Gene: Map1b MGI:1306778

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

microtubule-associated protein 1B

Synonyms:

Mtap-5, Mtap1b, MAP5, Mtap5, LC1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Map1b 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 Map1b (3 diseases)
Human diseases predicted to be associated with Map1b (1941 diseases)

The table below shows human diseases associated to Map1b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Periventricular Nodular Heterotopia 9	Epicanthus, Synophrys, Interictal epileptiform activity, Hirsutism, Microcephaly, Hypoplasia of t...	OMIM:618918
Periventricular Nodular Heterotopia		ORPHA:98892
Deafness, Autosomal Dominant 83		OMIM:619808

The table below shows human diseases predicted to be associated to Map1b by phenotypic similarity.

Disease	Matching phenotypes	Source
Oculomotor-Levator Synkinesis	Ptosis, Abnormal eyelid morphology, Eyelid retraction	OMIM:151610
Marcus Gunn Phenomenon	Unilateral ptosis, Congenital ptosis	OMIM:154600
Chudley-Mccullough Syndrome	Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Hydrocephalus, Partial agenesis of...	OMIM:604213
Ptosis, Hereditary Congenital 1	Congenital ptosis	OMIM:178300
Ptosis, Hereditary Congenital 2	Ptosis	OMIM:300245
Lissencephaly 4	Cerebellar hypoplasia, Simplified gyral pattern, Primary microcephaly, Lissencephaly, Agenesis of...	OMIM:614019
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Congenital fibrosis of extraocular muscles, Hypoplasia of the brainstem, Cerebellar hypoplasia, C...	OMIM:610031
Fibrosis Of Extraocular Muscles, Congenital, 5	Ptosis	OMIM:616219
Ptosis, Strabismus, And Ectopic Pupils	Ptosis	OMIM:178330
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Ventriculomegaly, Primary microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Polym...	ORPHA:171703
Schizencephaly	Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum	OMIM:269160
Optic Atrophy 2	Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Macrocephaly, Acquired, With Impaired Intellectual Development	Sparse eyebrow, Downslanted palpebral fissures, Aggressive behavior, Anxiety, Blepharophimosis, T...	OMIM:618286
Migraine, Familial Hemiplegic, 1	Drowsiness, Hemiparesis, Coma, Ataxia, Hemiplegia, Transient unilateral blurring of vision, Tremo...	OMIM:141500
Sub-Cortical Nodular Heterotopia	EEG with focal slow activity, EEG with focal spikes, Abnormal cerebral cortex morphology, Hypopla...	ORPHA:101029
Episodic Ataxia, Type 1	Spastic gait, Blurred vision, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor	OMIM:160120
Cerebellar Ataxia, Cayman Type	Gait ataxia, Abnormal retinal morphology, Cerebellar hypoplasia, Truncal ataxia, Intention tremor...	ORPHA:94122
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Mild malformation of corti...	ORPHA:500166
Spinocerebellar Ataxia 43	Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory imp...	OMIM:617018
Glut1 Deficiency Syndrome 1	Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi...	OMIM:606777
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Hypoplasia of the brainstem, Simplified gyral pattern, Thin corpus callosum, Fusion of the caudat...	OMIM:614039
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Optic atrophy, Failure to thrive, Hypertonia, Tetraplegia, Lethargy, Agenesis of corpus...	OMIM:274270
Oculomotor-Abducens Synkinesis	Ptosis	OMIM:619215
Developmental And Epileptic Encephalopathy 92	Spasticity, Cerebral visual impairment, Inability to walk, Myoclonus, Ataxia, Difficulty walking,...	OMIM:617829
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Cortical dy...	OMIM:608716
Ventriculomegaly And Arthrogryposis	Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination, Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Age...	ORPHA:401830
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination, Aplasia/Hypoplasia of the cerebellar vermis, Cerebral cortical atrophy, Age...	ORPHA:401820
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Upslanted palpebral fissure, Aggressive behavior, Hypoplasia of the brainstem, Simplified gyral p...	OMIM:618492
Methylmalonic Acidemia With Homocystinuria	Retinopathy, Amblyopia, Gait disturbance, Failure to thrive, Lethargy	ORPHA:26
Fetal Akinesia Syndrome, X-Linked	Polyhydramnios, Blepharophimosis, Arrhinencephaly, Narrow palpebral fissure, Stillbirth, Telecant...	OMIM:300073
Gaba-Transaminase Deficiency	Downslanted palpebral fissures, Cerebellar hypoplasia, EEG with burst suppression, Leukodystrophy...	OMIM:613163
Ataxia-Tapetoretinal Degeneration Syndrome	Aplasia/Hypoplasia of the cerebellum, Rod-cone dystrophy, Gait disturbance, Ataxia, Visual impair...	ORPHA:1178
Microcephaly 16, Primary, Autosomal Recessive	Decreased body weight, Primary microcephaly, Simplified gyral pattern, Ptosis, Telecanthus, Agene...	OMIM:616681
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Hypoplasia of the pons, Microcephaly, Cerebellar atrophy, Dysplastic corpus callosum, Dystonia	OMIM:618276
Vocal Cord Paralysis And Ptosis	Bilateral ptosis	OMIM:193240
Homocystinuria Without Methylmalonic Aciduria	Failure to thrive, Lethargy, Ataxia, Visual impairment	ORPHA:622
Spinocerebellar Ataxia 37	Ataxia, Tremor, Frequent falls, Cerebellar atrophy, Unsteady gait	OMIM:615945
Myasthenic Syndrome, Congenital, 23, Presynaptic	Ptosis, Agenesis of corpus callosum	OMIM:618197
Spinocerebellar Ataxia Type 38	Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking, Cerebellar atrophy	ORPHA:423296
Classic Glucose Transporter Type 1 Deficiency Syndrome	Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ...	ORPHA:71277
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spasticity, Abnormal pyramidal sign, Spastic diplegia, Spastic gait, Truncal ataxia, Dysdiadochok...	OMIM:238970
Spinocerebellar Ataxia 40	Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys...	OMIM:616053
Spinocerebellar Ataxia Type 31	Gait ataxia, Spasticity, Tremor, Cerebellar atrophy, Impaired vibratory sensation	ORPHA:217012
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features	Hypoplasia of the corpus callosum, Broad eyebrow, Upslanted palpebral fissure, Agenesis of corpus...	OMIM:612948
Spinocerebellar Ataxia 7	Chorea, Spasticity, Progressive visual loss, Optic atrophy, Abnormality of extrapyramidal motor f...	OMIM:164500
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Primary microcephaly, Cerebellar hypoplasia, Cerebral hypoplasia, D...	OMIM:618266
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Aggressive behavior, Epicanthus, Failure to thrive, Delayed CNS myelination, Microcephaly, Upslan...	OMIM:615286
Microcephaly 17, Primary, Autosomal Recessive	Hypoplasia of the brainstem, Primary microcephaly, Simplified gyral pattern, Cerebellar hypoplasi...	OMIM:617090
Usmani-Riazuddin Syndrome, Autosomal Recessive	Conjunctival hyperemia, Aggressive behavior, Agenesis of corpus callosum, Epicanthus	OMIM:619548
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Cavum septum pellucidum, Lateral ventricle dilatation, Dysgenesis of ...	ORPHA:300573
Cerebrooculofacioskeletal Syndrome 1	Delayed myelination, Cerebellar hypoplasia, Small for gestational age, Blepharophimosis, CNS demy...	OMIM:214150
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Abnormal myelination, Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Cereb...	ORPHA:85179
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Warburg Micro Syndrome 1	Perisylvian polymicrogyria, Optic atrophy, Cerebellar hypoplasia, Failure to thrive, Ptosis, Dela...	OMIM:600118
Spinocerebellar Ataxia Type 15/16	Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t...	ORPHA:98769
Leukoencephalopathy, Progressive, With Ovarian Failure	Leukoencephalopathy, Lateral ventricle dilatation, Periventricular leukomalacia, Hand tremor, Pro...	OMIM:615889
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Cerebellar vermis atrophy, Falls, Dysdiadochokinesis, Truncal ataxia...	ORPHA:363710
Lissencephaly 3	Hypoplasia of the brainstem, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Microcephaly, P...	OMIM:611603
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Myasthenic Syndrome, Congenital, 17	Ptosis	OMIM:616304
Adult Neuronal Ceroid Lipofuscinosis	Aplasia/Hypoplasia of the cerebellum, Spasticity, Abnormal pyramidal sign, Progressive visual los...	ORPHA:79262
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Developmental And Epileptic Encephalopathy 40	Spasticity, Small for gestational age, Myoclonus, Choreoathetosis, Spastic tetraparesis, Lethargy	OMIM:617065
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Focal polymicrogyria, Primary microcephaly, Thin corpus callosum, Dysge...	OMIM:615771
Neuroectodermal Melanolysosomal Disease	Spasticity, Optic atrophy, Cerebellar hypoplasia, Rigidity, Abnormal cerebellar vermis morphology...	ORPHA:33445
Cerebrooculofacioskeletal Syndrome 3	Edema, Microcephaly, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:616570
Spinocerebellar Ataxia Type 12	Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Abnormal cerebe...	ORPHA:98762
Spinocerebellar Ataxia 23	Gait ataxia, Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Lim...	OMIM:610245
Severe Canavan Disease	Spasticity, Blindness, Optic atrophy, Inability to walk, Babinski sign, Lethargy, Decerebrate rig...	ORPHA:314911
Lissencephaly 7 With Cerebellar Hypoplasia	Lymphedema, EEG with burst suppression, Cerebellar hypoplasia, Agyria, Agenesis of corpus callosu...	OMIM:616342
Behr Syndrome	Progressive visual loss, Cerebellar vermis atrophy, Blindness, Optic atrophy, Progressive spastic...	OMIM:210000
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Paralysis, Distal sensory impairment, Difficulty walking	OMIM:613710
Ceroid Lipofuscinosis, Neuronal, 5	Progressive visual loss, Dysdiadochokinesis, Clumsiness, Myoclonus, Retinal degeneration, Ataxia,...	OMIM:256731
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Upslanted palpebral fissure, Ptosis, Epicanthus	OMIM:620086
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Delayed CNS myelination, Periventricular leukomalacia, Optic atrophy, Agenesis of corpus callosum	OMIM:618324
Central Neurocytoma	Paresthesia, Coma, Abnormal lateral ventricle morphology, Ataxia, Babinski sign, Pain insensitivi...	ORPHA:73256
Spastic Paraplegia 45, Autosomal Recessive	Hypoplasia of the corpus callosum, Dysplastic corpus callosum	OMIM:613162
2p15-16.1 microdeletion syndrome	Downslanted palpebral fissures, Telecanthus, Ptosis	DECIPHER:70
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Scotoma, Tremor, ...	OMIM:165300
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Onion bulb formation, Decreased motor nerve conduction velocity, Demyelinating peripheral neuropa...	OMIM:218000
Myasthenic Syndrome, Congenital, 15	Ptosis	OMIM:616227
Autosomal Recessive Dopa-Responsive Dystonia	Gait ataxia, Generalized dystonia, Postural tremor, Parkinsonism, Rigidity, Abnormality of extrap...	ORPHA:101150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia, Cerebellar dysplasia	OMIM:615041
Pontocerebellar Hypoplasia, Type 15	Cerebellar hypoplasia, Simplified gyral pattern, Death in infancy, Hydrocephalus, Partial agenesi...	OMIM:619302
Mitochondrial Complex I Deficiency, Nuclear Type 3	Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Lethargy, Dystonia	OMIM:618224
Lissencephaly, X-Linked, 1	Agenesis of corpus callosum, Agyria, Lissencephaly, Pachygyria	OMIM:300067
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Ankle clonus, Cerebellar hypoplasia, Truncal ataxia, Limb ataxia, Babinski sign, Trem...	OMIM:615768
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Congenital fibrosis of extraocular muscles, Superior rectus atrophy, Levator palpebrae superioris...	OMIM:600638
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban...	OMIM:614561
Spinocerebellar Ataxia Type 20	Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax...	ORPHA:101110
Autosomal Recessive Spastic Paraplegia Type 21	Abnormality of peripheral nerve conduction, Frontotemporal cerebral atrophy, Dementia, Mental det...	ORPHA:101001
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly	ORPHA:250972
Developmental And Epileptic Encephalopathy 88	Hypsarrhythmia, Inferior cerebellar vermis hypoplasia, Progressive microcephaly, Partial agenesis...	OMIM:618959
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Perisylvian polymicrogyria, Ventriculomegaly, Agyria, Dysgenesis of the...	ORPHA:171680
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Spasticity, Optic disc pallor, Coma, Gait disturbance, Ataxia, Babinski sign, Spastic tetraparesi...	OMIM:615838
Myasthenic Syndrome, Congenital, 8	Ptosis	OMIM:615120
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Periventricular cysts, Failure to thrive, Abnormal corpus callosum morphology, Microcephaly, Cere...	ORPHA:255182
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Truncal ataxia, Myoclonus, Ataxia, Failure to thrive, Dysmetria, Head titubation, Lethargy, Dysto...	OMIM:250620
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum	ORPHA:85334
Pontocerebellar Hypoplasia, Type 14	Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the p...	OMIM:619301
Autosomal Recessive Spastic Paraplegia Type 66	Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Colpocephaly	ORPHA:401815
Ptosis-Vocal Cord Paralysis Syndrome	Ptosis	ORPHA:2997
Episodic Ataxia With Slurred Speech	Gait ataxia, Slurred speech, Tremor	ORPHA:401953
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Pachygyria, Colpocephaly	OMIM:614870
Spinocerebellar Ataxia, Autosomal Recessive 4	Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ...	OMIM:607317
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar hypoplasia, Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention t...	ORPHA:314978
Spinocerebellar Ataxia 38	Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor	OMIM:615957
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Bab...	ORPHA:101112
Glycosylphosphatidylinositol Biosynthesis Defect 15	Gait ataxia, Spasticity, Optic atrophy, Cerebellar hypoplasia, Apraxia, Inability to walk, Myopia...	OMIM:617810
3Q13 Microdeletion Syndrome	Agenesis of corpus callosum, Epicanthus	ORPHA:1621
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Polyhydramnios, Optic atrophy, Microcephaly, Frontal cortical atrophy, Parietal cortical atrophy,...	OMIM:618766
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Lethargy, Gait disturbance	ORPHA:79283
Atypical Pantothenate Kinase-Associated Neurodegeneration	Chorea, Spasticity, Abnormal pyramidal sign, Retinopathy, Blindness, Optic atrophy, Parkinsonism,...	ORPHA:216873
Neuronopathy, Distal Hereditary Motor, Type Viia	Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis	OMIM:158580
Masa Syndrome	Agenesis of corpus callosum	ORPHA:2466
Myasthenic Syndrome, Congenital, 13	Ptosis	OMIM:614750
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Ataxia, Babinski sign, Failure to thrive, Cerebellar atrophy, Lethargy, Dystonia	OMIM:618226
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Failure to thrive, Abnormal pyramidal sign, Optic atrophy	OMIM:618228
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopia, Agen...	OMIM:600348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, Cerebell...	OMIM:613153
Corpus Callosum, Partial Agenesis Of, X-Linked	Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Partial agenesis of ...	OMIM:304100
Peroxisome Biogenesis Disorder 8B	Cerebellar vermis atrophy, Optic atrophy, Babinski sign, Dysesthesia, Frequent falls, Hypertonia,...	OMIM:614877
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Amblyopia, Elongated superior cerebellar peduncle...	ORPHA:370022
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Mismatch Repair Cancer Syndrome 4	Agenesis of corpus callosum	OMIM:619101
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Abnormal periventricular white matter mor...	OMIM:604360
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Aplasia/Hypoplasia of the corpus callosum, Primary microcephaly, Cerebellar hypoplasia, Long eyel...	OMIM:616819
Mitochondrial Complex I Deficiency, Nuclear Type 16	Optic atrophy, Failure to thrive, Ptosis, Caudate atrophy, Agenesis of corpus callosum	OMIM:618238
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume, Primary microcephaly, Sim...	OMIM:615095
Subacute Inflammatory Demyelinating Polyneuropathy	Motor conduction block, Abnormality of somatosensory evoked potentials, Diffuse peripheral demyel...	ORPHA:206594
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Failure to thrive, Hypertonia, Lethargy, Dystonia	ORPHA:26792
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum, Cer...	ORPHA:488635
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ...	ORPHA:521406
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Dysmetria, Tremor, Loss of ambulation, Cerebellar atrophy, Unsteady gait	OMIM:617917
Glycine Encephalopathy	Aggressive behavior, Irritability, Agenesis of corpus callosum	OMIM:605899
Dystonia 31	Abnormal posturing, Writer's cramp, Leg dystonia, Craniofacial dystonia, Arm dystonia, Generalize...	OMIM:619565
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Gait ataxia, Inability to walk, Rigidity, Gait disturbance, Vegetative state, Dysmetria, Tremor, ...	OMIM:618090
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Chorea, Lethargy, Bradykinesia, Ataxia	OMIM:618683
Myasthenic Syndrome, Congenital, 18	Ptosis	OMIM:616330
Charcot-Marie-Tooth Disease, Type 4J	Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Peripheral hypomyel...	OMIM:611228
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Ptosis, Microcephaly, Sparse hair, Ag...	OMIM:619989
Leukodystrophy, Hypomyelinating, 18	Abnormal periventricular white matter morphology, Demyelinating peripheral neuropathy, Failure to...	OMIM:618404
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Trem...	OMIM:615362
Pontocerebellar Hypoplasia, Type 6	Spasticity, Appendicular spasticity, Cerebellar hypoplasia, Upper limb spasticity, Failure to thr...	OMIM:611523
Mucolipidosis Iv	Cerebral dysmyelination, Microcephaly, Cerebellar atrophy, Dysplastic corpus callosum, Dystonia	OMIM:252650
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616187
Unilateral Hemispheric Polymicrogyria	Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation	ORPHA:101071
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decr...	OMIM:601098
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Primary microcephaly, Agenesis of corpus callosum, Long eyelashes, Hirsutism, Palpebral edema, Mi...	ORPHA:466688
Spinocerebellar Ataxia 18	Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar atrophy	OMIM:607458
Lichtenstein-Knorr Syndrome	Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor, Cerebellar atrophy	OMIM:616291
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Lethargy, Dystoni...	OMIM:312170
Oculopharyngeal Muscular Dystrophy	Ptosis, Progressive ptosis	OMIM:164300
Spinocerebellar Ataxia, X-Linked 1	Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Cerebellar atrophy, Unsteady...	OMIM:302500
Peroxisome Biogenesis Disorder 5B	Rod-cone dystrophy, Oculomotor apraxia, Retinal dystrophy, Ataxia, Dysmetria, Tremor, Visual impa...	OMIM:614867
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Congenital ptosis	OMIM:192800
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9	Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the nails, Dandy-Walker malformation, Ag...	ORPHA:262767
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Cerebral cortical atrophy, Abnormal hair pattern, Microcephaly, Generalized hirsutism, Agenesis o...	ORPHA:2508
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Edema, Neonatal death, Agenesis of corpus callosum	OMIM:610498
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Tremor, Ataxia, Babinski sign	OMIM:611105
Spastic Ataxia 2, Autosomal Recessive	Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t...	OMIM:611302
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Periventricular cysts, Cerebral cortical atrophy, Lateral ventricle dilatation, Death in infancy,...	OMIM:617668
Cednik Syndrome	Downslanted palpebral fissures, Abnormality of peripheral nerve conduction, Hypogonadism, Optic a...	ORPHA:66631
Leukoencephalopathy With Vanishing White Matter 1	Spasticity, Blindness, Optic atrophy, Gait disturbance, Unsteady gait, Lethargy	OMIM:603896
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner...	OMIM:118210
Pontocerebellar Hypoplasia Type 2	Hypoplasia of the ventral pons, Ventriculomegaly, Abnormal cortical gyration, Cerebellar hypoplas...	ORPHA:2524
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome	Epicanthus, Blepharophimosis, Synophrys, Ptosis, Abnormal lacrimal duct morphology	ORPHA:126
Autosomal Recessive Spastic Paraplegia Type 71	Hypoplasia of the corpus callosum, Abnormal myelination	ORPHA:401840
Citrullinemia Type I	Spasticity, Ankle clonus, Coma, Torticollis, Scotoma, Ataxia, Failure to thrive, Slurred speech, ...	ORPHA:247525
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr...	OMIM:609260
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibration sensation at ankles, Progressive visual loss, Optic atrophy, Babinski sign, Sp...	OMIM:615491
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Downslanted palpebral fissures, Lateral ventricle dilatation, Dandy-Walker malformation, Optic ne...	OMIM:618736
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Abnormal periventricular white matter morphology, CNS demyelination, Decreased nerve conduction v...	OMIM:249900
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated...	OMIM:608673
Trichothiodystrophy 4, Nonphotosensitive	Decreased fertility, Small nail, Trichorrhexis nodosa, Cerebral cortical atrophy, Optic atrophy, ...	OMIM:234050
Combined Oxidative Phosphorylation Deficiency 50	Partial agenesis of the corpus callosum, Microcephaly	OMIM:619025
Dopa-Responsive Dystonia	Generalized dystonia, Inability to walk, Parkinsonism, Rigidity, Poor coordination, Abnormality o...	ORPHA:255
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Congenital Hydrocephalus	Small cerebral cortex, Ventriculomegaly, Abnormal cortical gyration, Hydrocephalus, Lissencephaly...	ORPHA:2185
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan...	OMIM:300423
Epilepsy, Progressive Myoclonic, 9	Simplified gyral pattern, Agenesis of corpus callosum	OMIM:616540
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Abnormal pyramidal sign, Dense calcifications in the cerebellar dentate nucleus, Dysdiado...	OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 2	Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Cerebellar hypoplas...	OMIM:213200
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:166024
Spinocerebellar Ataxia Type 14	Gait ataxia, Somatic sensory dysfunction, Cerebellar vermis atrophy, Rigidity, Myoclonus, Limb at...	ORPHA:98763
Pontocerebellar Hypoplasia, Type 11	Spasticity, Decreased body weight, Coloboma, Inability to walk, Cerebellar hypoplasia, Poor coord...	OMIM:617695
Chronic Inflammatory Demyelinating Polyneuropathy	Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity, ...	ORPHA:2932
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination, Abnormality of peripheral nerve conduction, Optic atrophy	ORPHA:431329
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the pons, Partial a...	OMIM:616171
Craniosynostosis 3	Ptosis, Partial agenesis of the corpus callosum, Low anterior hairline	OMIM:615314
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Gait ataxia, Chorea, Abnormal pyramidal sign, Inability to walk, Rigidity, Coma, Paraparesis, Bab...	OMIM:607483
Spastic Paraplegia 78, Autosomal Recessive	Gait ataxia, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tremor, Parkinsonism, I...	OMIM:617225
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Poor fine motor coordination, Impaired distal proprioception, Impaired vibration sensation in the...	ORPHA:137898
Oculocerebrocutaneous Syndrome	Alopecia, Dandy-Walker malformation, Eyelid coloboma, Hypoplasia of the corpus callosum, Agenesis...	OMIM:164180
Foxg1 Syndrome	Delayed myelination, Decreased body weight, Cognitive impairment, Progressive microcephaly, Abnor...	ORPHA:561854
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Agenesis of corpus callosum	ORPHA:459074
Microcephaly, Amish Type	Optic atrophy, Primary microcephaly, Cerebellar hypoplasia, Failure to thrive, Partial agenesis o...	OMIM:607196
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Amblyopia, Retinal thinning, Retinal atrophy, Ocu...	OMIM:615960
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Poor fine motor coordination, Somatic sensory dysfunction, Paresthesia, Postural tremor, Optic at...	ORPHA:99947
Pontocerebellar Hypoplasia, Type 1A	Hypoplasia of the ventral pons, Cerebral cortical atrophy, Basal ganglia gliosis, Lateral ventric...	OMIM:607596
Neuronopathy, Distal Hereditary Motor, Type Iib	Paralysis, Difficulty walking	OMIM:608634
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Resting tremor, Diffuse cerebral atrophy, Lateral ventricle dilatation	ORPHA:363654
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Diplopia, Postural tremor, Progressive gait ataxia, Clumsiness, Oculomotor apraxia, Limb ataxia, ...	ORPHA:284324
Spinocerebellar Ataxia 42	Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic ataxia, Loss of Purkinje...	OMIM:616795
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Myopia, Ataxia, Failure to thrive, Tremor, Cerebellar atrophy	OMIM:616494
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Microphthalmia-Brain Atrophy Syndrome	Cerebellar vermis atrophy, Lateral ventricle dilatation, Diffuse cerebral atrophy, Microcephaly, ...	ORPHA:77299
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Abnormal dentate nucleus morphology, Lateral ventricle dilatation, Thin corpus callosum, Partial ...	OMIM:619517
Imagawa-Matsumoto Syndrome	Downslanted palpebral fissures, Hypertrichosis, Agenesis of corpus callosum, Polymicrogyria	OMIM:618786
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, EEG abnormality, Motor axonal neuropathy, Sensory axonal neuropathy, Decreased ner...	ORPHA:457205
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d...	OMIM:607706
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Cerebellar atrophy, Distal sensory impairment	OMIM:618387
Multiple Carboxylase Deficiency	Optic atrophy, Coma, Scotoma, Ataxia, Spastic paraparesis, Visual impairment, Lethargy	ORPHA:148
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Microcephaly, Pachygyria, Upslanted palpebral fissure, Agenesis ...	ORPHA:2512
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia gliosis, Lateral ventricle dilatation, Basal ganglia necrosis, Small for gestationa...	ORPHA:79243
Infantile Neuronal Ceroid Lipofuscinosis	Poor fine motor coordination, Chorea, Spasticity, Blindness, Myoclonic spasms, Clumsiness, Myoclo...	ORPHA:79263
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Axonal regeneration, Peripheral hypomyelination, Ptosi...	OMIM:605285
Krabbe Disease	Optic atrophy, EEG abnormality, Motor deterioration, CNS demyelination, Diffuse cerebral atrophy,...	OMIM:245200
Spinocerebellar Ataxia 48	Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Cerebellar...	OMIM:618093
Spinocerebellar Ataxia 12	Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Cerebell...	OMIM:604326
Masa Syndrome	Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Autosomal Recessive Progressive External Ophthalmoplegia	Abnormal retinal morphology, Paresthesia, Shuffling gait, Optic atrophy, Parkinsonism with favora...	ORPHA:254886
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Blindness, Gait disturbance, Failure to thrive, Hypertonia, Hyperkinetic movements, Lethargy	OMIM:236270
Boucher-Neuhauser Syndrome	Gait ataxia, Spasticity, Progressive visual loss, Retinal dystrophy, Ataxia, Chorioretinal dystro...	OMIM:215470
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Gait ataxia, Gait apraxia, Diplopia, Dysdiadochokinesis, Resting tremor, Apraxia, Coma, Parapares...	OMIM:615157
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Abnormal globus pallidus morphology, Failure to thrive, Delayed CNS myelination, Microcephaly, Hy...	OMIM:618603
Holoprosencephaly 5	Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ...	OMIM:609637
Familial Congenital Mirror Movements	Hypogonadotropic hypogonadism, Morphological abnormality of the corticospinal tract, Agenesis of ...	ORPHA:238722
Spinocerebellar Ataxia, Autosomal Recessive 13	Gait ataxia, Retrocerebellar cyst, Dilated fourth ventricle, Abnormal pyramidal sign, Dysdiadocho...	OMIM:614831
Spinocerebellar Ataxia 2	Oculomotor apraxia, Babinski sign, Action tremor, Unsteady gait, Bradykinesia, Spasticity, Rod-co...	OMIM:183090
Dworschak-Punetha Neurodevelopmental Syndrome	Sparse lateral eyebrow, Ptosis, Peripheral axonal neuropathy, Microcephaly, Dysplastic corpus cal...	OMIM:619955
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Decreased body weight, Optic atrophy, EEG abnormality, Small for gestational age, Failure to thri...	OMIM:618346
Baraitser-Winter Syndrome 2	Long palpebral fissure, Lissencephaly, Ptosis, Secondary microcephaly, Pachygyria, Highly arched ...	OMIM:614583
Combined Malonic And Methylmalonic Acidemia	Failure to thrive, Memory impairment, Microcephaly, Dehydration	ORPHA:289504
Chronic Hiccup	Weight loss, Dehydration	ORPHA:396
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Blindness, Myoclonus, Ataxia, Lethargy	OMIM:618225
Primary Angiitis Of The Central Nervous System	Diplopia, Pseudopapilledema, Parkinsonism, Hemiparesis, Paraparesis, Paralysis, Blurred vision, A...	ORPHA:140989
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Cerebellar hypoplasia, Arrhinencephaly, Hydrocephalus, Lissencephaly, Micr...	ORPHA:1528
Autosomal Spastic Paraplegia Type 58	Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Tip-...	ORPHA:397946
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar hypoplasia, EEG with burst suppression, Cerebral hypoplasia, Neuronal loss in the cere...	ORPHA:168486
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Long eyelashes, Failure to thrive, Dehydration	OMIM:616069
Dystonia, Dopa-Responsive	Gait ataxia, Spasticity, Impaired distal vibration sensation, Dysdiadochokinesis, Postural tremor...	OMIM:128230
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Irr...	OMIM:601382
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease	Unilateral ptosis, Unilateral narrow palpebral fissure	OMIM:182875
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Dehydration	OMIM:610370
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d...	OMIM:617145
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Decreased body weight, EEG abnormality, Lissencephaly, Optic nerve hypoplasia, Microcephaly, Dysp...	OMIM:614833
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity, Cerebellar atr...	OMIM:619028
Spinocerebellar Ataxia Type 27	Gait ataxia, Red-green dyschromatopsia, Akinesia, Truncal ataxia, Hand tremor, Limb ataxia, Gait ...	ORPHA:98764
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Tremor, Cerebral cortical hemiatrophy, Lateral ventricle dilatation	ORPHA:306669
Sandhoff Disease, Adult Form	Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations	ORPHA:309169
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Cerebellar atrop...	ORPHA:330050
Combined Oxidative Phosphorylation Deficiency 47	Failure to thrive, Microcephaly, Ptosis, Dehydration	OMIM:618958
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Gait ataxia, Progressive visual loss, Optic atrophy, Myoclonus, Scotoma, Ataxia, Babinski sign, C...	OMIM:616505
Autosomal Dominant Cerebellar Ataxia	Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Macular degeneration, Choreoatheto...	ORPHA:99
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Dehydration	OMIM:601410
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio...	OMIM:605253
6Q25 Microdeletion Syndrome	Downslanted palpebral fissures, Epicanthus, Failure to thrive, Microcephaly, Upslanted palpebral ...	ORPHA:251056
Ring Chromosome 22 Syndrome	Toenail dysplasia, Lymphedema, Epicanthus, Azoospermia, Neurofibromas, Pleural effusion, Edema, M...	ORPHA:1446
Idiopathic Intracranial Hypertension	Diplopia, Papilledema, Blurred vision, Obesity, Photophobia, Visual loss, Scintillating scotoma, ...	ORPHA:238624
Leukodystrophy, Hypomyelinating, 6	Spasticity, Optic atrophy, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Visual ...	OMIM:612438
Lopes-Maciel-Rodan Syndrome	Spasticity, Ankle clonus, Abnormal pyramidal sign, Cerebellar vermis atrophy, Myopia, Tremor, Hyp...	OMIM:617435
Autosomal Dominant Spastic Ataxia Type 1	Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria...	ORPHA:251282
Spinocerebellar Ataxia 50	Chorea, Cerebellar vermis atrophy, Diplopia, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tr...	OMIM:620158
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Chorea, Optic atrophy, Coma, Choreoathetosis, Hemiplegia/hemiparesis, Lethargy, Dystonia	ORPHA:289916
Hyperphenylalaninemia, Bh4-Deficient, B	Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy, Dystonia	OMIM:233910
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lissencephaly	OMIM:619466
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner...	OMIM:607734
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Par...	OMIM:605407
Craniotelencephalic Dysplasia	Cerebellar hypoplasia, Arrhinencephaly, Lissencephaly, Optic nerve hypoplasia, Absent septum pell...	OMIM:218670
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Spasticity, Rod-cone dystrophy, Hemiparesis, Ataxia, Tremor, Constriction...	OMIM:614307
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Atrophy of the dentate nucleus, Dysmet...	OMIM:610185
Even-Plus Syndrome	Synophrys, Oligohydramnios, Highly arched eyebrow, Dysplastic corpus callosum, Sparse hair, Agene...	OMIM:616854
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular cysts, Hypoplasia of the brainstem, Decreased body weight, Cerebellar hypoplasia,...	ORPHA:255138
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Dehydration	OMIM:614265
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Gait ataxia, Spasticity, Optic atrophy, Cerebellar hypoplasia, Oculomotor apraxia, Myopia, Dysmet...	ORPHA:529665
Holoprosencephaly 11	Synophrys, Thick eyebrow, Microcephaly, Agenesis of corpus callosum	OMIM:614226
Chromosome 5P13 Duplication Syndrome	Short palpebral fissure, Self-injurious behavior, Epicanthus, Small for gestational age, Blepharo...	OMIM:613174
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebellar hypoplasia, Perive...	OMIM:616900
Migraine, Familial Hemiplegic, 2	Gait ataxia, Diplopia, Drowsiness, Hemiparesis, Apraxia, Coma, Blurred vision, Episodic ataxia, H...	OMIM:602481
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Dystrophic toenail, Decreased motor nerve...	OMIM:600882
Charcot-Marie-Tooth Disease, Type 4A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ...	OMIM:214400
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Diff...	OMIM:619279
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Coma, Choreoathetosis, Failure to thrive, Lethargy, Dystonia	ORPHA:79312
Lissencephaly 6 With Microcephaly	Simplified gyral pattern, Synophrys, Lissencephaly, Almond-shaped palpebral fissure, Microlissenc...	OMIM:616212
Null Syndrome	Abnormality of peripheral nerve conduction, Optic atrophy, Demyelinating peripheral neuropathy, D...	ORPHA:280234
Neurodegeneration With Brain Iron Accumulation 7	Ataxia, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Cerebellar atrophy, Dystonia	OMIM:617916
Rapid-Onset Dystonia-Parkinsonism	Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dystonia, Cer...	ORPHA:71517
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Hypogonadism, Fine hair, Oligohydramnios, Upslanted palpebral fissure, Agenesis of cere...	ORPHA:228390
Susac Syndrome	Gait ataxia, Somatic sensory dysfunction, Diplopia, Upper motor neuron dysfunction, Visual loss, ...	ORPHA:838
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Optic atrophy, Myopia, Ataxia, Babinski sign, Dysmetria, Tremor, Los...	OMIM:607694
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Self-injurious behavior, Vestibular schwannoma	OMIM:613641
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:609311
Mitochondrial Neurogastrointestinal Encephalomyopathy	Leukoencephalopathy, Weight loss, Decreased motor nerve conduction velocity, Demyelinating periph...	ORPHA:298
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait	OMIM:616921
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Drowsiness, Coma, Tremor, Lethargy, Increased body weight	ORPHA:276608
4H Leukodystrophy	Dysdiadochokinesis, Optic atrophy, Progressive gait ataxia, Abnormality of extrapyramidal motor f...	ORPHA:289494
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Azoospermia, Microcephaly, Low posterior hairline, Agenesis ...	ORPHA:261519
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Abnormal motor evoked potentials, Demyelinating sensory neuropathy, Decreased nerve conduction ve...	ORPHA:99939
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable...	OMIM:260300
Galactosemia	Gait imbalance, Postural tremor, Abnormality of extrapyramidal motor function, Gait disturbance, ...	ORPHA:352
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Cerebellar atrophy, Dystonia,...	ORPHA:329284
Porphyria, Acute Hepatic	Failure to thrive, Paralysis, Paresthesia, Respiratory paralysis	OMIM:612740
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Hemiparesis, Confusion, Lethargy	OMIM:617900
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Ptosis	OMIM:617732
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Early Myoclonic Encephalopathy	Myoclonus, Lethargy	ORPHA:1935
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Onion bulb formation, Decreased motor nerve conduction velocity, Decreased distal sensory nerve a...	OMIM:607684
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Corpus callosum atrophy, Aggressive behavior, Lateral ventricle dilatation, ...	OMIM:619244
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Downslanted palpebral fissures, Upslanted palpebral fissure, Aggressive behavior, Global brain at...	ORPHA:481152
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner...	OMIM:605588
Ataxia With Vitamin E Deficiency	Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Ab...	ORPHA:96
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Anterior hypopituitarism, Dysplastic corpus callosum	OMIM:601016
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Coma, Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Lethargy	ORPHA:27
Pyruvate Dehydrogenase Deficiency	Spasticity, Abnormal pyramidal sign, Cerebral palsy, Choreoathetosis, Gait disturbance, Ataxia, T...	ORPHA:765
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Paralysis	OMIM:616286
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Abnormality of peripheral nerve conduction, Axonal degeneration, Decreased amplitude of sensory a...	ORPHA:90103
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Partial agenesis of the corpus callosum, Microcephaly, Optic atrophy, Epicanthus	OMIM:245349
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence	Ptosis	OMIM:609612
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Gait disturbance, Kinetic tremor	OMIM:611808
Developmental Delay And Seizures With Or Without Movement Abnormalities	Rigidity, Ataxia, Tremor, Chiari type I malformation, Dystonia, Bradykinesia	OMIM:617836
Combined Oxidative Phosphorylation Defect Type 13	Delayed myelination, Failure to thrive, Abnormal corpus callosum morphology, Decreased nerve cond...	ORPHA:319514
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Dystonia, Ataxia	OMIM:246900
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation, Short corpus callosum	OMIM:619972
Bilateral Frontoparietal Polymicrogyria	Cerebellar dysplasia, Abnormal cerebellum morphology, Ventriculomegaly, Cerebral dysmyelination, ...	ORPHA:101070
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic atrophy, Babinski sign, Paroxysmal dyskinesia, Spasticity, Reduced visual ac...	OMIM:617282
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia	ORPHA:401901
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy	OMIM:610100
Charcot-Marie-Tooth Disease, Type 4B3	Onion bulb formation, Microcephaly, Decreased nerve conduction velocity, Myelin outfoldings	OMIM:615284
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Confusion, Lethargy	OMIM:613002
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait	ORPHA:494526
Combined Oxidative Phosphorylation Deficiency 54	Epicanthus, Optic disc pallor, Obesity, Secondary microcephaly, Hypergonadotropic hypogonadism, P...	OMIM:619737
Intellectual Developmental Disorder, Autosomal Dominant 65	Aggressive behavior, Synophrys, Thin eyebrow, Narrow palpebral fissure, Low posterior hairline, U...	OMIM:619320
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Acute demyelinati...	ORPHA:101081
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus c...	OMIM:617542
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Delirium, Drowsiness, Coma, Ataxia, Failure to thrive, Paraplegia, Loss of consciousness, Confusi...	ORPHA:927
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Polyhydramnios, Cerebral cortical atrophy, Hyperintensity of cerebral white matter on MRI, Primar...	ORPHA:500144
Spinocerebellar Ataxia, Autosomal Recessive 21	Gait ataxia, Spasticity, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Impaired pain sensa...	OMIM:616719
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Downslanted palpebral fissures, Hypoplasia of the brainstem, Simplified gyral pattern, Interictal...	OMIM:620001
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Coloboma, Visual impairment	OMIM:613703
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation, Excessive daytime ...	ORPHA:99014
4Q21 Microdeletion Syndrome	Self-injurious behavior, Cerebellar hypoplasia, Synophrys, Long eyelashes, Ptosis, Generalized hi...	ORPHA:238750
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ...	OMIM:616040
Microhydranencephaly	Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Pachygyria, Se...	OMIM:605013
Hsd10 Disease	Progressive visual loss, Optic atrophy, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, A...	ORPHA:391417
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Visua...	OMIM:614299
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Ptosis, Horizontal eyebrow, Epicanthus	OMIM:619311
Pyruvate Dehydrogenase E3 Deficiency	Spasticity, Reduced visual acuity, Ataxia, Failure to thrive, Lethargy	ORPHA:2394
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia	OMIM:618425
Neuropathy, Congenital Hypomyelinating, 2	Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, De...	OMIM:618184
Orofaciodigital Syndrome Xv	Ventriculomegaly, Agenesis of corpus callosum, Cerebellar vermis hypoplasia	OMIM:617127
Central Diabetes Insipidus	Failure to thrive, Anxiety, Weight loss, Dehydration	ORPHA:178029
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Polyhydramnios, Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal...	ORPHA:86822
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio...	OMIM:608323
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paresthesia, Optic atrophy, Retinal dystrophy, Visual loss, Lethargy	ORPHA:49827
Hypotonia, Infantile, With Psychomotor Retardation	Hypoplasia of the corpus callosum, Lateral ventricle dilatation	OMIM:616816
Trismus-Pseudocamptodactyly Syndrome	Ptosis	ORPHA:3377
Radio-Tartaglia Syndrome	High anterior hairline, Downslanted palpebral fissures, Small nail, Aggressive behavior, Epicanth...	OMIM:619312
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Abnormal periventricular white matter morphology, Ventriculomegaly, Lat...	OMIM:613443
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity	OMIM:608236
Alg2-Cdg	Lateral ventricle dilatation, Hyperintensity of cerebral white matter on MRI, Abnormal basal gang...	ORPHA:79326
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Cerebral calcification, Ptosis, Decreased nerve conduction velocity, Microcephaly, Gene...	ORPHA:1933
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplasia, H...	OMIM:613154
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica...	ORPHA:314632
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Abnormal pyramidal sign, Myoclonus, Tremor, Cerebellar atrophy, Progressive cerebellar ataxia, Dy...	ORPHA:139485
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ...	OMIM:180800
Transient Neonatal Diabetes Mellitus	Small for gestational age, Failure to thrive, Dehydration	ORPHA:99886
Martsolf Syndrome 2	Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation	OMIM:619420
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia	OMIM:600116
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cognitive impairment, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ...	OMIM:604168
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Gait ataxia, Spasticity, Abnormal pyramidal sign, Cerebellar vermis atrophy, Dysdiadochokinesis, ...	OMIM:614381
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors	Congenital ptosis	OMIM:254190
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:614120
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Long eyelashes, Abnormal cerebral white matter morphol...	OMIM:619026
Classic Galactosemia	Gait imbalance, Postural tremor, Clumsiness, Gait disturbance, Incoordination, Ataxia, Action tre...	ORPHA:79239
X-Linked Charcot-Marie-Tooth Disease Type 1	Gait disturbance, Ataxia, Impaired pain sensation, Excessive daytime somnolence, Tremor	ORPHA:101075
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormality of peripheral nerve conduction, Cerebral cortical atrophy, Motor axonal neuropathy, L...	ORPHA:48431
Craniosynostosis 6	Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Cere...	OMIM:616602
Lamellar Ichthyosis	Aplasia/Hypoplasia of the eyebrow, Cognitive impairment, Abnormality of the nail, Ectropion, Dehy...	ORPHA:313
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Synophrys, Agenesis of corpus callosum, Cerebellar vermis hypoplasia	ORPHA:453521
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Thin corpus callosum, Leukodystrophy, Peripheral axona...	OMIM:619851
Corticobasal Syndrome	Somatic sensory dysfunction, Limb myoclonus, Akinesia, Parkinsonism, Limb apraxia, Myoclonus, Lim...	ORPHA:454887
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Apraxia, Gait disturbance, Babinski sign, Dysmetria, Slurred speech, Action tr...	ORPHA:93952
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Cerebral atrophy, Agenesis of corpus callosum, Death in infancy	OMIM:600329
Intellectual Developmental Disorder, Autosomal Dominant 36	Downslanted palpebral fissures, Delayed CNS myelination, Microcephaly, Abnormal hair whorl, Hypop...	OMIM:616362
Spinocerebellar Ataxia Type 36	Limb myoclonus, Loss of Purkinje cells in the cerebellar vermis, Diplopia, Truncal ataxia, Blurre...	ORPHA:276198
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar dysplasia, Perisylvian polymicrogyria, Ventriculomegaly, Cerebellar hypoplasia, Cerebe...	OMIM:616531
Intellectual Disability-Strabismus Syndrome	Polyhydramnios, Upslanted palpebral fissure, Aggressive behavior, Delayed myelination, Epicanthus...	ORPHA:363528
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c...	DECIPHER:29
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Paraparesis, Hand tremor, Incoordination, Gait disturbance, Babinski sign, Dysmetri...	OMIM:302800
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Inability to walk, Cerebellar hypoplasia, Ataxia, Failure to thrive, Tremor, Hypertonia, Myopia, ...	OMIM:619556
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Absent septum pellucidum, Age...	OMIM:307000
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Primary microcephaly, Abnormal cerebellar vermis morphology, Cerebellar...	ORPHA:357058
Neuronopathy, Distal Hereditary Motor, Type Vc	Decreased compound muscle action potential amplitude	OMIM:619112
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum	Agenesis of corpus callosum	OMIM:225040
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:615376
Spastic Ataxia 1, Autosomal Dominant	Ptosis	OMIM:108600
Spinocerebellar Ataxia, Autosomal Recessive 7	Gait ataxia, Diplopia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babi...	OMIM:609270
Spinocerebellar Ataxia Type 21	Gait ataxia, Cerebellar vermis atrophy, Diplopia, Akinesia, Rigidity, Abnormality of extrapyramid...	ORPHA:98773
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Gait ataxia, Dilated fourth ventricle, Spasticity, Cerebellar vermis atrophy, Oculomotor apraxia,...	ORPHA:1170
Medulloblastoma	Cerebellar ataxia associated with quadrupedal gait, Progressive visual loss, Diplopia, Cerebellar...	ORPHA:616
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short palpebral fissure, Polyhydramnios, Small cerebral cortex, Curly hair, Upslanted palpebral f...	OMIM:617360
Dystonia 28, Childhood-Onset	Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa...	OMIM:617284
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ...	OMIM:118220
Srd5A3-Cdg	Rod-cone dystrophy, Abnormal cerebellum morphology, Optic atrophy, Coloboma, Abnormal cerebellar ...	ORPHA:324737
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Limb hypertonia, Optic atrophy, Rigidity, Retinal degeneration, Myoclonus, Ataxia, Fa...	ORPHA:442835
Greig Cephalopolysyndactyly Syndrome	Telecanthus, Agenesis of corpus callosum	ORPHA:380
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation, Hyperintensity of cerebral white matter on MRI, EEG abnormality, Hy...	ORPHA:565624
Early-Onset X-Linked Optic Atrophy	Emotional lability, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor	ORPHA:98890
Charcot-Marie-Tooth Disease Type 4A	Chronic axonal neuropathy, Motor conduction block, Demyelinating peripheral neuropathy, Decreased...	ORPHA:99948
Hypertrichosis Cubiti	Downslanted palpebral fissures, Abnormal nasolacrimal system morphology, Abnormal eyelid morpholo...	ORPHA:2220
Chromosome 3Q13.31 Deletion Syndrome	Ptosis, Agenesis of corpus callosum, Epicanthus	OMIM:615433
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Gait ataxia, Spasticity, Cerebellar cortical atrophy, Shuffling gait, Dysdiadochokinesis, Resting...	ORPHA:247234
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypoplasia of the corpus callosum, Long eyelashes, Agenesis of corpus callosum	OMIM:618577
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Polyhydramnios, Periventricular cysts, Lateral ventricle dilatation, Hyperintensity of cerebral w...	ORPHA:544488
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye...	OMIM:162500
Ataxia-Deafness-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Decreased nerve conduction velocity	ORPHA:1188
Insulinoma	Paresthesia, Fluctuations in consciousness, Coma, Abnormality of pain sensation, Tremor, Abnormal...	ORPHA:97279
Neuronal Intranuclear Inclusion Disease	Leukoencephalopathy, Cognitive impairment, Decreased motor nerve conduction velocity, Dementia, D...	OMIM:603472
Baraitser-Winter Syndrome 1	Epicanthus, Long palpebral fissure, Lissencephaly, Failure to thrive, Ptosis, Microcephaly, Pachy...	OMIM:243310
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor	OMIM:612437
Neuronopathy, Distal Hereditary Motor, Type Iia	Paralysis	OMIM:158590
Lower Motor Neuron Syndrome With Late-Adult Onset	Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf...	ORPHA:276435
Hypermanganesemia With Dystonia 2	Spasticity, Ankle clonus, Tip-toe gait, Inability to walk, Parkinsonism, Clumsiness, Limb dystoni...	OMIM:617013
Reticular Dysgenesis	Failure to thrive, Weight loss, Dehydration	ORPHA:33355
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Cerebellar hypoplasia, Polymicrogyria, Microcephaly, Colpocephaly	OMIM:618731
Frontonasal Dysplasia 1	Epicanthus, Widow's peak, Ptosis, Pericallosal lipoma, Agenesis of corpus callosum	OMIM:136760
Neuronopathy, Distal Hereditary Motor, Type Viib	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Mohr-Tranebjaerg Syndrome	Cerebral visual impairment, Ankle clonus, Abnormal pyramidal sign, Shuffling gait, Optic atrophy,...	ORPHA:52368
Leukodystrophy, Hypomyelinating, 2	Cognitive impairment, Optic atrophy, Decreased motor nerve conduction velocity, Leukodystrophy, C...	OMIM:608804
Congenital Muscular Dystrophy With Cerebellar Involvement	Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Abnormal pyramidal sign, Blindnes...	ORPHA:370959
Congenital Myopathy 10A, Severe Variant	Failure to thrive, Abnormal motor nerve conduction velocity, Facial palsy	OMIM:614399
Ophthalmoplegia, External, And Myopia	Spina bifida, Ptosis	OMIM:311000
Toriello-Lacassie-Droste Syndrome	Short palpebral fissure, Polyhydramnios, Abnormal conjunctiva morphology, Epicanthus, Blepharophi...	ORPHA:3339
Joubert Syndrome 36	Ptosis, Highly arched eyebrow	OMIM:618763
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Paralysis, Dystonia, Amyotrophic lateral sclerosis	OMIM:300857
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Charcot-Marie-Tooth Disease, Type 4C	Segmental peripheral demyelination, Peripheral axonal degeneration, Decreased motor nerve conduct...	OMIM:601596
Weiss-Kruszka Syndrome	Downslanted palpebral fissures, Epicanthus, Hypoplastic fingernail, Ptosis, Hypoplasia of the cor...	OMIM:618619
Autism, Susceptibility To, X-Linked 6	Ptosis	OMIM:300872
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Optic atrophy, Synophrys, Agenesis of corpus callosum, Hirsutism, Hyperconvex nail, Microcephaly,...	OMIM:300004
Braddock-Carey Syndrome 1	Downslanted palpebral fissures, Curly hair, Microcephaly, Sparse hair, Telecanthus, Agenesis of c...	OMIM:619980
Cln5 Disease	Spasticity, Dysdiadochokinesis, Inability to walk, Truncal ataxia, Clumsiness, Ataxia, Poor gross...	ORPHA:228360
Monomelic Amyotrophy	Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells	ORPHA:65684
Ring Chromosome 1 Syndrome	Downslanted palpebral fissures, Telecanthus, Ptosis	ORPHA:1437
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials	OMIM:618912
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Upslanted palpebral fissure, Lissencephaly, Microcephaly, Hypoplasia of the corpus callosum, High...	OMIM:618142
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Upslanted palpebral fissure, Agenesis of corpus callosum, Failure to thrive, Delayed CNS myelinat...	OMIM:615802
Distal Hereditary Motor Neuropathy Type 5	Abnormal motor nerve conduction velocity	ORPHA:139536
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Spasticity, Tremor, Ataxia	OMIM:300983
Neuromuscular Oculoauditory Syndrome	Epicanthus, Decreased amplitude of sensory action potentials, Peripheral hypomyelination, Sensory...	OMIM:618733
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Dehydration	ORPHA:28
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Ptosis, Microcephaly, CNS hypomyelination, Hypoplasia of the corpus callosum, Agen...	OMIM:616239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar dysplasia, Inability to walk, Cerebellar hypoplasia, Retinal dystrophy, Myopia, Cerebe...	OMIM:613155
Coenzyme Q10 Deficiency, Primary, 4	Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Cerebellar atrophy	OMIM:612016
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Limb myoclonus, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Abnormal lower motor ...	ORPHA:2590
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Spastic tetraparesis, Tremor, Broad-based gait, Optic atrophy	OMIM:619470
Glutathionuria	Agenesis of corpus callosum	OMIM:231950
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria	Ptosis	OMIM:258470
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Gait ataxia, Chorea, Impaired distal vibration sensation, Truncal ataxia, Oculomotor apraxia, Lim...	OMIM:208920
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Decreased number of small...	ORPHA:101097
Brain Malformations With Or Without Urinary Tract Defects	Upslanted palpebral fissure, Cognitive impairment, Failure to thrive, Hypoplasia of the corpus ca...	OMIM:613735
Spinocerebellar Ataxia, Autosomal Recessive 31	Retinopathy, Optic atrophy, Cerebellar hypoplasia, Choreoathetosis, Ataxia, Tremor, Dystonia	OMIM:619422
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Downslanted palpebral fissures, Self-injurious behavior, Anxiety, Synophrys, Supernumerary nipple...	OMIM:618929
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ...	OMIM:118200
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Tremor, Gait disturbance, Resting tremor	OMIM:616710
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Polyhydramnios, Hypoplasia of the brainstem, Cerebellar hypoplasia, Pterygium, Dandy-Walker malfo...	OMIM:225790
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude	OMIM:605726
Pelizaeus-Merzbacher Disease	Abnormal pyramidal sign, Cerebellar vermis atrophy, Optic atrophy, Inability to walk, Writer's cr...	OMIM:312080
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Thin corpus callosum, Delayed CNS myelination, Partial agenesis of the corpus callosum, CNS demye...	OMIM:619653
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Decreased nerve conduction velocity, Peripheral axonal neuropathy	ORPHA:101082
Spinocerebellar Ataxia, Autosomal Recessive 32	Ptosis, Abnormal nerve conduction velocity	OMIM:619862
Typhoid	Coma, Ataxia, Tremor, Hypertonia, Lethargy	ORPHA:99745
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec...	ORPHA:98856
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ...	OMIM:145900
Charcot-Marie-Tooth Disease, Type 4D	Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio...	OMIM:601455
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation	OMIM:618890
Ophthalmoplegia Totalis With Ptosis And Miosis	Ptosis	OMIM:258400
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia	OMIM:615924
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Abnormal pyramidal sign, Progressive visual loss, Optic atrophy, Parkinsonism, Abnorm...	OMIM:614298
Dystonia 12	Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia	OMIM:128235
Pyruvate Carboxylase Deficiency	Periventricular cysts, Basal ganglia gliosis, Delayed myelination, Hyperintensity of cerebral whi...	ORPHA:3008
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Temtamy Syndrome	Downslanted palpebral fissures, Thick corpus callosum, Highly arched eyebrow, Self-mutilation, Ag...	OMIM:218340
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Absent septum pellucidum, Agenesis of corp...	ORPHA:2182
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar dysplasia, Lateral ventricle dilatation, Dysgenesis of the c...	OMIM:617751
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral...	ORPHA:101077
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sparse eyebrow, Hypoplastic toenails, Sparse scalp hair, Downslanted palpebral fissures, Epicanth...	ORPHA:459061
Atypical Juvenile Parkinsonism	Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Resting tremor, Akinesia, Rigidity, Inabili...	ORPHA:391411
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Synophrys, Broad eyebrow, Narrow palpebral fissure, Oligohydramnio...	OMIM:620113
Acromicric Dysplasia	Abnormal eyebrow morphology, Long eyelashes, Decreased nerve conduction velocity	ORPHA:969
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Abnormal auditory evoked potentials, Telecanthus, Agenesis of corpus ...	OMIM:109120
Xeroderma Pigmentosum, Complementation Group G	Small for gestational age, Spasticity, Tremor, Ataxia	OMIM:278780
Hyperphenylalaninemia, Bh4-Deficient, A	Limb hypertonia, Parkinsonism, Rigidity, Small for gestational age, Choreoathetosis, Ataxia, Exce...	OMIM:261640
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Ptosis, Thick eyebrow	OMIM:606242
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Cerebral cortical atrophy, Ventriculomegaly, Cerebellar hypoplasia, Simplified gyral pattern, Hyp...	OMIM:617669
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Primary microcephaly, Epicanthus, Abnormal autonomic nervous system...	ORPHA:300570
Leukoencephalopathy With Ataxia	Gait ataxia, Visual field defect, Choroidal neovascularization, Limb ataxia, Retinoschisis, Actio...	OMIM:615651
N-Acetylglutamate Synthase Deficiency	Coma, Failure to thrive, Confusion, Lethargy	OMIM:237310
Developmental And Epileptic Encephalopathy 41	Spasticity, Inability to walk, Babinski sign, Tetraparesis, Lethargy	OMIM:617105
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction

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