Gene Summary

Name:
serine/arginine repetitive matrix 4
Synonyms:
flopsy,  bv,  fp,  1500001A10Rik,  B230202K19Rik,  nSR100

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Srrm4tm1e(EUCOMM)Wtsi HOM   Early adult 0.00
tremors Srrm4tm1e(EUCOMM)Wtsi HOM   Early adult 1.35×10-05

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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 Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

X-ray

XRay Images Forepaw

17 Images

X-ray

XRay Images Skull Lateral Orientation

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

Legacy Phenotype Associated Images

View all 100 images

Human diseases caused by Srrm4 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 Srrm4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor OMIM:619491
Glutathionuria
Tremor OMIM:231950
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity ORPHA:401840
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Cerebellar Ataxia And Albinism
Ataxia, Head tremor OMIM:258300
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Ataxia, Spasticity, Abnormal auditory evoked potent... ORPHA:99852
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Abn... ORPHA:231169
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231183
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... OMIM:601382
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Lower limb spasticity... ORPHA:320401
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Phosphoserine Aminotransferase Deficiency
Hypertonia, Apnea, Myoclonus, Cyanotic episode, Death in infancy, Secondary microcephaly OMIM:610992
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Cyanosis, Hemiparesis, Chorea, Central ... ORPHA:71277
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Babinski sign, Hypoplasia of the corpus callosum, Spastic paraplegia,... OMIM:613162
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Hydrocephalus, Ataxia, Microcephaly, Cortical dysplasia, Abnormal corpus callos... OMIM:618709
Pendred Syndrome
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... ORPHA:705
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Par... OMIM:604213
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... OMIM:125250
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Progressiv... ORPHA:240103
Parkinson Disease 17
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Dystonia 23
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia OMIM:614860
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Leukoencephalopathy with metaphyseal chondrodysplasia
Leukoencephalopathy, Babinski sign, Spastic paraplegia, Diffuse cerebral atrophy, Abnormal cerebr... OMIM:300660
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Jerky head movements, Spastic dysarthria,... ORPHA:251282
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Spinocerebellar atrophy, Impaired vibration sensation in the lower... ORPHA:95433
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Spastic diplegia, Motor stereotypy, Hypsarrhythmia OMIM:617830
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impa... OMIM:601596
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Postural tremor ORPHA:210571
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Brain atrophy, Overfolded helix, Myoclon... OMIM:619092
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Hydrocephalus, Microcephaly, Optic atrophy, Tremor, Spastic tetraparesis, Simpl... OMIM:619470
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... ORPHA:420485
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Dysplastic corpus callosum, Microcephaly, Tetraparesis, Spasticity, Tongue fasciculations... OMIM:618276
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria ORPHA:171703
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Distal sensory impairment, Decreased nerve conduction velocity, Abnormal audi... OMIM:601455
Dystonia 24
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor OMIM:615034
Spinocerebellar Ataxia, X-Linked 1
Intention tremor, Ataxia, Action tremor OMIM:302500
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Respiratory distress, Death in infancy OMIM:616341
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Ataxia, Opisthotonus, Cyanosis, Inspiratory stridor, Syringomyel... OMIM:207950
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Tremor, P... OMIM:617862
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Paraparesis, Hydrocephalus, Ataxia, Apnea, Aqueductal stenosis, Opisthotonus, C... ORPHA:1136
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Brain atrophy, Tremor, Spasticity, Low-set ears OMIM:618718
Hereditary Methemoglobinemia
Temporal cortical atrophy, Small basal ganglia, Hypertonia, Frontal cortical atrophy, Microcephal... ORPHA:621
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Acroparesthesia, Upper motor ... ORPHA:206443
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... OMIM:609136
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Abnormal corpus striatum morphology, Involuntary... ORPHA:238329
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... ORPHA:99027
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Dystonia 7, Torsion
Torticollis, Oromandibular dystonia, Clumsiness, Blepharospasm, Hand tremor, Writer's cramp, Tors... OMIM:602124
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve cond... ORPHA:65684
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Blepharospasm, Torsion dystonia OMIM:224500
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity OMIM:615768
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... ORPHA:454887
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... OMIM:270500
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity, Respiratory insuffici... OMIM:612069
Huntington Disease-Like 1
Abnormal basal ganglia morphology, Cerebral cortical atrophy, Clumsiness, Poor fine motor coordin... ORPHA:157941
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Muscular Hypertonia, Lethal
Respiratory distress, Hypertonia, Death in infancy, Pneumonia OMIM:254120
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... OMIM:604326
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Microcephaly, Acrocyanosis OMIM:302000
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Microcephaly, Cortical dysplasia, Polymicrogyria, Hypoplasia of the... OMIM:615282
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia OMIM:605909
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Abnormality of extrapyramidal motor function, Chorea, Athetosis, Progressive extrapyramid... ORPHA:382
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Impaired proprioception, C... ORPHA:101085
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Macrotia OMIM:615541
Adult Krabbe Disease
Hemiplegia, Ataxia, Acroparesthesia, Clumsiness, EEG abnormality, Hoffmann sign, Babinski sign, T... ORPHA:206448
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonus, Limb myoclonus, Abnormal lower motor neuron morphology, Tremor, Frequent f... ORPHA:2590
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia OMIM:610245
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Tremor, Ataxia OMIM:619099
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Band Heterotopia
Hydrocephalus, Polymicrogyria, Spasticity, Subcortical band heterotopia, Agenesis of corpus callosum OMIM:600348
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Hypsarrhythmia, Macrotia, Hearing impairment OMIM:619877
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Myoclonus, Facial palsy, Tongue fasciculations, Frequent fal... OMIM:159950
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Microcephaly, Stereotypical hand wringing, Apneic episodes in infancy, Spastici... ORPHA:500545
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity ORPHA:363710
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti... ORPHA:500166
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Ataxia, Limb ataxia, Poor coordination, Spasticity, Macrotia OMIM:617695
Christianson Syndrome
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Truncal ata... ORPHA:85278
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Gorham-Stout Disease
Torticollis, Hearing impairment, Abnormality of the internal auditory canal ORPHA:73
Huntington Disease-Like 3
Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormali... ORPHA:157946
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking, Optic disc drusen OMIM:204000
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Dystonia OMIM:128235
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Hypoplasia of the corpus callosum, Abnormal mucociliary clearance, Lissence... OMIM:619466
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia OMIM:615010
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... ORPHA:70589
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Macrotia, Anteverted ears, Abnormalit... ORPHA:544254
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Pachygyria OMIM:606053
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Degeneration of anterior horn cells, Respiratory insufficiency, Abnormal an... ORPHA:1145
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia OMIM:261630
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Motor stereotypy, Cerebral atrophy, Cerebellar atrophy OMIM:619690
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia, Dyst... OMIM:619150
Foxg1 Syndrome
Motor stereotypy, Myoclonus, Abnormal respiratory system physiology, Hyperkinetic movements, Ster... ORPHA:561854
Pontocerebellar Hypoplasia, Type 15
Hypertonia, Hydrocephalus, Partial agenesis of the corpus callosum, Spastic tetraplegia, Death in... OMIM:619302
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Dilata... ORPHA:1435
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor OMIM:210000
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Microcephaly, Cerebral atrophy, Spasticity OMIM:617393
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Involuntary movem... OMIM:617820
Crouzon Syndrome
Optic atrophy, Conductive hearing impairment, Hearing impairment, Narrow internal auditory canal ORPHA:207
Parkinson Disease 21
Tremor, Rigidity, Bradykinesia, Parkinsonism OMIM:616361
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Cerebral atrophy, Large basal ganglia, Microcephaly, Cortical dysplasia, Polymi... ORPHA:88616
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Gait ataxia, Spasticity, Dystonia OMIM:617807
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Parkinsonism with favorable response to dopaminergic medication, Bradykines... ORPHA:240085
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Incoordination OMIM:213200
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Facial palsy, Respiratory insufficiency, Abnormal motor nerve conduction ve... OMIM:614399
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Motor stereotypy, Myoclonus, Hypsarrhythmia, Multifocal epile... ORPHA:411986
Autism
Motor stereotypy, EEG abnormality OMIM:209850
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality OMIM:608636
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
EEG abnormality, Recurrent hand flapping, Cerebral atrophy, Macrotia OMIM:617268
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... OMIM:113650
Snijders Blok-Campeau Syndrome
Motor stereotypy, Low-set ears, Speech apraxia OMIM:618205
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Abnormal pinna morphology, Ataxia, Cerebral cortical atrophy, Stereotypical han... OMIM:614104
Episodic Ataxia Type 4
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo ORPHA:79136
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... OMIM:301310
Developmental And Epileptic Encephalopathy 107
Progressive microcephaly, Microcephaly, Motor stereotypy OMIM:620033
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Brain atrophy, Tremor, Low-se... OMIM:618342
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Brain atrophy, Cerebral atrophy, Tetraparesis, Optic di... OMIM:619260
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy, Morphological abn... ORPHA:87
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... OMIM:164500
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Dystonia OMIM:606438
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Recurrent hand flapping OMIM:620021
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Aspirat... ORPHA:90117
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypertonia, Microcephaly, Optic atrophy, Dystonia ORPHA:26792
Xq28 (MECP2) duplication
Progressive spasticity, Gait ataxia, Motor stereotypy, Macrotia DECIPHER:45
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior, Low-set... ORPHA:352490
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Head titubation, Diffuse cerebral atro... ORPHA:3240
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia OMIM:618093
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Basal ganglia gliosis, Death in infancy, Neuronal loss in basal ganglia OMIM:604377
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... OMIM:201050
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Smith-Magenis Syndrome
Motor stereotypy, EEG abnormality, Impaired pain sensation, Morphological abnormality of the midd... OMIM:182290
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Dystonia ORPHA:324588
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Hyperkinetic movements, Choreoathetosis, Involuntary m... OMIM:618218
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Rigidity, Optic atr... ORPHA:33445
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Cryptogenic Organizing Pneumonia
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... ORPHA:1302
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis, Dystonia OMIM:261640
Mucolipidosis Iv
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly, Babinski sign, Optic atrophy, ... OMIM:252650
Benign Familial Infantile Epilepsy
Hypertonia, Cyanosis, Apnea, Limb myoclonus ORPHA:306
Spinocerebellar Ataxia 15
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor OMIM:606658
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Bradykinesia, Resting tremor OMIM:614251
Folinic Acid-Responsive Seizures
Respiratory distress, Hypertonia, Ataxia, Apnea, Chorea, Optic atrophy, Spastic tetraparesis, Fro... ORPHA:79097
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Microcephaly, Abnormal pyramidal sign, Optic atrophy, Abnormal cerebral white matter morp... OMIM:614947
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Gaucher Disease Type 2
Respiratory distress, Cough, Spasticity, Abnormal pattern of respiration, Dystonia ORPHA:77260
4Q21 Microdeletion Syndrome
Motor stereotypy, Hearing impairment, Low-set ears, Tremor ORPHA:238750
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... ORPHA:397946
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... OMIM:606703
Fragile X Syndrome
Recurrent hand flapping, Abnormal head movements, Macrotia OMIM:300624
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia,... OMIM:617145
Parkinson-Dementia Syndrome
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism OMIM:260540
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Leukoencephalopathy, Intention tremor, Abnormal motor neuron morphology, Head tremor OMIM:613724
Intellectual Developmental Disorder With Autism And Macrocephaly
Clumsiness, Posteriorly rotated ears, Recurrent hand flapping OMIM:615032
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia OMIM:612716
3-Methylglutaconic Aciduria, Type Viii
Hypertonia, Apnea, Cerebral atrophy, Hypoplasia of the corpus callosum, Tremor, Death in infancy,... OMIM:617248
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Cerebral cortical atrophy, Cerebral atrophy, Bilateral conductive hearing impai... OMIM:617802
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity OMIM:619028
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Synotia, Low-set, posteriorly rotated ears, Narrow internal au... ORPHA:990
Atypical Rett Syndrome
Episodic tachypnea, Hand apraxia, Pill-rolling tremor, Stereotypical hand wringing, Tongue thrust... ORPHA:3095
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Microcephaly, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal dystonia OMIM:245348
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Microcephaly, Respiratory failure ORPHA:1832
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Ataxia, Tremor ORPHA:1368
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Tremor, Macrotia, Upper limb spasticity ORPHA:457240
Hsd10 Disease, Infantile Type
Abnormal basal ganglia morphology, Cerebral atrophy, Poor coordination, Spastic diplegia, Microce... ORPHA:391428
N-Acetylaspartate Deficiency
Motor stereotypy, Microcephaly, Truncal ataxia OMIM:614063
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Cerebral cortical atrophy, Microcephaly, Babinski sign, Hypoplasia of the corpu... ORPHA:280763
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... ORPHA:206436
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Urocanic Aciduria
Ataxia, Action tremor, Truncal ataxia, Gait ataxia ORPHA:210128
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Perching Syndrome
Respiratory distress OMIM:617055
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... OMIM:610706
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Opisthotonus, Microcephaly, Cyanosis, Exertional dyspnea OMIM:250800
Distal Monosomy 10Q
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... ORPHA:96148
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... OMIM:619751
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f... ORPHA:2302
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Macrotia OMIM:618504
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Japanese Encephalitis
Respiratory distress, Abnormal substantia nigra morphology, Tremor, Cogwheel rigidity, Dystonia, ... ORPHA:79139
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia OMIM:617435
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... ORPHA:453521
Coffin-Siris Syndrome 6
Motor stereotypy, Conductive hearing impairment, Tics, Low-set, posteriorly rotated ears OMIM:617808
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Ataxia, Clumsiness, Ankle clonus, Knee clonus, Facial palsy, Respiratory in... OMIM:211530
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Hypertonia, Ataxia, Cerebral atrophy, Microcephaly, Myoclonus, Spasticity OMIM:618426
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Apnea, Dysplastic corpus callosum, Babinski sign, Abnormal cortical gyration... ORPHA:2524
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, EEG abnormality, Stereotypical hand wringing, Chorea OMIM:618760
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c... ORPHA:91359
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Cerebral white matter atrophy, Optic atrophy, Death in infancy, Neonatal re... OMIM:615042
Developmental And Epileptic Encephalopathy 42
Hypertonia, Ataxia, Tremor, Athetosis OMIM:617106
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Apnea, Ataxia, Recurrent hand flapping, Opisthotonus, Microcephaly, Limb hypert... OMIM:619580
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Dysmetria OMIM:618090
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Optic atrophy, Tremor, Spas... OMIM:300983
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Incoordination, Dystonia OMIM:618049
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, EEG abnormality OMIM:239500
Cerebral Creatine Deficiency Syndrome 2
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... OMIM:612736
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:619738
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity, Myoclonus OMIM:616494
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis, Limb myoclonus, Clonus ORPHA:1949
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:139485
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Ataxia, Gait ataxia, Dysmetria OMIM:618387
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Bradykinesia, Hypoplasia of the corpus callosum,... OMIM:614924
Laryngeal Abductor Paralysis
Microcephaly, Stridor, Vocal cord paralysis, Cyanosis OMIM:150260
Tick-Borne Encephalitis
Abnormality of the vestibular nerve, Abnormal autonomic nervous system physiology, Facial palsy, ... ORPHA:297
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Epis... OMIM:301790
Hsd10 Disease
Ataxia, Focal white matter lesions, Spastic paraparesis, Microcephaly, Myoclonus, Rigidity, Optic... ORPHA:391417
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypertonia, Myoclonus, Hypoplasia of the corpus callosum, Cyanotic episode, Lateral ventricle dil... ORPHA:284417
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Facial palsy, Frontalis m... OMIM:300580
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Optic Atrophy-Intellectual Disability Syndrome
Protruding ear, Abnormal helix morphology, Optic nerve hypoplasia, Optic atrophy, Spasticity, Rep... ORPHA:401777
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Hearing impairment OMIM:616351
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Intention tremor, Microcephaly, Truncal ataxia, Hypoplasia of the corpus callosum, Abnormal cereb... OMIM:614407
D-Glyceric Aciduria
Sensorineural hearing impairment, Cerebral cortical atrophy, Opisthotonus, Optic nerve hypoplasia... OMIM:220120
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic moveme... OMIM:619317
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia ORPHA:329284
Myopathy And Diabetes Mellitus
Frequent falls, Babinski sign, Progressive cerebellar ataxia, Respiratory distress ORPHA:2596
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Head titubation, Tre... OMIM:618877
Intellectual Developmental Disorder, X-Linked 109
Microcephaly, Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Microcephaly, Hypoplasia of the corpus callosum OMIM:300934
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, B... ORPHA:794
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neonatal death, Tachyp... OMIM:610921
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Apnea, Clumsiness, Episodic tachypnea, Cerebral atrophy, Poor fine motor coordi... ORPHA:79264
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Dysplastic corpus callosum, Hemiparesis, Tremor, Optic disc pallor, Secondary microce... OMIM:619737
Coffin-Siris Syndrome 7
Motor stereotypy, Low-set ears, Recurrent otitis media, Macrotia, Hearing impairment, Posteriorly... OMIM:618027
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Intellectual Developmental Disorder, Autosomal Dominant 48
Sensorineural hearing impairment, Low-set ears, Motor stereotypy, Recurrent otitis media OMIM:617751
Nipah Virus Disease
Respiratory distress, Tremor, Myoclonus, Cough ORPHA:99825
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... ORPHA:500159
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Cerebral cortical atrophy, Exaggerated startle response, Microcephaly, Myoc... OMIM:618201
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Lateral ventricle dilatat... ORPHA:306669
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Clumsiness, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Postural tremor, Dystonia OMIM:619911
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the ear, EEG abnormality, Oromotor apraxia, Hypoplastic helices, Spasticity, Repet... ORPHA:391372
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatomical site, Abnorma... ORPHA:99750
Potocki-Lupski Syndrome
Motor stereotypy, Hearing impairment, EEG abnormality OMIM:610883
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Brain atrophy, Gait ataxia, Impaired pain sensation, Incoordination, Low-set ears OMIM:616579
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia OMIM:233910
Rett Syndrome, Congenital Variant
Motor stereotypy, Protruding ear, EEG abnormality, Tongue thrusting, Chorea, Athetosis, Spasticit... OMIM:613454
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... OMIM:265120
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Encephalopathy, Ethylmalonic
Ataxia, Petechiae, Babinski sign, Focal T2 hyperintense basal ganglia lesion, Death in infancy, A... OMIM:602473
Joubert Syndrome 23
Apnea, Dysplastic corpus callosum, Tachypnea OMIM:616490
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... ORPHA:139431
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus c... ORPHA:89844
Atypical Juvenile Parkinsonism
Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Rigidity, Gait ataxia, Involunt... ORPHA:391411
Dravet Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Myoclonus, Rigidity, Parkinsonism, Cya... ORPHA:33069
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ataxia, Optic atrophy, Tremor, Telangiectasia, Secondary microcephaly OMIM:608799
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Hypertonia, Ataxia, Apnea, Central hypoventilation, Basal ganglia gliosis, ... ORPHA:70474
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Pain insensitivity, Rigidity, Chorea, Progressive spasticity, Repetitiv... OMIM:300260
Primary Dystonia, Dyt4 Type
Torticollis, Respiratory distress, Blepharospasm, Laryngeal dystonia, Dysdiadochokinesis, Upper l... ORPHA:98805
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia ORPHA:101075
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Cerebral atrophy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity,... OMIM:618917
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia ORPHA:289916
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Clumsiness, Bradykinesia, Hand tremor, Resting tremor, Ankle clonus, Pill-rolling... OMIM:612953
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Microcephaly, Abnormal pyramidal sign, Polymi... OMIM:614833
Primary Pulmonary Hypoplasia
Apnea, Asthma, Microcephaly, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictiv... ORPHA:2257
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Cerebral atrophy, Death in childhood, Optic atrophy, Tremor, Choreoathetosis, Posterior a... OMIM:619422
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Myoclonus OMIM:614018
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Triosephosphate Isomerase Deficiency
Respiratory distress, Cerebral atrophy, Respiratory insufficiency, Death in adolescence, Tremor, ... OMIM:615512
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Oxygen desaturation on exertion, Respiratory distress, Ataxia, Asthma, Crackles, Tachypnea, Wheez... OMIM:610978
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Leukoencephalopathy, Ataxia, Death in childhood, Myelopathy, Rigidity, Bradypnea, Te... OMIM:617186
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity OMIM:614307
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Speech apraxia... ORPHA:261197
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Ataxia, Clumsiness, Cavum septum pellucidum, Intention tremor, Micr... ORPHA:209905
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Macrotia ORPHA:391307
Alazami Syndrome
Motor stereotypy, Low-set ears, Stereotypical hand wringing ORPHA:319671
Hydroxykynureninuria
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment ORPHA:79155
Leber Congenital Amaurosis 2
Optic disc pallor, Eye poking OMIM:204100
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Cyanosis, Respiratory insufficiency, In... OMIM:610913
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration, Craniofacial dystonia, Frequent falls, Diaphragmat... OMIM:620011
Tetanus
Respiratory distress, Hypertonia, Opisthotonus, Abnormal autonomic nervous system physiology, Rig... ORPHA:3299
4H Leukodystrophy
Striatal T2 hyperintensity, Ataxia, Dysmetria, Dysdiadochokinesis, Hypoplasia of the corpus callo... ORPHA:289494
Dilated Cardiomyopathy With Ataxia
Ataxia, Action tremor, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Repetitive co... ORPHA:66634
22Q11.2 Duplication Syndrome
Motor stereotypy, Hearing impairment, Anterior creases of earlobe ORPHA:1727
Cri-Du-Chat Syndrome
Motor stereotypy, Hypertonia, Abnormal pinna morphology, Stenosis of the external auditory canal,... OMIM:123450
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... ORPHA:264675
Noonan Syndrome
Thickened helices, Sensorineural hearing impairment, Aplasia of the semicircular canal, Low-set, ... ORPHA:648
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, EEG abnormality, Ataxia ORPHA:2479
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Cerebral cortical atrophy, Dysmetria, Babinski sign, Hypoplasia of the corpus callosum, D... OMIM:607694
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Limb hypertonia, Oculogyric crisis, Rigidity, Cerebral palsy, Tremor, Dystonia ORPHA:70594
Multiple Carboxylase Deficiency
Respiratory distress, Ataxia, Spastic paraparesis, Tachypnea, Optic atrophy, Spinal cord posterio... ORPHA:148
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Ataxia, Cerebral atrophy, Myoclonus, Abnormal pyramidal sign... ORPHA:363400
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Large basal ganglia, Hypoplasia of the corpus callosum, Polymicrogyria, Primary microcephaly, Spa... ORPHA:300570
Neurodegeneration With Brain Iron Accumulation 4
Oromandibular dystonia, Ataxia, Babinski sign, Parkinsonism, Abnormal pyramidal sign, Abnormal lo... OMIM:614298
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination OMIM:608768
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Motor stereotypy, EEG abnormality, EEG with frontal sharp slow ... ORPHA:457351
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Abnormal hea... ORPHA:247815
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... ORPHA:60032
Oromandibular Dystonia
Torticollis, Respiratory distress, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Hyperkine... ORPHA:93958
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor ORPHA:2004
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia OMIM:614831
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Tremor, Macrotia, Abnormality of peri... ORPHA:90321
Cerebrotendinous Xanthomatosis
Paraparesis, Ataxia, Axonal degeneration, Abnormality of extrapyramidal motor function, Babinski ... ORPHA:909
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Spastic paraplegia, Corticospinal t... OMIM:307000
Radio-Tartaglia Syndrome
Large earlobe, Low-set ears, Conductive hearing impairment, Ataxia, Motor stereotypy, Tremor, Hea... OMIM:619312
Riboflavin Transporter Deficiency
Sleep apnea, Ataxia, Cerebral cortical atrophy, Abnormal autonomic nervous system physiology, Myo... ORPHA:97229
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Cerebral cortical atrophy, Optic atrophy, Progressive spasti... ORPHA:496641
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Low-set ears OMIM:613174
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Ataxia, Intention tremor, Microcephaly, Abnormal pyramidal sign, Progres... OMIM:312080
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia ORPHA:101078
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Leukoencephalopathy, Cerebral atrophy, Microcephaly, Oculogyric crisis, Hypopla... ORPHA:178469
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology ORPHA:50251
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... ORPHA:99
Spinocerebellar Ataxia 42
Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, Spastic gait, Spastic ataxia OMIM:616795
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Ataxia, Titubation, Dysmetria OMIM:619405
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Chorea, Athetosis, Macrotia OMIM:619435
Otofaciocervical Syndrome 1
Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Hypoplasia of the cochlea OMIM:166780
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Protruding ear, Motor stereotypy ORPHA:261144
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Low-set, posteriorly rotated ears ORPHA:3306
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Myelitis, Tachypnea, Cough, Pneumothorax,... ORPHA:454836
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Acute Interstitial Pneumonia
Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, Bronchiecta... ORPHA:79126
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Ogden Syndrome
Torticollis, Hypertonia, Cerebral atrophy, Abnormal head movements, Macrotia, Low-set ears ORPHA:276432
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypertonia, Cerebral cortical atrophy, Cerebral atrophy, Opisthotonus, Micr... OMIM:619272
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia ORPHA:1170
Intellectual Developmental Disorder, X-Linked, Syndromic 13