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Gene: Srrm4 MGI:1916205

Gene Summary

Name:

serine/arginine repetitive matrix 4

Synonyms:

flopsy, bv, fp, 1500001A10Rik, B230202K19Rik, nSR100

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
tremors		Srrm4^{tm1e(EUCOMM)Wtsi}	HOM		Early adult	1.35×10^-05
preweaning lethality, incomplete penetrance		Srrm4^{tm1e(EUCOMM)Wtsi}	HOM		Early adult	0.00

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X-ray

XRay Images Whole Body Lateral Orientation

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Legacy Phenotype Associated Images

Srrm4^{tm1e(EUCOMM)Wtsi}
WT, Female, WTSI

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Srrm4^{tm1e(EUCOMM)Wtsi}
HOM, Female, WTSI

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.

Human diseases associated with Srrm4 (0 diseases)
Human diseases predicted to be associated with Srrm4 (958 diseases)

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	Matching phenotypes	Source
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
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
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
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
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,...	OMIM:616515
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
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
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
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
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
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
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d...	ORPHA:52368
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,...	OMIM:300614
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis...	OMIM:601382
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Usher Syndrome Type 1	Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop...	ORPHA:231169
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia	ORPHA:231183
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration	ORPHA:3233
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Ravine Syndrome	Anorexia, Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Cochlear degeneration, Hearing impairment	OMIM:271250
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
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
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Microcephaly, Hydrocephalus, Cortical dysplasia, Attention deficit hyperactivity disorder...	OMIM:618709
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis, Ataxia, Dystonia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hyper...	ORPHA:71277
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s...	ORPHA:240103
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Microcephaly, Hydrocephalus, Op...	OMIM:619470
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
Autosomal Recessive Spastic Paraplegia Type 44	Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i...	ORPHA:320401
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia...	OMIM:609425
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Hypoplasia of...	OMIM:604213
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Pendred Syndrome	Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th...	ORPHA:705
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju...	ORPHA:382
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Spastic Paraplegia 45, Autosomal Recessive	Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Optic atrop...	OMIM:613162
Stxbp1-Related Encephalopathy	Hyperactivity, Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Spastic...	ORPHA:599373
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
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy...	ORPHA:251282
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Bruxism, Self-injurious behavior, EEG abnormality, Brain atrophy, Low-set ...	OMIM:618718
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
7Q31 Microdeletion Syndrome	Hyperactivity, Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-...	ORPHA:251061
Spinocerebellar Ataxia Type 38	Tremor, Gait ataxia	ORPHA:423296
Chiari Malformation Type Ii	Cyanosis, Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopath...	OMIM:207950
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea, Hypertonia, Secondary microcephaly, Myoclonus, Cyanotic episode	OMIM:610992
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly	ORPHA:171703
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Ataxia, Optic atrophy, Abnormal auditory evoked pot...	OMIM:125250
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ...	ORPHA:314978
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Ataxia, Microcephaly, Respiratory insufficiency due to muscle weakness, Dysplastic corpus callosu...	OMIM:618276
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia	OMIM:617830
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness, Babinski sign, D...	OMIM:612069
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ...	OMIM:604326
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v...	OMIM:601455
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms	OMIM:615541
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
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
Perching Syndrome	Respiratory distress, Cyanosis, Dysphagia	OMIM:617055
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Migraine, Familial Hemiplegic, 1	Tremor, Hemiplegia, Ataxia, Hemiparesis	OMIM:141500
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Huntington Disease-Like 1	Abnormal head movements, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred spe...	ORPHA:157941
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Compulsive behaviors, Abno...	ORPHA:500166
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:300425
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Brain atrophy, Low-se...	OMIM:619092
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Hand tremor, Gait ataxia, Hypoplasia of the corpus callosum, Dysphagia, Recurrent hand flapping, ...	OMIM:617862
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Death in childhood, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Thin corpus cal...	OMIM:619651
Hereditary Methemoglobinemia	Cyanosis, Microcephaly, Spastic tetraplegia, Temporal cortical atrophy, Athetosis, Hypertonia, Fr...	ORPHA:621
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Involuntary movements, Respiratory insufficiency, Tongue fasciculations, Ab...	ORPHA:238329
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se...	OMIM:620317
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Microcephaly, Cortical dysplasia, Spastic tetraplegia, Self-injurious behavior, Hypertonia, Secon...	OMIM:615282
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Dystonia, Cerebral atrophy, Choreoathetosis, Bruxism, Conductive hearing impairment, Stereotypica...	OMIM:618497
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:607373
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Dysphagia, Choreoathetosis, Bilateral ...	OMIM:619422
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy, Abnormal repetitive mannerisms	OMIM:616341
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia, Torticollis	ORPHA:71518
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements, Chorea, Involuntary movements	OMIM:616939
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
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Reduced cerebral white matter volume, Microcephaly, Spastic paraplegia, Spa...	OMIM:617977
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations	OMIM:615048
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro...	ORPHA:95433
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Ataxia, Aggressive behavior, Microcephaly, Chorea, Poor coordination, Bruxism, Inappropriate laug...	OMIM:619150
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Bullous Dystrophy, Hereditary Macular Type	Microcephaly, Acrocyanosis, Death in childhood	OMIM:302000
Christianson Syndrome	Cerebellar atrophy, Dystonia, Dysphagia, Gait ataxia, Neuronal loss in central nervous system, In...	ORPHA:85278
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, EEG abnormality, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible...	OMIM:608636
Foxg1 Syndrome	Abnormal repetitive mannerisms, Abnormal respiratory system physiology, Bruxism, Choreoathetosis,...	ORPHA:561854
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R...	ORPHA:101085
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Tremor,...	ORPHA:2590
Urocanase Deficiency	Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul...	ORPHA:65684
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Hypertonia, Pneumonia	OMIM:254120
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag...	OMIM:609136
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Involuntary movements, Self-injurious behavior, Hypoplasia of the corpus callosum, Dystonia, Spas...	OMIM:617820
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Bruxism, Protruding...	OMIM:618342
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior	OMIM:617171
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem...	ORPHA:1215
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Diaphragmatic paral...	OMIM:614399
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Lissencephaly, Hypoplasia o...	OMIM:619466
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Facial palsy, Respiratory insufficiency due to muscle weakness, Tremor, Degeneration of anterior ...	OMIM:159950
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive...	OMIM:619690
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Ataxia, Inappropriate laughter, Thickened helices, Macr...	OMIM:614104
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Self-biting, Recurrent hand flapping, Macrotia	OMIM:300624
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Nonproductive cough, ...	ORPHA:1302
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
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial...	ORPHA:71517
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Dentici-Novelli Neurodevelopmental Syndrome	Macrotia, Abnormal repetitive mannerisms, Hypsarrhythmia, Hearing impairment	OMIM:619877
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Rigidity, Tremor, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinso...	ORPHA:240085
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Huntington Disease-Like 3	Abnormal head movements, Caudate atrophy, Extrapyramidal muscular rigidity, Chorea, Abnormal pyra...	ORPHA:157946
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Adult-Onset Autosomal Dominant Leukodystrophy	Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor,...	ORPHA:99027
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Pontocerebellar Hypoplasia, Type 11	Ataxia, Limb ataxia, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia...	OMIM:617695
Gorham-Stout Disease	Torticollis, Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem...	ORPHA:206443
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia	ORPHA:324588
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor	OMIM:620158
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly, Aggressive behavior, Overfriendliness	OMIM:618010
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Crouzon Syndrome	Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment	ORPHA:207
Lopes-Maciel-Rodan Syndrome	Caudate atrophy, Tremor, Abnormal pyramidal sign, Bruxism, Dysphagia, Cerebral atrophy, Bradykine...	OMIM:617435
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Hsd10 Disease, Infantile Type	Restlessness, Diffuse cerebral atrophy, Cyanosis, Spastic tetraparesis, Microcephaly, Poor coordi...	ORPHA:391428
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Thin corpus callosum	OMIM:620270
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Ataxia, Impulsivity, Aggressive behavior, Microcephaly, Tongue thrusting, Opisth...	OMIM:619580
Branchiootorenal Syndrome 1	Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch...	OMIM:113650
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Sudden episodic apnea, Episodic tachypnea, Involuntary movements,...	ORPHA:3095
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus	OMIM:613608
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Smith-Magenis Syndrome	Hyperactivity, Impaired pain sensation, Abnormality of the outer ear, Self hugging, Head-banging,...	OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r...	OMIM:617270
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Abnormal anterior horn cell morphology, Respiratory insufficiency, Degenera...	ORPHA:1145
Apert Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc...	ORPHA:87
Gaucher Disease Type 2	Respiratory distress, Cough, Dysphagia, Dystonia, Spasticity, Abnormal pattern of respiration	ORPHA:77260
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Hypoplasia of the corpus callo...	OMIM:300983
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Abnormality of the seventh c...	ORPHA:90117
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ...	OMIM:620021
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Obsessive-compulsive trait, ...	ORPHA:544254
Xq28 (MECP2) duplication	Macrotia, Abnormal repetitive mannerisms, Dysphagia, Gait ataxia	DECIPHER:45
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Parkinsonism With Polyneuropathy	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:619279
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte...	OMIM:619751
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe, Occipital...	ORPHA:411986
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Optic Atrophy 11	Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Optic...	OMIM:617302
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Apnea, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic cor...	ORPHA:2524
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural...	OMIM:619260
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia	OMIM:616881
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ...	OMIM:620292
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms	OMIM:239500
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Cortical dysplasia, Oromotor apraxia, Dysgenesis of the basal gangl...	ORPHA:300573
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi...	ORPHA:352490
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Intellectual Developmental Disorder With Autism And Speech Delay	Pachygyria, Abnormal repetitive mannerisms	OMIM:606053
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Dystonia, Chorea, Self-injurious behavior, Bruxism, Macrotia, Abnormal repet...	OMIM:618004
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Microcephaly, Optic atrophy, Hypertonia, Dystonia	ORPHA:26792
4Q21 Microdeletion Syndrome	Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment	ORPHA:238750
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Optic atrophy, Gait ataxia, Prominent antihelix, Dystonia, Abnormal repetitive mannerisms	OMIM:617807
Lissencephaly Due To Tuba1A Mutation	Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs o...	ORPHA:171680
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Cerebral atrophy, Bilateral conductive hearing impairment, Interictal epilept...	OMIM:617802
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Spastic tetraparesis, Simplified gyral pattern, Lateral ventricle dilatation, Hypertonia, Lissenc...	ORPHA:284417
Benign Familial Infantile Epilepsy	Hypertonia, Limb myoclonus, Cyanosis, Apnea	ORPHA:306
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv...	OMIM:617808
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-in...	OMIM:600430
Developmental And Epileptic Encephalopathy 110	Pain insensitivity, Chorea, Low-set ears, Bruxism, Continuous spike and waves during slow sleep, ...	OMIM:620149
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
N-Acetylaspartate Deficiency	Microcephaly, Secondary microcephaly, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutila...	OMIM:614063
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a...	ORPHA:275864
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Facial palsy, D...	OMIM:211530
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc...	OMIM:619725
Episodic Ataxia Type 4	Abnormal head movements, Vertigo, Ataxia	ORPHA:79136
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Tethered cord, Impulsivity, Aggressive behavior, Microcephaly, Myelomeningocele, F...	OMIM:620141
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Cerebral atrophy, Spinocerebellar tr...	OMIM:617916
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea, Ataxia, Spastic tetraparesis, Chorea, Optic atrophy, Frontotemporal ...	ORPHA:79097
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Microcephaly, Choreoathetosis, Dystonia, Oculo...	OMIM:245348
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Urocanic Aciduria	Action tremor, Ataxia, Truncal ataxia, Gait ataxia	ORPHA:210128
Laryngeal Abductor Paralysis	Cyanosis, Microcephaly, Vocal cord paralysis, Stridor, Dysphagia	OMIM:150260
Japanese Encephalitis	Decreased motor nerve conduction velocity, Respiratory distress, Anorexia, Tremor, Opisthotonus, ...	ORPHA:79139
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa...	OMIM:615157
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Microcephaly	ORPHA:1832
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Xq21 Microdeletion Syndrome	Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op...	ORPHA:1435
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol...	ORPHA:990
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Premature graying of hair, Subcortical cerebral atrophy,...	ORPHA:33445
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Choreoathetosis, Self-injurious behavior, Hyperkinetic movements, ...	OMIM:618218
Mucolipidosis Iv	Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski sign, Optic atrophy, ...	OMIM:252650
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ...	ORPHA:2004
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms, Progressive microcephaly, Microcephaly	OMIM:620033
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def...	OMIM:613670
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, B...	ORPHA:329284
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Severe Intellectual Disability And Progressive Spastic Paraplegia	Microcephaly, Babinski sign, Spastic dysarthria, Hypoplasia of the corpus callosum, Dystonia, Abn...	ORPHA:280763
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Abnormal repetitive mannerisms, Hearin...	OMIM:610883
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle...	ORPHA:3240
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Dravet Syndrome	Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine m...	ORPHA:33069
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition...	OMIM:600795
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia	ORPHA:306669
Oromandibular Dystonia	Respiratory distress, Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Hyper...	ORPHA:93958
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Abnormal repetitive mannerisms, Low-set ears	OMIM:613443
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
Coffin-Siris Syndrome 7	Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio...	OMIM:618027
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cerebral white matter atro...	OMIM:615042
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Distal Deletion 10Q	Ataxia, Aggressive behavior, Congenital sensorineural hearing impairment, Cochlear malformation, ...	ORPHA:96148
Optic Atrophy-Intellectual Disability Syndrome	Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h...	ORPHA:401777
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Microcephaly, Diffuse white matter abnormalities, S...	ORPHA:208447
Hsd10 Disease	Ataxia, Microcephaly, Tremor, Rigidity, Optic atrophy, Dysphagia, Choreoathetosis, Frontotemporal...	ORPHA:391417
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Chorea, Cerebral atrophy, Gait ataxia, Self-injurious behavior, Progressive microcephaly, Compuls...	OMIM:618917
Nipah Virus Disease	Respiratory distress, Anorexia, Tremor, Myoclonus, Cough	ORPHA:99825
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Brain-Lung-Thyroid Syndrome	Respiratory distress, Chorea, Abnormal drinking behavior, Choreoathetosis, Compulsive behaviors, ...	ORPHA:209905
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Apnea, Parkinsonism, Episodic tachypnea, Poor motor coordination, Dysphagia, C...	ORPHA:79264
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Bruxism, Hearing impairment	OMIM:616351
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypopl...	ORPHA:89844
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Facial palsy, Frontalis m...	OMIM:300580
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Neurogenic bladder, Involuntary movements, Optic nerve hy...	ORPHA:572013
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-s...	OMIM:618430
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Restrictive ventilatory defect, Respir...	ORPHA:98913
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Microcephaly, Opisthotonus, Hypertonia, Exertional dyspnea	OMIM:250800
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif...	OMIM:610921
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ...	ORPHA:50251
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r...	OMIM:617751
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300934
Alazami Syndrome	Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty...	ORPHA:319671
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic...	ORPHA:79263
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Limb myoclonus, Apnea, Clonus	ORPHA:1949
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia	OMIM:619911
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor	OMIM:610185
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Microcephaly, Simplified gyral pattern, Truncal ataxia, Abnormal cerebral white matter morphology...	OMIM:614407
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Ataxia, Tremor, Cerebral atrophy, Respiratory failure, Dysphagia	OMIM:618637
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, L...	OMIM:123450
Primary Dystonia, Dyt4 Type	Respiratory distress, Torticollis, Generalized dystonia, Involuntary movements, Upper limb postur...	ORPHA:98805
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficien...	OMIM:614299
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor...	ORPHA:250972
22Q11.2 Duplication Syndrome	Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno...	ORPHA:1727
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Tremor, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress,...	OMIM:312170
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory...	OMIM:265120
Epilepsy, Progressive Myoclonic, 6	Tremor, Ataxia, Myoclonus	OMIM:614018
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia, Overfolded helix,...	OMIM:617101
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Cyanosis, Aggressive behavior, Dysplas...	ORPHA:488627
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m...	ORPHA:500159
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe...	ORPHA:3306
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Choreoathetosis, Dystonia	OMIM:612126
Saethre-Chotzen Syndrome	Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop...	ORPHA:794
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Rigidity, Dysmetria, Gait ataxia	OMIM:618090
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, ...	OMIM:614298
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Exaggerated startle response, Clonus, Microcephaly, Myoclonus, Spasticity, ...	OMIM:618201
Myopathy And Diabetes Mellitus	Respiratory distress, Progressive cerebellar ataxia, Frequent falls, Babinski sign	ORPHA:2596
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Microcephaly, Asthma, Tachypnea, Pneumothorax, Hy...	ORPHA:2257
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Tremor, Dysplastic corpus callosum, Hemiparesis, Hypertonia, Secondary microce...	OMIM:619737
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Torticollis, Cerebral white matter atrophy, Ataxia, Tremor, Myelopathy, Rigidity, L...	OMIM:617186
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:300495
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Large earlobe, Low-set ears, Dysphagia, Conduct...	OMIM:619312
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myoclonus, Head tremor,...	ORPHA:420492
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Hyperactivity, Facial-lingual fasciculations, Cerebral calcificatio...	OMIM:617281
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Repetitive compulsive behavior, Chorea, Dysphagia, Low-set ears, Brux...	OMIM:300260
Tetanus	Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Abnormal autonomic n...	ORPHA:3299
Rett Syndrome, Congenital Variant	Dystonia, Chorea, Tongue thrusting, Protruding ear, Athetosis, EEG abnormality, Bruxism, Abnormal...	OMIM:613454
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Gait ataxia, Brain atrophy, Low-set ears, Abnormal repetitive mannerisms...	OMIM:616579
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses...	OMIM:617796
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Secondary microcephaly, Spasticity, Abnormal repetitive mannerisms, Cerebral atrophy	OMIM:617393
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Restlessness, Dystonia, Apnea, Parkinsonism, Ataxia, Microcephaly, Tremor, Babins...	OMIM:300055
4H Leukodystrophy	Ataxia, Tremor, Optic atrophy, Dysmetria, Dysphagia, Striatal T2 hyperintensity, Progressive gait...	ORPHA:289494
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, Attention deficit hypera...	ORPHA:391372
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti...	OMIM:619435
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Joubert Syndrome 23	Dysplastic corpus callosum, Tachypnea, Apnea	OMIM:616490
Jeavons Syndrome	Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with...	ORPHA:139431
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Death in early adulthood, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetri...	OMIM:607694
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Impaired tac...	ORPHA:206448
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperactivity, Caudate atrophy, Ataxia, Poor motor coordinat...	ORPHA:363400
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Polymicrogyria	OMIM:616974
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D...	OMIM:617061
Encephalopathy, Ethylmalonic	Death in infancy, Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Focal T2 h...	OMIM:602473
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ...	ORPHA:449291
Glutathionuria	Tremor, Asthma, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor	OMIM:231950
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Dystonia, Ataxia, Crackles, Asthma, Tachypne...	OMIM:610978
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy...	ORPHA:264675
Developmental And Epileptic Encephalopathy 6B	Ataxia, Chorea, Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Chor...	OMIM:619317
Tick-Borne Encephalitis	Somatic sensory dysfunction, Facial palsy, Anorexia, Tremor, Vertigo, Abnormal cranial nerve morp...	ORPHA:297
Spinocerebellar Ataxia With Epilepsy	Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys...	ORPHA:254881
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia	ORPHA:289916
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis	OMIM:614831
Noonan Syndrome	Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin...	ORPHA:648
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Tremor, Respiratory insufficiency, ...	ORPHA:97229
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Neuronal loss in basal ganglia, Cerebral atrophy, Limb dy...	OMIM:604377
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia...	ORPHA:36238
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Microcephaly, Tremor, Head...	OMIM:312080
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ataxia, M...	OMIM:618426
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ataxia, Tremor, Optic atrophy, Telangiectasia, Secondary microcephaly	OMIM:608799
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct...	ORPHA:206436
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait	OMIM:616795
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
Leukoencephalopathy With Calcifications And Cysts	Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl...	ORPHA:542310
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro...	ORPHA:247815
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhythmia, Self-injurio...	ORPHA:457351
Mercury Poisoning	Respiratory distress, Anorexia, Tremor, Dyspnea, Abnormal cerebral white matter morphology, Respi...	ORPHA:330021
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Aicardi-Goutieres Syndrome 1	Intracerebral periventricular calcifications, Dystonia, Microcephaly, Basal ganglia calcification...	OMIM:225750
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:1170
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Hypsarrhythmia, Stereotypical b...	OMIM:300912
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ...	ORPHA:300570
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Abnormal pyramidal sign, Lissen...	OMIM:614833
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with...	ORPHA:397612
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Proximal 16P11.2 Microdeletion Syndrome	Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Dyst...	ORPHA:261197
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyrami...	ORPHA:2131
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron...	ORPHA:137914
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Diaphragmatic paralysis, Paradoxical respiration, Frequent falls, Craniofac...	OMIM:620011
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner...	OMIM:618914
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Anorexia, Optic atrophy, Choreoathetosis, Dystonia	ORPHA:79312
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear...	OMIM:616393
Diaphanospondylodysostosis	Respiratory distress, Myelomeningocele	ORPHA:66637
Megalocornea-Intellectual Disability Syndrome	Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal repetitive ma...	ORPHA:2479
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r...	OMIM:613174
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms	ORPHA:530983
Otofaciocervical Syndrome 1	Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea	OMIM:166780
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Triosephosphate Isomerase Deficiency	Respiratory distress, Optic disc pallor, Death in infancy, Dystonia, Respiratory insufficiency du...	OMIM:615512
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ...	OMIM:617013
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Ataxia, Microcephaly, Paraplegia, Agitation, Abnormal repetitive mannerisms	ORPHA:927
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Abnormal neuron branching, Generalized abnormality of skin, Respiratory ins...	ORPHA:367
Cln5 Disease	Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Corpus callo...	ORPHA:228360
Ocular Motor Apraxia	Oculomotor apraxia, Jerky head movements	OMIM:257550
Congenital Myasthenic Syndrome	Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency due t...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency due t...	ORPHA:98914
48,Xxyy Syndrome	Ataxia, Tremor, Attention deficit hyperactivity disorder, Chronic otitis media, Abnormal repetiti...	ORPHA:10
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms	ORPHA:79155
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph...	OMIM:128100
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma...	ORPHA:90024
Dilated Cardiomyopathy With Ataxia	Dystonia, Ataxia, Repetitive compulsive behavior, Optic atrophy, Bilateral sensorineural hearing ...	ORPHA:66634
Agnathia-Otocephaly Complex	Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly, Tracheomalacia	OMIM:202650
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Cystathioninuria	Tremor	ORPHA:212
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop...	OMIM:607060
5Q14.3 Microdeletion Syndrome	Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:228384
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia	OMIM:613561
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Succinic Acidemia	Respiratory distress	OMIM:600335
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Cyanosis, Stridor, Respiratory failure, Paroxysmal d...	ORPHA:444013
Snijders Blok-Campeau Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Low-set ears	OMIM:618205
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Ataxia, Dysmetria, Titubation	OMIM:619405
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal t...	OMIM:307000
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, T2...	ORPHA:25
Charge Syndrome	Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, External ear malformation, A...	ORPHA:138
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Ataxia, Progeroid facial appearance, Dysplastic corpus callosum, Primary m...	ORPHA:357058
Developmental And Speech Delay Due To Sox5 Deficiency	Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso...	ORPHA:313892
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Microc...	ORPHA:442835
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism	ORPHA:178509
Ogden Syndrome	Abnormal head movements, Torticollis, Cerebral atrophy, Low-set ears, Macrotia	ORPHA:276432
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Progressive microcephaly	OMIM:614741
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Dysphagia, Stridor...	ORPHA:142
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al...	ORPHA:178320
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Megalencephaly, Hydrocephalus, Respiratory failure, Neonatal...	OMIM:616482
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Kleefstra Syndrome 1	Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri...	OMIM:610253
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Appendicular spasticity, Cerebral palsy, Microcephaly, Dysplastic corpus callosum, Simplified gyr...	OMIM:620001
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Respiratory insufficiency, Hypoplasia of the corpus...	OMIM:616900
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Microcephaly, Corpus callosum atrophy, Tetraplegia, Opisthotonus, Cerebral ...	OMIM:619272
Isolated Atp Synthase Deficiency	Respiratory distress, Ataxia, Microcephaly, Spastic paraplegia, Optic atrophy, Tetraplegia, Dysto...	ORPHA:254913
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations	ORPHA:1143
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder, Limb myoclonus, Jerky head movements, Hyperven...	ORPHA:64280
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Resting tremor, Ataxia, Abnor...	ORPHA:909
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal...	ORPHA:488618
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Breath-Holding Spells	Cyanosis	OMIM:607578
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Macrotia, Abnormality of peri...	ORPHA:90321
Spinocerebellar Ataxia Type 27	Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia	ORPHA:98764
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Cyanosis, Hydrocephalus, Pulmonary arterial hypertension	ORPHA:3309
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Restlessness, Microcephaly, Hypertonia, Hypoplasia of the corpus callosum, ...	ORPHA:544503
Behr Syndrome	Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dysphagia, Progressive spasticity, Trunc...	OMIM:210000
3P25.3 Microdeletion Syndrome	Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac...	ORPHA:435638
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi...	ORPHA:2306
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Microcephaly, Optic atrophy, Death in childhood	OMIM:615597
Ethylmalonic Encephalopathy	Abnormal basal ganglia MRI signal intensity, Ataxia, Abnormal pyramidal sign, Abnormality of extr...	ORPHA:51188
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Dystonia, Ataxia, Neurofibrillary tangles, Jaund...	OMIM:607625
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia	ORPHA:99014
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Head-banging, Low-set ears, Attention deficit hyperactivity disorder, Frequen...	OMIM:619103
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Pick Disease Of Brain	Polyphagia, Disinhibition, Inappropriate laughter, Neuronal loss in central nervous system, Abnor...	OMIM:172700
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Involuntary movements, Microcephaly, Cortical dysplasia, Perisylvian ...	ORPHA:268943
Smith-Magenis Syndrome	Impaired pain sensation, Self-injurious behavior, EEG abnormality, Attention deficit hyperactivit...	ORPHA:819
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Microcephaly, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Aplasi...	ORPHA:765
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Hypoplasia of the corp...	OMIM:618060
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Gait ataxia	OMIM:612075
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Aggressive behavior	OMIM:237310
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells, Respiratory distress	OMIM:271225
Malaria	Respiratory distress	ORPHA:673
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Attention deficit hyper...	OMIM:300352
White-Sutton Syndrome	Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti...	ORPHA:468678
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab...	OMIM:619695
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti...	OMIM:615656
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations	OMIM:313200
Blepharophimosis-Impaired Intellectual Development Syndrome	Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti...	OMIM:619293
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Neurogenic bladder, Ataxia, Primary microceph...	ORPHA:496641
White-Sutton Syndrome	Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Abnormal re...	OMIM:616364
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Diffuse cerebral atrophy, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Optic atro...	OMIM:617710
Perry Syndrome	Hypoventilation, Central hypoventilation, Parkinsonism, Tremor, Rigidity, Respiratory insufficien...	OMIM:168605
Congenital Disorder Of Glycosylation, Type Iia	Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Low-set ears, Ma...	OMIM:212066
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Microcephaly, Cough	ORPHA:86812
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Apnea, Ataxia, Tremor, Hydrocephalus, Oculomotor apraxia, P...	ORPHA:220497
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Ataxia, Hypsarrhythmia, Head tremor, Continuous spike ...	OMIM:619428
Den Hoed-De Boer-Voisin Syndrome	EEG with focal spike waves, Ataxia, Posteriorly rotated ears, Tremor, Multifocal epileptiform dis...	OMIM:619229
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Ataxia, Microcephaly, Tremor, Recurrent pneumonia, Cerebral atrophy, Opisth...	OMIM:616271
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Microcephaly, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, P...	OMIM:619121
New-Onset Refractory Status Epilepticus	Focal T2 hyperintense basal ganglia lesion, Abnormal head movements, Abnormal basal ganglia MRI s...	ORPHA:363558
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia	OMIM:208920
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Co...	ORPHA:168491
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Optic atrophy, Apnea, Cerebral atrophy	OMIM:261680
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Death in infancy, Cyanosis, Apnea, Ataxia, Optic neuropathy, Microcephaly, Bab...	OMIM:252010
Phelan-Mcdermid Syndrome	Impaired pain sensation, Aggressive behavior, Tongue thrusting, Protruding ear, Bruxism, Macrotia...	OMIM:606232
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdia...	OMIM:614381
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Episodic Ataxia Type 1	Respiratory distress, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia	ORPHA:37612
Myotonic Dystrophy 1	Respiratory distress, Cerebral atrophy, Facial diplegia, Dysphagia, Obsessive-compulsive trait	OMIM:160900
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Optic atrophy, Gait ataxia, Attention deficit hyperactivity disorder, Hypop...	OMIM:619383
Congenital Tracheomalacia	Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co...	ORPHA:95430
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Cerebral atrophy, Prominent antihelix, Inappropriate laughter, Macrotia, Abnormal repetitive mann...	OMIM:615802
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Cortical dysplasia, Attention deficit hyperactivity d...	OMIM:610042
Microcephaly 26, Primary, Autosomal Dominant	Spastic tetraparesis, Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified g...	OMIM:619179
Joubert Syndrome	Encephalocele, Aganglionic megacolon, Apnea, Episodic tachypnea, Ataxia, Tremor, Hydrocephalus, A...	ORPHA:475
Ethylene Glycol Poisoning	Cyanosis, Ataxia, Facial palsy, Episodic respiratory distress, Tachypnea, Slurred speech, Addicti...	ORPHA:31826
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Microce...	OMIM:618906
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Ataxia, Respiratory failure, Dysphagia, Frequent falls	OMIM:620166
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Agenesis of co...	OMIM:612863
X-Linked Intellectual Disability, Cantagrel Type	Cerebral cortical atrophy, Abnormal repetitive mannerisms, Tetraparesis, Hypoplasia of the corpus...	ORPHA:85277
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Aggressive behavior, Dysplastic corpus callosum, Asthma, Periventricular cysts, Thick corpus call...	ORPHA:544488
Distal Renal Tubular Acidosis	Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct	ORPHA:18
Moebius Syndrome	Respiratory distress, Poor coordination, Clumsiness, Facial diplegia, Dysdiadochokinesis, Dysphagia	OMIM:157900
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia	ORPHA:79330
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Tr...	OMIM:220110
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Apnea, Ataxia, Tremor, Hydrocephalus, Oculomotor apraxia, P...	ORPHA:220493
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Ischemic stroke, Cough,...	ORPHA:2038
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly, Hypertonia, Death in childhood	OMIM:604273
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:168600
Rett Syndrome	EEG abnormality, Agitation, Abnormal autonomic nervous system physiology, Dystonia, Abnormal repe...	ORPHA:778
Tricuspid Atresia	Cyanosis	ORPHA:1209
2Q37 Microdeletion Syndrome	Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann...	ORPHA:1001
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ...	OMIM:619575
Stt3B-Cdg	Respiratory distress, Optic atrophy, Microcephaly	ORPHA:370924
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Abnormal temper tantrums, Low-set ears, Abnormal repetitive mannerisms	ORPHA:457279
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Microcephaly, Polyphagia, Self-injurious behavior, Abnormal repetitive man...	ORPHA:228402
Norrie Disease	Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel...	ORPHA:649
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hyperton...	OMIM:618056
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Mend Syndrome	Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior	ORPHA:401973
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Hypertonia, Microcephaly, Cyanosis, Opisthotonus	ORPHA:3304
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Neurofibrillary tangles, Repetitive compulsive behavior, Hypersexuality, Lateral ve...	OMIM:607485
Oculopharyngodistal Myopathy 1	Respiratory distress, Ataxia, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respirato...	OMIM:164310
Slc35A1-Cdg	Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage	ORPHA:238459
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Ataxia, Anorexia	ORPHA:79242
Histiocytoid Cardiomyopathy	Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cough, Hemiplegia, Agenesis of corpus callosum	ORPHA:137675
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Dysphagia, Protruding ear, Hypsarrhythmia, Brain atrophy, Low-set ea...	ORPHA:447997
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur...	OMIM:617600
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple...	ORPHA:199241
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Microcephaly	ORPHA:261304
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Kleefstra Syndrome	Aggressive behavior, Chronic otitis media, Self-mutilation, Self-injurious behavior, Thickened he...	ORPHA:261494
Congenital Fibrinogen Deficiency	Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus	ORPHA:335
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Combined Oxidative Phosphorylation Deficiency 53	Death in infancy, Dysplastic corpus callosum, Secondary microcephaly, Death in childhood, Spasticity	OMIM:619423
Duane Retraction Syndrome	External ear malformation, Sensorineural hearing impairment, Blepharospasm, Stenosis of the exter...	ORPHA:233
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ...	ORPHA:90051
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Eosinophilia, Hemiplegia/hemiparesis, Asthma, Respiratory insufficien...	ORPHA:183
Shukla-Vernon Syndrome	Cerebellar atrophy, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, A...	OMIM:301029
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Microcephaly, Opisthotonus, Dysphagia, Neonatal death, Petechiae, Pu...	OMIM:608013
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity	OMIM:616586
Alexander Disease	Cerebral calcification, Ataxia, Facial palsy, Clonus, Megalencephaly, Aqueductal stenosis, Tremor...	ORPHA:58
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Recurrent pneumonia, Abnormal repetitive mannerisms	OMIM:615637
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cortical dysplasia, Abnormal pyramidal sign, Simplified gyral pattern, Hypertonia, Abnormal periv...	ORPHA:468631
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp...	OMIM:618825
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Clonus, Tremor, Jaundice, Dysphagia, Cerebral atrophy, Hypopnea, Respira...	OMIM:617248
Biotinidase Deficiency	Respiratory distress, Apnea, Ataxia, Optic neuropathy, Myelopathy, Optic atrophy, Spastic parapar...	ORPHA:79241
Cockayne Syndrome A	Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decre...	OMIM:216400
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Poor coordination, Poor fine motor coordination, Secondary mi...	OMIM:620242
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Eosinophilic Fasciitis	Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Cerebral white matter atrophy, Optic atrophy, Abnormal periventricular whit...	ORPHA:329178
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Congenital Disorder Of Glycosylation, Type Ij	Apnea, Aggressive behavior, Tremor, Microcephaly, Jaundice, Respiratory insufficiency, Hypertonia	OMIM:608093
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Ataxia, Pulmonary embolism, Microcephaly, Atrophy of the spinal cord, Jaund...	ORPHA:79282
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Polyphagia,...	ORPHA:96121
Waardenburg Syndrome Type 3	Tracheomalacia, Microcephaly, Acrocyanosis, Spastic paraplegia	ORPHA:896
Buerger Disease	Acrocyanosis	ORPHA:36258
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Facial palsy, Respiratory i...	ORPHA:98915
Cockayne Syndrome B	Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio...	OMIM:133540
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:615530
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoencephalopathy, Bradykinesi...	OMIM:614924
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Speech apraxia, Apnea, Recurrent pneumonia, Myoclonus, Asp...	ORPHA:314655
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia	ORPHA:240094
Meckel Syndrome 14	Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly	OMIM:619879
Pitt-Hopkins Syndrome	Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms	OMIM:610954
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Cessation of head grow...	ORPHA:98794
Congenital Diaphragmatic Hernia	Hypoxemia, Respiratory distress	ORPHA:2140
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Esophageal Atresia	Respiratory distress, Vocal cord paresis, Cyanosis, Episodic respiratory distress, Chronic pulmon...	ORPHA:1199
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines, EEG abnor...	OMIM:608049
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cerebellar ver...	OMIM:618347
Craniofaciofrontodigital Syndrome	Respiratory distress, Prominent superficial veins, Dyspnea, Hyperintensity of cerebral white matt...	ORPHA:363705
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Microcephaly	ORPHA:159
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Dysplastic corpus callosum, Spasticity	OMIM:618810
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Secondary microcephaly, Compuls...	OMIM:300986
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Hypoplasia of the corpus callosum	OMIM:617102
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Pain insensitivity, Posteriorly rotated ears, Ataxia, Overfolded helix, Dysme...	OMIM:617330
O'Sullivan-Mcleod Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Eosinophilia, Tremor, Atrophy of the spinal c...	ORPHA:99965
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hydrocephalus, Optic atrophy, Palmoplantar cutis laxa, Agenesis of corpus c...	OMIM:123790
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Death in infancy, Respiratory distress	OMIM:300219
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Microcephaly, Dyspnea, Optic atrophy, Respiratory failure	ORPHA:2707
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Sensorineural hearing impairment, Cerebral atrophy, Microtia, Low-set e...	OMIM:301040
Mucopolysaccharidosis Type 2	Papilledema, Otosclerosis, Hyperactivity, Impulsivity, Aggressive behavior, Decreased nerve condu...	ORPHA:580
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in...	OMIM:619512
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea	ORPHA:860
Charge Syndrome	Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ...	OMIM:214800
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Restlessness, Involuntary movements, Oral-pharyngeal dysphagia, Microcephal...	OMIM:615273
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Jaundice, Pachygyria, Respiratory distress	OMIM:231680
Achondroplasia	Respiratory distress, Death in infancy, Megalencephaly, Hydrocephalus, Upper airway obstruction	OMIM:100800
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ...	ORPHA:48818
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hype...	ORPHA:522077
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Cerebral cortic...	ORPHA:1546
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Ataxia, Dyspnea, Chorea, Episodic respiratory distress, Optic atrophy, Dysphagia, Gait ata...	ORPHA:255210
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Involuntary movements, Attention deficit hyperactivity disorder, Abnormal re...	ORPHA:98784
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Abnormal basal ganglia MRI signal intensity, Apnea, Aggressive behavior, Mi...	ORPHA:17
Schinzel-Giedion Syndrome	Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Hypsarrhythmia, Abnormal cochlea mor...	ORPHA:798
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice	ORPHA:226313
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Decreased nerve conduction velocity, Aspiration, Agenesis of corpus callosu...	OMIM:618733
Lujo Hemorrhagic Fever	Respiratory distress, Resting tremor, Crackles, Nonproductive cough, Rhinitis, Dysphagia, Ecchymo...	ORPHA:319213
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Hijazi-Reis Syndrome	Ankle clonus, Lower limb spasticity, Abnormal repetitive mannerisms	OMIM:301094
Pitt-Hopkins Syndrome	Aganglionic megacolon, Ataxia, Aggressive behavior, Microcephaly, Gait ataxia, Aplasia/Hypoplasia...	ORPHA:2896
Cerebrofacioarticular Syndrome	Ataxia, Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, Hypoplasia of the corp...	ORPHA:314679
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Intenti...	OMIM:619475
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion	OMIM:261740
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Ataxia, Anorexia, Tremor, Tachypnea, Abnormal pyramidal sign, Peri...	ORPHA:3008
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic...	OMIM:157800
Myasthenic Syndrome, Congenital, 21, Presynaptic	Hyperintensity of cerebral white matter on MRI, Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Tuberous Sclerosis Complex	Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha...	ORPHA:805
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Exaggerated startle response, Ataxia, Microcephaly, Dystonia	ORPHA:438216
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Dysmetria, Protr...	OMIM:614756
Bainbridge-Ropers Syndrome	Posteriorly rotated ears, Self-injurious behavior, Low-set ears, Recurrent hand flapping, Abnorma...	OMIM:615485
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Microcephaly, Tracheomalacia, Agenesis of co...	OMIM:217980
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Hypertonia, Lissencephaly, Secondary microcephaly	ORPHA:50810
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Microcephaly, Head-banging, Lateral ventricle dilatation, Compulsive behavi...	ORPHA:177907
Adnp Syndrome	Respiratory distress, Oral-pharyngeal dysphagia, Aggressive behavior, Microcephaly, Cerebral atro...	ORPHA:404448
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Cerebral calcification, Microcephaly, Recurrent pneumonia, Optic atrophy, D...	OMIM:617303
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Tarp Syndrome	Cyanosis, Apnea, Optic atrophy, Athetoid cerebral palsy, Abnormal corpus callosum morphology	ORPHA:2886
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Cutis marmorata, Dystonia, Cerebral calcification, Microcephaly...	ORPHA:51
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Aspiration pneumonia, Limb dyst...	ORPHA:646
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona...	ORPHA:99106
Treacher-Collins Syndrome	Blepharospasm, Microtia, Conductive hearing impairment, Abnormality of the middle ear, Narrow int...	ORPHA:861
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Impulsivity, Cerebral atrophy, Protruding ear, Microtia, Attention deficit hy...	OMIM:301030
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Tremor, Prolonged neonatal jaundice	OMIM:274150
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Multifocal epileptiform discharges, EEG with generalized sharp slow waves, Lo...	ORPHA:369837
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Microcephaly	ORPHA:1867
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Microcephaly, Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Spasti...	OMIM:618569
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Partial agenesis of the corpus callosum, Cyanosis, Microcephaly	OMIM:617478
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Agenesis of corpus callosum, Secondary microcephaly, Hypoplasia of the corpus callosum, Attention...	OMIM:620073
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hydrocephalus, Optic atrophy	ORPHA:1555
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, EEG with central f...	OMIM:301066
Houge-Janssens Syndrome 3	Microcephaly, Self-injurious behavior, Hypoplasia of the corpus callosum, Attention deficit hyper...	OMIM:618354
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Respiratory distress, Tracheomalacia	ORPHA:93259
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ...	OMIM:606002
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect	OMIM:183900
Double Outlet Right Ventricle	Cyanosis, Tachypnea	ORPHA:3426
Developmental And Epileptic Encephalopathy 66	Abnormal repetitive mannerisms	OMIM:618067
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Sandifer Syndrome	Abnormal head movements, Torticollis	ORPHA:71272
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms	ORPHA:319182
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Torticollis, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficie...	ORPHA:536467
Cocaine Intoxication	Respiratory distress, Involuntary movements, Tremor, Wheezing, Tachypnea, Pneumothorax, Agitation...	ORPHA:90068
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Cerebral atrophy, Protruding ...	OMIM:309590
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Abnormal globus pallidus morphology	OMIM:251000
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel...	OMIM:187300
Diaphanospondylodysostosis	Respiratory distress, Polymicrogyria, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea	ORPHA:26793
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Dysphagia, Inspiratory stridor	ORPHA:100050
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, Chylothorax, Death in chi...	OMIM:620278
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxia, Stereotypical b...	ORPHA:513456
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Microce...	ORPHA:2519
Nmda Receptor Encephalitis	Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Hypersexuality, Chorea, EEG ...	ORPHA:217253
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Cerebral calcification, Hydrocephalus, Optic atrophy, Stridor, Pulmonary ar...	ORPHA:505248
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive beh...	OMIM:620330
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Gait ataxia, Secondary microcephaly, Compulsive behaviors, Attention...	ORPHA:476126
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Kinsship Syndrome	Abnormal repetitive mannerisms, Brain atrophy, Low-set ears, Bruxism	OMIM:619297
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Farber Disease	Respiratory distress, Paraparesis, Respiratory insufficiency, Myoclonus, Spasticity	ORPHA:333
Fucosidosis	Abnormal pyramidal sign, Spastic tetraplegia, Spasticity, Acrocyanosis, Vascular skin abnormality	ORPHA:349
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Cerebral atrophy, Limb hypertonia	OMIM:620306
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cutis marmorata, Eosinophilia, Pulmonary embolism, Dyspnea, Angioedema, Ast...	ORPHA:3260
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent pneumonia, Progressive microcephaly	OMIM:607143
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Cardiorespirator...	ORPHA:293987
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Protruding ear, Attention deficit hyperactivity disorder, Abnormal repetitive ...	ORPHA:464311
Floating-Harbor Syndrome	Restlessness, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsive behaviors, Low-...	ORPHA:2044
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Multifocal hyperintensi...	ORPHA:308552
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Respiratory distress, Tracheomalacia	ORPHA:93260
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overfolded helix, Abnormal repetitive mannerisms, Low-set ears	OMIM:618653
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Protruding ear, Macrotia, Abnormal repetitive mannerisms, Cereb...	ORPHA:464306
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Ataxia, Tremor, Jaundice, Hemiparesis, Respiratory ...	ORPHA:533
Myasthenia Gravis	Dyspnea, Acrocyanosis, Dysphagia	ORPHA:589
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Primar...	ORPHA:1051
Developmental And Epileptic Encephalopathy 100	Chorea, Cerebral atrophy, Gait ataxia, Choreoathetosis, Thin corpus callosum, Myoclonus, Dysphagi...	OMIM:619777
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop...	OMIM:618820
Poems Syndrome	Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu...	ORPHA:2905
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni...	ORPHA:980
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri...	ORPHA:508498
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Ataxia, Jaundice, Diffuse leukoencephalopathy, Prolonged neonatal jaundice,...	OMIM:256810
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Progressive microcephaly, Microcephaly	OMIM:610536
Joubert Syndrome 6	Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia, Breathing dysregulation	OMIM:610688
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores...	ORPHA:3342
Arboleda-Tham Syndrome	Dystonia, Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atroph...	OMIM:616268
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Posteriorly rotated ears, Facial palsy, Abnormal repetitive mannerisms, Cupped ear...	OMIM:615873
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia	OMIM:146500
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Lenz-Majewski Hyperostotic Dwarfism	Prominent scalp veins, Cutis marmorata, Microcephaly, Dysplastic corpus callosum, Spina bifida oc...	OMIM:151050
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cyanosis, Aqueductal stenosis, Myelomeningocele, Hydrocephalus	OMIM:306955
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis	ORPHA:36234
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Absent septum pellucidum, Microcephaly, Dyspnea, Hydrocephalus, Erythema, R...	ORPHA:2556
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Respiratory distress	OMIM:618188
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353281
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Mgat2-Cdg	Respiratory distress, Progressive microcephaly, Stereotypical hand wringing	ORPHA:79329
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis, Incoordination	OMIM:223900
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Abnormal cortical gyration, Hypoplasia of the corpus callosum	OMIM:300968
Toxic Epidermal Necrolysis	Respiratory distress, Cough, Erythema, Restrictive ventilatory defect, Dysphagia, Polydipsia	ORPHA:537
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Tremor	OMIM:251100
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms, Myoclonus, Progressive microcephaly, Hyperventilation	OMIM:300672
Coffin-Siris Syndrome 12	Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin...	OMIM:619325
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Q Fever	Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion, Purpura	ORPHA:781
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion, Frequent falls, Leukoencephalopathy	OMIM:620369
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Polyphagia, S...	ORPHA:1606
Rubinstein-Taybi Syndrome 1	Respiratory distress, Hyperactivity, Incoordination, Spina bifida, Impulsivity, Microcephaly, Poo...	OMIM:180849
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Microcephaly, Recurrent pneumonia, Hypereosinophilia, Opisthotonus, Hypertonia, Hypoplasia of the...	ORPHA:508533
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Speech apraxia, Abnormal repetitive mannerisms	ORPHA:529965
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Ecchy...	ORPHA:340
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Cystinosis	Abnormal repetitive mannerisms, Polydipsia, Abnormal pyramidal sign	ORPHA:213
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ...	OMIM:301044
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d...	OMIM:114290
Pilarowski-Bjornsson Syndrome	Speech apraxia, Abnormal repetitive mannerisms	OMIM:617682
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum	ORPHA:363444
Coccidioidomycosis	Respiratory distress, Pneumonia, Eosinophilia, Hydrocephalus, Pleural empyema, Cough, Exudative p...	ORPHA:228123
Nocardiosis	Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo...	ORPHA:31204
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Primrose Syndrome	Restlessness, Calcification of the auricular cartilage, Ataxia, Aggressive behavior, Superiorly d...	OMIM:259050
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Tremor, Rigidity, N...	OMIM:601104
Familial Dysautonomia	Orthostatic hypotension, Acrocyanosis, Optic atrophy, Ataxia	ORPHA:1764
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Impulsivity, Aggressive behavior, Tremor, Dysplastic corpus callosum, Thi...	OMIM:300967
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Asthma, Poor coordination, Nasal flaring, Self-injurious behavior, Attention...	ORPHA:466943
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Urticaria, Interstitial pneumonitis, Pneumonia, Respiratory distress	ORPHA:37042
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea	ORPHA:2299
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, ...	OMIM:612474
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema, Microcephaly	OMIM:224690
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Jaundice	OMIM:617156
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Protruding ear, Self-injurious behavior, EEG abnormality, Atte...	ORPHA:534
Wolf-Hirschhorn Syndrome	Abnormal pinna morphology, Sensorineural hearing impairment, EEG abnormality, Conductive hearing ...	OMIM:194190
Dermatomyositis	Abnormal eosinophil morphology, Telangiectasia of the skin, Erythema, Respiratory insufficiency, ...	ORPHA:221
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent...	OMIM:619522
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he...	ORPHA:353277
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder, Abnormal repe...	OMIM:619005
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abnormality of the peripheral nervous sys...	ORPHA:48435
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic nerve hypoplasia, Abnormal cerebral cortex morphology, Dysplastic corpus callosum, Optic at...	ORPHA:500150
Ogden Syndrome	Torticollis, Cerebral atrophy, Protruding ear, Low-set ears, Dysphagia, Recurrent otitis media, M...	OMIM:300855
8Q24.3 Microdeletion Syndrome	Respiratory distress, Hyperactivity, Optic nerve hypoplasia, Tics, Secondary microcephaly, Hypopl...	ORPHA:508488
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon	ORPHA:210122
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Double Outlet Left Ventricle	Cyanosis, Tachypnea	ORPHA:3427
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul...	ORPHA:97214
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea	ORPHA:99050
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Zttk Syndrome	Dysplastic corpus callosum, Optic atrophy, Abnormal cerebral white matter morphology, Hypoplasia ...	OMIM:617140
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper...	ORPHA:740
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Petechiae, Purpura	ORPHA:2330
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Microcephaly	ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin	ORPHA:79404
Gitelman Syndrome	Respiratory distress, Salt craving, Cerebral calcification, Paralysis, Polydipsia	ORPHA:358
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Speech apraxia, Ataxia, Aggressive behavior, Dysplastic corpus callosum, Pseudobulbar paralysis, ...	ORPHA:466791
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Doors Syndrome	Respiratory distress, Microcephaly, Optic atrophy, Myoclonus, Aspiration pneumonia, Spina bifida ...	ORPHA:79500
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Syringomyelia	OMIM:119600
Hyperoxaluria, Primary, Type I	Cutis marmorata, Acrocyanosis, Optic atrophy, Optic neuropathy	OMIM:259900
White-Kernohan Syndrome	Dysplastic corpus callosum, Attention deficit hyperactivity disorder	OMIM:619426
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or...	ORPHA:95455
Leptospirosis	Respiratory distress, Papilledema, Anorexia, Jaundice, Cough, Pleural effusion	ORPHA:509
Proteus Syndrome	Macrotia, Low-set ears, Narrow internal auditory canal	ORPHA:744
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Microcephaly, Erythema, Respiratory acidosis...	OMIM:614748
Primary Hyperoxaluria	Optic disc pallor, Acrocyanosis, Optic atrophy, Cutis marmorata	ORPHA:416
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cyanosis, Cerebral calcification, Encephalomalacia, Pulmonary arterial hype...	ORPHA:51608
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea, Abnormal autonomic nervous system physiology	ORPHA:3206
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Witteveen-Kolk Syndrome	Hyperactivity, Poor motor coordination, Aggressive behavior, Microcephaly, Dysplastic corpus call...	OMIM:613406
Mowat-Wilson Syndrome	Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Impaired pain sensation, Ataxi...	ORPHA:2152
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Diffuse cerebral atrophy, Microcephaly	ORPHA:83617
Truncus Arteriosus	Cyanosis, Tachypnea	ORPHA:3384
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pain sensation, Senso...	ORPHA:261537
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi...	ORPHA:287
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Plague	Respiratory distress, Slurred speech, Acute infectious pneumonia, Anorexia	ORPHA:707
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Impaired pain sensation, Senso...	ORPHA:261552
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Abnormal cortical gyration, Hypoplasia of the corpus callosum	ORPHA:480880
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata, Microcephaly	OMIM:303600
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Acrocyanosis, Apnea	ORPHA:285
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Cerebral white matter atrophy, Abnormal globus pallidus morphology, Recurre...	ORPHA:99646
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Lowe Oculocerebrorenal Syndrome	Abnormal repetitive mannerisms, Periventricular cysts, Aggressive behavior	OMIM:309000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Abnormal repetitive mannerisms, Microcephaly	OMIM:616682
Alström Syndrome	Respiratory distress, Optic disc pallor, Incoordination, Dorsocervical fat pad, Ataxia, Chronic p...	ORPHA:64
Pmm2-Cdg	Respiratory distress, Abnormality of coordination, Ataxia, Abnormal subcutaneous fat tissue distr...	ORPHA:79318

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 Srrm4

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 Srrm4.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Srrm4^{tm1e(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Srrm4^{tm1e(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Srrm4^{tm1e(EUCOMM)Wtsi}	PMC6459510
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.	Nature communications (October 2017)	Srrm4^{tm1e(EUCOMM)Wtsi}	PMC5638796
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Srrm4^{tm1e(EUCOMM)Wtsi}	PMC5827107
Misregulation of an Activity-Dependent Splicing Network as a Common Mechanism Underlying Autism Spectrum Disorders.	Molecular cell (December 2016)	Srrm4^{tm1b(EUCOMM)Wtsi}	27984743
Essential roles for the splicing regulator nSR100/SRRM4 during nervous system development.	Genes & development (April 2015)	Srrm4^{tm1a(EUCOMM)Wtsi} Srrm4^{tm1b(EUCOMM)Wtsi}	PMC4387716
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource.	Mammalian genome : official journal of the International Mammalian Genome Society (August 2013)	Srrm4^{tm1a(EUCOMM)Wtsi}	PMC3745610

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MGI Allele	Allele Type	Produced
Srrm4^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Srrm4^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Srrm4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Srrm4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	Mice, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Srrm4 MGI:1916205

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

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X-ray

X-ray

Legacy Phenotype Associated Images

Human diseases caused by Srrm4 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data