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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
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
abnormal heart morphology	Ache^em1(IMPC)Mbp	HET	Early adult	0.00
hemorrhage	Ache^em1(IMPC)Mbp	HOM	E18.5	0.00
preweaning lethality, incomplete penetrance	Ache^em1(IMPC)Mbp	HOM	Early adult	0.00
no spontaneous movement	Ache^em1(IMPC)Mbp	HET	E18.5	0.00
no spontaneous movement	Ache^em1(IMPC)Mbp	HOM	E18.5	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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X-ray

XRay Images Whole Body Dorso Ventral

120 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 (887 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, Gait ataxia, Muscle weakness, Slurred speech	ORPHA:401953
Episodic Ataxia, Type 7	Muscle weakness, Episodic ataxia	OMIM:611907
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Episodic Ataxia, Type 8	Episodic ataxia, Ataxia, Intention tremor, Muscle weakness, Slurred speech	OMIM:616055
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand 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, Slurred speech, Tremor, Ataxia	OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity	OMIM:619491
Spastic Paraplegia 42, Autosomal Dominant	Spastic gait, Spastic paraplegia, Muscle weakness, Babinski sign	OMIM:612539
Athrombia, Essential	Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation	OMIM:209050
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Distal muscle weakness, Tremor, Proximal muscle weakness	OMIM:182980
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Dystonia 31	Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Craniof...	OMIM:619565
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Tremor, Babinski sign, Ataxia, Muscle weakness	OMIM:611105
Glanzmann Thrombasthenia 2	Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet...	OMIM:619267
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Sandhoff Disease, Adult Form	Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ...	ORPHA:309169
Autosomal Recessive Spastic Paraplegia Type 71	Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait	ORPHA:401840
Spinocerebellar Ataxia Type 38	Distal muscle weakness, Gait ataxia, Tremor	ORPHA:423296
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Tremor, Hereditary Essential, 6	Kinetic tremor, Postural tremor, Head tremor, Vocal tremor	OMIM:618866
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor	OMIM:611092
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Distal muscle weakness, Vocal cord paralysis, Tremor	OMIM:158580
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal muscle weakness, Tremor	OMIM:614369
Episodic Kinesigenic Dyskinesia 2	Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea	OMIM:611031
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia, Distal muscle weakness	OMIM:615957
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair...	OMIM:187950
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Parkinsonism-Dystonia 2, Infantile-Onset	Temperature instability, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autono...	OMIM:618049
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Facial Onset Sensory And Motor Neuronopathy	Muscle weakness, Fasciculations	ORPHA:85162
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Inappropriate laughter, Tremor, Self-mutilation, Aggressive behavior, Narrow p...	OMIM:616269
Monomelic Amyotrophy	Tremor, Muscle weakness, Fasciculations	ORPHA:65684
Paroxysmal Non-Kinesigenic Dyskinesia	Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Generalized muscle weakness, Tor...	ORPHA:98810
Tremor, Hereditary Essential, 2	Upper limb postural tremor, Kinetic tremor	OMIM:602134
Glanzmann Thrombasthenia 1	Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet...	OMIM:273800
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata...	ORPHA:251282
Caribbean Parkinsonism	Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ata...	ORPHA:97355
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Lower limb muscle weakness, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski ...	OMIM:607317
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Episodic Kinesigenic Dyskinesia 3	Dystonia, Involuntary movements, Choreoathetosis, Torticollis	OMIM:620245
Spinocerebellar Ataxia Type 35	Pseudobulbar paralysis, Neck muscle weakness, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign,...	ORPHA:276193
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	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	Limb muscle weakness, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Spinal Muscular Atrophy, Jokela Type	Tremor, Muscle weakness, Fasciculations	OMIM:615048
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Inguinal hernia, Hypothermia, Rigidity, Babinski sign, Clonus, Limb hypertonia, My...	OMIM:614498
Spinocerebellar Ataxia 37	Tremor, Dysphagia, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Spinocerebellar Ataxia 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In...	OMIM:616053
Familial Cold Autoinflammatory Syndrome 4	Fever	OMIM:616115
N-Acetylaspartate Deficiency	Broad-based gait, Self-mutilation, Decreased body weight, Truncal ataxia, Unsteady gait, Motor st...	OMIM:614063
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Anhidrosis, Isolated, With Normal Sweat Glands	Heat intolerance	OMIM:106190
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia	OMIM:617018
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Tremor	ORPHA:217012
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Fever	ORPHA:183713
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors	External ophthalmoplegia, Fatigable weakness, Proximal muscle weakness	OMIM:254190
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Poor coordination, Falls, Bruxism, Chorea, Inappropriate laughter, Motor stereotypy, Aggressive b...	OMIM:619150
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl...	ORPHA:314632
Developmental And Epileptic Encephalopathy 78	Spasticity, Chorea, Hypothermia, Cerebral palsy	OMIM:618557
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Limb muscle weakness, Muscle weakness, Fasciculations	OMIM:619141
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Oculopharyngeal Myopathy With Leukoencephalopathy 1	External ophthalmoplegia, Tremor, Proximal muscle weakness, Ataxia, Distal muscle weakness	OMIM:618637
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Multiple System Atrophy	Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi...	ORPHA:102
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Muscular Dystrophy, Congenital, With Rapid Progression	Muscle weakness	OMIM:254100
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Poor head control, Dystonia, Myoclonus, Tremor	OMIM:619651
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Neck muscle weakness, Chorea, Myoclonus, Generalized muscl...	OMIM:606703
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Frequent falls, Hemiballismus, Tremor	ORPHA:494526
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Myoclonus, Growth delay, Hypothermia, Abnormal autonomic nervous system physiology	ORPHA:168593
Chromosome 3Q29 Deletion Syndrome	Low-set ears, Failure to thrive, Gait ataxia, Motor stereotypy, Aggressive behavior, Hyperactivit...	OMIM:609425
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Barth Syndrome	Abnormality of neutrophils, Endocardial fibroelastosis, Dilated cardiomyopathy	ORPHA:111
Dystonia 24	Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia	OMIM:615034
Spinal Muscular Atrophy, Type Ii	Tongue fasciculations, Hand tremor, Muscle weakness	OMIM:253550
Spinocerebellar Ataxia Type 28	Ophthalmoparesis, Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dys...	ORPHA:101109
Migraine, Familial Hemiplegic, 1	Fever, Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster...	OMIM:608636
Spinocerebellar Ataxia, Autosomal Recessive 16	External ophthalmoplegia, Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal a...	OMIM:615768
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi...	ORPHA:98933
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Abnormal posturing, Generalized dystonia, Tip-toe gait, Inability to walk, Opisthoton...	ORPHA:216866
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Violent behavior, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigi...	ORPHA:216873
Fraxe Intellectual Disability	Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Clumsiness, ...	ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis, Spastic di...	OMIM:617270
Macrophagic Myofasciitis	Arthralgia, Myalgia, Fatigue, Generalized muscle weakness	ORPHA:592
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Abnormal autono...	ORPHA:329284
Huntington Disease-Like 1	Involuntary movements, Abnormal posturing, Incoordination, Chorea, Gait ataxia, Simultanapraxia, ...	ORPHA:157941
Dystonia 23	Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Torticollis, Writer's cramp	OMIM:614860
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T...	ORPHA:99657
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Spinocerebellar Ataxia 35	Pseudobulbar paralysis, Incoordination, Neck muscle weakness, Dysmetria, Babinski sign, Torticoll...	OMIM:613908
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Lower limb muscle weakness, Tremor, Babinski sign, Lower limb spasticity, Clo...	OMIM:600363
Bleeding Disorder, Platelet-Type, 18	Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ...	OMIM:615888
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Abnormal posturing, Generalized dystonia, Inability to walk, Tremor, Babinski sign...	OMIM:128100
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Hand tremor, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy	OMIM:617862
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Spontaneous Periodic Hypothermia	Hypothermia, Tremor, Ataxia	ORPHA:29822
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Temperature instability, Tetraparesis, Autonomic bladder dysfunction, Action tremor, ...	ORPHA:99027
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Involuntary movements, Spasticity, Inability to walk, Dystonia, Motor st...	OMIM:617820
Spinocerebellar Ataxia Type 37	Falls, Somatic sensory dysfunction, Limb dysmetria, Myoclonus, Tremor, Sensorineural hearing impa...	ORPHA:363710
Combined Oxidative Phosphorylation Deficiency 45	Low-set ears, Failure to thrive, Tremor, Epicanthus, Ataxia	OMIM:618951
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Multiple System Atrophy, Cerebellar Type	Resting tremor, Autonomic bladder dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Axial d...	ORPHA:227510
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hearing impairment, Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia	OMIM:620270
Baker-Gordon Syndrome	Self-injurious behavior, Involuntary movements, Inability to walk, Hyperkinetic movements, Epican...	OMIM:618218
Developmental And Epileptic Encephalopathy 97	Poor head control, Tremor	OMIM:619561
Bleeding Disorder, Platelet-Type, 11	Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu...	OMIM:614201
Mohr-Tranebjaerg Syndrome	Spasticity, Abnormal posturing, Progressive sensorineural hearing impairment, Tremor, Postlingual...	OMIM:304700
Spinal Muscular Atrophy, Type Iii	Tongue fasciculations, Lower limb muscle weakness, Shoulder girdle muscle weakness, Hand tremor, ...	OMIM:253400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo...	OMIM:614009
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Limb muscle weakness, Foot dorsiflexor weakness, Dysmetria, Gait ataxia, Tremor, Ataxia, Distal m...	OMIM:618387
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Spastic paraplegia, Spasticity, Decreased motor nerve conduction velocity, Progressive spastic pa...	ORPHA:139578
Coenzyme Q10 Deficiency, Primary, 5	Dystonia, Intrauterine growth retardation, Hypothermia, Hypertonia	OMIM:614654
Dystonia 16	Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia	ORPHA:210571
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or...	ORPHA:420485
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor, Generalized muscle weakness	OMIM:609153
Pulmonary Blastoma	Weight loss, Fever	ORPHA:64741
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Inflexible adherence to routines, Downslanted palpebral fissures, Failur...	OMIM:613670
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy	OMIM:619470
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Fever	ORPHA:319600
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Spasticity, Broad-based gait, Difficulty walking, Inability to walk, Lim...	OMIM:617695
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia	OMIM:605909
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Epicanthus, Aggressive behavior, ...	OMIM:309548
Stxbp1-Related Encephalopathy	Spasticity, Inability to walk, Tremor, Dysplastic corpus callosum, Hyperactivity, Ataxia, Dystoni...	ORPHA:599373
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Macrothr...	OMIM:187800
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608631
Spinocerebellar Ataxia 23	Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Agenesis of...	OMIM:610245
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Aggressive behavior, Ataxia, Truncal ataxia	OMIM:276880
Parkinson-Dementia Syndrome	Ophthalmoparesis, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:260540
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Involuntary movements, Motor stereotypy, Agitation	OMIM:617171
Spinocerebellar Ataxia 12	Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress...	OMIM:604326
Primary Erythromelalgia	Hypothermia	ORPHA:90026
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Motor stereotypy	OMIM:606053
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Large fleshy ears, Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Upsl...	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	Low-set ears, Self-injurious behavior, Spasticity, Inability to walk, Bruxism, Tremor, Paroxysmal...	OMIM:618718
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tongue fascicul...	ORPHA:276435
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300425
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal mot...	OMIM:610743
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Abnormal posturing, Bradykinesia, Progressive extrapyramidal muscular rigidity, H...	ORPHA:225147
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida...	ORPHA:98762
Dystonia 7, Torsion	Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu...	OMIM:602124
Spinocerebellar Ataxia, X-Linked 1	Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Dysphagia, In...	OMIM:302500
Foxg1 Syndrome	Spasticity, Difficulty walking, Bruxism, Inability to walk, Myoclonus, Decreased body weight, Age...	ORPHA:561854
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Epilepsy, Familial Adult Myoclonic, 4	Myoclonus, Tremor	OMIM:615127
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Lopes-Maciel-Rodan Syndrome	Spasticity, Bradykinesia, Bruxism, Tremor, Ankle clonus, Motor stereotypy, Abnormal pyramidal sig...	OMIM:617435
Ataxia-Pancytopenia Syndrome	Decreased circulating antibody level, Abnormal platelet function, Ataxia	ORPHA:2585
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Myoclonus, Tremor, Proximal muscle weakness, Respiratory insufficiency due...	OMIM:159950
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia	OMIM:618709
X-Linked Non Progressive Cerebellar Ataxia	Action tremor, Clumsiness, Truncal ataxia, Nonprogressive cerebellar ataxia, Spastic dysarthria, ...	ORPHA:314978
Hyperphenylalaninemia, Bh4-Deficient, C	Recurrent fever, Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia, Dysphagia	OMIM:128235
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	OMIM:615924
O'Sullivan-Mcleod Syndrome	Upper limb muscle weakness, Cold paresis, Fasciculations, Tremor, Increased circulating antibody ...	ORPHA:99965
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Myoclonus, Rigidity, Disinhibition, Babinski sign, Aggressive behavior, G...	OMIM:600795
Autism	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:607373
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston...	OMIM:617284
Riboflavin Transporter Deficiency	Abnormal cranial nerve morphology, Myoclonus, Tremor, Cachexia, Abnormal autonomic nervous system...	ORPHA:97229
Malignant Hyperthermia, Susceptibility To, 4	Malignant hyperthermia	OMIM:600467
Fatal Familial Insomnia	Fever, Myoclonus, Weight loss, Abnormal autonomic nervous system physiology, Ataxia	OMIM:600072
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Bulbar palsy, Limb muscle weakness, Tremor, Fasciculations	OMIM:313200
Tetanus	Fever, Autonomic bladder dysfunction, Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal mu...	ORPHA:3299
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Cachexia, Parkinsonism, Ataxia, Dystonia, ...	OMIM:618093
Riboflavin Deficiency	Hypothermia	OMIM:615026
Atypical Rett Syndrome	Restrictive behavior, Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensa...	ORPHA:3095
Platelet Disorder, Undefined	Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Spasticity, Limb muscle weakness, Foot dorsiflexor weakness, Tremor, Babinski sign, Hypertonia, D...	OMIM:609260
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:620482
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Episodic abdominal pain, Decrease...	ORPHA:137686
Developmental And Epileptic Encephalopathy 58	Inability to walk, Motor stereotypy, Spastic diplegia	OMIM:617830
Intellectual Developmental Disorder, X-Linked 104	Spasticity, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Abnormal pinna morphology	OMIM:300983
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Tremor	OMIM:615400
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman...	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	Low-set ears, Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor...	ORPHA:477673
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Amyotrophic Lateral Sclerosis 18	Spasticity, Muscle weakness, Fasciculations	OMIM:614808
Congenital Disorder Of Glycosylation, Type Iibb	Low-set ears, Spasticity, Failure to thrive, Tetraparesis, Antalgic gait, Tremor, Aggressive beha...	OMIM:620546
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Distal sens...	OMIM:617225
Amyotrophy, Monomelic	Upper limb muscle weakness, Cold paresis, Fasciculations	OMIM:602440
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Pontiac Fever	Fever	ORPHA:99748
Intellectual Developmental Disorder, Autosomal Dominant 7	Small for gestational age, Failure to thrive in infancy, Incoordination, Inappropriate laughter, ...	OMIM:614104
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Spasticity, Inability to walk, Chorea, Gait ataxia, Stereotypical hand w...	OMIM:618917
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, High-frequency sensorineural hearing impairment, Difficulty walking, Inability to...	ORPHA:2590
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Myoclonus, Tremor, Proximal muscle weakness, Abnormal pyramidal sign, Dystonia, Progressive cereb...	ORPHA:139485
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia	OMIM:610006
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Highly arched eyebrow, Spasticity, Short palpebral fissure, Cerebral palsy, Bilater...	ORPHA:352490
Mitchell Syndrome	Clumsiness, Abnormal autonomic nervous system physiology	OMIM:618960
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Oppositional defiant disorder, Tremor, Dysmetria, Impaired tandem gait, Lower limb spa...	OMIM:619028
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem...	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 movement disorder, Involuntary movements, Resting tremor, Progressive ...	ORPHA:401768
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia	OMIM:239500
Idiopathic Congenital Hypothyroidism	Hypothermia, Umbilical hernia	ORPHA:95717
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Bradykinesia, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Attention defic...	OMIM:619725
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Temperature instability, Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hype...	ORPHA:70594
X-Linked Charcot-Marie-Tooth Disease Type 4	Distal muscle weakness, Tremor, Ataxia	ORPHA:101078
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia...	ORPHA:282166
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Muscle weakness	OMIM:159050
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Bradyk...	OMIM:213600
Progressive Nodular Histiocytosis	Cachexia, Fever	ORPHA:158022
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Temperature instability, Oculogyric crisis, Intermittent hypothermia, Limb dystoni...	OMIM:608643
Cyanide-Induced Parkinsonism-Dystonia	Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad...	ORPHA:306692
Menkes Disease	Intrauterine growth retardation, Hypothermia, Babinski sign, Hypertonia, Short stature	OMIM:309400
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Spasticity, Autonomic bladder dysfunction, Postural tremor, Upper motor neuron dys...	ORPHA:447896
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Bruxism, Chore...	OMIM:618004
Spinocerebellar Ataxia Type 3	Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Abnormality of...	ORPHA:98757
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Epilepsy, Familial Adult Myoclonic, 1	Enhancement of the C-reflex, Giant somatosensory evoked potentials, Tremor	OMIM:601068
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance, Hyperactivity	OMIM:618090
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia	ORPHA:98763
Charcot-Marie-Tooth Disease And Deafness	Ankle weakness, Limb muscle weakness, Foot dorsiflexor weakness, Tremor, Distal muscle weakness	OMIM:118300
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Progressive cerebellar ataxia, Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Distal ...	ORPHA:504476
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Low-set ears, Highly arched eyebrow, Downslanted palpebral fissures, Bruxism, Tremor, Sensorineur...	OMIM:618342
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Abnormal autonomic nervous sys...	OMIM:300894
Myositis	Proximal muscle weakness	OMIM:160750
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopen...	OMIM:155100
Autosomal Recessive Dopa-Responsive Dystonia	Oculogyric crisis, Fever, Generalized dystonia, Postural tremor, Limb dystonia, Myoclonus, Gait a...	ORPHA:101150
Amish Nemaline Myopathy	Progressive muscle weakness, Tremor, Respiratory insufficiency due to muscle weakness	ORPHA:98902
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Tongue fasciculations, Growth delay, Hypothermia, Exaggerated startle response	OMIM:608800
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Impaired tandem...	OMIM:300423
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Resting tremor, Abnormal fear-induced behavior, Obesity, Tremor...	ORPHA:3077
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopaminergic med...	OMIM:616710
Obesity Due To Sim1 Deficiency	Obesity, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system ph...	ORPHA:369873
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Muscle weakness, Ataxia	OMIM:300619
Sudden Infant Death Syndrome	Malignant hyperthermia	OMIM:272120
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Fever	OMIM:619175
X-Linked Charcot-Marie-Tooth Disease Type 1	Impaired pain sensation, Hearing impairment, Tremor, Gait disturbance, Ataxia	ORPHA:101075
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Inappropriate behavior, Fasciculations, Abnormality of extrapyramidal motor...	ORPHA:275864
Autosomal Spastic Paraplegia Type 58	Erratic myoclonus, Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,...	ORPHA:397946
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Inappropriate behavior, Extrapyramidal muscular rigidity, Speech apraxia, T...	ORPHA:99750
Spinocerebellar Ataxia 50	Hearing impairment, Chorea, Head tremor, Postural tremor, Action tremor, Myoclonus, Apraxia, Ptos...	OMIM:620158
X-Linked Charcot-Marie-Tooth Disease Type 3	Proximal muscle weakness in lower limbs, Spastic paraparesis, Progressive distal muscle weakness,...	ORPHA:101077
Machado-Joseph Disease	Spasticity, Facial-lingual fasciculations, Fasciculations, Limb ataxia, Rigidity, Dystonia, Babin...	OMIM:109150
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypothermia, Intrauterine growth retardation, Growth delay, Failure to thrive	OMIM:245400
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Severe Intellectual Disability And Progressive Spastic Paraplegia	Spasticity, Spastic dysarthria, Progressive spastic paraplegia, Difficulty walking, Babinski sign...	ORPHA:280763
Hyperphenylalaninemia, Bh4-Deficient, A	Recurrent fever, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, B...	OMIM:261640
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Hearing impairment, Hand tremor, Limb myoclonus, Fasciculations, Difficult...	ORPHA:276198
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra...	ORPHA:71517
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo...	OMIM:617145
Epilepsy, Familial Adult Myoclonic, 3	Enhancement of the C-reflex, Giant somatosensory evoked potentials, Myoclonus, Tremor	OMIM:613608
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Distal muscle weakness, Gait ataxia, Action tremor	OMIM:180800
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Spinocerebellar Ataxia Type 27	Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Aggressive behavior,...	ORPHA:98764
Infantile Neuroaxonal Dystrophy	Optic atrophy, Spasticity, Temperature instability, Spastic tetraparesis, Abnormality of peripher...	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	Low-set ears, Hearing impairment, Oral-pharyngeal dysphagia, Downslanted palpebral fissures, Obes...	ORPHA:480907
X-Linked Dystonia-Parkinsonism	Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Torsion dystonia, Progressive extrapy...	ORPHA:53351
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Ophthalmoplegia, Oculomotor ...	ORPHA:1170
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia	ORPHA:324588
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Bradykinesia, Bruxism, O...	OMIM:300055
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism...	ORPHA:306669
Parkinson Disease 2, Autosomal Recessive Juvenile	Shuffling gait, Pill-rolling tremor, Resting tremor, Bradykinesia, Postural tremor, Gait ataxia, ...	OMIM:600116
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ...	OMIM:619279
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Small for gestational age, Tremor, Ataxia	OMIM:278780
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Fever, Elbow flexion contracture, Obesity, Hypothermia, Hip contracture, Abnormali...	OMIM:618493
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia	OMIM:615362
Neurodegeneration With Brain Iron Accumulation 7	Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia, Dysphagia	OMIM:617916
Christianson Syndrome	Inappropriate laughter, Thick eyebrow, Gait ataxia, Cachexia, Dysphagia, Truncal ataxia, Dystonia...	ORPHA:85278
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Tremor, Hypertonia, Ataxia, Short stature	ORPHA:1368
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Spasticity, Temperature instability, Abnormal autonomic nervous system physiology,...	OMIM:616683
Dystonia 16	Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ...	OMIM:612067
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Resting tremor, Gait ataxia, Intention tremor, Abnormal cranial nerve morphology, Rig...	ORPHA:247234
Xq28 (MECP2) duplication	Failure to thrive, Inability to walk, Gait ataxia, Motor stereotypy, Progressive spasticity, Dysp...	DECIPHER:45
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ...	ORPHA:363654
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Hearing impairment, Bradykinesia, Incoordination, Limb ataxi...	OMIM:615157
N-Acetylglutamate Synthase Deficiency	Hypothermia, Failure to thrive, Hypertonia	OMIM:237310
Non-Specific Early-Onset Epileptic Encephalopathy	Involuntary movements, Spasticity, Failure to thrive, Downslanted palpebral fissures, Difficulty ...	ORPHA:442835
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Bradykinesia...	ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Limb ataxia, Gait ataxia, Tremor, Distal muscle weakness, Frequent falls	OMIM:616719
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Bilateral ptosis, Difficulty walking, Inability to walk, Tremor, Dystonia	ORPHA:330050
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Tremor, Rigidity, Di...	OMIM:606159
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Abnor...	OMIM:616840
Alexander Disease Type Ii	Spasticity, Spastic paraparesis, Rigidity, Babinski sign, Abnormal autonomic nervous system physi...	ORPHA:363722
Intellectual Developmental Disorder, Autosomal Recessive 39	Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia, Synophrys	OMIM:615541
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Large earlobe, Inability to walk, Long eyelashes, Telecanthus, Myoclonus, Th...	ORPHA:411986
Radio-Tartaglia Syndrome	Low-set ears, Hearing impairment, Agenesis of corpus callosum, Epicanthus, Narrow palpebral fissu...	OMIM:619312
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Difficulty walking, Spasticity, Motor stereotypy, Failure to thrive	OMIM:617393
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Neuromuscular dysphagia, Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable respo...	ORPHA:240085
Spinocerebellar Ataxia, Autosomal Recessive 13	Inability to walk, Gait ataxia, Tremor, Dysmetria, Abnormal pyramidal sign, Ptosis, Ataxia, Dysdi...	OMIM:614831
Syngap1-Related Developmental And Epileptic Encephalopathy	Poor coordination, Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait,...	ORPHA:544254
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Bradykinesia, Akinesia, Myoclonus, Tremor, Distal sensory impairm...	OMIM:606693
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Muscle weakness, Ataxia	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	Self-injurious behavior, Motor stereotypy, Spastic tetraplegia, Hypertonia	OMIM:615282
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Dysmetria, Tremor, Distal sensory ...	OMIM:302800
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Myoclonic spasms, Ataxia, Poor head...	ORPHA:79263
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Hypothermia, Umbilical hernia	ORPHA:226313
Alexander Disease	Spasticity, Failure to thrive, Chorea, Hypothermia, Tremor, Abnormal pyramidal sign, Clonus, Tetr...	ORPHA:58
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Tremor, Gowers sign	ORPHA:209335
Undifferentiated Pleomorphic Sarcoma	Weight loss, Fever	ORPHA:2023
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Hearing impairment, Difficulty walking, Impaired vibration sensation in the lower limbs, Tremor, ...	ORPHA:137898
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormal nerve conduction velocity, Abnormality of temperature regulation, Heat intolerance, Camp...	ORPHA:2926
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Parkinsonism, Bradykinesia, Resting tremor, Rigidity	OMIM:614251
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Sensorineural hearing impairment, Tre...	OMIM:610185
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Spasticity, Fever, Gait ataxia, Frequent falls, Intention tremor, Progressive cere...	ORPHA:466794
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia	OMIM:614018
Spinocerebellar Ataxia, Autosomal Recessive 31	Bruxism, Tremor, Self-mutilation, Ptosis, Ataxia, Bilateral sensorineural hearing impairment, Dys...	OMIM:619422
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Dysmetria, Ataxia, Compulsive behaviors, Unsteady gait, Titubation	OMIM:619405
Hsd10 Disease	Spastic paraparesis, Hearing impairment, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, D...	ORPHA:391417
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia	OMIM:606658
Spinocerebellar Ataxia 42	Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady ga...	OMIM:616795
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hyperventilation, Small for gestational age, Hypothermia	OMIM:618775
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Low-set ears, Pain insensitivity, Inability to walk, Bruxism, Chorea, Upslanted palpebral fissure...	OMIM:300260
Parkinsonian-Pyramidal Syndrome	Spasticity, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal pyramidal sign, ...	ORPHA:171695
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 7	Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm...	OMIM:609270
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Abnormal autonomic nervous system physiology	OMIM:615548
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Aggressive behavior, Parkinsonism, Hyperto...	OMIM:619738
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Myoclonic-Atonic Epilepsy	Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Developmental And Epileptic Encephalopathy 6B	Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Motor stereotypy,...	OMIM:619317
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Upper limb muscle weakness, Lower limb muscle weakness, Limb fasciculations, Tremor, Fatiguable w...	ORPHA:90117
Posttransplant Acute Limbic Encephalitis	Dystonia, Myoclonus, Abnormal autonomic nervous system physiology, Ataxia	ORPHA:163921
Parkinson Disease, Late-Onset	Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Abnormal autonomic nervous system p...	OMIM:168600
Coenzyme Q10 Deficiency, Primary, 4	Myoclonus, Tremor, Proximal muscle weakness, Abnormal pyramidal sign, Ataxia	OMIM:612016
Brain Dopamine-Serotonin Vesicular Transport Disease	Shuffling gait, Oculogyric crisis, Spastic tetraparesis, Abnormality of coordination, Limb dyston...	ORPHA:352649
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Distal muscle weakness, Tremor	OMIM:607734
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Self-mutilation, Hyperkinetic movements, Gait disturbance, Overweight, Motor stereotypy, ...	ORPHA:457240
Developmental And Epileptic Encephalopathy 32	Myoclonus, Tremor, Ataxia	OMIM:616366
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Ataxia, Unsteady gait	OMIM:213200
Attrv30M Amyloidosis	Weight loss, Abnormal autonomic nervous system physiology	ORPHA:85447
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Malignant hyperthermia, Arthrogryposis multiplex congenita, Torticollis	OMIM:217150
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Failure to thrive, Large fleshy ears, Inability to walk, Tremor, Attention deficit hyperactivity ...	OMIM:619556
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Neuromuscular dysphagia, Falls, Progressive extrapyramidal muscular rigidity, Brad...	ORPHA:240071
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Arthrogryposis multiplex congenita, Gait ataxia, Abnormal autonomic nervou...	OMIM:243180
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Muscle weakness	OMIM:254950
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia	OMIM:618587
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Downslanted palpebral fissures, Telecanthus, Almond-shaped palpebral fissure, Epicanthus, Attenti...	OMIM:620292
Multicentric Reticulohistiocytosis	Cachexia, Fever	ORPHA:139436
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Orthostatic hypote...	OMIM:105210
Myxopapillary Ependymoma	Autonomic bladder dysfunction	ORPHA:251643
Crigler-Najjar Syndrome Type 1	Tremor, Oculomotor nerve palsy	ORPHA:79234
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Aggressive behavior, Lower limb spasticity, Paraparesis, Hypertonia,...	OMIM:612736
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel...	OMIM:607483
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation	OMIM:609821
Leukodystrophy, Hypomyelinating, 11	Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia	OMIM:616494
Mohr-Tranebjaerg Syndrome	Shuffling gait, Prelingual sensorineural hearing impairment, Generalized dystonia, Inability to w...	ORPHA:52368
Epilepsy, Familial Focal, With Variable Foci 4	Abnormal autonomic nervous system physiology	OMIM:617935
Ataxia With Vitamin E Deficiency	Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,...	ORPHA:96
4Q21 Microdeletion Syndrome	Low-set ears, Self-injurious behavior, Hearing impairment, Long eyelashes, Tremor, Agenesis of co...	ORPHA:238750
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Head tremor, Abnormality of extrapyramidal motor function, Dystonia, Abnormal pyramid...	ORPHA:280219
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Highly arched eyebrow, Self-injurious behavior, Obesity, Upslanted palpebral ...	OMIM:600430
Meningococcal Meningitis	Fever, Papilledema, Hypothermia	ORPHA:33475
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Acroparesthesia,...	ORPHA:206443
Pelizaeus-Merzbacher Disease	Ataxia, Spastic paraplegia, Broad-based gait, Failure to thrive, Hearing impairment, Generalized ...	OMIM:312080
Behr Syndrome	Tremor, Dysmetria, Babinski sign, Gait disturbance, Dysphagia, Ataxia, Truncal ataxia, Unsteady g...	OMIM:210000
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Spasticity, Pseudobulbar paralysis, Autonomic bladder dysfunction, Orthostatic hypotension due to...	OMIM:169500
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Spasticity, Multiple joint contractures, Abnormal autonomic nervous system physiol...	ORPHA:466934
Fragile X Tremor/Ataxia Syndrome	Poor fine motor coordination, Resting tremor, Hearing impairment, Postural tremor, Gait ataxia, A...	OMIM:300623
Spinocerebellar Ataxia 29	Truncal titubation, Broad-based gait, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Impa...	OMIM:117360
Oculopharyngodistal Myopathy 4	External ophthalmoplegia, Postural tremor, Distal muscle weakness, Tremor	OMIM:619790
Sneddon Syndrome	Tremor, Chorea, Muscle weakness, Hemiparesis	ORPHA:820
Amyotrophic Lateral Sclerosis 8	Fasciculations, Postural tremor, Proximal muscle weakness, Progressive muscle weakness, Abnormal ...	OMIM:608627
Neurodevelopmental Disorder With Dystonia And Seizures	Temperature instability, Intrauterine growth retardation, Chorea, Dystonia, Athetosis, Spastic te...	OMIM:619922
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Spasticity, Broad-based gait, Prominent antihelix, Difficulty walking, Gait ataxia, Upslanted pal...	OMIM:617807
Urocanic Aciduria	Truncal ataxia, Gait ataxia, Action tremor, Ataxia	ORPHA:210128
Spinocerebellar Ataxia With Epilepsy	Gait ataxia, Myoclonus, Dysmetria, Tremor, Ptosis, Dystonia, Dysdiadochokinesis, Progressive cere...	ORPHA:254881
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Overweight, Motor stereotypy	OMIM:620065
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	Impaired arachidonic acid-induced platelet aggregation, Abnormal dense granule content, Impaired ...	OMIM:601399
Dystonia 34, Myoclonic	Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Ptosis, Torticollis, Writer's cramp, D...	OMIM:619724
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Bradyki...	OMIM:612953
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Self-injurious behavior, Short palpebral fissure, Failure to thrive, Recurrent hand flapping, Alm...	OMIM:300986
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Spasticity, Failure to thrive, Fever, Chorea, Gait ataxia, Hypothermia, Hypertonia...	ORPHA:255210
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Bradykinesia, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigid...	OMIM:618877
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Ophthalmoparesis, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonu...	ORPHA:101
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Low-set ears, Spasticity, Obesity, Epicanthus, Motor stereotypy, Aggressive behavior, Hyperactivi...	OMIM:618430
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Lateral ventricle dilatation, Inability to walk, Upslanted palpebral fissure, Motor...	OMIM:613443
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Ataxia	OMIM:603585
Dentici-Novelli Neurodevelopmental Syndrome	Hearing impairment, Inability to walk, Upslanted palpebral fissure, Hypertonia, Motor stereotypy,...	OMIM:619877
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Involuntary movements, Lateral ventricle dilatation, Large earlobe, Bruxism, Inability to walk, U...	OMIM:615716
Melkersson-Rosenthal Syndrome	Facial palsy, Fever, Abnormal autonomic nervous system physiology	ORPHA:2483
Gerstmann-Straussler Disease	Spasticity, Lower limb muscle weakness, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Pa...	OMIM:137440
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Low-set ears, Self-injurious behavior, Broad-based gait, Cupped ear, Downslanted palpebral fissur...	OMIM:617101
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Thrombocytopen...	OMIM:139090
Chromosome 5P13 Duplication Syndrome	Low-set ears, Self-injurious behavior, Short palpebral fissure, Upslanted palpebral fissure, Agen...	OMIM:613174
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Marbach-Schaaf Neurodevelopmental Syndrome	Hemidystonia, Short palpebral fissure, Recurrent otitis media, Speech apraxia, Obesity, Recurrent...	OMIM:619680
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Gait ataxia, Tremor, Ataxia	OMIM:617831
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Hearing impairment, Bilateral ptosis, Bruxism, Upslanted palpebral fissure, Epi...	OMIM:616351
Perry Syndrome	Short stepped shuffling gait, Inappropriate behavior, Bradykinesia, Akinesia, Tremor, Rigidity, D...	OMIM:168605
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Fasciculations, Foot dorsiflexor weakness, Polyminimyoclonus, Tremor, Triceps...	OMIM:619574
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Oromandibular Dystonia	Blepharospasm, Generalized dystonia, Laryngeal dystonia, Bruxism, Limb dystonia, Hyperkinetic mov...	ORPHA:93958
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Chorea, Limb ataxia, Gait ataxia, Tremor, Progressive external ophthalmoplegia, Oculomotor apraxi...	OMIM:208920
Pyruvate Dehydrogenase E1-Alpha Deficiency	Episodic ataxia, Myoclonus, Tremor, Agenesis of corpus callosum, Ptosis, Dystonia, Small for gest...	OMIM:312170
Combined Oxidative Phosphorylation Deficiency 37	Hypothermia, Optic atrophy, Spasticity, Failure to thrive	OMIM:618329
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Spasticity, Oculogyric crisis, Lateral ventricle dilatation, Oral-pharyn...	ORPHA:208447
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Tremor, Decreased circulating IgA level, Decreased circulating antibody level, Muscle weakness	OMIM:617744
Parkinson Disease 20, Early-Onset	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Bradykinesia, Tremor, Rigidi...	OMIM:615530
Hypermanganesemia With Dystonia 2	Spasticity, Tip-toe gait, Generalized dystonia, Bradykinesia, Inability to walk, Limb dystonia, T...	OMIM:617013
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Broad-based gait, Failure to thrive, Stereotypical body rocking, Thick eye...	OMIM:617865
Oculopharyngodistal Myopathy 3	Neck muscle weakness, Limb muscle weakness, Tremor, Ophthalmoplegia, Ataxia	OMIM:619473
Shukla-Vernon Syndrome	Broad-based gait, Downslanted palpebral fissures, Aggressive behavior, Attention deficit hyperact...	OMIM:301029
Neuronal Intranuclear Inclusion Disease	Tremor, Rigidity, Muscle weakness, Ataxia	OMIM:603472
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus...	OMIM:183090
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Short stature, Dystonia,...	OMIM:612438
Bernard-Soulier Syndrome	Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo...	OMIM:231200
Glycosylphosphatidylinositol Biosynthesis Defect 15	Spasticity, Inability to walk, Gait ataxia, Tremor, Dysmetria, Apraxia	OMIM:617810
Timothy Syndrome	Hypothermia	OMIM:601005
Intellectual Developmental Disorder, Autosomal Dominant 45	Cerebral palsy, Slender build, Chorea, Myoclonus, Recurrent hand flapping, Attention deficit hype...	OMIM:617600
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Dystonia	OMIM:619911
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Fever, Myoclonus, Spastic hemiparesis, Hypothermia, Weight loss, Ataxia	ORPHA:20
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Self-injurious behavior, Downslanted palpebral fissures, Thick eyebrow, Upsla...	OMIM:617061
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Babinski sign, Parkinsonism, Orthostatic hypotension, Abnormal autonomic nervou...	OMIM:146500
Cerebral Creatine Deficiency Syndrome 1	Spasticity, Broad-based gait, Poor hand-eye coordination, Failure to thrive, Speech apraxia, Aggr...	OMIM:300352
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Limb ataxia, Gait ataxia, Decreased distal sensory nerve action potential, Abnormal autonomic ner...	OMIM:614575
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Thin eyebrow, Motor stereotypy	OMIM:619690
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300495
Brody Disease	Malignant hyperthermia, Flexion contracture, Fasciculations	OMIM:601003
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Highly arched eyebrow, Polyphagia, Paroxysmal bursts of laughter, Hypera...	ORPHA:228402
Spinocerebellar Ataxia Type 18	Hearing impairment, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation	ORPHA:98771
Glutathionuria	Dysdiadochokinesis, Action tremor, Tremor, Agenesis of corpus callosum	OMIM:231950
Glut1 Deficiency Syndrome 2	Dystonia, Choreoathetosis, Tremor, Ataxia	OMIM:612126
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Spasticity, Disinhibition, Babinski sign, Motor stereotypy, Dysphagia	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	Sparse eyebrow, Decreased body mass index, Failure to thrive, Tremor, Sparse eyelashes, Attention...	ORPHA:370079
Neuroleptic Malignant Syndrome	Oculogyric crisis, Fever, Extrapyramidal muscular rigidity, Chorea, Hypothermia, Tremor, Abnormal...	ORPHA:94093
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Dysmetria, Conjunctival hyperemia, Babinski sign, Scissor gait, Attention ...	OMIM:619121
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Progressive distal muscle weakness, Lower limb muscle weakness, Proximal muscle weakness	ORPHA:397744
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Obesity, Tremor, Sensorineural hearing impairment, Dysplastic corpu...	OMIM:619737
Sepsis In Premature Infants	Temperature instability, Fever, Hypothermia, Decreased body weight, Small for gestational age	ORPHA:90051
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Tremor, Dysmetria, Loss of ambulation, Babinski sign, Ataxia, Dyston...	OMIM:607694
Rett Syndrome	Failure to thrive, Bradykinesia, Difficulty walking, Bruxism, Inability to walk, Stereotypical ha...	ORPHA:778
Adult-Onset Cervical Dystonia, Dyt23 Type	Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, Torticollis, Writer's...	ORPHA:420492
Hyperphenylalaninemia, Bh4-Deficient, B	Recurrent fever, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathet...	OMIM:233910
Alazami Syndrome	Low-set ears, Short palpebral fissure, Sparse eyebrow, Abnormal eating behavior, Self-mutilation,...	ORPHA:319671
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Aganglionic megacolon, Flexion contracture, Abnormal aut...	OMIM:613870
Insensitivity To Pain, Congenital, With Anhidrosis	Corneal scarring, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous ...	OMIM:256800
Spinocerebellar Ataxia Type 21	Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell...	ORPHA:98773
Coffin-Siris Syndrome 6	Low-set ears, Conductive hearing impairment, Downslanted palpebral fissures, Epicanthus, Motor st...	OMIM:617808
Nmda Receptor Encephalitis	Involuntary movements, Oculogyric crisis, Fever, Orthostatic tachycardia, Chorea, Myoclonus, Rigi...	ORPHA:217253
48,Xxyy Syndrome	Obesity, Upslanted palpebral fissure, Tremor, Epicanthus, Attention deficit hyperactivity disorde...	ORPHA:10
Machado-Joseph Disease Type 1	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276241
Hermansky-Pudlak Syndrome 3	Abnormal number of dense granules, Impaired platelet aggregation	OMIM:614072
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Von Willebrand Disease, Type 3	Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Pilarowski-Bjornsson Syndrome	Downslanted palpebral fissures, Speech apraxia, Long eyelashes, Almond-shaped palpebral fissure, ...	OMIM:617682
Hereditary Central Diabetes Insipidus	Weight loss, Growth delay, Fever	ORPHA:30925
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Progressive muscle weakness, Tremor	OMIM:605355
Spinocerebellar Ataxia Type 13	Hearing impairment, Difficulty walking, Limb ataxia, Gait ataxia, Myoclonus, Clumsiness, Dysphagi...	ORPHA:98768
Jaberi-Elahi Syndrome	Low-set ears, Sparse eyebrow, Broad-based gait, Failure to thrive, Inability to walk, Gait ataxia...	OMIM:617988
Bleeding Disorder, Platelet-Type, 17	Absence of alpha granules, Thrombocytopenia, Macrothrombocytopenia, Impaired collagen-induced pla...	OMIM:187900
Pyruvate Dehydrogenase Deficiency	Spasticity, Cerebral palsy, Upslanted palpebral fissure, Tremor, Epicanthus, Abnormal pyramidal s...	ORPHA:765
4H Leukodystrophy	Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ataxia, Ataxia,...	ORPHA:289494
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Chronic Pneumonitis Of Infancy	Hyperventilation, Fever, Failure to thrive	ORPHA:91359
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypothermia, Obesity, Overweight, Small for gestational age	ORPHA:26793
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Failure to thrive, Myoclonus, Hypothermia, Hyperkinetic movements, Hypertonia, Dystonia, Growth d...	ORPHA:17
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Low-set ears, Involuntary movements, Prominent crus of helix, Downslanted palpebral fissures, Thi...	OMIM:617804
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Tremor, Dysmetria, Epicanthus, Limb hypertonia, Hypertonia, Exag...	OMIM:618056
Smith-Magenis Syndrome	Pain insensitivity, Head-banging, Hearing impairment, Impaired pain sensation, Abnormal middle ea...	OMIM:182290
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hearing impairment, Inability to walk, Gait ataxia, Recurrent hand flapping, Opisthotonus, Attent...	OMIM:619580
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Generalized lipodystrophy, Limb dystonia, Myoc...	ORPHA:363400
Myopathy With Extrapyramidal Signs	Difficulty walking, Chorea, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Epi...	OMIM:615673
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Umbilical hernia, Hypothermia, Clumsiness, Growth delay	ORPHA:90674
Intellectual Developmental Disorder, X-Linked 12	Spasticity, Tremor, Sensorineural hearing impairment, Hyperkinetic movements, Gait disturbance, T...	OMIM:300957
Cri-Du-Chat Syndrome	Low-set ears, Small for gestational age, Hearing impairment, Downslanted palpebral fissures, Diff...	OMIM:123450
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Highly arched eyebrow, Downslanted palpebral fissures, Obsessive-compulsive t...	OMIM:618825
Nipah Virus Disease	Myoclonus, Fever, Tremor	ORPHA:99825
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Downslanted palpebral fissures, Speech apraxia, Thick eyebrow, Almond-shaped palpebral fissure, M...	ORPHA:529965
Young-Onset Parkinson Disease	Spasticity, Bradykinesia, Tremor, Rigidity, Abnormal autonomic nervous system physiology, Dystonia	ORPHA:2828
Autoinflammatory-Pancytopenia Syndrome	Fever, Failure to thrive, Recurrent fever, Lipodystrophy, Growth delay	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	Aganglionic megacolon, Small for gestational age, Failure to thrive, Abnormal autonomic nervous s...	ORPHA:99803
Developmental And Epileptic Encephalopathy 46	Dysphagia, Limb hypertonia, Failure to thrive, Tremor	OMIM:617162
Obesity-Hypoventilation Syndrome	Obesity, Hypoventilation	OMIM:257500
Rauch-Steindl Syndrome	Highly arched eyebrow, Failure to thrive, Prominent crus of helix, Telecanthus, Upslanted palpebr...	OMIM:619695
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor	OMIM:614307
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Foot dorsiflexor weakness, Tremor, Babins...	OMIM:616586
Congenital Enterovirus Infection	Fever, Hypothermia	ORPHA:292
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	OMIM:608768
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Obesity, Motor stereotypy	OMIM:613886
Peroxisome Biogenesis Disorder 5B	Tremor, Dysmetria, Sensorineural hearing impairment, Oculomotor apraxia, Ataxia, Unsteady gait	OMIM:614867
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Foxg1 Syndrome Due To 14Q12 Microdeletion	Downslanted palpebral fissures, Abnormal antihelix morphology, Agenesis of corpus callosum, Protr...	ORPHA:261144
Ritscher-Schinzel Syndrome 4	Downslanted palpebral fissures, Chorea, Agenesis of corpus callosum, Impulsivity, Aggressive beha...	OMIM:619435
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Epicanthus, Hyperactivity, Ataxia, Upper motor neuron dysfunction, Moto...	ORPHA:530983
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Myoclonus, Gait ataxia, Dysmetria, Tremor, Babinski sign, Hypertonia, Ataxia, Intention tremor, M...	OMIM:616505
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Low-set ears, Impaired pain sensation, Incoordination, Gait ataxia, Upslanted palpebral fissure, ...	OMIM:616579
Blepharophimosis-Impaired Intellectual Development Syndrome	Low-set ears, Highly arched eyebrow, Sparse eyebrow, Long eyelashes, Thick eyebrow, Overfriendlin...	OMIM:619293
Coffin-Siris Syndrome 7	Low-set ears, Hearing impairment, Downslanted palpebral fissures, Recurrent otitis media, Thick e...	OMIM:618027
Combined Oxidative Phosphorylation Deficiency 32	Spasticity, Inability to walk, Tremor, Ptosis, Dystonia, Dysphagia, Choreoathetosis	OMIM:617664
Alternating Hemiplegia Of Childhood	Failure to thrive, Episodic hemiplegia, Tetraparesis, Chorea, Tremor, Rigidity, Abnormal pyramida...	ORPHA:2131
Snijders Blok-Campeau Syndrome	Low-set ears, Broad-based gait, Speech apraxia, Epicanthus, Attention deficit hyperactivity disor...	OMIM:618205
Focal Myositis	Weight loss, Fever	ORPHA:48918
Genetic Transient Congenital Hypothyroidism	Hypothermia, Umbilical hernia	ORPHA:226316
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno...	ORPHA:206594
Menkes Disease	Spasticity, Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Intrauterine growth r...	ORPHA:565
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Lateral ventricle dilatation, Downslanted palpebral fissures, Inability to walk, Obes...	OMIM:619229
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Abnormal pyramidal sign, Gait disturbance, Ataxia, Dystonia	ORPHA:542310
Dopamine Beta-Hydroxylase Deficiency	Hypothermia, Orthostatic hypotension	ORPHA:230
Orthostatic Hypotension 1	Intermittent hypothermia, Orthostatic hypotension	OMIM:223360
Aromatic L-Amino Acid Decarboxylase Deficiency	Oculogyric crisis, Failure to thrive, Tremor, Babinski sign, Ptosis, Limb hypertonia, Dystonia, D...	ORPHA:35708
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Self-injurious behavior, Crumpled ear, Medial flaring of the eyebrow, Cupped ear, Failure to thri...	OMIM:620494
Von Willebrand Disease	Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:903
Cystathioninuria	Abnormal pinna morphology, Tremor	ORPHA:212
Intellectual Developmental Disorder, Autosomal Dominant 48	Low-set ears, Highly arched eyebrow, Lateral ventricle dilatation, Recurrent otitis media, Sensor...	OMIM:617751
Adult-Onset Distal Myopathy Due To Vcp Mutation	Fasciculations, Facial diplegia, Foot dorsiflexor weakness, Tremor, Parkinsonism, Distal muscle w...	ORPHA:329478
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Weight loss,...	ORPHA:330001
Inverted Duplicated Chromosome 15 Syndrome	Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Epicanthus, Aggressive behavio...	ORPHA:3306
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Spasticity, Prominent antihelix, Failure to thrive, Inappropriate laughter...	OMIM:615802
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Spasticity, Spastic paraplegia, Dysmetria, Babinski sign, Abnormal ...	ORPHA:459056
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Dysmetria, Tremor, Limb hypertonia, Thrombocytopenia, Ataxia, Hypertonia, Dystonia, Athetosis, Sp...	OMIM:617710
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Failure to thrive	OMIM:614857
Neuroferritinopathy	Blepharospasm, Arm dystonia, Involuntary movements, Resting tremor, Bradykinesia, Difficulty walk...	ORPHA:157846
Pfapa Syndrome	Weight loss, Abnormality of temperature regulation	ORPHA:42642
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Failure to thrive, Epicanthus, Attention deficit hyperactivity disorder, Aggressive behavior, Hyp...	OMIM:620242
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Intellectual Developmental Disorder, X-Linked 98	Failure to thrive, Downslanted palpebral fissures, Bulimia, Bruxism, Stereotypical body rocking, ...	OMIM:300912
Immunodeficiency 81	Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ...	OMIM:619374
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Obesity, Abnormal eating behavior, Myoclonus, Inappropriate laughter, Tremor, R...	ORPHA:98794
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Low-set ears, Head-banging, Sparse lateral eyebrow, Downslanted palpebral fissures, Frequent temp...	OMIM:619103
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spasticity, Optic nerve hypoplasia, Postnatal growth retardation, Spastic ataxia, Oculomotor apra...	ORPHA:300570
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation	OMIM:605735
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Gait ataxia, Tremor, Self-mutilation, Epicanthus, Attention deficit hyperactiv...	ORPHA:476126
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypothermia, Growth delay, Failure to thrive	OMIM:251880
Machado-Joseph Disease Type 3	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276244
Intellectual Developmental Disorder, Autosomal Dominant 38	Low-set ears, Self-injurious behavior, Downslanted palpebral fissures, Bruxism, Hair-pulling, Epi...	OMIM:616393
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Spasticity, Spastic paraparesis, Arthrogryposis multiplex congenita, Decreased nerve conduction v...	OMIM:609136
Potocki-Lupski Syndrome	Failure to thrive, Oral-pharyngeal dysphagia, Downslanted palpebral fissures, Hearing impairment,...	OMIM:610883
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Impaired collagen-related peptide-induced platelet agg...	OMIM:153670
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi...	OMIM:607060
Hijazi-Reis Syndrome	Gait disturbance, Lower limb spasticity, Motor stereotypy, Ankle clonus	OMIM:301094
Perry Syndrome	Parkinsonism, Tremor, Abnormality of extrapyramidal motor function	ORPHA:178509
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Gabriele-De Vries Syndrome	Low-set ears, Sparse eyebrow, Lateral ventricle dilatation, Tip-toe gait, Downslanted palpebral f...	OMIM:617557
Ethylene Glycol Poisoning	Myoclonus, Hypothermia, Ataxia, Facial palsy, Slurred speech	ORPHA:31826
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa...	OMIM:613280
Acute Transverse Myelitis	Spasticity, Fever, Autonomic bladder dysfunction, Paraplegia, Abnormality of extrapyramidal motor...	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	Low-set ears, Failure to thrive, Downslanted palpebral fissures, Long eyelashes, Thick eyebrow, S...	OMIM:212066
Migraine, Familial Hemiplegic, 2	Fever, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia	OMIM:602481
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Postencephalitic Parkinsonism	Involuntary movements, Oculogyric crisis, Resting tremor, Fever, Cogwheel rigidity, Rigidity, Bab...	ORPHA:97349
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Conjunctival telangiectasia, Progressive g...	OMIM:606002
Carnitine-Acylcarnitine Translocase Deficiency	Hypothermia	ORPHA:159
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Failure to thrive, Intrauterine growth retardation, Hypothermia, Ataxia, Growth de...	ORPHA:79282
Galloway-Mowat Syndrome 6	Epicanthus, Paroxysmal bursts of laughter, Motor stereotypy, Decreased body weight	OMIM:618347
Fragile X-Associated Tremor/Ataxia Syndrome	Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Abnormal autonomic nervous system physiology, Ata...	ORPHA:93256
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Central Hypoventilation Syndrome, Congenital, 3	Heat intolerance, Central hypoventilation	OMIM:619483
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Motor stereotypy, Downslanted palpebral fissures	OMIM:615637
Juvenile Neuronal Ceroid Lipofuscinosis	Poor motor coordination, Loss of ambulation, Clumsiness, Parkinsonism, Motor stereotypy, Myocloni...	ORPHA:79264
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Cupped ear, Lateral ventricle dilatation, Cerebral palsy, Aggressive beh...	OMIM:618914
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxia,...	OMIM:620141
Variant Abeta2M Amyloidosis	Abnormal autonomic nervous system physiology	ORPHA:314652
Late Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Inability to walk, Myoclonus, Obsessive-compulsive trait, Aggressive behavior, Gait d...	ORPHA:168491
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor function, Loss of a...	OMIM:614298
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Impaired platelet aggregation	OMIM:614076
Chédiak-Higashi Syndrome	Spastic paraplegia, Abnormality of neutrophil physiology, Increased proportion of CD25+ mast cell...	ORPHA:167
Late-Onset Familial Hypoaldosteronism	Postnatal growth retardation, Fever, Failure to thrive, Orthostatic hypotension	ORPHA:556037
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Abnormal earlobe morphology, Downslanted palpebral fissures, Obesity, Tremor, E...	ORPHA:85293
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Abnormal pyramidal s...	OMIM:614381
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia, Abnormal autonomic nervous system physiology	OMIM:617903
Bainbridge-Ropers Syndrome	Low-set ears, Highly arched eyebrow, Self-injurious behavior, Lateral ventricle dilatation, Failu...	OMIM:615485
Parkinson Disease 1, Autosomal Dominant	Shuffling gait, Resting tremor, Bradykinesia, Myoclonus, Rigidity, Loss of ambulation, Parkinsoni...	OMIM:168601
Ddost-Cdg	Failure to thrive, Tremor, Lipodystrophy, Short stature, Oromotor apraxia	ORPHA:300536
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas...	ORPHA:274
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Spasticity, Difficulty walking, Gait ataxia, Tremor, Dysmetria, Oculomotor apraxia	ORPHA:529665
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Optic neuropathy, Abnormal autonomic nervous system physiology, Myoclonic spasms	ORPHA:478029
Pure Autonomic Failure	Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:441
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Asymmetry of the ears, Obsessive-compulsive trait, Sensorineural hearing impairment...	OMIM:617796
Tay-Sachs Disease	Progressive spasticity, Distal upper limb muscle weakness, Poor fine motor coordination, Decerebr...	ORPHA:845
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Giant somatosensory evoked potentials, Myoclonus, Tremor, Enhancement of the C-ref...	OMIM:607876
Rett Syndrome, Congenital Variant	Spasticity, Bruxism, Chorea, Protruding ear, Apraxia, Tongue thrusting, Dystonia, Athetosis, Moto...	OMIM:613454
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Progressive Supranuclear Palsy	Blepharospasm, Falls, Bradykinesia, Tremor, Rigidity, Unsteady gait, Dystonia, Dysphagia, Impulsi...	ORPHA:683
22Q11.2 Duplication Syndrome	Hearing impairment, Downslanted palpebral fissures, Anterior creases of earlobe, Epicanthus, Atte...	ORPHA:1727
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Failure to thrive, Paraplegia, Ataxia, Motor stereotypy, Agitation	ORPHA:927
Proximal 16P11.2 Microdeletion Syndrome	Conductive hearing impairment, Failure to thrive, Speech apraxia, Obesity, Sensorineural hearing ...	ORPHA:261197
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus	OMIM:618060
Glanzmann Thrombasthenia	Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time	ORPHA:849
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim...	OMIM:614074
Sneddon Syndrome	Decreased circulating total IgM, Hemiplegia, Facial palsy, Tremor	OMIM:182410
Stuve-Wiedemann Syndrome 1	Fever, Recurrent fever, Elbow flexion contracture, Intrauterine growth retardation, Knee flexion ...	OMIM:601559
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Hearing impairment, Bruxism, Long eyelashes, Thick eye...	OMIM:606232
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Phonic tics, Spasticity, Bradykinesia, Akinesia, Obsessive-compulsive trait, Tremo...	OMIM:234200
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Low-set ears, Bilateral conductive hearing impairment, Inability to walk, Long eyelashes, Dysphag...	OMIM:617802
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Head tremor, Synophrys, Motor stereotypy, Ataxia	OMIM:619428
Waisman Syndrome	Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t...	OMIM:311510
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Horizontal eyebrow, Chorea, Almond-shaped palpebral fissure, Self-mutilation, Hype...	ORPHA:522077
Hypotonia, Ataxia, And Delayed Development Syndrome	Low-set ears, Pain insensitivity, Broad-based gait, Horizontal eyebrow, Downslanted palpebral fis...	OMIM:617330
Hereditary Sensory And Autonomic Neuropathy Type 4	Unexplained fevers, Atypical scarring of skin, Recurrent fever, Fasciitis, Corneal scarring, Abno...	ORPHA:642
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Synophrys, Motor stereotypy, Downslanted palpebral fissures	OMIM:618067
Angelman Syndrome	Self-injurious behavior, Broad-based gait, Inability to walk, Obesity, Inappropriate laughter, My...	ORPHA:72
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Resting tremor, Bradykinesia, Akinesia, Rigidity, Impulsivity, Parkinsonism, Weig...	ORPHA:411602
Hyperlysinemia	Hypoplastic helices, Poor motor coordination, Hypoplasia of the antihelix, Failure to thrive, Tip...	ORPHA:2203
Indifference To Pain, Congenital, Autosomal Recessive	Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology	OMIM:243000
Pitt-Hopkins-Like Syndrome 1	Spasticity, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia,...	OMIM:610042
Joubert Syndrome With Renal Defect	Highly arched eyebrow, Low-set, posteriorly rotated ears, Tremor, Agenesis of corpus callosum, Oc...	ORPHA:220497
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Aggressive behavior, Hyperactivity, Motor stereotypy, Macrotia, Synophrys	ORPHA:391307
Smith-Magenis Syndrome	Self-injurious behavior, Conductive hearing impairment, Impaired pain sensation, Failure to thriv...	ORPHA:819
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Spasticity, Sparse eyebrow, Cataplexy, Fasciculations, Upslanted palpebral fissure, Tetraplegia, ...	ORPHA:496641
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Spastic paraplegia, Tip-toe gait, Tremor, Babinski sign, Gait disturbance	ORPHA:83629
Erythermalgia, Primary	Abnormal autonomic nervous system physiology	OMIM:133020
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li...	ORPHA:466768
5Q14.3 Microdeletion Syndrome	Thick eyebrow, Motor stereotypy, Upslanted palpebral fissure	ORPHA:228384
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Umbilical hernia, Hypothermia, Pituitary dwarfism, Overweight, Growth delay, Optic nerve hypoplasia	ORPHA:226307
Choreoacanthocytosis	Lateral ventricle dilatation, Resting tremor, Limb dystonia, Hair-pulling, Loss of ambulation, Pa...	ORPHA:2388
Spinal Cord Injury	Spasticity, Weakness due to upper motor neuron dysfunction, Abnormal autonomic nervous system phy...	ORPHA:90058
Porphyria Variegata	Respiratory paralysis, Scarring, Abnormal autonomic nervous system physiology, Tetraparesis	ORPHA:79473
Vici Syndrome	Low-set ears, Abnormal posturing, Failure to thrive, Sensorineural hearing impairment, Agenesis o...	OMIM:242840
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Muscle weakness, Ataxia	ORPHA:713
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Downslanted palpebral fissures, Narrow palpebral fissure, Palpebral edem...	ORPHA:397612
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Abnormality of temperature regulation, Abnormal autonomic nervous system p...	OMIM:209880
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Abnormal temper tantrums, Lateral ventricle dilatation, Downslanted palpebral fissu...	ORPHA:457279
Sandifer Syndrome	Abnormal posturing, Torticollis	ORPHA:71272
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Failure to thrive, Heat intolerance, Recurrent fever, Intrauterine growth retardation, Abnormal a...	ORPHA:453499
Tbck-Related Intellectual Disability Syndrome	Hypothermia	ORPHA:488632
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Broad-based gait, Hearing impairment, Decreased body weight, Progressive spastic quad...	OMIM:619475
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Highly arched eyebrow, Abnormal earlobe morphology, Recurrent otitis media, Congenital sensorineu...	ORPHA:500159
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation	OMIM:300835
Joubert Syndrome 35	Oculomotor apraxia, Abnormality of temperature regulation, Ataxia	OMIM:618161
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Fever, Obesity, Hypothermia, Delayed puberty, Abnormal autonomic nervous system physiology, Short...	ORPHA:293987
Fabry Disease	Delayed puberty, Abnormal autonomic nervous system physiology, Fasciculations	OMIM:301500
Tick-Borne Encephalitis	Tongue fasciculations, Incoordination, Speech apraxia, Abnormal cranial nerve morphology, Tremor,...	ORPHA:297
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Highly arched eyebrow, Spasticity, Inability to walk, Limb dystonia, Sen...	ORPHA:457351
Trisomy 20P	Camptodactyly of finger, Incoordination, Umbilical hernia, Inguinal hernia, Hernia, Abnormal auto...	ORPHA:261318
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit...	ORPHA:48818
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Spasticity, Gait ataxia, Self-mutilation, Hyperactivity, Motor stereotypy, Macrotia	OMIM:300486
Unilateral Polymicrogyria	Involuntary movements, Abnormal posturing, Pseudobulbar paralysis, Myoclonus, Hemiparesis, Infant...	ORPHA:268943
Von Willebrand Disease, Type 1	Prolonged bleeding time, Impaired platelet aggregation	OMIM:193400
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Fever, Weight loss, Panniculitis	ORPHA:86884
White-Sutton Syndrome	Low-set ears, Self-injurious behavior, Failure to thrive, Downslanted palpebral fissures, Obesity...	OMIM:616364
Romano-Ward Syndrome	Abnormal autonomic nervous system physiology	ORPHA:101016
Chromosome 15Q11.2 Deletion Syndrome	Clumsiness, Attention deficit hyperactivity disorder, Blepharophimosis, Ataxia, Compulsive behavi...	OMIM:615656
Wars2-Related Combined Oxidative Phosphorylation Defect	Low-set ears, Lateral ventricle dilatation, Difficulty walking, Limb dystonia, Dysmetria, Tremor,...	ORPHA:572798
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Difficulty walking, Inability to walk, Paresthesia, Tremor, Distal sensory impairme...	ORPHA:99956
Myopathy, Mitochondrial, And Ataxia	Hearing impairment, Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory...	OMIM:617675
Cockayne Syndrome Type 1	Optic atrophy, Foot joint contracture, Failure to thrive, Postnatal growth retardation, Abnormali...	ORPHA:90321
Joubert Syndrome With Ocular Defect	Highly arched eyebrow, Low-set, posteriorly rotated ears, Tremor, Agenesis of corpus callosum, Oc...	ORPHA:220493
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Low-set ears, Nasolacrimal duct obstruction, Spasticity, Hearing impairment, Oral-pharyngeal dysp...	OMIM:300966
3P25.3 Microdeletion Syndrome	Downslanted palpebral fissures, Sensorineural hearing impairment, Epicanthus, Attention deficit h...	ORPHA:435638
Hypothyroidism, Congenital, Nongoitrous, 2	Growth delay, Hypothermia, Umbilical hernia	OMIM:218700
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi...	ORPHA:199351
Megalocornea-Intellectual Disability Syndrome	Downslanted palpebral fissures, Sensorineural hearing impairment, Protruding ear, Epicanthus, Ata...	ORPHA:2479
Serotonin Syndrome	Fever, Abnormality of the autonomic nervous system, Myoclonus, Tremor, Rigidity, Clonus, Hypertonia	ORPHA:43116
Periodic Fever, Menstrual Cycle-Dependent	Fever	OMIM:614674
Al Amyloidosis	Weight loss, Abnormal autonomic nervous system physiology, Postural hypotension with compensatory...	ORPHA:85443
Fructose-1,6-Bisphosphatase Deficiency	Hyperventilation, Fever	OMIM:229700
Pseudohypoparathyroidism Type 1A	Involuntary movements, Laryngeal dystonia, Myoclonic spasms, Abnormal platelet function, Choreoat...	ORPHA:79443
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	OMIM:617044
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Low-set ears, Self-injurious behavior, Failure to thrive, Downslanted palpebral fissures, Bilater...	OMIM:619512
Autism, Susceptibility To, 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608049
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology	ORPHA:85451
Ramos-Arroyo Syndrome	Severe short stature, Decreased body weight, Severe failure to thrive, Aganglionic megacolon, Abn...	ORPHA:1051
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Low-set ears, Broad-based gait, Hand tremor, Downslanted palpebral fissures, Short ear, Long eyel...	OMIM:614756
X-Linked Intellectual Disability, Cantagrel Type	Motor stereotypy, Tetraparesis	ORPHA:85277
Cystinosis	Polydipsia, Failure to thrive, Gait disturbance, Abnormal pyramidal sign, Motor stereotypy	ORPHA:213
Kleefstra Syndrome 1	Hearing impairment, Obesity, Upslanted palpebral fissure, Aggressive behavior, Compulsive behavio...	OMIM:610253
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Low-set ears, Hair-pulling, Protruding ear, Motor stereotypy, Lower limb spasticity, Clonus, Hype...	ORPHA:447997
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombocytosis	ORPHA:324636
Occipital Horn Syndrome	Atypical scarring of skin, Keloids, Inguinal hernia, Hypothermia, Hiatus hernia, Scarring, Femora...	ORPHA:198
Autosomal Dominant Spastic Paraplegia Type 9A	Falls, Impaired vibration sensation in the lower limbs, Tremor, Sensorineural hearing impairment,...	ORPHA:447753
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin...	ORPHA:449291
Joubert Syndrome	Low-set ears, Highly arched eyebrow, Tremor, Oculomotor apraxia, Ptosis, Gait disturbance, Ataxia	ORPHA:475
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Involuntary movements, Motor stereotypy, Paroxysmal dys...	ORPHA:98784
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Involuntary movements, Myoclonus, Hypothermia, Uterine prolapse, Exaggerated startle response, Sh...	ORPHA:438213
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Opisthotonus, Hypertonia, Tremor	OMIM:250800
Wolfram Syndrome 1	Hearing impairment, Tremor, Sensorineural hearing impairment, Ptosis, Ataxia, Dysphagia	OMIM:222300
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Short palpebral fissure, Telecanthus, Upslanted palpebral fissure, Agenesis of corpus callosum, A...	OMIM:620073
Wiedemann-Steiner Syndrome	Low-set ears, Short palpebral fissure, Failure to thrive, Long eyelashes, Telecanthus, Thick eyeb...	ORPHA:319182
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia	OMIM:618504
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Involuntary movements, Motor stereotypy, Spasticity, Dysphagia	ORPHA:572013
Renal Nutcracker Syndrome	Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology	ORPHA:71273
Stüve-Wiedemann Syndrome	Recurrent fever, Camptodactyly of finger, Elbow flexion contracture, Intrauterine growth retardat...	ORPHA:3206
Kleefstra Syndrome	Self-injurious behavior, Highly arched eyebrow, Hearing impairment, Obesity, Upslanted palpebral ...	ORPHA:261494
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Horizontal eyebrow, Hearing impairment, Abnormal earlobe morphology, Low...	ORPHA:96121
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Tremor, Aggressive behavior, Oculomotor apraxia, Hyperactivity, At...	OMIM:612716
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro...	ORPHA:3226
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste...	ORPHA:313892
Supranuclear Palsy, Progressive, 1	Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Axial dystonia, Tremor, Rigidity, Pa...	OMIM:601104
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Low-set ears, Self-injurious behavior, Head-banging, Lateral ventricle dilatation, Failure to thr...	OMIM:619575
Oculopharyngodistal Myopathy 1	Ataxia, External ophthalmoplegia, Ophthalmoparesis, Foot dorsiflexor weakness, Tremor, Proximal m...	OMIM:164310
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Low-set ears, Failure to thrive, Intention tremor, Tremor, Neonatal death, Ataxia, Small for gest...	OMIM:614052
2Q37 Microdeletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Conductive hearing impairment, Obesity, Upslanted palpebra...	ORPHA:1001
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Periodic paralysis, Tremor	OMIM:613239
Houge-Janssens Syndrome 3	Self-injurious behavior, Epicanthus, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618354
Pitt-Hopkins Syndrome	Self-injurious behavior, Cupped ear, Sparse medial eyebrow, Incoordination, Gait ataxia, Upslante...	OMIM:610954
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Tremor, Dysmetria, Sensorineural hearing impairment, Babinski sig...	OMIM:618527
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Chorea, Tremor, Proximal muscle weakness, Hyperkinetic movements, Dystonia, Ataxi...	OMIM:615356
Wiskott-Aldrich Syndrome	Abnormal platelet morphology, Abnormal platelet function, Prolonged bleeding time, Thrombocytopenia	ORPHA:906
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Impaired collagen-induced platelet aggregation	OMIM:619172
Malignant Hyperthermia, Susceptibility To, 5	Malignant hyperthermia, Fever	OMIM:601887
Helsmoortel-Van Der Aa Syndrome	Low-set ears, Lateral ventricle dilatation, Epicanthus, Polyphagia, Narrow palpebral fissure, Mot...	OMIM:615873
Joubert Syndrome 8	Hyperventilation, Obesity	OMIM:612291
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Facial palsy, Clonus, Tremor, Generalized muscle weakness	OMIM:619424
Metachromatic Leukodystrophy	Addictive behavior, Hearing impairment, Decerebrate rigidity, Tip-toe gait, Incoordination, Tremo...	ORPHA:512
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Mitochondrial Complex I Deficiency, Nuclear Type 9	Hypoventilation	OMIM:618232
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Spasticity, Cupped ear, Large fleshy ears, Large for gestational age, Tremor, Epica...	OMIM:614080
Noonan Syndrome	Abnormal platelet function, Muscle weakness	ORPHA:648
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Self-injurious behavior, Broad-based gait, Fixated interests, Telecanthus, Up...	OMIM:620330
Joubert Syndrome 17	Hyperventilation	OMIM:614615
Joubert Syndrome 6	Oculomotor apraxia, Motor stereotypy, Ataxia	OMIM:610688
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Spasticity, Thin ear helix, Low-set, posteriorly rotated ears, Upslanted...	ORPHA:468631
Ataxia-Telangiectasia	Dysdiadochokinesis, Failure to thrive, Inability to walk, Myoclonus, Intention tremor, Tremor, Co...	OMIM:208900
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620502
Sarcoidosis	Fever, Hypothermia, Scarring, Weight loss, Facial palsy	ORPHA:797
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Wolfram Syndrome	Optic atrophy, Delayed puberty, Abnormal autonomic nervous system physiology, Ataxia	ORPHA:3463
Hermansky-Pudlak Syndrome 6	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:614075
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Motor stereotypy, Hypertonia	ORPHA:79155
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Impaired ADP-induced platelet aggregation, Absent platelet dens...	OMIM:608233
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Low-set ears, Short palpebral fissure, Cupped ear, Hearing impairment, Downslanted palpebral fiss...	OMIM:309590
Niemann-Pick Disease Type C	Hearing impairment, Speech apraxia, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxi...	ORPHA:646
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Short palpebral fissure, Impaired pain sensation, Long eyelashes, Self-mut...	OMIM:619005
Arboleda-Tham Syndrome	Low-set ears, Recurrent otitis media, Underdeveloped tragus, Epicanthus, Motor stereotypy, Dyspha...	OMIM:616268
Marburg Hemorrhagic Fever	Fever, Hypothermia	ORPHA:99826
Niemann-Pick Disease, Type C2	Spasticity, Cataplexy, Motor stereotypy, Ataxia, Dystonia, Dysphagia	OMIM:607625
Sitosterolemia 1	Giant platelets, Thrombocytopenia, Impaired platelet aggregation	OMIM:210250
Kinsship Syndrome	Low-set ears, Short palpebral fissure, Failure to thrive, Bruxism, Myoclonus, Long palpebral fiss...	OMIM:619297
Beta-Thalassemia	Abnormality of temperature regulation	ORPHA:848
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Low-set ears, Highly arched eyebrow, Difficulty walking, Obesity, Epicanthus, Narrow palpebral fi...	OMIM:618653
Van Esch-O'Driscoll Syndrome	Spasticity, Short palpebral fissure, Unilateral vocal cord paralysis, Upslanted palpebral fissure...	OMIM:301030
Encephalitis Lethargica	Hyperventilation, Fever	ORPHA:83600
Postpoliomyelitis Syndrome	Hypoventilation	ORPHA:2942
Gabriele-De Vries Syndrome	Low-set ears, Sparse eyebrow, Oral-pharyngeal dysphagia, Downslanted palpebral fissures, Telecant...	ORPHA:506358
Transketolase Deficiency	Self-injurious behavior, Hearing impairment, Attention deficit hyperactivity disorder, Compulsive...	ORPHA:488618
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation	OMIM:618372
White-Sutton Syndrome	Self-injurious behavior, Incoordination, Obesity, Sensorineural hearing impairment, Aggressive be...	ORPHA:468678
Developmental And Epileptic Encephalopathy 100	Short palpebral fissure, Chorea, Myoclonus, Gait ataxia, Dysphagia, Motor stereotypy, Choreoathet...	OMIM:619777
Rett Syndrome	Intermittent hyperventilation, Cachexia	OMIM:312750
Triosephosphate Isomerase Deficiency	Spasticity, Tremor, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness...	OMIM:615512
Pitt-Hopkins-Like Syndrome 2	Hyperventilation	OMIM:614325
Lambert-Eaton Myasthenic Syndrome	Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology	ORPHA:43393
Mgat2-Cdg	Decreased circulating IgG level, Decreased circulating antibody level, Impaired platelet aggregation	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	Downslanted palpebral fissures, Recurrent otitis media, Obesity, Epicanthus, Motor stereotypy, Pt...	OMIM:301066
Hermansky-Pudlak Syndrome 8	Impaired platelet aggregation	OMIM:614077
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, Obesity, Upslanted palpebra...	ORPHA:177907
Coffin-Siris Syndrome 12	Low-set ears, Highly arched eyebrow, Prominent antihelix, Failure to thrive, Downslanted palpebra...	OMIM:619325
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Tremor, Sensorineural hearing impairment, Neonatal death, Clonus, Hypertonia, ...	OMIM:617248
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Spasticity, Sensorineural hearing impairment, Epicanthus, Motor stereotypy, Posteri...	OMIM:301040
Childhood Absence Epilepsy	Hyperventilation	ORPHA:64280
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Failure to thrive, Sparse lateral eyebrow, Recurrent otitis media, Stereotypica...	ORPHA:513456
Thyrotoxic Periodic Paralysis	Ophthalmoparesis, Periodic hypokalemic paresis, Lower limb muscle weakness, Episodic flaccid weak...	ORPHA:79102
Childhood Disintegrative Disorder	Motor stereotypy	ORPHA:168782
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Brain abscess, Liver abscess, Neutrophilia	ORPHA:54251
Rabin-Pappas Syndrome	Failure to thrive in infancy, Obesity, Hypoventilation	OMIM:620155
Cholera	Hyperventilation, Fever	ORPHA:173
Ulnar-Mammary Syndrome	Camptodactyly of finger, Obesity, Hernia of the abdominal wall, Delayed puberty, Abnormality of t...	ORPHA:3138
Adult-Onset Still Disease	Leukocytosis, Splenomegaly, Anemia, Neutrophilia, Myocarditis, Pericarditis	ORPHA:829
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation	OMIM:617143
1P36 Deletion Syndrome	Self-injurious behavior, Conductive hearing impairment, Failure to thrive, Horizontal eyebrow, Lo...	ORPHA:1606
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Cntnap2-Related Developmental And Epileptic Encephalopathy	Intermittent hyperventilation, Obesity	ORPHA:163681
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Highly arched eyebrow, Short palpebral fissure, Self-injurious behavior, Failure to...	OMIM:612474
Sweet Syndrome	Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile...	ORPHA:3243
Holocarboxylase Synthetase Deficiency	Hyperventilation	OMIM:253270
Intellectual Developmental Disorder, Autosomal Dominant 57	Hyperventilation, Failure to thrive	OMIM:618050
Dyrk1A-Related Intellectual Disability Syndrome	Failure to thrive, Protruding ear, Gait disturbance, Hyperactivity, Motor stereotypy, Small for g...	ORPHA:464306
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoventilation	OMIM:620275
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Protruding ear, Attention deficit hyperactivity disorder, Gait disturbance, Mo...	ORPHA:464311
Chronic Mucocutaneous Candidiasis	Abnormal dental enamel morphology, Abnormality of temperature regulation	ORPHA:1334
Prader-Willi Syndrome	Temperature instability, Class III obesity, Failure to thrive in infancy, Obesity, Hypoventilatio...	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	Highly arched eyebrow, Downslanted palpebral fissures, Upslanted palpebral fissure, Motor stereot...	OMIM:301044
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia	OMIM:617099
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperventilation, Small for gestational age	OMIM:617799
Ogden Syndrome	Low-set ears, Palpebral thickening, Sparse eyebrow, Downslanted palpebral fissures, Recurrent oti...	OMIM:300855
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Opisthotonus, Motor stereotypy, Hypertonia	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	Ataxia, Self-injurious behavior, Hearing impairment, Downslanted palpebral fissures, Epicanthus, ...	OMIM:259050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Low-set ears, Highly arched eyebrow, Trichiasis, Self-injurious behavior, Conductive hearing impa...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Low-set ears, Highly arched eyebrow, Trichiasis, Self-injurious behavior, Conductive hearing impa...	ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Low-set ears, Downslanted palpebral fissures, Telecanthus, Epicanthus, Motor stereotypy, Attentio...	OMIM:619522
Pitt-Hopkins Syndrome	Hyperventilation, Failure to thrive	ORPHA:2896
Bethlem Muscular Dystrophy	Hypoventilation	ORPHA:610
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Aspiration, Hypoventilation, Decreased body weight	ORPHA:258
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th...	OMIM:620565
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Fructose-1,6-Bisphosphatase Deficiency	Intermittent hyperventilation	ORPHA:348
Hypermobile Ehlers-Danlos Syndrome	Atypical scarring of skin, Umbilical hernia, Decreased nerve conduction velocity, Cystocele, Ingu...	ORPHA:285
Biotinidase Deficiency	Hyperventilation	ORPHA:79241
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short palpebral fissure, Hearing impairment, Almond-shaped palpebral fissure, Agenesis of corpus ...	ORPHA:508498
Bartter Syndrome, Type 2, Antenatal	Impaired platelet aggregation, Generalized muscle weakness	OMIM:241200
Leprosy	Abnormal seventh cranial physiology, Abnormal autonomic nervous system physiology	ORPHA:548
Autosomal Recessive Malignant Osteopetrosis	Abnormality of temperature regulation, Optic nerve compression, Growth delay, Tremor	ORPHA:667
Norrie Disease	Self-injurious behavior, Abnormal helix morphology, Failure to thrive, Sensorineural hearing impa...	ORPHA:649
Cocaine Intoxication	Hyperventilation, Fever, Tremor	ORPHA:90068
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Failure to thrive, Low-set, posteriorly rotated ears, Upslanted palpebra...	ORPHA:534
Deeah Syndrome	Short stature, Intrauterine growth retardation, Abnormality of temperature regulation, Decreased ...	OMIM:619004
Synaptic Congenital Myasthenic Syndromes	Hypoventilation	ORPHA:98915
Familial Mediterranean Fever	Neutrophilia, Leukocytosis, Splenomegaly, Pericarditis	OMIM:249100
Charcot-Marie-Tooth Disease Type 4C	Failure to thrive, Hypoventilation	ORPHA:99949
Wolf-Hirschhorn Syndrome	Highly arched eyebrow, Small for gestational age, Conductive hearing impairment, Failure to thriv...	OMIM:194190
Proximal Spinal Muscular Atrophy	Hypoventilation	ORPHA:70
Mogs-Cdg	Hypoventilation	ORPHA:79330
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Temperature instability, Hypoventilation	OMIM:619482
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Conductive hearing impairment, Failure to thrive, Abnormal fear-induced ...	ORPHA:353281
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Failure to thrive, Heat intolerance, Camptodactyly of finger, Abnormal dent...	ORPHA:2273
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Otosclerosis, Conductive hearing impairment, Oppositional defiant disor...	ORPHA:580
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Spasticity, Broad-based gait, Lateral ventricle dilatation, Failure to thrive, Impaired pain sens...	ORPHA:261537
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Failure to thrive, Hypoventilation	OMIM:203700
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Highly arched eyebrow, Spasticity, Broad-based gait, Lateral ventricle dilatation, Failure to thr...	ORPHA:261552
Mowat-Wilson Syndrome	Spasticity, Broad-based gait, Conductive hearing impairment, Impaired pain sensation, Horizontal ...	ORPHA:2152
Acute Liver Failure	Hyperventilation, Fever	ORPHA:90062
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired platelet aggregation,...	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	Failure to thrive, Hypoventilation	OMIM:620455
Lowe Oculocerebrorenal Syndrome	Aggressive behavior, Motor stereotypy, Failure to thrive	OMIM:309000
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation	ORPHA:731
Pallister-Killian Syndrome	Hyperventilation, Obesity	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 21.1 Data