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Gene: Ache MGI:87876

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Gene Summary

Name:
acetylcholinesterase
Synonyms:
N/A

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
no spontaneous movement Acheem1(IMPC)Mbp HOM E18.5 0.00
small heart Acheem1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Acheem1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Acheem1(IMPC)Mbp HET E18.5 0.00
increased neutrophil cell number Acheem1(IMPC)Mbp HET Early adult 1.61×10-06
preweaning lethality, incomplete penetrance Acheem1(IMPC)Mbp HOM   Early adult 0.00
hemorrhage Acheem1(IMPC)Mbp HOM E18.5 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body 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.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Peroneus Tertius Muscle, Absence Of
Foot dorsiflexor weakness OMIM:261400
Amyotrophic Lateral Sclerosis 3
Lower limb muscle weakness OMIM:606640
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Mitochondrial Myopathy With A Defect In Mitochondrial-Protein Transport
Muscle weakness OMIM:251945
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Muscle weakness, Gait ataxia ORPHA:401953
Episodic Ataxia, Type 7
Episodic ataxia, Muscle weakness OMIM:611907
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Episodic ataxia, Muscle weakness, Intention tremor OMIM:616055
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Distal muscle weakness, Vocal cord paralysis OMIM:158580
Spastic Paraplegia 42, Autosomal Dominant
Babinski sign, Spastic paraplegia, Spastic gait, Muscle weakness OMIM:612539
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Distal muscle weakness, Fasciculations, Proximal muscle weakness OMIM:182980
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Spasticity, Muscle weakness OMIM:611105
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:619267
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lowe... ORPHA:309169
Spinocerebellar Ataxia Type 38
Tremor, Distal muscle weakness, Gait ataxia ORPHA:423296
Pulmonary Blastoma
Fever, Dyspnea, Recurrent pneumonia, Weight loss, Cough ORPHA:64741
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Ophthalmoparesis OMIM:260540
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal muscle weakness OMIM:614369
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abnormal aut... OMIM:618049
Spinocerebellar Ataxia 38
Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Tuberculosis
Fever, Weight loss, Cough ORPHA:3389
Facial Onset Sensory And Motor Neuronopathy
Fasciculations, Muscle weakness ORPHA:85162
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Monomelic Amyotrophy
Tremor, Fasciculations, Muscle weakness ORPHA:65684
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Narrow palpebral fissure, Inapprop... OMIM:616269
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness OMIM:254100
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Generalized muscle weakness, Choreoathetosi... ORPHA:98810
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:273800
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Generalized muscle weakness, Hand tremor, Periodic paralysis OMIM:609153
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Distal muscle weakness, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait... OMIM:607317
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction 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
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Limb muscle weakness OMIM:607458
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Muscle weakness OMIM:615048
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Clonus, Hypothermia, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Abnorma... OMIM:614498
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne... OMIM:614063
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Chronic Pneumonitis Of Infancy
Respiratory distress, Fever, Intercostal retractions, Reduced forced vital capacity, Tachypnea, H... ORPHA:91359
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
External ophthalmoplegia, Fatigable weakness, Proximal muscle weakness OMIM:254190
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Abnormal eyelid morphology, Tremor, Babinski sign, Spastic... ORPHA:251282
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment ORPHA:217012
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Fasciculations, Muscle weakness OMIM:619141
Developmental And Epileptic Encephalopathy 78
Chorea, Cerebral palsy, Hypothermia, Spasticity OMIM:618557
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Poor coordination, Bruxism, Falls, Inappropriate laughter, D... OMIM:619150
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Distal muscle weakness, Ataxia, Proximal muscle weakness, Tremor, External ophthalmoplegia OMIM:618637
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Hypothermia OMIM:610006
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Poor head control, Myoclonus, Dystonia OMIM:619651
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Abnormal autonomic nervous system physiology, Hypothermia, Myoclonus ORPHA:168593
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Generalized muscle weakness, Paroxysmal dyskinesia... OMIM:606703
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Spinocerebellar Ataxia Type 35
Torticollis, Ophthalmoplegia, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cer... ORPHA:276193
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Spinal Muscular Atrophy, Type Ii
Muscle weakness, Tongue fasciculations, Hand tremor OMIM:253550
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Small for gestational age, Aggressive behavior, Macrotia... OMIM:609425
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Ophtha... ORPHA:101109
Spontaneous Periodic Hypothermia
Abnormal pattern of respiration, Hypothermia ORPHA:29822
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, External ophthalmoplegia, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spast... OMIM:615768
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Migraine, Familial Hemiplegic, 1
Fever, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Barth Syndrome
Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis ORPHA:111
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, D... ORPHA:216873
Fraxe Intellectual Disability
Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Prominent ear helix, Clumsiness, Ste... ORPHA:100973
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Apnea, Hypothermia, Dysplastic testes, Cryptorchidism, Testicular d... OMIM:608800
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Macrophagic Myofasciitis
Fatigue, Generalized muscle weakness, Arthralgia, Myalgia ORPHA:592
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous... ORPHA:329284
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax... ORPHA:157941
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis, Neck muscl... OMIM:613908
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Weight loss, Tip-toe gait, Gai... ORPHA:216866
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... ORPHA:99027
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Lower limb muscle weakn... OMIM:600363
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Hearing impairment OMIM:620270
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia, Respiratory insufficiency OMIM:614654
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... OMIM:617862
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... ORPHA:363710
Combined Oxidative Phosphorylation Deficiency 45
Epicanthus, Ataxia, Tremor, Low-set ears, Failure to thrive OMIM:618951
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... ORPHA:849
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:227510
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Hypothermia, Respiratory insufficiency, Respiratory failure, Failu... OMIM:245400
Baker-Gordon Syndrome
Epicanthus, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious beh... OMIM:618218
Developmental And Epileptic Encephalopathy 97
Tremor, Poor head control OMIM:619561
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Babinski sign, Spastic paraplegia, Abnormal au... ORPHA:139578
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... OMIM:614201
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal muscle weakness, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb muscle weakness, Foot dorsif... OMIM:618387
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia ORPHA:210571
Mohr-Tranebjaerg Syndrome
Tremor, Postlingual sensorineural hearing impairment, Spasticity, Dysphagia, Dystonia, Progressiv... OMIM:304700
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Shoulder girdle muscle weakness, Neck muscle weakness, Proximal muscle weakness OMIM:619477
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea, Hypothermia OMIM:616501
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal... OMIM:617820
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Abnormal repetitive mannerisms... OMIM:613670
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Proximal muscle weakness in lower limbs, Tongue ... ORPHA:276435
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... OMIM:619470
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Dysphagia, Self-inju... OMIM:617695
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior OMIM:617171
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... ORPHA:314978
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical bod... OMIM:309548
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Dysplastic corpus callosum, Inability to walk, Spastic tetraplegia... ORPHA:599373
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Primary Erythromelalgia
Hypothermia ORPHA:90026
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... OMIM:187800
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
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Spastic... OMIM:618718
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Upslanted palpebral fissure, Large fleshy ears, Impaired tactile sen... OMIM:619092
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor function,... OMIM:610743
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle clonus, H... OMIM:617435
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Dysphagia, Gait ataxia, Titubation, Bradykin... ORPHA:225147
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, In... OMIM:302500
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Proximal muscle weakness, Tremor, Gowers sign, Respiratory insufficiency due to mus... OMIM:159950
Ataxia-Pancytopenia Syndrome
Ataxia, Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation, Heat intolerance OMIM:619483
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Abnormal autonomic nervous system phys... ORPHA:97229
Foxg1 Syndrome
Inability to walk, Bruxism, Choreoathetosis, Agenesis of corpus callosum, Hyperkinetic movements,... ORPHA:561854
Tetanus
Fever, Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, ... ORPHA:3299
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia, Recurrent fever OMIM:261630
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Bradykinesia, Dystonia OMIM:128235
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... OMIM:600795
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Fatal Familial Insomnia
Fever, Ataxia, Weight loss, Abnormal autonomic nervous system physiology, Myoclonus OMIM:600072
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia,... OMIM:618093
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Bulbar palsy, Limb muscle weakness, Fasciculations OMIM:313200
Riboflavin Deficiency
Hypothermia OMIM:615026
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Distal muscle weakness, Tremor, Babinski sign, Limb muscle weakness, Hypertonia, Spasticity, Foot... OMIM:609260
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... ORPHA:3095
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss OMIM:605543
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Spasticity OMIM:300983
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia OMIM:617830
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Hypothermia, Large for gestational age ORPHA:226313
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Hypothermia, Hyperventilation OMIM:618775
Amyotrophic Lateral Sclerosis 18
Spasticity, Fasciculations, Muscle weakness OMIM:614808
Amyotrophy, Monomelic
Upper limb muscle weakness, Cold paresis, Fasciculations OMIM:602440
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Intermittent hypothermia, Oculogyric crisis, Babinski ... OMIM:608643
Obesity-Hypoventilation Syndrome
Hypoventilation, Obesity OMIM:257500
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... OMIM:617225
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hypoventilation, Abnormality of temperature regulation, Hypothermia, Recurrent pneumonia, ... OMIM:618493
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclon... ORPHA:139485
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Low-set ears, Difficulty walking, Fa... ORPHA:477673
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Cerebral palsy, Small for gestational age, Hyperactivity, Highly arched eyebrow, Bila... ORPHA:352490
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Mitchell Syndrome
Abnormal autonomic nervous system physiology, Clumsiness OMIM:618960
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Rigidity, Tremor, Unsteady gait, Neuromuscular dysphagia, Blepharospa... ORPHA:240094
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... OMIM:619028
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Small for gestational age, Fail... OMIM:614104
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... OMIM:618917
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness OMIM:159050
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Distal muscle weakness, Ataxia ORPHA:101078
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Gro... ORPHA:70594
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness,... ORPHA:98757
Progressive Nodular Histiocytosis
Fever, Cachexia ORPHA:158022
Menkes Disease
Short stature, Hypothermia, Babinski sign, Hypertonia, Intrauterine growth retardation OMIM:309400
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Postural tremor, Short stature, Babinski sign, Optic atrophy, Dysmetria, Clumsiness, Spas... ORPHA:447896
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex OMIM:601068
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Epicanthus, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Chorea... OMIM:618004
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Charcot-Marie-Tooth Disease And Deafness
Distal muscle weakness, Tremor, Ankle weakness, Limb muscle weakness, Foot dorsiflexor weakness OMIM:118300
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiol... OMIM:300894
Autosomal Recessive Dopa-Responsive Dystonia
Fever, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, ... ORPHA:101150
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Distal muscle weakness, Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive ... ORPHA:504476
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Epicanthus, Hyperactivity, Highly arched eyebrow, Aggressive behavior, Tremor, Abnormal repetitiv... OMIM:618342
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Giant platelets, Macrothrombo... OMIM:155100
Myositis
Proximal muscle weakness OMIM:160750
Amish Nemaline Myopathy
Tremor, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness ORPHA:98902
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Hypothermia ORPHA:95717
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Hyperactivity, Broad-based gait, Parkinsonism, Anorexia, A... ORPHA:3077
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
High-frequency sensorineural hearing impairment, Waddling gait, Tremor, Inability to walk, Sensor... ORPHA:2590
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favora... OMIM:616710
Spinocerebellar Ataxia 50
Ptosis, Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Act... OMIM:620158
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Hearing impairment ORPHA:101075
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia, Muscle weakness OMIM:300619
Proteasome-Associated Autoinflammatory Syndrome 5
Fever, Failure to thrive in infancy OMIM:619175
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, A... ORPHA:275864
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Short stature, Abnormal autonomic nervous sys... ORPHA:369873
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Machado-Joseph Disease
Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb atax... OMIM:109150
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Overweight, Babinski sign, Spastic dysarthria, Difficulty walking, Dystonia, Spast... ORPHA:280763
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex, Myoclonus OMIM:613608
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... ORPHA:71517
Meningococcal Meningitis
Fever, Neonatal respiratory distress, Hypothermia ORPHA:33475
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Spinocerebellar Ataxia Type 36
Ptosis, Ataxia, Babinski sign, Truncal ataxia, Hand tremor, Dysmetria, Limb ataxia, Dysphagia, To... ORPHA:276198
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Roussy-Levy Hereditary Areflexic Dystasia
Distal muscle weakness, Action tremor, Upper limb postural tremor, Gait ataxia OMIM:180800
O'Sullivan-Mcleod Syndrome
Tremor, Cold paresis, Upper limb muscle weakness, Increased circulating antibody level, Fascicula... ORPHA:99965
Infantile Neuroaxonal Dystrophy
Ataxia, Spastic tetraparesis, Flexion contracture, Optic atrophy, Abnormal pyramidal sign, Temper... ORPHA:35069
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, D... ORPHA:98764
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
X-Linked Charcot-Marie-Tooth Disease Type 3
Progressive distal muscle weakness, Tremor, Proximal muscle weakness in lower limbs, Spastic para... ORPHA:101077
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Ophthalmoplegia, Dysmetria, Gait ataxia, Oculomotor apra... ORPHA:1170
Amyotrophic Lateral Sclerosis 8
Distal muscle weakness, Postural tremor, Proximal muscle weakness, Progressive muscle weakness, A... OMIM:608627
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Difficulty walking... ORPHA:306669
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Dystonia, Loss of ambulation OMIM:617916
Cataract-Ataxia-Deafness Syndrome
Ataxia, Short stature, Decreased nerve conduction velocity, Tremor, Hypertonia ORPHA:1368
Leukodystrophy, Hypomyelinating, 12
Flexion contracture, Optic atrophy, Temperature instability, Abnormal autonomic nervous system ph... OMIM:616683
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Synophrys, Macrotia, Abnormal repetitive man... OMIM:615541
Christianson Syndrome
Cachexia, Truncal ataxia, Dysphagia, Gait ataxia, Inappropriate laughter, Dystonia, Macrotia, Abn... ORPHA:85278
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Hypothermia, Over... ORPHA:26793
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Epicanthus, Oral-pharyngeal dysphagia, Tremor, Synophrys, Spastic diplegia, Obesity, Protruding e... ORPHA:480907
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Failure to thrive, Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Babin... OMIM:615157
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Abnormal autonomic nervous syste... OMIM:616840
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Gait ataxia, Abnormal cranial nerv... ORPHA:247234
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Spasti... ORPHA:363722
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Xq28 (MECP2) duplication
Inability to walk, Macrotia, Gait ataxia, Progressive spasticity, Dysphagia, Failure to thrive, A... DECIPHER:45
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Hypothermia OMIM:601005
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Blephar... OMIM:606159
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... ORPHA:442835
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Failure to thrive, Hypothermia, Respiratory insufficiency OMIM:618329
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Bilateral ptosis, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
Spinocerebellar Ataxia, Autosomal Recessive 21
Distal muscle weakness, Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Prominent ear helix, Synophrys, Inability to walk, Large earlobe, Long eyelashes, My... ORPHA:411986
Radio-Tartaglia Syndrome
Tremor, Synophrys, Conductive hearing impairment, Abnormal repetitive mannerisms, Agenesis of cor... OMIM:619312
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... ORPHA:240085
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Fatiguable weakness of proximal limb muscles, Upper limb muscle weakness, Limb fasciculat... ORPHA:90117
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia, Muscle weakness ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... OMIM:168600
Undifferentiated Pleomorphic Sarcoma
Fever, Weight loss ORPHA:2023
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Sensorineural hearing impairment, Babinski sign, Dysmetria, ... OMIM:302800
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Ptosis, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Im... ORPHA:137898
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Proximal muscle weakness, Chorea, Ophthalmoplegia,... ORPHA:401768
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Poor coordination, Obsessive-compulsiv... ORPHA:544254
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Tremor, Gowers sign, Upper limb muscle weakness, Fasciculations, Lower limb muscle weakness ORPHA:209335
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Abnormality of temperature regulation, Camptodactyly of finge... ORPHA:2926
Alexander Disease
Ataxia, Facial palsy, Clonus, Hypothermia, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, ... ORPHA:58
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia OMIM:615282
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Bruxism, Dysphagia, Choreoathetosis, Bilateral sensorineural hearing impairment, ... OMIM:619422
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Dysdi... OMIM:610185
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Abnormal... ORPHA:171695
Infantile Neuronal Ceroid Lipofuscinosis
Poor head control, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, M... ORPHA:79263
Fructose-1,6-Bisphosphatase Deficiency
Fever, Dyspnea, Apnea, Hyperventilation OMIM:229700
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Dysphagia,... OMIM:616795
Hsd10 Disease
Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Gait disturbance, Myoclonus, Spastic parapa... ORPHA:391417
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Epicanthus, Decreased body weight, Ataxia, Pain insensitivity, Rigidity, R... OMIM:300260
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Tachypnea, Pulmonary arterial hypertension, Abnormal posturing, Failure to thrive OMIM:614857
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Action tremor, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyramidal sign, Para... OMIM:607483
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... OMIM:609270
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Posttransplant Acute Limbic Encephalitis
Dystonia, Ataxia, Abnormal autonomic nervous system physiology, Myoclonus ORPHA:163921
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic mo... OMIM:619738
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Arthrogryposis multiplex congenita, Aganglionic megacolon, Abnormal autonomic nervous system phys... OMIM:243180
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Weight loss ORPHA:85447
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal muscle weakness OMIM:607734
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Torticollis, Malignant hyperthermia OMIM:217150
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Hypothermia, Respiratory insufficiency ORPHA:159
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Abnormal pyramidal sign, Neuromuscul... ORPHA:240071
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Muscle weakness OMIM:254950
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Macrotia, Ab... ORPHA:457240
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... OMIM:619317
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Fever, Optic atrophy, Gait ataxia, Progressive cerebellar ataxia, Spasticity, Frequent falls, Int... ORPHA:466794
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Large fleshy ears, Hypertonia, Attention deficit hyperactivity... OMIM:619556
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Epicanthus, Telecanthus, Hyperactivity, Aggressive behavior, Almond-shaped palpebral fissure, Abn... OMIM:620292
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Multicentric Reticulohistiocytosis
Fever, Cachexia ORPHA:139436
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Fever, Hypothermia ORPHA:292
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Abnormal autonomic... OMIM:105210
Crigler-Najjar Syndrome Type 1
Tremor, Oculomotor nerve palsy ORPHA:79234
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Apnea, Hypothermia, Dyspnea, Episodic respiratory distress, Failure to thrive, Hyperventil... ORPHA:255210
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Recurrent fever, Limb hypert... OMIM:233910
Urocanic Aciduria
Action tremor, Ataxia, Truncal ataxia, Gait ataxia ORPHA:210128
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, S... ORPHA:52368
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Hyperactivity, Highly arched eyebrow, Aggressive behavior, Sensorineural hear... OMIM:600430
4Q21 Microdeletion Syndrome
Ptosis, Tremor, Synophrys, Self-injurious behavior, Agenesis of corpus callosum, Long eyelashes, ... ORPHA:238750
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Tremor, Slurred sp... ORPHA:206443
Melkersson-Rosenthal Syndrome
Fever, Abnormal autonomic nervous system physiology, Facial palsy ORPHA:2483
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Perry Syndrome
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest OMIM:168605
Behr Syndrome
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Dysphagia, Gait disturbance, Progressive... OMIM:210000
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Impaired platelet aggregation, Abnormal dense granule content, Thrombocy... OMIM:601399
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Head titubation, Tremor, Inabilit... OMIM:312080
Oculopharyngodistal Myopathy 4
Tremor, External ophthalmoplegia, Distal muscle weakness, Postural tremor OMIM:619790
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Hypothermia ORPHA:95716
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Babinski sign, Pseudobulbar paralysis, Autonomic bladder dysfunction, Spasticity, Autonom... OMIM:169500
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ... OMIM:117360
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Hearing impairment, Action tremor, Impaired distal... OMIM:300623
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Muscle weakness ORPHA:820
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Spastic tetraplegia, Athetosis, Dystonia, Intrauterine growth retardation, Temperature in... OMIM:619922
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Gait ataxia, Upslanted palpebral fissure, Prominent antihelix, Difficulty walki... OMIM:617807
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno... ORPHA:280219
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia, Limb ataxia, Gait ... OMIM:614575
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Epicanthus, Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Poor coordinati... OMIM:618430
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Upslanted palpebral fissure, Lateral ventricle dilatation, Low-set ears, Abnor... OMIM:613443
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Head titubation, Tremor, Rigidity, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Upslanted palpebral fissure, Hypertonia, Macrotia, Abnormal repetitive manneri... OMIM:619877
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Inability to walk, Upslanted palpebral fissure, Large earlobe, Lateral ven... OMIM:615716
Chromosome 5P13 Duplication Syndrome
Epicanthus, Posteriorly rotated ears, Small for gestational age, Blepharophimosis, Upslanted palp... OMIM:613174
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Ataxia, Thrombocytopenia OMIM:603585
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Epicanthus, Ataxia, Aggressive behavior, Almond-shaped palpebral fissure, Self-injurious behavior... OMIM:300986
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Multiple joint contractures, Oromotor apraxia, Optic atrophy, Growth delay, Abnormal autonomic ne... ORPHA:466934
Gray Platelet Syndrome
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha... OMIM:139090
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... ORPHA:101
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Epicanthus, Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Tru... OMIM:617101
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Agenesi... OMIM:312170
Intellectual Developmental Disorder, Autosomal Dominant 34
Epicanthus, Broad-based gait, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Bruxism, ... OMIM:616351
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Tremor, Polyminimyoclonus, First dorsal interossei muscle weakness, Fasci... OMIM:619574
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Fever, Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Progressive external ophthalmoplegia, Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia,... OMIM:208920
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic m... ORPHA:93958
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Apnea, Hypothermia, Tachypnea, Weight loss ORPHA:20
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Rigidity, Tremor, Dysphagia, Bradykinesia, G... OMIM:615530
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... ORPHA:208447
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Rhinitis, Hypothermia ORPHA:230
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Oculopharyngodistal Myopathy 3
Ataxia, Tremor, Ophthalmoplegia, Neck muscle weakness, Limb muscle weakness OMIM:619473
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... OMIM:617013
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Head tremor, Craniofaci... ORPHA:420492
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Unsteady ... OMIM:617865
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Muscle weakness, Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Epicanthus, Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behav... OMIM:619680
Neuronal Intranuclear Inclusion Disease
Tremor, Ataxia, Muscle weakness, Rigidity OMIM:603472
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Slender build, Chorea, Myoclonus, Attention deficit hyperactivity ... OMIM:617600
Trisomy X
Upslanted palpebral fissure, Epicanthus, Tremor, Attention deficit hyperactivity disorder ORPHA:3375
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... OMIM:183090
Leukodystrophy, Hypomyelinating, 6
Ataxia, Short stature, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apr... OMIM:612438
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Downslanted palpebral fissures, Attention def... OMIM:301029
Bernard-Soulier Syndrome
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro... OMIM:231200
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia OMIM:619911
Glutathionuria
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor OMIM:231950
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Aggressive behavior, Underfolded superior helices, Hypertonia, ... OMIM:300352
Brody Disease
Flexion contracture, Fasciculations, Malignant hyperthermia OMIM:601003
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Thin eyebrow OMIM:619690
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... OMIM:146500
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Spinocerebellar Ataxia Type 18
Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor, Hearing impairment ORPHA:98771
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Highly arched eyebrow, Synophrys, Polyphagia, Self-injurious behavior, Abn... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Epicanthus, Pain insensitivity, Aggressive behavior, Tremor, Abnormal repetitive mannerisms, Syno... OMIM:617061
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:616481
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms OMIM:612069
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Agitation, Gait disturbance, Difficulty walking, D... ORPHA:778
Proximal 16P11.2 Microduplication Syndrome
Sparse eyelashes, Sparse eyebrow, Tremor, Microtia, Compulsive behaviors, Attention deficit hyper... ORPHA:370079
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Thrombocytopenia, Dystonia OMIM:615010
Neuroleptic Malignant Syndrome
Fever, Extrapyramidal muscular rigidity, Oculogyric crisis, Hypothermia, Tremor, Chorea, Abnormal... ORPHA:94093
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Epicanthus, Tremor, Hypoesthesia, Sensorineural hearing impairment,... OMIM:619737
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Dystonia, Loss of ambulatio... OMIM:607694
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Interph... OMIM:613870
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Alazami Syndrome
Abnormal eating behavior, Sparse eyebrow, Stereotypical hand wringing, Abnormality of the orbital... ORPHA:319671
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dys... OMIM:619121
Nmda Receptor Encephalitis
Fever, Orthostatic hypotension, Involuntary movements, Oculogyric crisis, Orthostatic tachycardia... ORPHA:217253
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... OMIM:256800
Coffin-Siris Syndrome 6
Epicanthus, Posteriorly rotated ears, Abnormal repetitive mannerisms, Narrow palpebral fissure, T... OMIM:617808
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Tremor, Vocal cord paralysis, Lower... ORPHA:397744
Machado-Joseph Disease Type 1
Abnormality of temperature regulation, Facial-lingual fasciculations, Babinski sign, Vocal cord p... ORPHA:276238
Machado-Joseph Disease Type 2
Abnormality of temperature regulation, Facial-lingual fasciculations, Babinski sign, Vocal cord p... ORPHA:276241
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Epicanthus, Dystonia, Posteriorly rotated ears, Ataxia, Involuntary movements, Prominent crus of ... OMIM:617804
Wild Type Attr Amyloidosis
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... ORPHA:330001
Hereditary Central Diabetes Insipidus
Fever, Growth delay, Weight loss ORPHA:30925
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Sparse eyelashes, Sparse eyebrow, Tremor, Inability to... OMIM:617988
Bleeding Disorder, Platelet-Type, 17
Prolonged bleeding time, Macrothrombocytopenia, Absence of alpha granules, Impaired collagen-indu... OMIM:187900
Spinocerebellar Ataxia Type 13
Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, Clumsiness, Titubatio... ORPHA:98768
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Tremor, Progressive muscle weakness OMIM:605355
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Flexion contracture, Choreoathetosis, Growth delay, Hyperkinetic movements, Hyperton... ORPHA:17
Pyruvate Dehydrogenase Deficiency
Epicanthus, Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Upslanted palpebral fissure,... ORPHA:765
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Repetitive compulsive behavior, Oromotor apraxia, Attention deficit hyperactivity dis... ORPHA:391372
Von Willebrand Disease, Type 3
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:277480
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of... ORPHA:289494
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Hypothermia, Abnormal pattern of respiration ORPHA:31826
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Opist... OMIM:619580
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Poor motor co... ORPHA:363400
Myopathy With Extrapyramidal Signs
Epicanthus, Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormali... OMIM:615673
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Ataxia, Short stature, Babinski sign, Optic atrophy, Abnormal autonomic ... OMIM:231550
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Epicanthus, Exaggerated startle response, Truncal titubation, Tremor, Dysmetria, Gait ataxia, Hyp... OMIM:618056
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Dystonia, Spasticity ORPHA:2828
Orthostatic Hypotension 1
Orthostatic hypotension, Intermittent hypothermia OMIM:223360
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Highly arched eyebrow, Aggressive behavior, Downslanted palpebral fissures, A... OMIM:618825
Autoinflammatory-Pancytopenia Syndrome
Fever, Lipodystrophy, Growth delay, Failure to thrive, Recurrent fever OMIM:619858
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia, Clumsiness, Growth delay, Umbilical hernia, Failure to thrive ORPHA:90674
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Sensorineural hearing impairment, T... OMIM:300957
Rauch-Steindl Syndrome
Attached earlobe, Telecanthus, Epicanthus, Hyperactivity, Highly arched eyebrow, Aggressive behav... OMIM:619695
Cri-Du-Chat Syndrome
Overfriendliness, Epicanthus, Hyperactivity, Abnormal pinna morphology, Small for gestational age... OMIM:123450
Developmental And Epileptic Encephalopathy 46
Tremor, Failure to thrive, Dysphagia, Limb hypertonia OMIM:617162
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity, Foot ... OMIM:616586
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor... ORPHA:206594
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Sensorineural hearing impairment, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Foxg1 Syndrome Due To 14Q12 Microdeletion
Epicanthus, Palpebral edema, Abnormal repetitive mannerisms, Protruding ear, Abnormal antihelix m... ORPHA:261144
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Synophrys, Self hugging, Increased body weight, Head-bang... OMIM:182290
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Chorea, Athetosis, Agen... OMIM:619435
Lamb-Shaffer Syndrome
Hyperactivity, Epicanthus, Ataxia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Uppe... ORPHA:530983
48,Xxyy Syndrome
Epicanthus, Ataxia, Tremor, Obesity, Upslanted palpebral fissure, Attention deficit hyperactivity... ORPHA:10
Haddad Syndrome
Small for gestational age, Failure to thrive, Aganglionic megacolon, Abnormal autonomic nervous s... ORPHA:99803
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Epicanthus, Sparse eyelashes, Posteriorly rotated ears, Highly arched eyebrow, ... OMIM:619293
Pilarowski-Bjornsson Syndrome
Speech apraxia, Almond-shaped palpebral fissure, Abnormal repetitive mannerisms, Long eyelashes, ... OMIM:617682
Nipah Virus Disease
Tremor, Fever, Myoclonus ORPHA:99825
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Wheezing, Recurrent pneumonia, Bronchiectasis, Infertility, Immoti... OMIM:613808
Genetic Transient Congenital Hypothyroidism
Umbilical hernia, Hypothermia ORPHA:226316
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Myoclonus, Muscle weakness, In... OMIM:616505
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Epicanthus, Incoordination, Impaired pain sensation, Gait ataxia, Upslanted palpebral fissure, Lo... OMIM:616579
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Posteriorly rotated ears, Ataxia, Tremor, Overweight, Abnormal repetitive ... OMIM:619229
Menkes Disease
Inguinal hernia, Hypothermia, Chorea, Atypical scarring of skin, Hypertonia, Hernia, Umbilical he... ORPHA:565
Ullrich Congenital Muscular Dystrophy 2
Nocturnal hypoventilation OMIM:616470
Tbck-Related Intellectual Disability Syndrome
Asthma, Hypothermia, Respiratory insufficiency ORPHA:488632
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Dysphagia, Choreoathetosis, Dystonia, Spasticity, Ptosis OMIM:617664
Focal Myositis
Fever, Weight loss ORPHA:48918
Adult-Onset Distal Myopathy Due To Vcp Mutation
Distal muscle weakness, Parkinsonism, Proximal muscle weakness, Tremor, Facial diplegia, Fascicul... ORPHA:329478
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Growth delay, Failure to thrive, Hypothermia OMIM:251880
Alternating Hemiplegia Of Childhood
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... ORPHA:2131
Progressive Supranuclear Palsy
Impulsivity, Rigidity, Tremor, Unsteady gait, Dysphagia, Blepharospasm, Bradykinesia, Falls, Dyst... ORPHA:683
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... ORPHA:98794
Cystathioninuria
External ear malformation, Tremor ORPHA:212
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Almond-shaped palpebral fissure, Epiblepharon, Abnormal repetitive mannerisms, Partial agenesis o... OMIM:619103
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Almond-shaped palpebral fissure, Downslanted palpebral fissures, Abnormal repetit... ORPHA:529965
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Highly arched eyebrow, Babinski sign, Upslanted palpebral fissure, Prominent a... OMIM:615802
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypothermia, Pulmonary embolism, Pulmonary arterial hypertension, Failure t... ORPHA:79282
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Muscle weakness, Dystonia,... OMIM:617710
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Hyperactivity, Aggressive behavior, Abnormal repet... ORPHA:3306
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Epicanthus, Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, ... OMIM:620242
Snijders Blok-Campeau Syndrome
Speech apraxia, Epicanthus, Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hype... OMIM:618205
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Optic nerve hypoplasia, Postnatal growth retardation, Spastic tetrap... ORPHA:300570
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Ataxia, Aggressive behavior, Abnormal repetitive mannerisms... OMIM:300912
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... OMIM:619374
Congenital Myopathy 3 With Rigid Spine
Reduced vital capacity, Restrictive ventilatory defect, Nocturnal hypoventilation, Decreased body... OMIM:602771
Pfapa Syndrome
Abnormality of temperature regulation, Weight loss ORPHA:42642
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Intellectual Developmental Disorder, Autosomal Dominant 38
Epicanthus, Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Downslanted palpe... OMIM:616393
Joubert Syndrome 17
Hyperventilation OMIM:614615
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Epicanthus, Aggressive behavior, Tremor, Synophrys, Congenital ptosis, Gait ataxia, Slanting of t... ORPHA:476126
Machado-Joseph Disease Type 3
Abnormality of temperature regulation, Facial-lingual fasciculations, Babinski sign, Vocal cord p... ORPHA:276244
Coffin-Siris Syndrome 7
Epicanthus, Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Abnormal repetitive ... OMIM:618027
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris... OMIM:610883
Gabriele-De Vries Syndrome
Waddling gait, Telecanthus, Posteriorly rotated ears, Sparse eyebrow, Epiblepharon, Simple ear, T... OMIM:617557
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Highly arched eyebrow, Synophrys, Sensorineural hearing impairment, Lateral ventri... OMIM:617751
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impa... OMIM:153670
Hijazi-Reis Syndrome
Ankle clonus, Lower limb spasticity, Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Abnormality of temperature regulation, Apnea, Central hypoventilation, Hypercapn... OMIM:209880
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Hypoventilation, Central hypoventilation, Hypothermia, Asthma, Obesity, Cardiorespiratory ... ORPHA:293987
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms,... OMIM:212066
Acute Transverse Myelitis
Fever, Orthostatic hypotension, Abnormality of temperature regulation, Paraparesis, Babinski sign... ORPHA:139417
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Apnea, Central hypoventilation, Unexplained fevers OMIM:620167
Joubert Syndrome 8
Obesity, Hyperventilation OMIM:612291
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyrami... OMIM:606002
Migraine, Familial Hemiplegic, 2
Fever, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Galloway-Mowat Syndrome 6
Epicanthus, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight OMIM:618347
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Abnormal autonomic nervous ... ORPHA:93256
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Classic Multiminicore Myopathy
Intermittent episodes of respiratory insufficiency due to muscle weakness, Restrictive ventilator... ORPHA:324604
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Gait disturbance, Myoclonus, Shu... OMIM:168601
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Chédiak-Higashi Syndrome
Ataxia, Parkinsonism, Tremor, Spastic paraplegia, Increased proportion of CD25+ mast cells, Muscl... ORPHA:167
Variant Abeta2M Amyloidosis
Abnormal autonomic nervous system physiology ORPHA:314652
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... OMIM:614298
Hypothyroidism Due To Tsh Receptor Mutations
Umbilical hernia, Hypothermia ORPHA:90673
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordination, Myoclonic spasms... ORPHA:79264
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Myoclonus, Spast... ORPHA:168491
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Lateral ve... OMIM:618914
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... OMIM:620141
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Intellectual Developmental Disorder, Autosomal Recessive 41
Abnormal repetitive mannerisms, Self-injurious behavior, Downslanted palpebral fissures OMIM:615637
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
X-Linked Intellectual Disability, Cabezas Type
Epicanthus, Hyperactivity, Broad-based gait, Cachexia, Aggressive behavior, Tremor, Synophrys, Ab... ORPHA:85293
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Short stature, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Gr... OMIM:614381
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... OMIM:607876
Bainbridge-Ropers Syndrome
Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Abnormal repetitive mannerisms, Syno... OMIM:615485
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Asymmetry of the ears, Overweight, Synophrys, Sensorine... OMIM:617796
Optic Atrophy-Intellectual Disability Syndrome
Epicanthus, Repetitive compulsive behavior, Protruding ear, Upslanted palpebral fissure, Abnormal... ORPHA:401777
Ddost-Cdg
Lipodystrophy, Short stature, Tremor, Oromotor apraxia, Failure to thrive ORPHA:300536
Late-Onset Familial Hypoaldosteronism
Fever, Failure to thrive, Orthostatic hypotension, Postnatal growth retardation ORPHA:556037
Pure Autonomic Failure
Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:441
Hypothyroidism, Congenital, Nongoitrous, 2
Stridor, Hypothermia OMIM:218700
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Phelan-Mcdermid Syndrome
Epicanthus, Broad-based gait, Palpebral edema, Hearing impairment, Impaired pain sensation, Aggre... OMIM:606232
Combined Oxidative Phosphorylation Defect Type 29
Poor coordination, Myoclonic spasms, Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Sneddon Syndrome
Tremor, Decreased circulating total IgM, Hemiplegia, Facial palsy OMIM:182410
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Paraplegia, Agitation, Failure to thrive, Abnormal repetitive mannerisms ORPHA:927
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... OMIM:614074
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, A... OMIM:234200
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Pain insensitivity, Small earlobe, Posteriorly rotated ears, Ataxia, Broad-based ... OMIM:617330
22Q11.2 Duplication Syndrome
Ptosis, Epicanthus, Abnormal repetitive mannerisms, Anterior creases of earlobe, Compulsive behav... ORPHA:1727
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Sensorineural hearing impairment, Obesity, Choreoathetosis, Attention deficit hyp... ORPHA:261197
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Epicanthus, Abnormal location of the eyebrow, Ataxia, Almond-shaped palpebral fissure, Repetitive... ORPHA:522077
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Long eyelashes, Bilateral conductive hearing impairment, Low-set ears, Dysphag... OMIM:617802
Tay-Sachs Disease
Exaggerated startle response, Incoordination, Dystonia, Hip flexor weakness, Distal muscle weakne... ORPHA:845
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Bruxism, Protruding ear, Athetosis, Apraxia, Spasticity, Abno... OMIM:613454
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Short stature, Elbow flexion contracture, Knee flex... OMIM:601559
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Synophrys, Ataxia, Head tremor OMIM:619428
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Orthostatic hypotension due to autonomic dysfunction, Hypothermia, Corneal scarring, A... ORPHA:642
Ullrich Congenital Muscular Dystrophy 1
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Nocturnal hypoventil... OMIM:254090
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology OMIM:243000
Hyperlysinemia
Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic di... ORPHA:2203
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t... ORPHA:72
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... ORPHA:33543
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,... OMIM:610042
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Oculo... ORPHA:220497
Developmental And Epileptic Encephalopathy 66
Abnormal repetitive mannerisms, Synophrys, Downslanted palpebral fissures, Broad-based gait OMIM:618067
Erythermalgia, Primary
Abnormal autonomic nervous system physiology OMIM:133020
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Synophrys, Macrotia, Abnormal repetitive mannerisms ORPHA:391307
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Distal muscle weakness, Proxi... ORPHA:466768
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Sparse eyebrow, Tetraplegia, Dysphagia, Upslanted palpebral fissure, Fasciculations, Prog... ORPHA:496641
Rett Syndrome
Apnea, Cachexia, Intermittent hyperventilation OMIM:312750
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
5Q14.3 Microdeletion Syndrome
Upslanted palpebral fissure, Abnormal repetitive mannerisms, Thick eyebrow ORPHA:228384
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Optic nerve hypoplasia, Hypothermia, Overweight, Growth delay, Umbilical hernia ORPHA:226307
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Porphyria Variegata
Scarring, Respiratory paralysis, Abnormal autonomic nervous system physiology, Tetraparesis ORPHA:79473
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Ataxia, Muscle weakness ORPHA:713
Macrocephaly-Developmental Delay Syndrome
Palpebral edema, Abnormal repetitive mannerisms, Narrow palpebral fissure, Self-injurious behavio... ORPHA:397612
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Intrauterine growth retardation, Failure to thrive,... ORPHA:453499
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... ORPHA:2388
Vici Syndrome
Epicanthus, Sensorineural hearing impairment, Low-set ears, Dysphagia, Abnormal posturing, Failur... OMIM:242840
Sarcoidosis
Fever, Hypothermia, Dyspnea, Pneumothorax, Bronchiectasis, Upper airway obstruction, Weight loss,... ORPHA:797
Smith-Magenis Syndrome
Failure to thrive in infancy, Impaired pain sensation, Synophrys, Obesity, Upslanted palpebral fi... ORPHA:819
Joubert Syndrome 35
Oculomotor apraxia, Abnormality of temperature regulation, Ataxia OMIM:618161
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Facial palsy, Paralysis, Tremor, Abnormal glossopharyngeal nerve ... ORPHA:297
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Lateral ventricle dilatation, Downslanted palpebral f... ORPHA:457279
Fabry Disease
Delayed puberty, Abnormal autonomic nervous system physiology, Fasciculations OMIM:301500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Synophrys, Protruding ear, Hypertonia, Tics, Compulsive behaviors, Decreased body weight,... OMIM:619475
Ganglioneuroma
Central hypoventilation ORPHA:251992
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Hyperventilation ORPHA:98784
Trisomy 20P
Inguinal hernia, Incoordination, Camptodactyly of finger, Abnormal autonomic nervous system physi... ORPHA:261318
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Inability to walk, Sensorineural hearing impairment, Self-injurious behavi... ORPHA:457351
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fever, Panniculitis, Weight loss ORPHA:86884
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive ... OMIM:616364
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Spasticity, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Clumsiness, Compulsive behaviors, Attention deficit hyperactivity disorder, Blepharophimo... OMIM:615656
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Dysphagia, Athetosis, Latera... ORPHA:572798
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Pseudohypoparathyroidism Type 1A
Involuntary movements, Choreoathetosis, Abnormal platelet function, Myoclonic spasms, Laryngeal d... ORPHA:79443
Encephalitis Lethargica
Fever, Hyperventilation ORPHA:83600
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Dysdiadocho... OMIM:617675
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Reduced forced vital capacity, Restrictive ventilatory defect, Nocturnal hypoventilation OMIM:607155
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Agita... OMIM:607485
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Oculo... ORPHA:220493
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Abnormality of temperature regulation... ORPHA:90321
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal size of the palpebral fissures, Highly arched eyebrow, Congenital sensorineural hearing ... ORPHA:500159
3P25.3 Microdeletion Syndrome
Epicanthus, Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Attention d... ORPHA:435638
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules OMIM:614075
Charcot-Marie-Tooth Disease Type 4B2
Tremor, Inability to walk, Sensorineural hearing impairment, Vocal cord paralysis, Distal sensory... ORPHA:99956
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Exaggerated startle response, Apnea, Hypothermia, Breathing dysregulation, Crypt... ORPHA:438213
Megalocornea-Intellectual Disability Syndrome
Epicanthus, Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Protruding ... ORPHA:2479
Childhood Absence Epilepsy
Hyperventilation ORPHA:64280
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Romano-Ward Syndrome
Abnormal autonomic nervous system physiology ORPHA:101016
Serotonin Syndrome
Fever, Clonus, Tremor, Rigidity, Hypertonia, Myoclonus, Abnormality of the autonomic nervous system ORPHA:43116
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Ataxia, Oral-pharyngeal dysphagia, Tremor, Synophrys, Nasolacrimal duct obstruction, Spastic dipl... OMIM:300966
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Al Amyloidosis
Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto... ORPHA:85443
Ramos-Arroyo Syndrome
Severe short stature, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decrea... ORPHA:1051
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Broad-based gait, Palpebral edema, Posteriorly rotated ears, Ataxia, Ag... OMIM:614756
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Epicanthus, Failure to thrive, Posteriorly rotated ears, Hyperactivity, Almond-shaped palpebral f... OMIM:619512
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Synophrys, Obesity, Upslanted palpebral fissure, ... OMIM:610253
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Tetraparesis ORPHA:85277
Cystinosis
Abnormal pyramidal sign, Gait disturbance, Polydipsia, Failure to thrive, Abnormal repetitive man... ORPHA:213
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Atypical scarring of skin,... ORPHA:198
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Impaired vibrat... ORPHA:447753
Joubert Syndrome
Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Low-set ears, Oculomotor apraxia, Ptosis ORPHA:475
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Temperatu... OMIM:619482
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia ORPHA:324636
Cholera
Fever, Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Synophrys, Dysphagia, Protruding ear,... ORPHA:447997
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Wiedemann-Steiner Syndrome
Epicanthus, Telecanthus, Thick eyebrow, Hyperactivity, Aggressive behavior, Synophrys, Long eyela... ORPHA:319182
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Telecanthus, Upslanted palpebral fissure, Agenesis of corpus callosum, Attention deficit hyperact... OMIM:620073
Renal Nutcracker Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss ORPHA:71273
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Spasticity, Abnormal repetitive mannerisms, Involuntary movements, Dysphagia ORPHA:572013
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Wolfram Syndrome 1
Ataxia, Tremor, Sensorineural hearing impairment, Dysphagia, Ptosis OMIM:222300
Marburg Hemorrhagic Fever
Fever, Nonproductive cough, Hypothermia ORPHA:99826
Stüve-Wiedemann Syndrome
Short stature, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Knee flex... ORPHA:3206
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... OMIM:601104
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Unsteady ga... ORPHA:96121
Noonan Syndrome
Muscle weakness, Abnormal platelet function ORPHA:648
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Failure to thrive in infancy, Obesity OMIM:620155
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Small for gestational age, Tremor, Low-set ears, Neonatal death, Failure to thrive, Inten... OMIM:614052
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic paraplegia, Dysmetria, S... OMIM:618527
Malignant Hyperthermia, Susceptibility To, 5
Fever, Malignant hyperthermia OMIM:601887
Pitt-Hopkins Syndrome
Incoordination, Cupped ear, Gait ataxia, Upslanted palpebral fissure, Self-injurious behavior, Th... OMIM:610954
Kleefstra Syndrome
Highly arched eyebrow, Aggressive behavior, Synophrys, Obesity, Upslanted palpebral fissure, Self... ORPHA:261494
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Houge-Janssens Syndrome 3
Self-injurious behavior, Epicanthus, Abnormal repetitive mannerisms, Attention deficit hyperactiv... OMIM:618354
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Dystonia, Ataxia, Proximal muscle weakness, Tremor, Gowers sign, Chorea, Athetosi... OMIM:615356
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Obesity, Upslanted palpebral fissure, Compulsive behaviors... ORPHA:1001
Helsmoortel-Van Der Aa Syndrome
Ectropion of lower eyelids, Eyelid coloboma, Compulsive behaviors, Abnormal repetitive mannerisms... OMIM:615873
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Thrombocytopenia, Abnormal platelet function, Abnormal platelet morphology ORPHA:906
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Ataxia, Facial palsy, Proximal muscle weakness, Tremor, External ophthalm... OMIM:164310
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation OMIM:620275
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Lateral vent... OMIM:619575
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Generalized muscle weakness, Facial palsy, Clonus OMIM:619424
Ataxia-Telangiectasia
Conjunctival telangiectasia, Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, ... OMIM:208900
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Addictive behavior, Tip-toe gait, Gait disturbance, Decerebrate r... ORPHA:512
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Myocarditis, Leukocytosis, Splenomegaly ORPHA:829
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Epicanthus, Posteriorly rotated ears, Large for gestational age, Tremor, Cupped ear, Spasticity, ... OMIM:614080
Developmental And Epileptic Encephalopathy 2
Hyperventilation OMIM:300672
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Cntnap2-Related Developmental And Epileptic Encephalopathy
Intermittent hyperventilation, Obesity ORPHA:163681
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Epicanthus, Telecanthus, Posteriorly rotated ears, Pain insensitivity, Broad-based g... OMIM:620330
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Abnormal pyramidal sign, Abnormality of the orbital region, Up... ORPHA:468631
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Joubert Syndrome 6
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia OMIM:610688
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Small for gestational age, Hearing impairment, Abnormal ... OMIM:309590
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Bilateral sensorineural hearing im... ORPHA:66634
Wolfram Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology, Ataxia, Delayed puberty ORPHA:3463
Cocaine Intoxication
Respiratory distress, Fever, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... OMIM:608233
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... ORPHA:646
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Niemann-Pick Disease, Type C2
Ataxia, Dysphagia, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mannerisms OMIM:607625
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Impaired pain sensation, Long eyelashes, Attention deficit hyperactivity d... OMIM:619005
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Hypertonia, Abnormal repetitive mannerisms ORPHA:79155
Van Esch-O'Driscoll Syndrome
Impulsivity, Unilateral vocal cord paralysis, Protruding ear, Upslanted palpebral fissure, Microt... OMIM:301030
Transketolase Deficiency
Self-injurious behavior, Conjunctivitis, Compulsive behaviors, Attention deficit hyperactivity di... ORPHA:488618
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Epicanthus, Highly arched eyebrow, Obesity, Narrow palpebral fissure, Low-set ears, Difficulty wa... OMIM:618653
Kinsship Syndrome
Spastic tetraparesis, Synophrys, Myoclonus, Low-set ears, Bruxism, Long palpebral fissure, Failur... OMIM:619297
Intellectual Developmental Disorder, Autosomal Dominant 57
Failure to thrive, Hyperventilation OMIM:618050
Sitosterolemia 1
Giant platelets, Impaired platelet aggregation, Thrombocytopenia OMIM:210250
Beta-Thalassemia
Abnormality of temperature regulation ORPHA:848
Gabriele-De Vries Syndrome
Waddling gait, Telecanthus, Lacrimal duct stenosis, Posteriorly rotated ears, Small for gestation... ORPHA:506358
Arboleda-Tham Syndrome
Epicanthus, Dystonia, Lacrimal duct stenosis, Posteriorly rotated ears, Highly arched eyebrow, Un... OMIM:616268
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Apnea, Hyperventilation OMIM:617799
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure ORPHA:610
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
White-Sutton Syndrome
Hyperactivity, Incoordination, Posteriorly rotated ears, Aggressive behavior, Sensorineural heari... ORPHA:468678
Lambert-Eaton Myasthenic Syndrome
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunction ORPHA:43393
Developmental And Epileptic Encephalopathy 100
Synophrys, Chorea, Gait ataxia, Choreoathetosis, Myoclonus, Dysphagia, Abnormal repetitive manner... OMIM:619777
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation, Decreased body weight OMIM:300749
Triosephosphate Isomerase Deficiency
Tremor, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Dystonia, ... OMIM:615512
Mgat2-Cdg
Decreased circulating IgG level, Impaired platelet aggregation, Decreased circulating antibody level ORPHA:79329
Pitt-Hopkins Syndrome
Failure to thrive, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Failure to thrive, Respiratory insufficiency ORPHA:99949
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Prader-Willi Syndrome Due To Translocation
Almond-shaped palpebral fissure, Obesity, Head-banging, Upslanted palpebral fissure, Lateral vent... ORPHA:177907
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Epicanthus, Posteriorly rotated ears, Highly arched eyebrow,... OMIM:619325
Prader-Willi Syndrome
Hypoventilation, Failure to thrive in infancy, Obesity, Abdominal obesity, Temperature instability OMIM:176270
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Sensorineural hearing impairment, Dysphagia, Hypertonia, Dystonia, Neonatal death... OMIM:617248
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Epicanthus, Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, S... OMIM:301040
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea ORPHA:79330
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... ORPHA:513456
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Epicanthus, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Synoph... OMIM:301066
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Ulnar-Mammary Syndrome
Abnormality of temperature regulation, Short stature, Camptodactyly of finger, Obesity, Delayed p... ORPHA:3138
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Ophthalmoparesis, Episodic flaccid weakness, Respiratory paralysi... ORPHA:79102
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lymphatic leu... ORPHA:3243
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Epicanthus, Hemiplegia/hemiparesi... ORPHA:1606
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Epicanthus, Highly arched eyebrow, Tremor, Synophrys, Sensorineural hearing impairment, Protrudin... OMIM:612474
Acute Liver Failure
Fever, Abnormal respiratory system physiology, Hypocapnia, Abnormal pattern of respiration, Hyper... ORPHA:90062
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Small for gestational age, Macrotia, Protruding ear, Gait disturbance, Failure to ... ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Protruding ear, Gait disturbance, Attention deficit hyperactivity diso... ORPHA:464311
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation, Abnormal dental enamel morphology ORPHA:1334
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Unilateral ptosis, Posteriorly rotated ears, Highly arched eyebrow, Spastic tetraparesis, Abnorma... OMIM:301044
Ogden Syndrome
Epicanthus, Torticollis, Abnormal eyelid morphology, Sparse eyebrow, Bilateral ptosis, Abnormal r... OMIM:300855
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Hypertonia, Abnormal repetitive mannerisms, Opisthotonus ORPHA:508533
Primrose Syndrome
Restlessness, Epicanthus, Calcification of the auricular cartilage, Ataxia, Hearing impairment, A... OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Epicanthus, Telecanthus, Posteriorly rotated ears, Exaggerated startle response, Abnormal repetit... OMIM:619522
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Hypoventilation, Failure to thrive OMIM:203700
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Trichiasis, Highly arched eyebrow, Aggressi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Trichiasis, Highly arched eyebrow, Aggressi... ORPHA:353277
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Autosomal Recessive Malignant Osteopetrosis
Tremor, Optic nerve compression, Abnormality of temperature regulation, Growth delay ORPHA:667
Leprosy
Abnormality of the seventh cranial nerve, Abnormal autonomic nervous system physiology ORPHA:548
Bartter Syndrome, Type 2, Antenatal
Generalized muscle weakness, Impaired platelet aggregation OMIM:241200
Norrie Disease
Failure to thrive, Clonus, Cachexia, Sensorineural hearing impairment, Protruding ear, Abnormal c... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Almond-shaped palpebral fissure, Agenesis of corpus callosum, Abnormal repetit... ORPHA:508498
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Clonus, Protruding ear, Upslanted palpebral fissure, Self-inju... ORPHA:534
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Pericarditis, Neutrophilia OMIM:249100
Deeah Syndrome
Intrauterine growth retardation, Abnormality of temperature regulation, Short stature, Decreased ... OMIM:619004
Wolf-Hirschhorn Syndrome
Epicanthus, Abnormal pinna morphology, Small for gestational age, Highly arched eyebrow, Sensorin... OMIM:194190
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Omphalocele, Inguinal hernia, Abnormality of temperature regulation, Aganglionic megacolon, Campt... ORPHA:2273
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Mucopolysaccharidosis Type 2
Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Sensorineural hearing impairment, ... ORPHA:580
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax ORPHA:731
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Telecanthus, Broad-based gait, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensatio... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Epicanthus, Telecanthus, Posteriorly rotated ears, Broad-based gait, Highly arched eyebrow, Uplif... ORPHA:261552
Mowat-Wilson Syndrome
Telecanthus, Broad-based gait, Posteriorly rotated ears, Ataxia, Uplifted earlobe, Impaired pain ... ORPHA:2152
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired neutrophil chemotaxis... ORPHA:2968
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Pallister-Killian Syndrome
Apneic episodes in infancy, Obesity, Hyperventilation OMIM:601803

Histopathology

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

There is no histopathology data for Ache

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
Acheem1(IMPC)Mbp Intra-exon deletion Mice, Tissue

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