	HET	Early adult	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

120 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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MicroCT E18.5

Embryo reconstruction

9 Images

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Gross Morphology Embryo E18.5

Images

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.

Human diseases associated with Ache (0 diseases)
Human diseases predicted to be associated with Ache (883 diseases)

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	Matching phenotypes	Source
Peroneus Tertius Muscle, Absence Of	Foot dorsiflexor weakness	OMIM:261400
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	Episodic ataxia, Muscle weakness	OMIM:611907
Primary Orthostatic Tremor	Abnormality of extrapyramidal motor function, Tremor	ORPHA:238606
Episodic Ataxia, Type 8	Episodic ataxia, Intention tremor, Ataxia, Muscle weakness, Slurred speech	OMIM:616055
Tremor, Hereditary Essential, 1	Action tremor, Hand tremor, Postural tremor	OMIM:190300
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech	OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Spastic Paraplegia 42, Autosomal Dominant	Spastic gait, Babinski sign, Muscle weakness, Spastic paraplegia	OMIM:612539
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce...	OMIM:619130
Dystonia 27	Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo...	OMIM:616411
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Tremor, Proximal muscle weakness, Distal muscle weakness	OMIM:182980
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A...	ORPHA:98769
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto...	ORPHA:464440
Episodic Ataxia, Type 1	Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech	OMIM:160120
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Dystonia 3, Torsion, X-Linked	Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication...	OMIM:314250
Dystonia 31	Abnormal posturing, Difficulty walking, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm ...	OMIM:619565
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia, Muscle weakness	OMIM:611105
Glanzmann Thrombasthenia 2	Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Decreased platelet g...	OMIM:619267
Tremor, Hereditary Essential, 5	Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor	OMIM:616736
Autosomal Recessive Spastic Paraplegia Type 71	Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia	ORPHA:401840
Sandhoff Disease, Adult Form	Fasciculations, Spasticity, Tremor, Upper limb muscle weakness, Gait ataxia, Focal dystonia, Dyst...	ORPHA:309169
Spinocerebellar Ataxia Type 38	Distal muscle weakness, Tremor, Gait ataxia	ORPHA:423296
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Spinocerebellar Ataxia 20	Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor	OMIM:608687
Myoclonus, Familial, 1	Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus	OMIM:614937
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Vocal tremor, Head tremor	OMIM:618866
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor	OMIM:611092
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Tremor, Vocal cord paralysis, Distal muscle weakness	OMIM:158580
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Primary Dystonia, Dyt13 Type	Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio...	ORPHA:98807
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal muscle weakness	OMIM:614369
Episodic Kinesigenic Dyskinesia 2	Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements	OMIM:611031
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism	OMIM:300911
Spinocerebellar Ataxia 38	Limb ataxia, Tremor, Gait ataxia, Distal muscle weakness, Ataxia, Myoclonus	OMIM:615957
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired epinephrine-induced plat...	OMIM:187950
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl...	OMIM:173590
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Temperature instability, Abnormal ...	OMIM:618049
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra...	OMIM:614561
Facial Onset Sensory And Motor Neuronopathy	Fasciculations, Muscle weakness	ORPHA:85162
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Tremor, Waddling gait, Macrotia, Inappropriate laughter, Narrow palpebral fiss...	OMIM:616269
Monomelic Amyotrophy	Fasciculations, Tremor, Muscle weakness	ORPHA:65684
Paroxysmal Non-Kinesigenic Dyskinesia	Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Generalized muscle weakness, Chorea, ...	ORPHA:98810
Tremor, Hereditary Essential, 2	Upper limb postural tremor, Kinetic tremor	OMIM:602134
Glanzmann Thrombasthenia 1	Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired platelet ag...	OMIM:273800
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low...	ORPHA:251282
Caribbean Parkinsonism	Bradykinesia, Orthostatic hypotension, Apraxia, Abnormal autonomic nervous system physiology, Act...	ORPHA:97355
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia	OMIM:618425
Bleeding Disorder, Platelet-Type, 22	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb...	OMIM:618462
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dist...	OMIM:607317
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Thrombocytopenia 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Dystonia, Torticollis, Involuntary movements	OMIM:620245
Spinocerebellar Ataxia Type 35	Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Torticollis, Neck muscle weakness, Gai...	ORPHA:276193
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Thrombocytopenia	ORPHA:231393
Spinocerebellar Ataxia 18	Babinski sign, Dysdiadochokinesis, Tremor, Limb muscle weakness, Progressive gait ataxia, Dysmetria	OMIM:607458
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Tremor, Muscle weakness	OMIM:615048
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Babinski sign, Hypertonia, Hypothermia, Limb hypertonia, Inguinal hernia, Abnormal...	OMIM:614498
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Unsteady gait, Ataxia, Dysphagia	OMIM:615945
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Spinocerebellar Ataxia 40	Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare...	OMIM:616053
Familial Cold Autoinflammatory Syndrome 4	Fever	OMIM:616115
N-Acetylaspartate Deficiency	Broad-based gait, Truncal ataxia, Decreased body weight, Unsteady gait, Motor stereotypy, Self-mu...	OMIM:614063
Dystonia 11, Myoclonic	Tremor, Myoclonus, Torticollis, Writer's cramp	OMIM:159900
Anhidrosis, Isolated, With Normal Sweat Glands	Heat intolerance	OMIM:106190
Spinocerebellar Ataxia 43	Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia	OMIM:617018
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Whim Syndrome 2	Chronic neutropenia, Tetralogy of Fallot	OMIM:619407
Spinocerebellar Ataxia Type 31	Spasticity, Tremor, Gait ataxia	ORPHA:217012
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Fever	ORPHA:183713
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors	Proximal muscle weakness, External ophthalmoplegia, Fatigable weakness	OMIM:254190
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Paroxysmal dyskinesia, Falls, Chorea, Dystonia, Ataxia, Inappropriate laughter, Motor stereotypy,...	OMIM:619150
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Developmental And Epileptic Encephalopathy 78	Chorea, Spasticity, Hypothermia, Cerebral palsy	OMIM:618557
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Fasciculations, Muscle weakness, Limb muscle weakness	OMIM:619141
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l...	ORPHA:101110
Oculopharyngeal Myopathy With Leukoencephalopathy 1	External ophthalmoplegia, Tremor, Distal muscle weakness, Ataxia, Proximal muscle weakness	OMIM:618637
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls	OMIM:616921
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Multiple System Atrophy	Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n...	ORPHA:102
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Dystonia, Frequent falls, Myoclonus	OMIM:619647
Muscular Dystrophy, Congenital, With Rapid Progression	Muscle weakness	OMIM:254100
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Poor head control, Tremor, Dystonia, Myoclonus	OMIM:619651
Dystonia 13, Torsion, Autosomal Dominant	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Paroxysmal dyskinesia, Neck muscle weakness, Limb hypertonia, Generalized muscle weakness, Restin...	OMIM:606703
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Hemiballismus, Frequent falls, Tremor, Chorea	ORPHA:494526
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Growth delay, Hypothermia, Abnormal autonomic nervous system physiology, Myoclonus	ORPHA:168593
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Failure to thrive, Posteriorly rotated ears, ...	OMIM:609425
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Barth Syndrome	Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis	ORPHA:111
Dystonia 24	Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia	OMIM:615034
Spinal Muscular Atrophy, Type Ii	Tongue fasciculations, Hand tremor, Muscle weakness	OMIM:253550
Spinocerebellar Ataxia Type 28	Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Rigidity, Dyston...	ORPHA:101109
Migraine, Familial Hemiplegic, 1	Tremor, Fever, Hemiparesis, Ataxia, Hemiplegia	OMIM:141500
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Motor ster...	OMIM:608636
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Babinski sign, External ophthalmoplegia, Truncal ataxia, Spasticity, Tremor, Ankle c...	OMIM:615768
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Multiple System Atrophy, Parkinsonian Type	Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n...	ORPHA:98933
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Tip-toe gait, Inability to walk, Spasticity, Frequent falls, Gait disturbance...	ORPHA:216866
Atypical Pantothenate Kinase-Associated Neurodegeneration	Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Compulsive be...	ORPHA:216873
Fraxe Intellectual Disability	Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp...	ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Spastic diplegia...	OMIM:617270
Macrophagic Myofasciitis	Generalized muscle weakness, Myalgia, Arthralgia, Fatigue	ORPHA:592
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Optic atrophy, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dyst...	ORPHA:329284
Huntington Disease-Like 1	Abnormal posturing, Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Frequent ...	ORPHA:157941
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Dystonia 23	Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Myoclonus	OMIM:614860
Primary Dystonia, Dyt2 Type	Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener...	ORPHA:99657
Parkinson Disease 7, Autosomal Recessive Early-Onset	Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ...	OMIM:606324
Spinocerebellar Ataxia 35	Babinski sign, Neck muscle weakness, Torticollis, Incoordination, Intention tremor, Ataxia, Dysme...	OMIM:613908
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia, Lower lim...	OMIM:600363
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ...	OMIM:615888
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy, Hand tremor	OMIM:617862
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticolli...	OMIM:128100
Dystonia, Dopa-Responsive	Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic...	OMIM:128230
Parkinson Disease 17	Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Hypothermia	ORPHA:29822
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Temperature instability, Abnormal autonomic nervous system physiology, Gait ataxia,...	ORPHA:99027
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Spasticity, Involuntary movements, Dystonia, Motor stereotypy, Self-injurious ...	OMIM:617820
Spinocerebellar Ataxia Type 37	Falls, Truncal ataxia, Sensorineural hearing impairment, Dysdiadochokinesis, Tremor, Myoclonus, C...	ORPHA:363710
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Low-set ears, Failure to thrive, Ataxia, Epicanthus	OMIM:618951
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Multiple System Atrophy, Cerebellar Type	Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnorma...	ORPHA:227510
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Tremor, Limb dystonia, Hearing impairment, Obesity, Ataxia, Aggressive behavior	OMIM:620270
Baker-Gordon Syndrome	Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Involuntary movements, Dyston...	OMIM:618218
Developmental And Epileptic Encephalopathy 97	Poor head control, Tremor	OMIM:619561
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Abnormal platelet count, Prolonged bleeding time,...	OMIM:614201
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Postlingual sensorineural hearing impairment, Spasticity, Tremor, Dystonia, D...	OMIM:304700
Spinal Muscular Atrophy, Type Iii	Limb fasciculations, Pelvic girdle muscle weakness, Tongue fasciculations, Proximal muscle weakne...	OMIM:253400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia	OMIM:124900
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Impaired a...	OMIM:614009
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Tremor, Distal muscle weakness, Gait ataxia, Limb muscle weakness, Ataxia, Foot dorsiflexor weakn...	OMIM:618387
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Clonus, Spastic parapleg...	ORPHA:139578
Coenzyme Q10 Deficiency, Primary, 5	Intrauterine growth retardation, Hypertonia, Dystonia, Hypothermia	OMIM:614654
Dystonia 16	Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Postural tremor	ORPHA:210571
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur...	ORPHA:420485
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor, Generalized muscle weakness	OMIM:609153
Pulmonary Blastoma	Fever, Weight loss	ORPHA:64741
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Compulsive behaviors, Speech apraxia, Inflexible adherence to routines, Downslanted palpebral fis...	OMIM:613670
Spastic Ataxia 2, Autosomal Recessive	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head...	OMIM:611302
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Tremor, Spastic tetraparesis, Motor stereotypy, Aggressive behavior	OMIM:619470
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Fever	ORPHA:319600
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Pontocerebellar Hypoplasia, Type 11	Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Spasticity, Decreased body ...	OMIM:617695
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Parkinson Disease 6, Autosomal Recessive Early-Onset	Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism	OMIM:605909
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Inability to walk, Hyperactivity, Spasticity, Tremor, Dystonia, Ataxi...	ORPHA:599373
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, Macrothr...	OMIM:187800
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech	OMIM:609161
Asperger Syndrome, Susceptibility To, 1	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608631
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l...	OMIM:610245
Optic Atrophy 3, Autosomal Dominant	Abnormality of extrapyramidal motor function, Tremor	OMIM:165300
Urocanase Deficiency	Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria, Aggressive behavior	OMIM:276880
Parkinson-Dementia Syndrome	Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Ophthalmoparesis	OMIM:260540
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Agitation, Aggressive behavior, Motor stereotypy, Involuntary movements	OMIM:617171
Spinocerebellar Ataxia 12	Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa...	OMIM:604326
Primary Erythromelalgia	Hypothermia	ORPHA:90026
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Motor stereotypy	OMIM:606053
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Hypertonia, Impaired tactile sensation, Tremor, Low-set ears, Gait ataxia, Ataxia, Large fleshy e...	OMIM:619092
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Abnormal autonomic nervous system physiology	DECIPHER:59
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Inability to walk, Hyperactivity, Spasticity, Tremor, Low-set ears, Motor stereotypy, Self-injuri...	OMIM:618718
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Fasciculations, Tongu...	ORPHA:276435
Autism, Susceptibility To, X-Linked 3	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300425
Spinocerebellar Ataxia, Autosomal Recessive 8	Limb ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Spasticity, Abnormal au...	OMIM:610743
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Babinski sign, Bradykinesia, Progressive extrapyramidal muscular rigidity, Ch...	ORPHA:225147
Spinocerebellar Ataxia Type 12	Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t...	ORPHA:98762
Dystonia 7, Torsion	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,...	OMIM:602124
Spinocerebellar Ataxia, X-Linked 1	Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Dysphagia,...	OMIM:302500
Foxg1 Syndrome	Hyperkinetic movements, Difficulty walking, Inability to walk, Bruxism, Spasticity, Decreased bod...	ORPHA:561854
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Adult Neuronal Ceroid Lipofuscinosis	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign...	ORPHA:79262
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Corticobasal Syndrome	Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo...	ORPHA:454887
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Hypertonia, Agitation, Spasticity, Tremor, Dystonia, Unsteady gait, Dysphagia, Moto...	OMIM:617435
Ataxia-Pancytopenia Syndrome	Decreased circulating antibody level, Abnormal platelet function, Ataxia	ORPHA:2585
Dystonia 2, Torsion, Autosomal Recessive	Torsion dystonia, Tremor, Blepharospasm, Torticollis	OMIM:224500
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Gowers sign, Tremor, Facial palsy, Frequent falls, Respiratory insufficien...	OMIM:159950
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy	OMIM:618709
X-Linked Non Progressive Cerebellar Ataxia	Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi...	ORPHA:314978
Hyperphenylalaninemia, Bh4-Deficient, C	Hypertonia, Tremor, Recurrent fever, Dystonia, Myoclonus, Choreoathetosis	OMIM:261630
Dystonia 12	Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism, Dysphagia	OMIM:128235
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis	OMIM:615924
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Fasciculations, Tremor, Upper limb muscle weakness, Cold pa...	ORPHA:99965
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Babinski sign, Gait disturbance, Rigidity, Dystonia, Disinhibition, Restl...	OMIM:600795
Autism	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:209850
Autism, Susceptibility To, 8	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:607373
Dystonia 28, Childhood-Onset	Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ...	OMIM:617284
Riboflavin Transporter Deficiency	Abnormal cranial nerve morphology, Cachexia, Tremor, Facial palsy, Abnormal autonomic nervous sys...	ORPHA:97229
Malignant Hyperthermia, Susceptibility To, 4	Malignant hyperthermia	OMIM:600467
Fatal Familial Insomnia	Abnormal autonomic nervous system physiology, Fever, Ataxia, Weight loss, Myoclonus	OMIM:600072
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Bulbar palsy, Tremor, Limb muscle weakness	OMIM:313200
Tetanus	Hypertonia, Tremor, Abnormal autonomic nervous system physiology, Fever, Rigidity, Opisthotonus, ...	ORPHA:3299
Spinocerebellar Ataxia 7	Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore...	OMIM:164500
Spinocerebellar Ataxia 48	Babinski sign, Chorea, Cachexia, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysphagia, ...	OMIM:618093
Riboflavin Deficiency	Hypothermia	OMIM:615026
Atypical Rett Syndrome	Pill-rolling tremor, Agitation, Restrictive behavior, Inability to walk, Apraxia, Tongue thrustin...	ORPHA:3095
Platelet Disorder, Undefined	Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia	OMIM:173420
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Babinski sign, Hypertonia, Spasticity, Tremor, Distal muscle weakness, Limb muscle weakness, Foot...	OMIM:609260
Asherman Syndrome	Secondary amenorrhea, Infertility, Episodic abdominal pain, Oligomenorrhea, Dysmenorrhea, Abnorma...	ORPHA:137686
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:620482
Developmental And Epileptic Encephalopathy 58	Inability to walk, Motor stereotypy, Spastic diplegia	OMIM:617830
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Tremor, Spasticity, Ataxia, Aggressive behavior	OMIM:300983
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Tremor, Myoclonus	OMIM:615400
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ...	ORPHA:521406
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Babinski sign, Difficulty walking, Broad-based gait, Tremor, Low-set ears, Spastic paraplegia, Fa...	ORPHA:477673
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Parkinsonism, Weight loss, Abnormal autonomic nervous system physiology	OMIM:605543
Amyotrophic Lateral Sclerosis 18	Fasciculations, Spasticity, Muscle weakness	OMIM:614808
Congenital Disorder Of Glycosylation, Type Iibb	Spasticity, Tremor, Low-set ears, Macrotia, Failure to thrive, Antalgic gait, Tetraparesis, Aggre...	OMIM:620546
Spastic Paraplegia 78, Autosomal Recessive	Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s...	OMIM:617225
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Amyotrophy, Monomelic	Fasciculations, Cold paresis, Upper limb muscle weakness	OMIM:602440
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria	OMIM:617917
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Incoordination, Abnormal pinna morphology, Stereotypical hand wringing, Gait distu...	OMIM:614104
Pontiac Fever	Fever	ORPHA:99748
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Spasticity, Compulsive behaviors, Stereotypical hand wringing, Gait at...	OMIM:618917
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign, Proximal mus...	ORPHA:139485
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Difficulty walking, Inability to walk, Sensorineural hearing impairment, Tremor...	ORPHA:2590
Autism Spectrum Disorder Due To Auts2 Deficiency	Bilateral ptosis, Short palpebral fissure, Hypertonia, Highly arched eyebrow, Hyperactivity, Spas...	ORPHA:352490
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia	OMIM:610006
Mitchell Syndrome	Clumsiness, Abnormal autonomic nervous system physiology	OMIM:618960
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Tremor, Impulsivity, Oppositional defiant disorder, Ataxia, Myoclonus, Imp...	OMIM:619028
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Proximal Myopathy With Extrapyramidal Signs	Progressive extrapyramidal muscular rigidity, Chorea, Resting tremor, Involuntary movements, Prog...	ORPHA:401768
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior	OMIM:239500
Idiopathic Congenital Hypothyroidism	Hypothermia, Umbilical hernia	ORPHA:95717
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Attention deficit hype...	OMIM:619725
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Temperature instability...	ORPHA:70594
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Distal muscle weakness	ORPHA:101078
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares...	ORPHA:282166
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Muscle weakness	OMIM:159050
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li...	OMIM:213600
Progressive Nodular Histiocytosis	Fever, Cachexia	ORPHA:158022
Aromatic L-Amino Acid Decarboxylase Deficiency	Babinski sign, Intermittent hypothermia, Torticollis, Oculogyric crisis, Limb hypertonia, Athetos...	OMIM:608643
Cyanide-Induced Parkinsonism-Dystonia	Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl...	ORPHA:306692
Menkes Disease	Babinski sign, Hypertonia, Hypothermia, Short stature, Intrauterine growth retardation	OMIM:309400
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed puberty, Babinski sign, Optic atrophy, Spastic dysarthria, Spasticity, Upper motor neuron...	ORPHA:447896
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Limb hypertonia, Inability to walk, Highly arched eyebrow, Chorea, Long eyel...	OMIM:618004
Spinocerebellar Ataxia Type 3	Abnormality of temperature regulation, Progressive cerebellar ataxia, Abnormality of extrapyramid...	ORPHA:98757
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Epilepsy, Familial Adult Myoclonic, 1	Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex	OMIM:601068
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Hyperactivity, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria	OMIM:618090
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus	ORPHA:98763
Charcot-Marie-Tooth Disease And Deafness	Ankle weakness, Tremor, Limb muscle weakness, Distal muscle weakness, Foot dorsiflexor weakness	OMIM:118300
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, ...	ORPHA:504476
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Highly arched eyebrow, Sensorineural hearing impairment, Hyperactivity, Tremor, Low-set ears, Dec...	OMIM:618342
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dystonia, Parkinson...	OMIM:300894
Myositis	Proximal muscle weakness	OMIM:160750
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid...	ORPHA:101150
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet...	OMIM:155100
Amish Nemaline Myopathy	Respiratory insufficiency due to muscle weakness, Tremor, Progressive muscle weakness	ORPHA:98902
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, Resting tremor...	ORPHA:3077
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Growth delay, Tongue fasciculations, Hypothermia, Exaggerated startle response	OMIM:608800
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga...	OMIM:616710
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Ataxia, Muscle weakness	OMIM:300619
Obesity Due To Sim1 Deficiency	Obesity, Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tac...	ORPHA:369873
Sudden Infant Death Syndrome	Malignant hyperthermia	OMIM:272120
Proteasome-Associated Autoinflammatory Syndrome 5	Fever, Failure to thrive in infancy	OMIM:619175
X-Linked Charcot-Marie-Tooth Disease Type 1	Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment, Ataxia	ORPHA:101075
Behavioral Variant Of Frontotemporal Dementia	Inappropriate behavior, Restrictive behavior, Fasciculations, Abnormality of extrapyramidal motor...	ORPHA:275864
Autosomal Spastic Paraplegia Type 58	Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ...	ORPHA:397946
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Inappropriate behavior, Oculomotor apraxia, Falls, Tremor by anatomical site, Extra...	ORPHA:99750
Spinocerebellar Ataxia 50	Apraxia, Chorea, Head tremor, Hearing impairment, Ptosis, Action tremor, Ataxia, Myoclonus, Postu...	OMIM:620158
X-Linked Charcot-Marie-Tooth Disease Type 3	Tremor, Progressive distal muscle weakness, Foot dorsiflexor weakness, Spastic paraparesis, Proxi...	ORPHA:101077
Machado-Joseph Disease	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula...	OMIM:109150
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Intrauterine growth retardation, Failure to thrive, Hypothermia, Growth delay	OMIM:245400
Severe Intellectual Disability And Progressive Spastic Paraplegia	Babinski sign, Difficulty walking, Spastic dysarthria, Spasticity, Waddling gait, Dystonia, Motor...	ORPHA:280763
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Motor stereotypy	OMIM:300271
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Recu...	OMIM:261640
Spinocerebellar Ataxia Type 36	Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at...	ORPHA:276198
Rapid-Onset Dystonia-Parkinsonism	Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par...	ORPHA:71517
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Heari...	OMIM:617145
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa...	OMIM:620486
Epilepsy, Familial Adult Myoclonic, 3	Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex, Myoclonus	OMIM:613608
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Roussy-Levy Hereditary Areflexic Dystasia	Action tremor, Upper limb postural tremor, Distal muscle weakness, Gait ataxia	OMIM:180800
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Spinocerebellar Ataxia Type 27	Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,...	ORPHA:98764
Infantile Neuroaxonal Dystrophy	Optic atrophy, Spasticity, Progressive spasticity, Spastic tetraparesis, Temperature instability,...	ORPHA:35069
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Chronic otitis media, Oral-pharyngeal dysphagia, Tremor, Low-set ears, Long eyelashes, Hearing im...	ORPHA:480907
X-Linked Dystonia-Parkinsonism	Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav...	ORPHA:53351
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ophthalmoplegia, At...	ORPHA:1170
Familial Dyskinesia And Facial Myokymia	Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus	ORPHA:324588
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Bruxism, Tremor, Shuffling ga...	OMIM:300055
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Lateral ventricle ...	ORPHA:306669
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee...	OMIM:600116
Parkinsonism With Polyneuropathy	Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ...	OMIM:619279
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia, Small for gestational age	OMIM:278780
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Abnormality of temperature regulation, Hypothermia, Elbow flexion contracture, Sho...	OMIM:618493
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:615362
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Tremor, Dystonia, Ataxia, Dysphagia, Loss of ambulation, Dysmetria	OMIM:617916
Christianson Syndrome	Truncal ataxia, Cachexia, Gait ataxia, Macrotia, Dystonia, Thick eyebrow, Dysphagia, Inappropriat...	ORPHA:85278
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Decreased nerve conduction velocity, Tremor, Short stature, Ataxia	ORPHA:1368
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Spasticity, Temperature instability, Abnormal autonomic nervous system physiology,...	OMIM:616683
Dystonia 16	Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Abnormal pyramidal sign, Parkins...	OMIM:612067
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal vestibulo-ocular reflex, Babinski sign, Resting tremor, Abnormal cranial nerve morpholog...	ORPHA:247234
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c...	ORPHA:363654
Xq28 (MECP2) duplication	Inability to walk, Progressive spasticity, Gait ataxia, Macrotia, Failure to thrive, Dysphagia, M...	DECIPHER:45
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin...	OMIM:615157
N-Acetylglutamate Synthase Deficiency	Failure to thrive, Hypertonia, Hypothermia	OMIM:237310
Non-Specific Early-Onset Epileptic Encephalopathy	Difficulty walking, Limb hypertonia, Spasticity, Tremor, Impulsivity, Involuntary movements, Ptos...	ORPHA:442835
Atypical Juvenile Parkinsonism	Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta...	ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Spasticity, Tremor, Frequent falls, Gait ataxia, Distal muscle weakness	OMIM:616719
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral ptosis, Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Dystonia	ORPHA:330050
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,...	OMIM:606159
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Anteverted ears, Synophrys, Macrotia, Motor stereotypy, Aggressive behavior	OMIM:615541
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Spasticity, Abnormal autonomic nervous system physiology, Limb dystonia, Rigidity...	OMIM:616840
Alexander Disease Type Ii	Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Rigidity, Ataxia, Spasti...	ORPHA:363722
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Telecanthus, Prominent ear helix, Synophrys, Long eyelashes, Thick eyebrow, Mo...	ORPHA:411986
Radio-Tartaglia Syndrome	Highly arched eyebrow, Impulsivity, Attention deficit hyperactivity disorder, Ataxia, Dysphagia, ...	OMIM:619312
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Failure to thrive, Spasticity, Difficulty walking, Motor stereotypy	OMIM:617393
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Neu...	ORPHA:240085
Spinocerebellar Ataxia, Autosomal Recessive 13	Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ptosis, Ataxia, Abnormal pyramidal si...	OMIM:614831
Syngap1-Related Developmental And Epileptic Encephalopathy	Obsessive-compulsive trait, Abnormality of pain sensation, Tremor, Anteverted ears, Recurrent han...	ORPHA:544254
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti...	OMIM:606693
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Ataxia, Muscle weakness, Paraparesis	ORPHA:99014
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis, Fever, Abnormal autonomic nervous system physiology	ORPHA:83601
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Spastic tetraplegia, Self-injurious behavior, Hypertonia, Motor stereotypy	OMIM:615282
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Sensorineural hearing...	OMIM:302800
Infantile Neuronal Ceroid Lipofuscinosis	Poor head control, Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dy...	ORPHA:79263
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Hypothermia, Umbilical hernia	ORPHA:226313
Undifferentiated Pleomorphic Sarcoma	Fever, Weight loss	ORPHA:2023
Alexander Disease	Hypothermia, Chorea, Tetraplegia, Tremor, Spasticity, Abnormal autonomic nervous system physiolog...	ORPHA:58
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impaired distal pro...	ORPHA:137898
Digital Extensor Muscle Aplasia-Polyneuropathy	Camptodactyly of finger, Abnormality of temperature regulation, Abnormal nerve conduction velocit...	ORPHA:2926
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fasciculations, Gowers sign, Tremor, Upper limb muscle weakness, Lower limb muscle weakness	ORPHA:209335
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism, Rigidity	OMIM:614251
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Truncal ataxia, Sensorineural hearing impairment, Tremor, Dysdiadochokinesis, G...	OMIM:610185
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Progressive cerebellar ataxia, Spasticity, Frequent falls, Intention tremor, Gait ...	ORPHA:466794
Spinocerebellar Ataxia, Autosomal Recessive 31	Bruxism, Tremor, Bilateral sensorineural hearing impairment, Ptosis, Dystonia, Ataxia, Dysphagia,...	OMIM:619422
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus	OMIM:614018
Hsd10 Disease	Tremor, Gait disturbance, Hearing impairment, Rigidity, Ataxia, Dysphagia, Myoclonus, Spastic par...	ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Compulsive behaviors, Titubation, Ataxia, Unsteady gait, Dysmetria	OMIM:619405
Spinocerebellar Ataxia 15	Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor	OMIM:606658
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Ataxia, Spastic atax...	OMIM:616795
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypothermia, Small for gestational age, Hyperventilation	OMIM:618775
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Inability to walk, Lower limb spasticity, Chorea, Progressive spasticity, Low-set ears, Decreased...	OMIM:300260
Parkinsonian-Pyramidal Syndrome	Bradykinesia, Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Intention ...	ORPHA:171695
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia	OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 7	Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Dysphagi...	OMIM:609270
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism...	OMIM:619738
Myoclonic-Atonic Epilepsy	Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Limb fasciculations, Tremor, Upper limb muscle weakness, Fatiguable weakness of proximal limb mus...	ORPHA:90117
Developmental And Epileptic Encephalopathy 6B	Hyperkinetic movements, Inability to walk, Chorea, Dystonia, Ataxia, Motor stereotypy, Myoclonus,...	OMIM:619317
Posttransplant Acute Limbic Encephalitis	Dystonia, Ataxia, Abnormal autonomic nervous system physiology, Myoclonus	ORPHA:163921
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign, Proximal muscle weakness	OMIM:612016
Parkinson Disease, Late-Onset	Bradykinesia, Resting tremor, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dys...	OMIM:168600
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ...	ORPHA:352649
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Hyperkinetic movements, Tremor, Gait disturbance, Macrotia, Upper limb spasticity, Motor stereoty...	ORPHA:457240
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal muscle weakness	OMIM:607734
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria	OMIM:213200
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Hypertonia, Inability to walk, Tremor, Failure to thrive, Ataxia, Large fleshy ears, Attention de...	OMIM:619556
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Malignant hyperthermia, Torticollis	OMIM:217150
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid...	ORPHA:240071
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Arthrogryposis multiplex congenita, Abnormal autonomic nervous system phys...	OMIM:243180
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Muscle weakness	OMIM:254950
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus	OMIM:618587
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Telecanthus, Hyperactivity, Almond-shaped palpebral fissure, Macrotia, Downslanted palpebral fiss...	OMIM:620292
Multicentric Reticulohistiocytosis	Fever, Cachexia	ORPHA:139436
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Abnormal autonomic nervous system ph...	OMIM:105210
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Crigler-Najjar Syndrome Type 1	Oculomotor nerve palsy, Tremor	ORPHA:79234
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor...	OMIM:612736
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ...	OMIM:607483
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation	OMIM:609821
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Failure to thrive, Ataxia, Myoclonus	OMIM:616494
Mohr-Tranebjaerg Syndrome	Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Babins...	ORPHA:52368
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
4Q21 Microdeletion Syndrome	Tremor, Low-set ears, Synophrys, Hearing impairment, Ptosis, Long eyelashes, Agenesis of corpus c...	ORPHA:238750
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Hemiplegia/hemiparesis, Dystonia, Ataxia, Muscle weakness...	ORPHA:96
Chromosome 2Q37 Deletion Syndrome	Highly arched eyebrow, Sensorineural hearing impairment, Hyperactivity, Stereotypical hand wringi...	OMIM:600430
Pelizaeus-Merzbacher Disease, Classic Form	Poor head control, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic t...	ORPHA:280219
Meningococcal Meningitis	Fever, Papilledema, Hypothermia	ORPHA:33475
Late-Infantile/Juvenile Krabbe Disease	Acroparesthesia, Delayed brainstem auditory evoked response conduction time, Difficulty walking, ...	ORPHA:206443
Pelizaeus-Merzbacher Disease	Writer's cramp, Inability to walk, Broad-based gait, Tremor, Intention tremor, Hearing impairment...	OMIM:312080
Behr Syndrome	Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Gait disturbance, ...	OMIM:210000
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Babinski sign, Spasticity, Autonomic erectile dysfunction, Ataxia, Orthostatic hypotension due to...	OMIM:169500
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Oromotor apraxia, Spasticity, Abnormal autonomic nervous system physiology, Growth...	ORPHA:466934
Fragile X Tremor/Ataxia Syndrome	Bradykinesia, Obsessive-compulsive trait, Resting tremor, Poor fine motor coordination, Dysdiadoc...	OMIM:300623
Spinocerebellar Ataxia 29	Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ata...	OMIM:117360
Oculopharyngodistal Myopathy 4	Postural tremor, External ophthalmoplegia, Tremor, Distal muscle weakness	OMIM:619790
Sneddon Syndrome	Chorea, Hemiparesis, Tremor, Muscle weakness	ORPHA:820
Amyotrophic Lateral Sclerosis 8	Progressive muscle weakness, Fasciculations, Distal muscle weakness, Abnormal pyramidal sign, Pro...	OMIM:608627
Neurodevelopmental Disorder With Dystonia And Seizures	Chorea, Athetosis, Temperature instability, Dystonia, Spastic tetraplegia, Intrauterine growth re...	OMIM:619922
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Difficulty walking, Broad-based gait, Spasticity, Gait ataxia, Dystonia, Motor stereotypy, Promin...	OMIM:617807
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Overweight, Motor stereotypy	OMIM:620065
Spinocerebellar Ataxia With Epilepsy	Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Ptosis, Dystonia, Myoclon...	ORPHA:254881
Urocanic Aciduria	Action tremor, Truncal ataxia, Ataxia, Gait ataxia	ORPHA:210128
Familial Thyroid Dyshormonogenesis	Hypothermia, Umbilical hernia	ORPHA:95716
Autosomal Dominant Epilepsy With Auditory Features	Abnormal autonomic nervous system physiology	ORPHA:101046
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Impaired platelet aggregation, Abnormal platelet shape, Impaired ...	OMIM:601399
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Head tremor, Ptosis, Dystonia, Myoclonus, Impaired tandem gait, Hand...	OMIM:619724
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus...	OMIM:612953
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Short palpebral fissure, Hypertonia, Recurrent hand flapping, Compulsive behaviors, Gait disturba...	OMIM:300986
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hypertonia, Hypothermia, Chorea, Spasticity, Gait ataxia, Fever, Failure to thrive...	ORPHA:255210
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G...	OMIM:618877
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Spasticity, Low-set ears, Compulsive behaviors, Obesity, Posteriorly rotated ears,...	OMIM:618430
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ...	ORPHA:101
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Low-set ears, Motor stereotypy, Lateral ventricle dilatation, Upslanted palpeb...	OMIM:613443
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Ataxia	OMIM:603585
Dentici-Novelli Neurodevelopmental Syndrome	Hypertonia, Inability to walk, Hearing impairment, Macrotia, Motor stereotypy, Upslanted palpebra...	OMIM:619877
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Inability to walk, Involuntary movements, Lateral ventricle dilatation, Large earlobe, Bruxism, U...	OMIM:615716
Melkersson-Rosenthal Syndrome	Fever, Facial palsy, Abnormal autonomic nervous system physiology	ORPHA:2483
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa...	OMIM:137440
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Limb ataxia, Broad-based gait, Truncal ataxia, Low-set ears, Recurrent hand flapping, Downslanted...	OMIM:617101
Chromosome 5P13 Duplication Syndrome	Short palpebral fissure, Small for gestational age, Low-set ears, Compulsive behaviors, Long palp...	OMIM:613174
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Marbach-Schaaf Neurodevelopmental Syndrome	Short palpebral fissure, Recurrent otitis media, Torticollis, Tremor, Recurrent hand flapping, Sp...	OMIM:619680
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:614171
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Intellectual Developmental Disorder, Autosomal Dominant 34	Bilateral ptosis, Broad-based gait, Synophrys, Hearing impairment, Epicanthus, Motor stereotypy, ...	OMIM:616351
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Perry Syndrome	Bradykinesia, Inappropriate behavior, Akinesia, Tremor, Rigidity, Dystonia, Disinhibition, Parkin...	OMIM:168605
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Fasciculations, Tremor, Triceps weakness, Distal muscle weakness, First dorsal interossei muscle ...	OMIM:619574
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Oromandibular Dystonia	Hyperkinetic movements, Torticollis, Bruxism, Blepharospasm, Lingual dystonia, Limb dystonia, Dys...	ORPHA:93958
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Episodic ataxia, Ptosis, Dystonia, Agenesis of corpus callosum, Myoclonus, Choreoathetosi...	OMIM:312170
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Failure to thrive, Spasticity, Hypothermia	OMIM:618329
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Gait ataxia, Progressive externa...	OMIM:208920
Bilateral Generalized Polymicrogyria	Paroxysmal dyskinesia, Eyelid myoclonus, Oculogyric crisis, Oral-pharyngeal dysphagia, Spasticity...	ORPHA:208447
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Tremor, Decreased circulating IgA level, Muscle weakness	OMIM:617744
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia...	OMIM:615530
Hypermanganesemia With Dystonia 2	Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ...	OMIM:617013
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hypertonia, Tongue thrusting, Broad-based gait, Highly arched eyebrow, Hyperactivity, Progressive...	OMIM:617865
Oculopharyngodistal Myopathy 3	Neck muscle weakness, Tremor, Limb muscle weakness, Ophthalmoplegia, Ataxia	OMIM:619473
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Downslanted palpebral fissures, Motor stereotypy, Attention defici...	OMIM:301029
Neuronal Intranuclear Inclusion Disease	Rigidity, Tremor, Ataxia, Muscle weakness	OMIM:603472
Spinocerebellar Ataxia 2	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc...	OMIM:183090
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Short stature, Rigidity, Dystonia, Ataxia,...	OMIM:612438
Glycosylphosphatidylinositol Biosynthesis Defect 15	Inability to walk, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria	OMIM:617810
Bernard-Soulier Syndrome	Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Prolonged bleeding time, Impaired risto...	OMIM:231200
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Chorea, Recurrent hand flapping, Cerebral palsy, Slender build, Motor stereotypy, ...	OMIM:617600
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism, Clumsiness, Postural tremor	OMIM:619911
3-Hydroxy-3-Methylglutaric Aciduria	Hypothermia, Spastic hemiparesis, Spasticity, Fever, Ataxia, Weight loss, Myoclonus	ORPHA:20
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Tremor, Compulsive behaviors, Synophrys, Macrotia, Downslanted palpebral fissures, Ptosis, Thick ...	OMIM:617061
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system p...	OMIM:146500
Cerebral Creatine Deficiency Syndrome 1	Underfolded superior helices, Hypertonia, Broad-based gait, Spasticity, Gait disturbance, Speech ...	OMIM:300352
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Limb ataxia, Decreased distal sensory nerve action potential, Abnormal autonomic nervous system p...	OMIM:614575
Timothy Syndrome	Hypothermia	OMIM:601005
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Motor stereotypy, Thin eyebrow	OMIM:619690
Autism, Susceptibility To, X-Linked 2	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300495
2Q23.1 Microdeletion Syndrome	Highly arched eyebrow, Hyperactivity, Polyphagia, Synophrys, Ataxia, Motor stereotypy, Self-injur...	ORPHA:228402
Spinocerebellar Ataxia Type 18	Titubation, Head tremor, Hearing impairment, Gait ataxia, Somatic sensory dysfunction, Dysmetria	ORPHA:98771
Glutathionuria	Action tremor, Dysdiadochokinesis, Tremor, Agenesis of corpus callosum	OMIM:231950
Brody Disease	Fasciculations, Malignant hyperthermia, Flexion contracture	OMIM:601003
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Babinski sign, Spasticity, Disinhibition, Dysphagia, Motor stereotypy	OMIM:612069
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy	OMIM:618906
Proximal 16P11.2 Microduplication Syndrome	Decreased body mass index, Microtia, Tremor, Compulsive behaviors, Sparse eyelashes, Failure to t...	ORPHA:370079
Neuroleptic Malignant Syndrome	Hypothermia, Oculogyric crisis, Chorea, Extrapyramidal muscular rigidity, Tremor, Abnormal autono...	ORPHA:94093
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Spastic gait, Babinski sign, Scissor gait, Highly arched eyebrow, Truncal ataxia, Attention defic...	OMIM:619121
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Proximal muscle weakness, Tremor, Progressive distal muscle weakness, Lower limb muscle weakness	ORPHA:397744
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Hypertonia, Sensorineural hearing impairment, Tremor, Hemiparesis, Ob...	OMIM:619737
Sepsis In Premature Infants	Hypothermia, Decreased body weight, Temperature instability, Fever, Small for gestational age	ORPHA:90051
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Dysphagia, Loss of ambulation, Postural trem...	OMIM:607694
Rett Syndrome	Bradykinesia, Agitation, Difficulty walking, Limb apraxia, Inability to walk, Stereotypical hand ...	ORPHA:778
Adult-Onset Cervical Dystonia, Dyt23 Type	Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Head tremor, Focal dystonia, ...	ORPHA:420492
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Recurrent fever, Choreoathet...	OMIM:233910
Alazami Syndrome	Short palpebral fissure, Abnormality of the orbital region, Low-set ears, Stereotypical hand wrin...	ORPHA:319671
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Flexion contracture, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Interph...	OMIM:613870
Coffin-Siris Syndrome 6	Low-set ears, Conductive hearing impairment, Downslanted palpebral fissures, Posteriorly rotated ...	OMIM:617808
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent fever, Corneal scarring, Abnormal autonomic nervous system physiology, Postural hypoten...	OMIM:256800
Spinocerebellar Ataxia Type 21	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia,...	ORPHA:98773
Nmda Receptor Encephalitis	Orthostatic tachycardia, Orthostatic hypotension, Oculogyric crisis, Abnormal sudomotor regulatio...	ORPHA:217253
Machado-Joseph Disease Type 1	Babinski sign, Abnormality of temperature regulation, Progressive cerebellar ataxia, Facial-lingu...	ORPHA:276238
Machado-Joseph Disease Type 2	Babinski sign, Abnormality of temperature regulation, Progressive cerebellar ataxia, Facial-lingu...	ORPHA:276241
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Hermansky-Pudlak Syndrome 3	Impaired platelet aggregation, Abnormal number of dense granules	OMIM:614072
48,Xxyy Syndrome	Chronic otitis media, Tremor, Obesity, Ataxia, Epicanthus, Motor stereotypy, Attention deficit hy...	ORPHA:10
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia	OMIM:277480
Pilarowski-Bjornsson Syndrome	Broad eyebrow, Almond-shaped palpebral fissure, Speech apraxia, Long eyelashes, Downslanted palpe...	OMIM:617682
Hereditary Central Diabetes Insipidus	Growth delay, Fever, Weight loss	ORPHA:30925
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Tremor, Progressive muscle weakness	OMIM:605355
Spinocerebellar Ataxia Type 13	Bradykinesia, Limb ataxia, Difficulty walking, Torticollis, Impaired distal vibration sensation, ...	ORPHA:98768
Jaberi-Elahi Syndrome	Inability to walk, Appendicular spasticity, Broad-based gait, Tremor, Low-set ears, Gait ataxia, ...	OMIM:617988
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i...	OMIM:187900
Pyruvate Dehydrogenase Deficiency	Spasticity, Tremor, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Epicanthus, Abnormal pyra...	ORPHA:765
4H Leukodystrophy	Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf...	ORPHA:289494
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Chronic Pneumonitis Of Infancy	Fever, Failure to thrive, Hyperventilation	ORPHA:91359
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Obesity, Overweight, Hypothermia, Small for gestational age	ORPHA:26793
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypertonia, Hyperkinetic movements, Hypothermia, Growth delay, Failure to thrive, Dystonia, Flexi...	ORPHA:17
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Inability to walk, Chorea, Low-set ears, Stereotypical hand wringing, Synophrys, Involuntary move...	OMIM:617804
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Hypertonia, Truncal titubation, Agitation, Limb hypertonia, Tremor, Exaggerated startle response,...	OMIM:618056
Smith-Magenis Syndrome	Abnormal middle ear morphology, Head-banging, Hyperactivity, Impaired pain sensation, Self huggin...	OMIM:182290
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Limb hypertonia, Tongue thrusting, Recurrent hand flapping, Impulsivity, Gait ...	OMIM:619580
Severe Neurodegenerative Syndrome With Lipodystrophy	Generalized lipodystrophy, Spasticity, Tremor, Poor motor coordination, Limb dystonia, Gait ataxi...	ORPHA:363400
Myopathy With Extrapyramidal Signs	Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Hyperactivity, Tremor, ...	OMIM:615673
Isolated Thyroid-Stimulating Hormone Deficiency	Hypothermia, Growth delay, Failure to thrive, Umbilical hernia, Clumsiness	ORPHA:90674
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Sensorineural hearing impairment, Spasticity, Tremor, Gait disturbance, T...	OMIM:300957
Cri-Du-Chat Syndrome	Hypertonia, Difficulty walking, Small for gestational age, Hyperactivity, Abnormal pinna morpholo...	OMIM:123450
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Highly arched eyebrow, Downslanted palpebral fissures, Motor stereoty...	OMIM:618825
Nipah Virus Disease	Fever, Tremor, Myoclonus	ORPHA:99825
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Almond-shaped palpebral fissure, Speech apraxia, Downslanted palpebral fissures, Thick eyebrow, M...	ORPHA:529965
Young-Onset Parkinson Disease	Bradykinesia, Spasticity, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dystonia	ORPHA:2828
Autoinflammatory-Pancytopenia Syndrome	Growth delay, Failure to thrive, Recurrent fever, Fever, Lipodystrophy	OMIM:619858
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Abnormal autonomic nervous system physiology	OMIM:598500
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Babinski sign, Orthostatic hypotension, Abnormal autonomic nervous system physiolo...	OMIM:231550
Haddad Syndrome	Failure to thrive, Aganglionic megacolon, Small for gestational age, Abnormal autonomic nervous s...	ORPHA:99803
Developmental And Epileptic Encephalopathy 46	Failure to thrive, Tremor, Dysphagia, Limb hypertonia	OMIM:617162
Obesity-Hypoventilation Syndrome	Hypoventilation, Obesity	OMIM:257500
Rauch-Steindl Syndrome	Aggressive behavior, Telecanthus, Highly arched eyebrow, Attached earlobe, Hyperactivity, Almond-...	OMIM:619695
Spastic Paraplegia 9B, Autosomal Recessive	Babinski sign, Tetraplegia, Tremor, Spasticity, Spastic paraplegia, Foot dorsiflexor weakness, Ps...	OMIM:616586
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia	OMIM:614307
Congenital Enterovirus Infection	Fever, Hypothermia	ORPHA:292
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign	OMIM:608768
Developmental And Epileptic Encephalopathy 42	Hypertonia, Tremor, Ataxia, Athetosis	OMIM:617106
Obesity, Hyperphagia, And Developmental Delay	Obesity, Polyphagia, Motor stereotypy	OMIM:613886
Peroxisome Biogenesis Disorder 5B	Oculomotor apraxia, Sensorineural hearing impairment, Tremor, Ataxia, Unsteady gait, Dysmetria	OMIM:614867
Foxg1 Syndrome Due To 14Q12 Microdeletion	Palpebral edema, Abnormal antihelix morphology, Downslanted palpebral fissures, Epicanthus, Agene...	ORPHA:261144
Ritscher-Schinzel Syndrome 4	Chorea, Athetosis, Impulsivity, Macrotia, Downslanted palpebral fissures, Ataxia, Dysphagia, Agen...	OMIM:619435
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Hyperactivity, Upper motor neuron dysfunction, Ataxia, Epicanthus, Moto...	ORPHA:530983
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Babinski sign, Hypertonia, Tremor, Gait ataxia, Intention tremor, Ataxia, Muscle weakness, Myoclo...	OMIM:616505
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Incoordination, Low-set ears, Gait ataxia, Epicanthus, Motor stereotypy,...	OMIM:616579
Blepharophimosis-Impaired Intellectual Development Syndrome	Highly arched eyebrow, Low-set ears, Long eyelashes, Sparse eyelashes, Synophrys, Ptosis, Sparse ...	OMIM:619293
Coffin-Siris Syndrome 7	Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma...	OMIM:618027
Combined Oxidative Phosphorylation Deficiency 32	Inability to walk, Spasticity, Tremor, Ptosis, Dystonia, Dysphagia, Choreoathetosis	OMIM:617664
Snijders Blok-Campeau Syndrome	Broad-based gait, Low-set ears, Speech apraxia, Unsteady gait, Motor stereotypy, Epicanthus, Atte...	OMIM:618205
Alternating Hemiplegia Of Childhood	Paroxysmal dyskinesia, Oculomotor apraxia, Chorea, Tremor, Abnormal autonomic nervous system phys...	ORPHA:2131
Genetic Transient Congenital Hypothyroidism	Hypothermia, Umbilical hernia	ORPHA:226316
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec...	ORPHA:206594
Menkes Disease	Hypertonia, Hypothermia, Inguinal hernia, Chorea, Spasticity, Umbilical hernia, Intrauterine grow...	ORPHA:565
Focal Myositis	Fever, Weight loss	ORPHA:48918
Den Hoed-De Boer-Voisin Syndrome	Agitation, Inability to walk, Lower limb spasticity, Spasticity, Tremor, Decreased body weight, S...	OMIM:619229
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign	ORPHA:542310
Aromatic L-Amino Acid Decarboxylase Deficiency	Babinski sign, Oculogyric crisis, Limb hypertonia, Tremor, Ptosis, Failure to thrive, Dystonia, D...	ORPHA:35708
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Medial flaring of the eyebrow, Oromandibular dystonia, Aggressive behavior, Microtia, Tremor, Com...	OMIM:620494
Intellectual Developmental Disorder, Autosomal Dominant 48	Recurrent otitis media, Highly arched eyebrow, Sensorineural hearing impairment, Hyperactivity, L...	OMIM:617751
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia	ORPHA:903
Cystathioninuria	Abnormal pinna morphology, Tremor	ORPHA:212
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Weight loss, Orthost...	ORPHA:330001
Adult-Onset Distal Myopathy Due To Vcp Mutation	Fasciculations, Tremor, Facial diplegia, Frequent falls, Distal muscle weakness, Parkinsonism, Fo...	ORPHA:329478
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Synophrys, Downslanted palpebral fissures, Epic...	ORPHA:3306
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Babinski sign, Hypertonia, Highly arched eyebrow, Spasticity, Macrotia, Failure to thrive, Inappr...	OMIM:615802
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Autosomal Recessive Spastic Paraplegia Type 75	Babinski sign, Spasticity, Titubation, Spastic paraplegia, Abnormal pyramidal sign, Impaired vibr...	ORPHA:459056
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypertonia, Limb hypertonia, Tremor, Athetosis, Dystonia, Thrombocytopenia, Ataxia, Muscle weakne...	OMIM:617710
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Failure to thrive	OMIM:614857
Pfapa Syndrome	Abnormality of temperature regulation, Weight loss	ORPHA:42642
Orthostatic Hypotension 1	Intermittent hypothermia, Orthostatic hypotension	OMIM:223360
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Dopamine Beta-Hydroxylase Deficiency	Hypothermia, Orthostatic hypotension	ORPHA:230
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorder, Failure to...	OMIM:620242
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Macro...	OMIM:300912
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Hypertonia, Tremor, Spasticity, Rigidity	OMIM:176500
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k...	OMIM:619374
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flappin...	ORPHA:98794
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Head-banging, Low-set ears, Frequent temper tantrums, Epiblepharon, S...	OMIM:619103
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Postnatal growth retardation, Torticollis, Oculomotor apraxia, Optic nerve hypoplasia, Spasticity...	ORPHA:300570
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation	OMIM:605735
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Slanting of the palpebral fissure, Congenital ptosis, Tremor, Compulsive behaviors, Gait ataxia, ...	ORPHA:476126
Machado-Joseph Disease Type 3	Babinski sign, Abnormality of temperature regulation, Progressive cerebellar ataxia, Facial-lingu...	ORPHA:276244
Intellectual Developmental Disorder, Autosomal Dominant 38	Hair-pulling, Low-set ears, Downslanted palpebral fissures, Ataxia, Epicanthus, Motor stereotypy,...	OMIM:616393
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hyperactivity, Hearing impairment, Failure to thrive, Downslanted palp...	OMIM:610883
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni...	OMIM:609136
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impaired collagen-rela...	OMIM:153670
Parkinson Disease 8, Autosomal Dominant	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607060
Hijazi-Reis Syndrome	Gait disturbance, Motor stereotypy, Lower limb spasticity, Ankle clonus	OMIM:301094
Perry Syndrome	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism	ORPHA:178509
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Growth delay, Failure to thrive, Hypothermia	OMIM:251880
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy	OMIM:172700
Gabriele-De Vries Syndrome	Tip-toe gait, Telecanthus, Tremor, Low-set ears, Waddling gait, Epiblepharon, Ptosis, Downslanted...	OMIM:617557
Ethylene Glycol Poisoning	Hypothermia, Facial palsy, Ataxia, Myoclonus, Slurred speech	ORPHA:31826
Hypermanganesemia With Dystonia 1	Bradykinesia, Abnormality of extrapyramidal motor function, Poor fine motor coordination, Tremor,...	OMIM:613280
Acute Transverse Myelitis	Babinski sign, Abnormality of temperature regulation, Orthostatic hypotension, Paraplegia, Abnorm...	ORPHA:139417
Hyperthermia, Cutaneous, With Headaches And Nausea	Fever	OMIM:145590
Hypothyroidism Due To Tsh Receptor Mutations	Hypothermia, Umbilical hernia	ORPHA:90673
Congenital Disorder Of Glycosylation, Type Iia	Hypertonia, Sensorineural hearing impairment, Low-set ears, Stereotypical hand wringing, Long eye...	OMIM:212066
Migraine, Familial Hemiplegic, 2	Apraxia, Tremor, Episodic ataxia, Gait ataxia, Fever, Hemiparesis, Hemiplegia, Dysmetria	OMIM:602481
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Postencephalitic Parkinsonism	Bradykinesia, Babinski sign, Oculogyric crisis, Resting tremor, Tremor by anatomical site, Cogwhe...	ORPHA:97349
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor, Impaired distal vibrati...	OMIM:606002
Carnitine-Acylcarnitine Translocase Deficiency	Hypothermia	ORPHA:159
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Hypothermia, Poor fine motor coordination, Growth delay, Failure to thrive, Ataxia...	ORPHA:79282
Galloway-Mowat Syndrome 6	Decreased body weight, Paroxysmal bursts of laughter, Motor stereotypy, Epicanthus	OMIM:618347
Fragile X-Associated Tremor/Ataxia Syndrome	Bradykinesia, Abnormal autonomic nervous system physiology, Intention tremor, Gait ataxia, Rigidi...	ORPHA:93256
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Central Hypoventilation Syndrome, Congenital, 3	Central hypoventilation, Heat intolerance	OMIM:619483
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypertonia, Aggressive behavior, Cerebral palsy, Impulsivity, Lateral ventricle dilatation, Motor...	OMIM:618914
Juvenile Neuronal Ceroid Lipofuscinosis	Poor fine motor coordination, Poor motor coordination, Myoclonic spasms, Loss of ambulation, Park...	ORPHA:79264
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Downslanted palpebral fissures, Motor stereotypy	OMIM:615637
Developmental Delay, Language Impairment, And Ocular Abnormalities	Apraxia, Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention defici...	OMIM:620141
Variant Abeta2M Amyloidosis	Abnormal autonomic nervous system physiology	ORPHA:314652
Late Infantile Neuronal Ceroid Lipofuscinosis	Obsessive-compulsive trait, Inability to walk, Cortical myoclonus, Hyperactivity, Spasticity, Gai...	ORPHA:168491
Neurodegeneration With Brain Iron Accumulation 4	Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Spasticity, ...	OMIM:614298
Hermansky-Pudlak Syndrome 7	Impaired platelet aggregation, Prolonged bleeding time	OMIM:614076
Chédiak-Higashi Syndrome	Increased proportion of CD25+ mast cells, Abnormal platelet function, Tremor, Abnormality of neut...	ORPHA:167
Late-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Failure to thrive, Orthostatic hypotension, Fever	ORPHA:556037
X-Linked Intellectual Disability, Cabezas Type	Abnormal earlobe morphology, Broad-based gait, Hyperactivity, Cachexia, Tremor, Synophrys, Downsl...	ORPHA:85293
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Short statu...	OMIM:614381
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Abnormal autonomic nervous system physiology	OMIM:617903
Bainbridge-Ropers Syndrome	Hypertonia, Inability to walk, Highly arched eyebrow, Low-set ears, Recurrent hand flapping, Syno...	OMIM:615485
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Resting tremor, Shuffling gait, Gait disturbance, Rigidity, Dystonia, Loss of ambul...	OMIM:168601
Ddost-Cdg	Oromotor apraxia, Tremor, Short stature, Failure to thrive, Lipodystrophy	ORPHA:300536
Bernard-Soulier Syndrome	Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce...	ORPHA:274
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria	ORPHA:529665
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Abnormal autonomic nervous system physiology, Optic neuropathy, Myoclonic spasms	ORPHA:478029
Intellectual Developmental Disorder, Autosomal Dominant 52	Obsessive-compulsive trait, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Synoph...	OMIM:617796
Pure Autonomic Failure	Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:441
Tay-Sachs Disease	Hip flexor weakness, Distal upper limb muscle weakness, Ankle clonus, Fasciculations, Incoordinat...	ORPHA:845
Epilepsy, Familial Adult Myoclonic, 2	Enhancement of the C-reflex, Tremor, Blepharospasm, Ataxia, Giant somatosensory evoked potentials...	OMIM:607876
Rett Syndrome, Congenital Variant	Apraxia, Tongue thrusting, Chorea, Spasticity, Athetosis, Dystonia, Motor stereotypy, Protruding ...	OMIM:613454
Progressive Supranuclear Palsy	Bradykinesia, Falls, Tremor, Blepharospasm, Impulsivity, Rigidity, Dystonia, Unsteady gait, Dysph...	ORPHA:683
22Q11.2 Duplication Syndrome	Compulsive behaviors, Hearing impairment, Ptosis, Downslanted palpebral fissures, Epicanthus, Mot...	ORPHA:1727
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Paraplegia, Failure to thrive, Ataxia, Motor stereotypy	ORPHA:927
Proximal 16P11.2 Microdeletion Syndrome	Paroxysmal dyskinesia, Sensorineural hearing impairment, Speech apraxia, Conductive hearing impai...	ORPHA:261197
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Abnormal pyramidal sign	OMIM:618060
Glanzmann Thrombasthenia	Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation	ORPHA:849
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Thrombocytopenia, Prolonged bleeding time, Impaired ADP-induced p...	OMIM:614074
Sneddon Syndrome	Decreased circulating total IgM, Tremor, Facial palsy, Hemiplegia	OMIM:182410
Stuve-Wiedemann Syndrome 1	Abnormality of temperature regulation, Flexion contracture of toe, Elbow flexion contracture, Abn...	OMIM:601559
Phelan-Mcdermid Syndrome	Palpebral edema, Tongue thrusting, Broad-based gait, Impaired pain sensation, Long eyelashes, Hea...	OMIM:606232
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Obsessive-compulsive trait, Akinesia, Abnormality of extrapyramidal ...	OMIM:234200
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:620481
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Bilateral conductive hearing impairment, Low-set ears, Long eyelashes, Dysphag...	OMIM:617802
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Head tremor, Ataxia, Motor stereotypy, Synophrys	OMIM:619428
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Hyperkinetic movements, Athetoid cerebral palsy, Chorea, Almond-shaped palpebral f...	ORPHA:522077
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Small earlobe, Truncal ataxia, Low-set ears, Synophrys, Horizontal eyebrow, Gai...	OMIM:617330
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Hypothermia, Corneal scarring, Abnormality of the autonomic nervous system, Growth del...	ORPHA:642
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida...	OMIM:226990
Developmental And Epileptic Encephalopathy 66	Downslanted palpebral fissures, Broad-based gait, Motor stereotypy, Synophrys	OMIM:618067
Angelman Syndrome	Inability to walk, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flap...	ORPHA:72
Hyperlysinemia	Tip-toe gait, Hypoplastic helices, Neck hypertonia, Hyperactivity, Tremor, Spastic tetraparesis, ...	ORPHA:2203
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Spasticity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Ag...	OMIM:610042
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Oculomotor apraxia, Highly arched eyebrow, Tremor, Gait distur...	ORPHA:220497
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Synophrys, Macrotia, Motor stereotypy, Aggressive behavior	ORPHA:391307
Smith-Magenis Syndrome	Chronic otitis media, Impaired pain sensation, Gait disturbance, Synophrys, Conductive hearing im...	ORPHA:819
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Fasciculations, Tetraplegia, Progressive spasticity, Cataplexy, Spasticity, Macrotia, Sparse eyeb...	ORPHA:496641
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tip-toe gait, Babinski sign, Tremor, Gait disturbance, Spastic paraplegia	ORPHA:83629
Erythermalgia, Primary	Abnormal autonomic nervous system physiology	OMIM:133020
5Q14.3 Microdeletion Syndrome	Upslanted palpebral fissure, Thick eyebrow, Motor stereotypy	ORPHA:228384
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Hypothermia, Optic nerve hypoplasia, Growth delay, Umbilical hernia, Overweight	ORPHA:226307
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Babinski sign, Hypertonia, Proximal muscle weakness in upper limbs, Neck muscle weakness, Distal ...	ORPHA:466768
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Chorea, Head-banging, Lingual dysto...	ORPHA:2388
Spinal Cord Injury	Weakness due to upper motor neuron dysfunction, Spasticity, Abnormal autonomic nervous system phy...	ORPHA:90058
Porphyria Variegata	Scarring, Tetraparesis, Abnormal autonomic nervous system physiology, Respiratory paralysis	ORPHA:79473
Vici Syndrome	Abnormal posturing, Sensorineural hearing impairment, Low-set ears, Ptosis, Failure to thrive, Dy...	OMIM:242840
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Ataxia, Muscle weakness	ORPHA:713
Macrocephaly-Developmental Delay Syndrome	Palpebral edema, Downslanted palpebral fissures, Motor stereotypy, Self-injurious behavior, Narro...	ORPHA:397612
Central Hypoventilation Syndrome, Congenital, 1	Abnormality of temperature regulation, Aganglionic megacolon, Abnormal autonomic nervous system p...	OMIM:209880
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal temper tantrums, Low-set ears, Downslanted palpebral fissures, Ataxia, Unsteady gait, La...	ORPHA:457279
Sandifer Syndrome	Abnormal posturing, Torticollis	ORPHA:71272
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal autonomic nervous system physiology, Failure to thrive, Recurrent fever, Intrauterine gr...	ORPHA:453499
Tbck-Related Intellectual Disability Syndrome	Hypothermia	ORPHA:488632
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Palpebral edema, Hyperactivity, Cerebral palsy, Impulsivity, Head titubation, Ataxia, Bruxism, Ag...	OMIM:619475
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent otitis media, Abnormal earlobe morphology, Highly arched eyebrow, Sensorineural hearing...	ORPHA:500159
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia	OMIM:300835
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Hypothermia, Abnormal autonomic nervous system physiology, Fever, Short stature,...	ORPHA:293987
Joubert Syndrome 35	Abnormality of temperature regulation, Ataxia, Oculomotor apraxia	OMIM:618161
Fabry Disease	Fasciculations, Delayed puberty, Abnormal autonomic nervous system physiology	OMIM:301500
Tick-Borne Encephalitis	Hyperkinetic movements, Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morpho...	ORPHA:297
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Broad eyebrow, Limb hypertonia, Inability to walk, Highly arched eyebrow, Sensorineural hearing i...	ORPHA:457351
Trisomy 20P	Inguinal hernia, Incoordination, Abnormal autonomic nervous system physiology, Camptodactyly of f...	ORPHA:261318
Aceruloplasminemia	Limb ataxia, Akinesia, Torticollis, Chorea, Tremor, Blepharospasm, Craniofacial dystonia, Gait at...	ORPHA:48818
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Spasticity, Gait ataxia, Macrotia, Motor stereotypy, Self-mutilation	OMIM:300486
Unilateral Polymicrogyria	Abnormal posturing, Poor fine motor coordination, Involuntary movements, Hemiparesis, Myoclonus, ...	ORPHA:268943
Von Willebrand Disease, Type 1	Impaired platelet aggregation, Prolonged bleeding time	OMIM:193400
White-Sutton Syndrome	Hyperactivity, Sensorineural hearing impairment, Low-set ears, Bilateral sensorineural hearing im...	OMIM:616364
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Fever, Panniculitis, Weight loss	ORPHA:86884
Chromosome 15Q11.2 Deletion Syndrome	Compulsive behaviors, Attention deficit hyperactivity disorder, Macrotia, Ataxia, Motor stereotyp...	OMIM:615656
Wars2-Related Combined Oxidative Phosphorylation Defect	Difficulty walking, Limb hypertonia, Tremor, Low-set ears, Athetosis, Limb dystonia, Ataxia, Dysp...	ORPHA:572798
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Difficulty walking, Distal sensory impairment, Inability to walk, Sensorineural hea...	ORPHA:99956
Romano-Ward Syndrome	Abnormal autonomic nervous system physiology	ORPHA:101016
Myopathy, Mitochondrial, And Ataxia	Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy...	OMIM:617675
Cockayne Syndrome Type 1	Postnatal growth retardation, Optic atrophy, Abnormality of temperature regulation, Scarring, Low...	ORPHA:90321
Joubert Syndrome With Ocular Defect	Low-set, posteriorly rotated ears, Oculomotor apraxia, Highly arched eyebrow, Tremor, Gait distur...	ORPHA:220493
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Chronic otitis media, Gait imbalance, Oral-pharyngeal dysphagia, Spasticity, Tremor, Low-set ears...	OMIM:300966
3P25.3 Microdeletion Syndrome	Sensorineural hearing impairment, Downslanted palpebral fissures, Ataxia, Epicanthus, Motor stere...	ORPHA:435638
Hypothyroidism, Congenital, Nongoitrous, 2	Growth delay, Hypothermia, Umbilical hernia	OMIM:218700
Megalocornea-Intellectual Disability Syndrome	Sensorineural hearing impairment, Downslanted palpebral fissures, Ataxia, Epicanthus, Motor stere...	ORPHA:2479
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor...	ORPHA:199351
Serotonin Syndrome	Hypertonia, Tremor, Clonus, Fever, Abnormality of the autonomic nervous system, Rigidity, Myoclonus	ORPHA:43116
Al Amyloidosis	Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto...	ORPHA:85443
Fructose-1,6-Bisphosphatase Deficiency	Fever, Hyperventilation	OMIM:229700
Pseudohypoparathyroidism Type 1A	Abnormal platelet function, Laryngeal dystonia, Involuntary movements, Myoclonic spasms, Choreoat...	ORPHA:79443
Short Stature, Developmental Delay, And Congenital Heart Defects	Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st...	OMIM:617044
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Bilateral ptosis, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Compulsive behav...	OMIM:619512
Periodic Fever, Menstrual Cycle-Dependent	Fever	OMIM:614674
Autism, Susceptibility To, 3	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608049
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology	ORPHA:85451
Ramos-Arroyo Syndrome	Aganglionic megacolon, Severe failure to thrive, Decreased body weight, Abnormal autonomic nervou...	ORPHA:1051
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Palpebral edema, Broad-based gait, Hyperactivity, Poor gross motor coordination, Low-set ears, Lo...	OMIM:614756
X-Linked Intellectual Disability, Cantagrel Type	Tetraparesis, Motor stereotypy	ORPHA:85277
Cystinosis	Polydipsia, Gait disturbance, Failure to thrive, Motor stereotypy, Abnormal pyramidal sign	ORPHA:213
Kleefstra Syndrome 1	Abnormal pinna morphology, Compulsive behaviors, Synophrys, Hearing impairment, Obesity, Motor st...	OMIM:610253
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hypertonia, Hair-pulling, Lower limb spasticity, Hyperactivity, Low-set ears, Myoclonic spasms, S...	ORPHA:447997
Autoerythrocyte Sensitization Syndrome	Autoimmune thrombocytopenia, Thrombocytosis, Impaired platelet adhesion	ORPHA:324636
Occipital Horn Syndrome	Scarring, Hypothermia, Inguinal hernia, Femoral hernia, Atypical scarring of skin, Keloids, Hiatu...	ORPHA:198
Autosomal Dominant Spastic Paraplegia Type 9A	Spastic gait, Babinski sign, Spastic dysarthria, Falls, Abnormality of pain sensation, Sensorineu...	ORPHA:447753
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Macroti...	ORPHA:449291
Joubert Syndrome	Oculomotor apraxia, Highly arched eyebrow, Tremor, Low-set ears, Gait disturbance, Ptosis, Ataxia	ORPHA:475
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Paroxysmal dystonia, Motor stereotypy, Involuntary move...	ORPHA:98784
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypothermia, Exaggerated startle response, Involuntary movements, Short stature, Uterine prolapse...	ORPHA:438213
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Tremor, Opisthotonus	OMIM:250800
Wolfram Syndrome 1	Sensorineural hearing impairment, Tremor, Hearing impairment, Ptosis, Ataxia, Dysphagia	OMIM:222300
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Short palpebral fissure, Telecanthus, Agenesis of corpus callosum, Motor stereotypy, Attention de...	OMIM:620073
Wiedemann-Steiner Syndrome	Short palpebral fissure, Telecanthus, Hyperactivity, Low-set ears, Synophrys, Long eyelashes, Pto...	ORPHA:319182
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy	OMIM:618504
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Spasticity, Dysphagia, Motor stereotypy, Involuntary movements	ORPHA:572013
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Stüve-Wiedemann Syndrome	Elbow flexion contracture, Abnormal autonomic nervous system physiology, Short stature, Camptodac...	ORPHA:3206
Kleefstra Syndrome	Chronic otitis media, Highly arched eyebrow, Upslanted palpebral fissure, Synophrys, Hearing impa...	ORPHA:261494
7Q11.23 Microduplication Syndrome	Chronic otitis media, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hyperactivi...	ORPHA:96121
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto...	ORPHA:3226
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Oculomotor apraxia, Hyperactivity, Spasticity, Tremor, Frequent falls, Dystoni...	OMIM:612716
Developmental And Speech Delay Due To Sox5 Deficiency	Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy, Aggressive b...	ORPHA:313892
Supranuclear Palsy, Progressive, 1	Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Retrocollis, Falls, Tremor, Limb dystonia...	OMIM:601104
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent otitis media, Head-banging, Sensorineural hearing impairment, Low-set ears, Frequent te...	OMIM:619575
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Tremor, Low-set ears, Intention tremor, Failure to thrive, Neonatal death, Ataxia, Small for gest...	OMIM:614052
Oculopharyngodistal Myopathy 1	External ophthalmoplegia, Tremor, Facial palsy, Distal muscle weakness, Respiratory insufficiency...	OMIM:164310
2Q37 Microdeletion Syndrome	Highly arched eyebrow, Compulsive behaviors, Conductive hearing impairment, Sparse eyebrow, Obesi...	ORPHA:1001
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor, Weight loss	OMIM:613239
Houge-Janssens Syndrome 3	Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy, Epicanthus	OMIM:618354
Pitt-Hopkins Syndrome	Incoordination, Upslanted palpebral fissure, Gait ataxia, Motor stereotypy, Self-injurious behavi...	OMIM:610954
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Babinski sign, Sensorineural hearing impairment, Spasticity, Tremor, Spastic paraplegia, Ataxia, ...	OMIM:618527
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hyperkinetic movements, Chorea, Truncal ataxia, Tremor, Athetosis, Gowers sign, Speech apraxia, D...	OMIM:615356
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Thrombocytopenia, Abnormal platelet function, Abnormal platelet morphology	ORPHA:906
Hermansky-Pudlak Syndrome 11	Impaired collagen-induced platelet aggregation, Reduced platelet dense granules	OMIM:619172
Malignant Hyperthermia, Susceptibility To, 5	Fever, Malignant hyperthermia	OMIM:601887
Helsmoortel-Van Der Aa Syndrome	Bilateral ptosis, Hyperactivity, Ectropion of lower eyelids, Dysphagia, Lateral ventricle dilatat...	OMIM:615873
Joubert Syndrome 8	Obesity, Hyperventilation	OMIM:612291
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Facial palsy, Generalized muscle weakness, Clonus	OMIM:619424
Metachromatic Leukodystrophy	Tip-toe gait, Addictive behavior, Incoordination, Decerebrate rigidity, Tremor, Progressive spast...	ORPHA:512
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism	ORPHA:1578
Mitochondrial Complex I Deficiency, Nuclear Type 9	Hypoventilation	OMIM:618232
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Large for gestational age, Spasticity, Tremor, Low-set ears, Posteriorly rotated ears, Large fles...	OMIM:614080
Noonan Syndrome	Abnormal platelet function, Muscle weakness	ORPHA:648
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Telecanthus, Nail-biting, Broad-based gait, Polyphagia, Long palpebral fissure, Fix...	OMIM:620330
Joubert Syndrome 17	Hyperventilation	OMIM:614615
Joubert Syndrome 6	Ataxia, Motor stereotypy, Oculomotor apraxia	OMIM:610688
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypertonia, Hyperkinetic movements, Severe failure to thrive, Abnormality of the orbital region, ...	ORPHA:468631
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Intention tremor, C...	OMIM:208900
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620502
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Sarcoidosis	Scarring, Hypothermia, Facial palsy, Fever, Weight loss	ORPHA:797
Wolfram Syndrome	Delayed puberty, Optic atrophy, Ataxia, Abnormal autonomic nervous system physiology	ORPHA:3463
Hermansky-Pudlak Syndrome 6	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu...	OMIM:614075
Hydroxykynureninuria	Hypertonia, Congenital sensorineural hearing impairment, Motor stereotypy	ORPHA:79155
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Enla...	OMIM:608233
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Short palpebral fissure, Small for gestational age, Hyperactivity, Low-set ears, Hearing impairme...	OMIM:309590
Niemann-Pick Disease Type C	Chorea, Limb dystonia, Ataxia, Dysphagia, Myoclonus, Clumsiness, Aggressive behavior, Axial dysto...	ORPHA:646
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short palpebral fissure, Highly arched eyebrow, Impaired pain sensation, Decreased body weight, L...	OMIM:619005
Arboleda-Tham Syndrome	Chronic otitis media, Highly arched eyebrow, Small earlobe, Underdeveloped tragus, Lower limb hyp...	OMIM:616268
Marburg Hemorrhagic Fever	Fever, Hypothermia	ORPHA:99826
Niemann-Pick Disease, Type C2	Spasticity, Cataplexy, Dystonia, Ataxia, Dysphagia, Motor stereotypy	OMIM:607625
Sitosterolemia 1	Impaired platelet aggregation, Thrombocytopenia, Giant platelets	OMIM:210250
Kinsship Syndrome	Short palpebral fissure, Spastic tetraparesis, Low-set ears, Synophrys, Long palpebral fissure, F...	OMIM:619297
Beta-Thalassemia	Abnormality of temperature regulation	ORPHA:848
Van Esch-O'Driscoll Syndrome	Short palpebral fissure, Microtia, Spasticity, Impulsivity, Shallow orbits, Attention deficit hyp...	OMIM:301030
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Difficulty walking, Highly arched eyebrow, Low-set ears, Obesity, Epicanthus, Motor stereotypy, N...	OMIM:618653
Encephalitis Lethargica	Fever, Hyperventilation	ORPHA:83600
Postpoliomyelitis Syndrome	Hypoventilation	ORPHA:2942
Gabriele-De Vries Syndrome	Telecanthus, Oral-pharyngeal dysphagia, Tremor, Low-set ears, Waddling gait, Ptosis, Downslanted ...	ORPHA:506358
Transketolase Deficiency	Compulsive behaviors, Hearing impairment, Motor stereotypy, Conjunctivitis, Attention deficit hyp...	ORPHA:488618
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation	OMIM:618372
White-Sutton Syndrome	Hyperactivity, Sensorineural hearing impairment, Incoordination, Compulsive behaviors, Obesity, P...	ORPHA:468678
Developmental And Epileptic Encephalopathy 100	Short palpebral fissure, Chorea, Gait ataxia, Synophrys, Dysphagia, Motor stereotypy, Myoclonus, ...	OMIM:619777
Rett Syndrome	Cachexia, Intermittent hyperventilation	OMIM:312750
Triosephosphate Isomerase Deficiency	Progressive muscle weakness, Spasticity, Tremor, Respiratory insufficiency due to muscle weakness...	OMIM:615512
Pitt-Hopkins-Like Syndrome 2	Hyperventilation	OMIM:614325
Lambert-Eaton Myasthenic Syndrome	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction	ORPHA:43393
Mgat2-Cdg	Impaired platelet aggregation, Decreased circulating IgG level, Decreased circulating antibody level	ORPHA:79329
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Abnormality of temperature regulation	OMIM:619173
Developmental And Epileptic Encephalopathy 2	Inability to walk, Motor stereotypy, Myoclonus	OMIM:300672
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Recurrent otitis media, Synophrys, Ptosis, Downslanted palpebral fissures, Obesity, Posteriorly r...	OMIM:301066
Hermansky-Pudlak Syndrome 8	Impaired platelet aggregation	OMIM:614077
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Head-banging, Compulsive behaviors, Almond-shaped palpebral fissure, Sk...	ORPHA:177907
Coffin-Siris Syndrome 12	Protruding ear, Highly arched eyebrow, Sensorineural hearing impairment, Low-set ears, Long eyela...	OMIM:619325
3-Methylglutaconic Aciduria, Type Viii	Hypertonia, Sensorineural hearing impairment, Tremor, Clonus, Failure to thrive, Neonatal death, ...	OMIM:617248
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Sensorineural hearing impairment, Microtia, Spasticity, Low-set ears, Posteriorly rotated ears, E...	OMIM:301040
Childhood Absence Epilepsy	Hyperventilation	ORPHA:64280
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Recurrent otitis media, Abnormal Eustachian tube morphology, Broad-based gait, Gait ataxia, Spars...	ORPHA:513456
Thyrotoxic Periodic Paralysis	Respiratory paralysis, Late-onset proximal muscle weakness, Tetraplegia, Tremor, Episodic flaccid...	ORPHA:79102
Childhood Disintegrative Disorder	Motor stereotypy	ORPHA:168782
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Neutrophilia, Brain abscess	ORPHA:54251
Rabin-Pappas Syndrome	Hypoventilation, Failure to thrive in infancy, Obesity	OMIM:620155
Cholera	Fever, Hyperventilation	ORPHA:173
Ulnar-Mammary Syndrome	Delayed puberty, Abnormality of temperature regulation, Short stature, Hernia of the abdominal wa...	ORPHA:3138
Adult-Onset Still Disease	Myocarditis, Anemia, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly	ORPHA:829
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation	OMIM:617143
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Polyphagia, Gait d...	ORPHA:1606
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia	ORPHA:293173
Cntnap2-Related Developmental And Epileptic Encephalopathy	Intermittent hyperventilation, Obesity	ORPHA:163681
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Short palpebral fissure, Long lower eyelashes, Truncal obesity, Highly arched eyebrow, Sensorineu...	OMIM:612474
Sweet Syndrome	Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro...	ORPHA:3243
Holocarboxylase Synthetase Deficiency	Hyperventilation	OMIM:253270
Intellectual Developmental Disorder, Autosomal Dominant 57	Failure to thrive, Hyperventilation	OMIM:618050
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Gait disturbance, Macrotia, Failure to thrive, Motor stereotypy, Protruding ear, S...	ORPHA:464306
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoventilation	OMIM:620275
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Gait disturbance, Attention deficit hyperactivity disorder, Failure to thrive, Motor stereotypy, ...	ORPHA:464311
Chronic Mucocutaneous Candidiasis	Abnormal dental enamel morphology, Abnormality of temperature regulation	ORPHA:1334
Prader-Willi Syndrome	Hypoventilation, Temperature instability, Obesity, Class III obesity, Abdominal obesity, Failure ...	OMIM:176270
Muscular Dystrophy, Duchenne Type	Hypoventilation	OMIM:310200
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Intermittent hyperventilation, Decreased body weight	OMIM:300749
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Hypertonia, Highly arched eyebrow, Spastic tetraparesis, Synophrys, Downslanted palpebral fissure...	OMIM:301044
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Hyperventilation	OMIM:617799
Ogden Syndrome	Bilateral ptosis, Hypertonia, Recurrent otitis media, Torticollis, Abnormal eyelid morphology, Lo...	OMIM:300855
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypertonia, Opisthotonus, Inability to walk, Motor stereotypy	ORPHA:508533
Congenital Disorder Of Glycosylation, Type Iib	Hypoventilation	OMIM:606056
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation	ORPHA:314655
Primrose Syndrome	Superiorly displaced ears, Calcification of the auricular cartilage, Tics, Synophrys, Hearing imp...	OMIM:259050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Trichiasis, Abnormal lateral ventricle morphology, Aggressive behavior, Abnormal fear-induced beh...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Trichiasis, Abnormal lateral ventricle morphology, Aggressive behavior, Abnormal fear-induced beh...	ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Telecanthus, Small earlobe, Microtia, Low-set ears, Exaggerated startle response, Downslanted pal...	OMIM:619522
Pitt-Hopkins Syndrome	Failure to thrive, Hyperventilation	ORPHA:2896
Bethlem Muscular Dystrophy	Hypoventilation	ORPHA:610
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Aspiration, Decreased body weight	ORPHA:258
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni...	OMIM:620565
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Fructose-1,6-Bisphosphatase Deficiency	Intermittent hyperventilation	ORPHA:348
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Inguinal hernia, Genital hernia, Abnormal autonomic nervous ...	ORPHA:285
Biotinidase Deficiency	Hyperventilation	ORPHA:79241
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short palpebral fissure, Almond-shaped palpebral fissure, Hearing impairment, Unilateral ptosis, ...	ORPHA:508498
Leprosy	Abnormal seventh cranial physiology, Abnormal autonomic nervous system physiology	ORPHA:548
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Abnormality of temperature regulation, Tremor, Optic nerve compression	ORPHA:667
Bartter Syndrome, Type 2, Antenatal	Impaired platelet aggregation, Generalized muscle weakness	OMIM:241200
Norrie Disease	Hypertonia, Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morphol...	ORPHA:649
Cocaine Intoxication	Fever, Tremor, Hyperventilation	ORPHA:90068
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Low-set, posteriorly rotated ears, Compulsive behaviors, Clonus, Attention ...	ORPHA:534
Deeah Syndrome	Intrauterine growth retardation, Abnormality of temperature regulation, Decreased body weight, Sh...	OMIM:619004
Synaptic Congenital Myasthenic Syndromes	Hypoventilation	ORPHA:98915
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Leukocytosis, Splenomegaly	OMIM:249100
Charcot-Marie-Tooth Disease Type 4C	Hypoventilation, Failure to thrive	ORPHA:99949
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, Sensorineural hearing impairment, Abnormal pinna morphology, Conductive he...	OMIM:194190
Proximal Spinal Muscular Atrophy	Hypoventilation	ORPHA:70
Mogs-Cdg	Hypoventilation	ORPHA:79330
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Temperature instability	OMIM:619482
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Compulsive behav...	ORPHA:353281
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of temperature regulation, Aganglionic megacolon, Inguinal hernia, Abnormal dental en...	ORPHA:2273
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Hyperactivity, Sensorineural hearing impairment, Otosclerosis, Impulsiv...	ORPHA:580
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Recurrent otitis media, Broad eyebrow, Telecanthus, Broad-based gait, Inability to walk, Sensorin...	ORPHA:261537
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypoventilation, Failure to thrive	OMIM:203700
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Recurrent otitis media, Broad eyebrow, Telecanthus, Broad-based gait, Highly arched eyebrow, Sens...	ORPHA:261552
Mowat-Wilson Syndrome	Recurrent otitis media, Broad eyebrow, Telecanthus, Broad-based gait, Inability to walk, Sensorin...	ORPHA:2152
Acute Liver Failure	Fever, Hyperventilation	ORPHA:90062
Leukocyte Adhesion Deficiency	Impaired platelet aggregation, Abnormality of neutrophil physiology, Bone marrow hypocellularity,...	ORPHA:2968
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Motor stereotypy	OMIM:616682
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Hypoventilation, Failure to thrive	OMIM:620455
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Motor stereotypy, Aggressive behavior	OMIM:309000
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation	ORPHA:731
Pallister-Killian Syndrome	Obesity, Hyperventilation	OMIM:601803

Histopathology

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

There is no histopathology data for Ache

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

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

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

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MGI Allele	Allele Type	Produced
Ache^em1(IMPC)Mbp	Intra-exon deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ache MGI:87876

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E18.5

Gross Morphology Embryo E18.5

Human diseases caused by Ache mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data