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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Periventricular Nodular Heterotopia 9
Hypoplasia of the corpus callosum, Interictal epileptiform activity, Microcephaly, Synophrys, Epi... OMIM:618918
Periventricular Nodular Heterotopia
ORPHA:98892

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Oculomotor-Levator Synkinesis
Abnormal eyelid morphology, Eyelid retraction, Ptosis OMIM:151610
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Ventricul... OMIM:604213
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Frontoparietal c... OMIM:610031
Deafness, X-Linked 7
Thick eyebrow, Telecanthus, Ptosis OMIM:301018
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Confusion, Ataxia, Lethargy, Spasticity, Hemiparesis, Paroxysmal dyst... OMIM:606777
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary microcephaly, Polym... ORPHA:171703
Schizencephaly
Schizencephaly, Cerebral cortical atrophy, Agenesis of corpus callosum OMIM:269160
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma... ORPHA:500166
Developmental And Epileptic Encephalopathy 92
Dystonia, Inability to walk, Ataxia, Lethargy, Spasticity, Secondary microcephaly, Cerebral visua... OMIM:617829
Optic Atrophy 2
Babinski sign, Tremor, Optic atrophy, Dysdiadochokinesis OMIM:311050
Leukoencephalopathy with metaphyseal chondrodysplasia
Visual loss, Spastic paraplegia, Metaphyseal chondrodysplasia, Diffuse cerebral atrophy, Gait dis... OMIM:300660
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Drowsiness, Coma, Confusion, Ataxia, Transient unilateral blurring of vision,... OMIM:141500
Sub-Cortical Nodular Heterotopia
Abnormality of the basal ganglia, Agenesis of corpus callosum, EEG with focal slow activity, Abno... ORPHA:101029
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Lethargy, Microcephaly, Coloboma, Failure to thriv... OMIM:274270
Methylmalonic Acidemia With Homocystinuria
Retinopathy, Amblyopia, Lethargy, Microcephaly, Failure to thrive, Gait disturbance ORPHA:26
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Blurred vision, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Highly arched eyebrow,... OMIM:608716
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Cerebellar atrophy, Dystonia OMIM:618276
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Hypo... OMIM:614039
Homocystinuria Without Methylmalonic Aciduria
Ataxia, Lethargy, Failure to thrive, Cerebral cortical atrophy, Visual impairment ORPHA:622
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Limb ataxia,... OMIM:617018
Microcephaly 16, Primary, Autosomal Recessive
Decreased body weight, Agenesis of corpus callosum, Ptosis, Microcephaly, Simplified gyral patter... OMIM:616681
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Simplified gyral... OMIM:614019
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Ankle clonus, Dysmetria, Tremor, Abnormal cerebellum morphology, Poor coordination, Spasticity, R... OMIM:270500
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Upslanted palpebral fissure, Agenesis of corpus callosum, Aggressive behavior, ... OMIM:618492
Autosomal Recessive Spastic Paraplegia Type 69
Aplasia/Hypoplasia of the cerebellar vermis, Abnormal myelination, Cerebral cortical atrophy, Age... ORPHA:401830
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Retinal dysplasia, Ataxia, Microcephaly, Cortical dysplasia, Polymicrogyria OMIM:615771
Autosomal Recessive Spastic Paraplegia Type 67
Aplasia/Hypoplasia of the cerebellar vermis, Abnormal myelination, Cerebral cortical atrophy, Age... ORPHA:401820
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Dystonia, Progressive microcephaly, Ataxia, Lethargy, Failure to thrive, Leuk... OMIM:618226
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Telecanthus, Polyhydramnios, Narrow palpebral fissure, Blepharophimo... OMIM:300073
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Ataxia, Tremor OMIM:213000
Neuroectodermal Melanolysosomal Disease
Hypertonia, Cerebral cortical hemiatrophy, Myopia, Cerebellar hypoplasia, Abnormality of the opti... ORPHA:33445
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Dystonia, Progressive microcephaly, Apraxi... ORPHA:71277
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Retinal degeneration, Ataxia, Gait ataxia, Microcephaly, Spasticity, Limb ata... OMIM:614322
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Leukoencephalopathy, Periventricular l... OMIM:615889
Microcephaly 19, Primary, Autosomal Recessive
Decreased body weight, Failure to thrive in infancy, Microcephaly, Simplified gyral pattern, Hypo... OMIM:617800
Vocal Cord Paralysis And Ptosis
Bilateral ptosis OMIM:193240
Leukoencephalopathy, Brain Calcifications, And Cysts
Cerebral calcification, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait d... OMIM:614561
Severe Canavan Disease
Blindness, Inability to walk, Cerebral white matter atrophy, Lethargy, Spasticity, Megalencephaly... ORPHA:314911
Behr Syndrome
Cerebellar atrophy, Dysmetria, Progressive visual loss, Ataxia, Progressive spasticity, Gait dist... OMIM:210000
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Iron accumulation in globus pallidus, Generalized dystonia, Cerebellar vermis... OMIM:619389
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Lissencephaly, Pachygyria, H... OMIM:611603
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Agenesis of corpus callosum, Hypoplastic hippocampus, Partial agenesis of the c... ORPHA:85179
Ataxia-Tapetoretinal Degeneration Syndrome
Ataxia, Rod-cone dystrophy, Pigmentary retinopathy, Gait disturbance, Aplasia/Hypoplasia of the c... ORPHA:1178
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Upslanted palpebral fissure, Agenesis of corpus callosum, Aggressive behavior, Microcephaly, Fail... OMIM:615286
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Inten... ORPHA:98762
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia, Difficulty walking, Tremor ORPHA:423296
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Intellectual Developmental Disorder, Autosomal Recessive 4
Microcephaly, Upslanted palpebral fissure, Delayed myelination OMIM:611107
Autosomal Recessive Spastic Paraplegia Type 21
Dementia, Mental deterioration, Hypoplasia of the corpus callosum, Frontotemporal cerebral atroph... ORPHA:101001
Bifid Nose, Autosomal Dominant
Ptosis OMIM:109740
Myasthenic Syndrome, Congenital, 15
Ptosis OMIM:616227
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Leukodystrophy, Downslanted palpebral fissures, Agenesis of corpus callosum OMIM:613163
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... OMIM:600348
Spinocerebellar Ataxia 7
Dysmetria, Progressive visual loss, Olivopontocerebellar atrophy, Progressive cerebellar ataxia, ... OMIM:164500
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Tremor ORPHA:217012
Usmani-Riazuddin Syndrome, Autosomal Recessive
Epicanthus, Conjunctival hyperemia, Agenesis of corpus callosum, Aggressive behavior OMIM:619548
Spinocerebellar Ataxia Type 20
Cerebral calcification, Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Intention tr... ORPHA:101110
Warburg Micro Syndrome 1
Cerebral atrophy, Hypertrichosis, Agenesis of corpus callosum, Cerebellar hypoplasia, Perisylvian... OMIM:600118
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Obesity, Tremor, Ataxia, Unsteady gait, Microcephaly, Re... OMIM:614947
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Upslanted palpebral fissure, Broad eyebrow, Agenesis of corpus callosum, Hypoplasia of the corpus... OMIM:612948
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Progressive microcephaly, Oromandib... ORPHA:521406
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Visual loss, Cerebellar atrophy, Cerebral atrophy, Blindness, Ataxia, Pigmentary ret... OMIM:610951
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Abnormal cerebellum morphology, Ataxia, Diffuse cerebral atrophy, Abnormality... OMIM:615362
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Dysdiadochokinesis, Cerebellar vermis atrophy, Cogwheel rigidity, My... ORPHA:363710
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Central Neurocytoma
Cerebral calcification, Abnormality of vision, Coma, Ataxia, Abnormal lateral ventricle morpholog... ORPHA:73256
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Microcephaly 17, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hypoplasia of the brainstem, Fa... OMIM:617090
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Talipes equinovarus, Paralysis, Difficulty walking, Lethargy OMIM:613710
Autosomal Recessive Dopa-Responsive Dystonia
Parkinsonism, Focal dystonia, Generalized dystonia, Oculogyric crisis, Bradykinesia, Ataxia, Limb... ORPHA:101150
Adult Neuronal Ceroid Lipofuscinosis
Visual loss, Abnormal pyramidal sign, Progressive visual loss, Ataxia, Spasticity, Clumsiness, Ab... ORPHA:79262
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis OMIM:618197
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Progressive microcephaly, Ataxia, Cerebral cortical atrophy, Hypoplasia of th... OMIM:617862
Intellectual Developmental Disorder, Autosomal Dominant 22
Microcephaly, Epicanthus, Agenesis of corpus callosum OMIM:612337
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Hammertoe, Ataxia, Steppage gait, Gait ataxia, Distal sensory impa... OMIM:618387
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Hypoplasia of the corpus callo... OMIM:300423
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Dystonia, Choreoathetosis, Small for gestational age, Basal ganglia cysts, Agen... OMIM:312170
Alpha-Methylacyl-Coa Racemase Deficiency
Visual impairment, Ataxia, Pigmentary retinopathy, Spasticity, Tremor OMIM:614307
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Agenesis of corpus callosum, Impaired vibration sensation in the l... OMIM:610245
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Demyelinating peripheral neuropathy, Decreased nerve co... OMIM:618404
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination, Hypoplasia of the corpus callosum ORPHA:401840
2p15-16.1 microdeletion syndrome
Downslanted palpebral fissures, Telecanthus, Ptosis DECIPHER:70
Lopes-Maciel-Rodan Syndrome
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Hypertonia, Dystonia... OMIM:617435
Lissencephaly, X-Linked, 1
Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum OMIM:300067
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Spasticity, Leukoencephalopathy, Babinski sign, Tremor OMIM:611105
Developmental And Epileptic Encephalopathy 41
Cerebral atrophy, Inability to walk, Lethargy, Microcephaly, Spasticity, Hypoplasia of the corpus... OMIM:617105
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Lissencephaly, Lymphede... OMIM:616342
Bowen Syndrome Of Multiple Malformations
Failure to thrive, Agenesis of corpus callosum OMIM:211200
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Cerebellar hypoplasia, Tremor, Unsteady gait, Limb ataxia, Spasticity, Trunca... OMIM:615768
Optic Atrophy 3, Autosomal Dominant
Scotoma, Optic disc pallor, Reduced visual acuity, Abnormality of extrapyramidal motor function, ... OMIM:165300
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Failure to thrive, Abnormal periventricular white matter morphology, Delayed myel... OMIM:616881
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, Mental deterioration, Decreased nerve conduction velocity, Abnormal per... OMIM:249900
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Mitochondrial Complex I Deficiency, Nuclear Type 3
Abnormal pyramidal sign, Dystonia, Ataxia, Lethargy, Abnormality of extrapyramidal motor function OMIM:618224
Developmental And Epileptic Encephalopathy 88
Partial agenesis of the corpus callosum, Hypoplasia of the pons, Progressive microcephaly, Hypsar... OMIM:618959
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Dystonia, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Cerebral cortical atrophy,... OMIM:617669
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Abnormal corpus callosum morphology, Periventricular cysts, Abnormality of the ... ORPHA:255182
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Visual impairment, Choreoathetosis, Ataxia, Microcephaly, Rigidity,... OMIM:612438
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Microcephaly, Failure to thrive, Optic atrophy, Hypertonia ORPHA:26792
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Superior rectus atrophy, Agenesis of corpus callosum, Ptosis, Peripheral axonal neuropathy, Facia... OMIM:600638
Dystonia 23
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... OMIM:614860
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebral atrophy, Spastic tetraparesis, Hypoplasia of the corpus callosum, Ataxia, Lethargy, Fail... OMIM:615838
Cednik Syndrome
Abnormal corpus callosum morphology, Microcephaly, Downslanted palpebral fissures, Pachygyria, Ab... ORPHA:66631
Leukoencephalopathy With Vanishing White Matter
Blindness, Lethargy, Unsteady gait, Spasticity, Cessation of head growth, Gait disturbance, Leuko... OMIM:603896
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular... ORPHA:216873
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis ORPHA:2997
3Q13 Microdeletion Syndrome
Epicanthus, Agenesis of corpus callosum ORPHA:1621
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Agenesis of corpus callosum, Parietal cortical atrophy, Microcephaly, Polyhydramnios, Frontal cor... OMIM:618766
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Abnormal pyramidal sign, Parkinsonism, Resting tremor, Impaired vibratory sen... OMIM:617225
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebellar atrophy, Cerebral dysmyelination, Dystonia, Microcephaly OMIM:252650
Mitochondrial Complex I Deficiency, Nuclear Type 6
Abnormal pyramidal sign, Failure to thrive, Optic atrophy, Lethargy OMIM:618228
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Lethargy, Gait disturbance ORPHA:79283
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Intention tremor, Lower limb spasticity, ... OMIM:616948
Multiple Mitochondrial Dysfunctions Syndrome 6
Visual loss, Dysmetria, Cerebellar atrophy, Dystonia, Ataxia, Failure to thrive, Optic disc pallo... OMIM:617954
Autosomal Recessive Spastic Paraplegia Type 66
Cerebellar hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Inability to walk, Rigidity, Ga... OMIM:618090
Cerebrooculofacioskeletal Syndrome 1
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Failure to thrive, Blepharophim... OMIM:214150
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Cerebellar atrophy, Abnormal lateral ventricle morphology, Hypoplasia of t... ORPHA:488635
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Myopia, Cerebellar hypoplasia, Apraxia, Inability to walk, Tremor,... OMIM:617810
Jaberi-Elahi Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Agenesis of corpus callosum, Myopia, In... OMIM:617988
Myasthenic Syndrome, Congenital, 13
Ptosis OMIM:614750
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Retinal dystrophy, Dilated fourth ventricle, Hypermetropia, Amblyopia, Myop... ORPHA:370022
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Hypoplasia of the corpus callosum, Short palm, Cerebellar hypoplas... OMIM:610185
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Upper eyelid edema, Long eyelashes, Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus callo... OMIM:616819
Pontocerebellar Hypoplasia, Type 15
Dystonia, Agenesis of corpus callosum, Cerebellar hypoplasia, Partial agenesis of the corpus call... OMIM:619302
Poretti-Boltshauser Syndrome
Cerebellar dysplasia, Retinal dystrophy, Cerebellar cyst, Dilated fourth ventricle, Amblyopia, My... OMIM:615960
Myasthenic Syndrome, Congenital, 18
Ptosis OMIM:616330
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Lethargy, Spasticity, Abnormality of extrapyramidal motor function, Optic atrophy, Myoclo... OMIM:614299
Spastic Paraplegia 11, Autosomal Recessive
Agenesis of corpus callosum, Obesity, Mental deterioration, Decreased number of peripheral myelin... OMIM:604360
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Death in childhood, Microcephaly, Partial agene... OMIM:619517
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Cerebellar dysplasia, Abnormal cerebellum morphology, Ventriculomegaly, ... ORPHA:101070
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Progressive cerebellar ataxia, Impaired distal p... ORPHA:137898
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Cerebellar atrophy, Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebella... OMIM:606183
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Frequent falls, Intention tremor, Cerebellar hypoplasia, Spastic dysarthria, Unste... ORPHA:314978
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Aplasia/Hypoplasia of the cerebellar vermis, Dilation of lateral ventricles, Agenesis of corpus c... OMIM:300864
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Myopia, Ataxia, Failure to thrive, Spasticity, Hypoplasia of the corpus callo... OMIM:616494
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal pyramidal sign, Impaired vibratory sensation, Hypopigmentation of the fundus, Spastic pa... OMIM:238970
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of somatosensory evoked potentials, Axonal loss, Abnormality of the autonomic nervous... ORPHA:206594
Pontocerebellar Hypoplasia, Type 14
Agenesis of corpus callosum, Cerebellar hypoplasia, Simplified gyral pattern, Hypoplasia of the b... OMIM:619301
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Abnormal cerebral white matter morphology, Fasciculations, Ataxia, Gait... OMIM:607317
Krabbe Disease
EEG abnormality, Peripheral demyelination, Motor deterioration, Decreased nerve conduction veloci... OMIM:245200
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Dysmetria, Retinal degeneration, Progressive visual loss, Ataxia, Dysdiadocho... OMIM:256731
Autosomal Spastic Paraplegia Type 58
Microcephaly, Clonus, Tremor, Reduced visual acuity, Cerebellar atrophy, Dysmetria, Frequent fall... ORPHA:397946
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Agenesis of corpus callosum, Ptosis, Failure to thrive, Optic atrophy OMIM:618238
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:616187
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar dysplasia, Cerebellar cyst, Cerebellar hypoplasia, Hypoplasia of the pons, Ven... OMIM:613153
Glycine Encephalopathy
Irritability, Agenesis of corpus callosum, Aggressive behavior OMIM:605899
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Cerebellar hypoplasia, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Spinocerebellar Ataxia, X-Linked 3
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Unilateral vocal cord paralysis,... OMIM:301790
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Failure to thrive, Edema, Long eyelashes OMIM:616069
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Frequent falls, Dystonia, Abn... OMIM:607483
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebral atrophy, Cerebellar atrophy, Action tremor, Optic neuritis, Abnormal retinal morphology,... ORPHA:254886
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Agenesis of corpus callosum, Long eyelashes, Thick eyebrow, Palpebral edema, Highly arched eyebro... ORPHA:466688
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cerebral atrophy, Sensory axonal neuropathy, EEG abnormality, Abnormal peripheral action potentia... ORPHA:457205
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Myasthenic Syndrome, Congenital, 8
Ptosis OMIM:615120
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Visual loss, Dysmetria, Cerebellar atrophy, Myoclonic spasms, Dystonia, Progres... ORPHA:79263
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebell... OMIM:617751
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Cerebral atrophy, Microcephaly, Failure to thrive, Irritability, Delayed myelination, Cerebral wh... ORPHA:500545
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progress... OMIM:604326
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Retinal dystrophy, Tremor, Ataxia, Unsteady gait, Rod-cone dystrop... OMIM:614867
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Decreased nerve conduction velocity, Decreased motor nerve con... OMIM:611228
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Cerebellar atrophy, Paralysis, Hypoplasia of the corpus callosum, Small basal g... OMIM:616286
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Agenesis of corpus callosum, Onion bulb formation, Ptosis, Decreased sensory nerve conduction vel... OMIM:218000
Primary Angiitis Of The Central Nervous System
Tetraparesis, Paralysis, Parkinsonism, Pseudopapilledema, Amaurosis fugax, Ataxia, Paraparesis, B... ORPHA:140989
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia, Lethargy OMIM:618683
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Cerebellar hypoplasia, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Brittle hair, Woolly hair, Optic atrophy, Nail dysplasia, Trichorrhexis nodosa, Parti... OMIM:234050
Dystonia 31
Generalized dystonia, Leg dystonia, Craniofacial dystonia, Abnormal posturing, Writer's cramp, Ar... OMIM:619565
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Optic nerve hypoplasia, Ptosis, Microcephaly, Dandy-Walker malformat... OMIM:618736
4H Leukodystrophy
Cerebellar atrophy, Dysmetria, Dystonia, Hypoplasia of the corpus callosum, Myopia, Hyperintensit... ORPHA:289494
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis OMIM:192800
Juvenile Huntington Disease
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Abnormal cerebral white matter morpholog... ORPHA:248111
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Generalized hirsutism, Agenesis of corpus callosum, Abnormal hair pattern, Microcephaly, Cerebral... ORPHA:2508
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Dandy-Walker malformation, Aplasia/Hypoplasia of the nails, Agenesis of corpus callosum, Hypoplas... ORPHA:262767
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Progressive cerebellar ataxia, Abnormal cerebellar peduncle morphology, Hypermyelinated retinal n... ORPHA:98
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Cerebellar hypoplasia, Perisylvian polymicrogyria, Ventriculomegaly, Cerebe... OMIM:616531
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Dysmetria, Hypertonia, Intention tremor, Optic atrophy, Progressive visual lo... OMIM:616505
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Parkinsonism With Polyneuropathy
Anxiety, Decreased amplitude of sensory action potentials, Decreased motor nerve conduction veloc... OMIM:619279
Neuronopathy, Distal Hereditary Motor, Type Iib
Paresis of extensor muscles of the big toe, Paralysis, Difficulty walking OMIM:608634
Citrullinemia Type I
Coma, Ataxia, Loss of consciousness, Lethargy, Failure to thrive, Spasticity, Torticollis, Scotom... ORPHA:247525
Combined Malonic And Methylmalonic Acidemia
Dehydration, Microcephaly, Failure to thrive, Memory impairment ORPHA:289504
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Microcephaly OMIM:619025
Beta-Propeller Protein-Associated Neurodegeneration
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... ORPHA:329284
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Inability to walk, Leg dystonia,... ORPHA:255
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Onion bulb formation, Decreased number of peripheral myelinated nerve fiber... OMIM:609260
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Spasticity,... OMIM:213200
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum ORPHA:166024
Combined Oxidative Phosphorylation Deficiency 2
Edema, Agenesis of corpus callosum, Small for gestational age OMIM:610498
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dysmetria, Frequent falls, Dystonia, Agenesis of corpus callosum, Intention tremor, Abnormality o... ORPHA:453521
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Abnormal lacrimal duct morphology, Ptosis, Synophrys, Epicanthus, Blepharophimosis ORPHA:126
Combined Oxidative Phosphorylation Deficiency 47
Dehydration, Microcephaly, Failure to thrive, Ptosis OMIM:618958
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination, Abnormal nerve conduc... ORPHA:2932
Craniosynostosis 3
Partial agenesis of the corpus callosum, Low anterior hairline, Ptosis OMIM:615314
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxi... ORPHA:98763
Familial Congenital Mirror Movements
Hypogonadotropic hypogonadism, Agenesis of corpus callosum, Morphological abnormality of the cort... ORPHA:238722
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Oculocerebrocutaneous Syndrome
Orbital cyst, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Eyelid coloboma, Da... OMIM:164180
Susac Syndrome
Visual loss, Somatic sensory dysfunction, Abnormal corpus callosum morphology, Confusion, Letharg... ORPHA:838
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Encephalopathy, Recurrent, Of Childhood
Incoordination, Choreoathetosis, Intention tremor, Athetosis, Lethargy, Chorea, Truncal ataxia, B... OMIM:130950
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Substantia nigra gliosis, Rigidity, Gait ... OMIM:600116
Foxg1 Syndrome
Abnormal corpus callosum morphology, Cognitive impairment, Decreased body weight, Agenesis of cor... ORPHA:561854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Autosomal Recessive Spastic Paraplegia Type 15
Hypoplasia of the corpus callosum, Hand tremor, Impaired vibratory sensation, Upper limb spastici... ORPHA:100996
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Kinetic tremor, Parkinsonism, Dystonia, Abnormal substantia nigra mor... ORPHA:98756
Spastic Paraplegia 79, Autosomal Recessive
Tetraparesis, Cerebral atrophy, Visual loss, Dysmetria, Cerebellar atrophy, Myopia, Intention tre... OMIM:615491
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Imagawa-Matsumoto Syndrome
Downslanted palpebral fissures, Polymicrogyria, Agenesis of corpus callosum, Hypertrichosis OMIM:618786
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Cerebral atrophy, Blindness, Lethargy, Failure to thrive, Gait disturbance OMIM:236270
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Segmental peripheral demyelination/remyelination, Myelin outfoldings, Onion bulb formation, Clust... OMIM:607734
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Pyruvate Dehydrogenase Deficiency
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Aplasia/Hypoplasia of the corpus callosum, Os... ORPHA:765
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Cerebellar atrophy, Talipes cavus equinovarus, Dystonia, Focal T2 hypoin... ORPHA:139485
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysarthria, Spastic parapleg... ORPHA:251282
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Impaired ... OMIM:128230
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Frequent falls, Somatic sensory dysfunction, Hand tre... ORPHA:99947
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... ORPHA:284324
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy, Resting tremor ORPHA:363654
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... ORPHA:306692
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Apraxia, Spastic parap... OMIM:615157
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Upslanted palpebral fissure, Short palpebral fissure, Agenesis of corpus callosum, Small cerebral... OMIM:617360
Baraitser-Winter Syndrome 2
Agenesis of corpus callosum, Highly arched eyebrow, Ptosis, Lissencephaly, Long palpebral fissure... OMIM:614583
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Unilateral ptosis, Unilateral narrow palpebral fissure OMIM:182875
Congenital Neuronal Ceroid Lipofuscinosis
Agenesis of corpus callosum, Diffuse demyelination of the cerebral white matter, Cerebellar hypop... ORPHA:168486
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Decre... ORPHA:90103
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic gait, Abnormal pyramidal sign, Ataxia, Unsteady gait, Loss of Purkinj... OMIM:616795
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Abnormality of the extraocular muscles, Decreased number of large ... ORPHA:298
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Diffuse cerebral atrophy, Dif... ORPHA:330050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Myopia, Cerebellar hypoplasia, Inability to walk, Microcephaly, Hypoplasia ... OMIM:613155
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Abnormal caudate nucleus morphology, Bradykinesia, Postural tremor, Rigidity, Diffuse c... ORPHA:314632
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Dysplastic corpus callosum, Progressive microcephaly, Cerebellar cyst... ORPHA:2524
Hsd10 Disease
Choreoathetosis, Progressive visual loss, Spastic paraparesis, Ataxia, Microcephaly, Rigidity, Ga... ORPHA:391417
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Dysmetria, Action tremor, Frequent falls, Calcaneovalgus deformity, Hypoplasi... ORPHA:93952
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Microcephaly, Diffuse cerebral atrophy, Corp... ORPHA:77299
Pontocerebellar Hypoplasia, Type 11
Decreased body weight, Hypermetropia, Inability to walk, Ataxia, Poor coordination, Microcephaly,... OMIM:617695
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, EEG abnormality, Agenesis of corpus callosum, ... OMIM:614833
Autosomal Recessive Primary Microcephaly
Upslanted palpebral fissure, Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Microc... ORPHA:2512
Multiple Carboxylase Deficiency
Optic atrophy, Spastic paraparesis, Coma, Ataxia, Lethargy, Scotoma, Visual impairment ORPHA:148
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Axonal degeneration/regeneration, Decreased number of peripheral myelinated... OMIM:118210
Leukodystrophy, Hypomyelinating, 15
Cerebral atrophy, Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Hypermetropia, Amblyopia... OMIM:617951
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Cerebral atrophy, Hypoplastic hippocampus, Death in infancy, Agenesis of corpus callosum OMIM:600329
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Ataxia, Gait ataxia, Chorea, Cachexia, Bab... OMIM:618093
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Dihydrolipoamide Dehydrogenase Deficiency
Microcephaly, Dystonia, Ataxia, Lethargy OMIM:246900
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Drowsiness, Coma, Confusion, Ataxia, Lethargy, Loss of consciousness, Microceph... ORPHA:927
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Excessive daytime... OMIM:261640
Ring Chromosome 22 Syndrome
Agenesis of corpus callosum, Azoospermia, Thick eyebrow, Neurofibromas, Pleural effusion, Microce... ORPHA:1446
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Dysdiadochokinesis, Bradykinesia, Athetosis, Rig... OMIM:213600
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dilated fourth ventricle, Retrocerebellar... OMIM:614831
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Intention tremor, Chorioretinal dystrophy, Progressive visual loss, Ataxia, S... OMIM:215470
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Ptosis OMIM:616326
Leukodystrophy, Hypomyelinating, 2
Cerebral atrophy, Sensory axonal neuropathy, Cognitive impairment, Demyelinating motor neuropathy... OMIM:608804
Chronic Hiccup
Dehydration, Weight loss ORPHA:396
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Dysmetria, Myopia, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Oc... ORPHA:529665
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Decreased body weight, EEG abnormality, Small for gestational age, Partial agenesis of the corpus... OMIM:618346
Spinal Muscular Atrophy, Jokela Type
Hammertoe, Fasciculations, Distal sensory impairment, Difficulty walking, Tremor OMIM:615048
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal at... ORPHA:98764
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Small for gestational age, Ba... ORPHA:79243
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Agenesis of corpus callosum, Woolly hair, Dilated third ventricle, Leukoencepha... OMIM:619244
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Ataxia, Gait ataxia, Distal sensory impairment, Spasticity, T... OMIM:616719
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Onion bulb formation, Decreased nerve conduction velocity OMIM:615284
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Agenesis of corpus callosum, Abnormal globus pallidus morphology, Microcephaly, Failure to thrive... OMIM:618603
Diarrhea 4, Malabsorptive, Congenital
Dehydration, Failure to thrive OMIM:610370
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cerebral calcification, Generalized hirsutism, Decreased nerve conduction velocity, Ptosis, Micro... ORPHA:1933
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Ataxia, Abnormal cerebral white matter morphology, Tremor OMIM:618951
Mental Retardation, Buenos Aires Type
Fair hair, Long eyelashes, Curly eyelashes, Ptosis, Partial agenesis of the corpus callosum, Micr... OMIM:249630
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Leukodystrophy, Hypomyelinating, 21
Tetraparesis, Cerebellar atrophy, Dystonia, Athetosis, Ataxia, Coma, Microcephaly, Failure to thr... OMIM:619310
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dystonia, Oculomotor apraxia, Ataxia, Gai... OMIM:617145
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, High myopia, Abnormal pyramidal sign, Dystonia, Myopia, Cerebellar... OMIM:614381
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Onion bulb formatio... OMIM:605253
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy, Dystonia, Tremor ORPHA:306669
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital bilateral ptosis, Highly arched eyebrow, Congenital fibrosis of extraocular muscles OMIM:609384
Pontocerebellar Hypoplasia, Type 2D
Cerebral atrophy, Progressive microcephaly, Irritability, Abnormal periventricular white matter m... OMIM:613811
Hypermanganesemia With Dystonia 2
Opisthotonus, Dystonia, Hyperintensity of cerebral white matter on MRI, Gait disturbance, Microce... OMIM:617013
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, Myopia, Ataxia, Abnormal cerebellum morphology, Postural... OMIM:607694
Spinocerebellar Ataxia, Autosomal Recessive 31
Retinopathy, Cerebral atrophy, Dystonia, Choreoathetosis, Cerebellar hypoplasia, Clinodactyly of ... OMIM:619422
Pyruvate Dehydrogenase E1-Beta Deficiency
Decreased body weight, Periventricular cysts, Agenesis of corpus callosum, Corticospinal tract hy... ORPHA:255138
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tr... OMIM:619028
Chromosome 5P13 Duplication Syndrome
Upslanted palpebral fissure, Short palpebral fissure, Agenesis of corpus callosum, Small for gest... OMIM:613174
Cln5 Disease
Cerebellar atrophy, Dysmetria, Inability to walk, Poor gross motor coordination, Ataxia, Tremor, ... ORPHA:228360
Idiopathic Intracranial Hypertension
Visual loss, Obesity, Lethargy, Papilledema, Blurred vision, Diplopia, Photophobia, Scintillating... ORPHA:238624
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:619466
Neurodegeneration With Brain Iron Accumulation 5
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... OMIM:300894
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Pigmentary retinopathy, Macu... ORPHA:99
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Polymicrogyria OMIM:300982
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Gait ataxia, Diplopia, Babinski sign, L... OMIM:609270
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Anxiety, Decreased nerve conduction velocity, Aggressive behavior, Microcephaly, Failure to thrive OMIM:618356
Combined Malonic And Methylmalonic Aciduria
Dehydration, Failure to thrive OMIM:614265
Combined Oxidative Phosphorylation Defect Type 13
Abnormal corpus callosum morphology, Abnormality of the basal ganglia, Decreased nerve conduction... ORPHA:319514
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Lissencephaly, Absent... OMIM:218670
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonus, Lethargy OMIM:618225
6Q25 Microdeletion Syndrome
Upslanted palpebral fissure, Agenesis of corpus callosum, Microcephaly, Downslanted palpebral fis... ORPHA:251056
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Upslanted palpebral fissure, Agenesis of corpus callosum, Fine hair, Agenesis of cerebellar vermi... ORPHA:228390
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the cerebellum ORPHA:1188
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:605285
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Hypogonadotropic hypogonadism, Cognitive impair... OMIM:604168
O'Donnell-Luria-Rodan Syndrome
Abnormal corpus callosum morphology, Self-injurious behavior, Anxiety, Abnormal cerebral white ma... OMIM:618512
Holoprosencephaly 11
Microcephaly, Thick eyebrow, Agenesis of corpus callosum, Synophrys OMIM:614226
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Microcephaly, Simplified gyral pattern, Periventricular white matter hyperi... OMIM:619470
Null Syndrome
Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy, Decreased ner... ORPHA:280234
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Cerebral cortical atrophy, Spasticity, Hypoplasia of the corpus callosum, Optic atrophy, ... OMIM:300983
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Highly arched eyebrow, Synophrys, Sparse... OMIM:616854
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Cerebellar atrophy, Dysmetria, Frequent falls, Hand tremor, Tip-toe gait, Parapar... OMIM:302800
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Dystrophic toenail, Axonal degeneration/regeneration, Decreased number of peripheral myelinated n... OMIM:600882
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Ventriculomegaly, Abnormal p... OMIM:616900
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Ata... OMIM:616204
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea... OMIM:619602
Neuronal Intranuclear Inclusion Disease
Cognitive impairment, Dementia, Decreased sensory nerve conduction velocity, Decreased motor nerv... OMIM:603472
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Epicanthus, Agenesis of corpus callosum OMIM:250620
Maternal Uniparental Disomy Of Chromosome X
Agenesis of corpus callosum, Azoospermia, Predominantly lower limb lymphedema, Microcephaly, Low ... ORPHA:261519
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Segmental peripheral demye... OMIM:601098
Srd5A3-Cdg
Visual loss, Cerebellar atrophy, Abnormal cerebellum morphology, Ataxia, Optic disc hypoplasia, R... ORPHA:324737
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Cerebellar vermis atrophy, Ataxia, Gait ... ORPHA:1170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Cerebellar cyst, Cerebellar hypoplasia, Hypoplasia of the pons, Polymicrogy... OMIM:615181
Galactosemia
Action tremor, Dystonia, Ataxia, Lethargy, Speech apraxia, Failure to thrive, Postural tremor, Ga... ORPHA:352
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Long eyelashes, Cerebral cortical atrophy, Abnormality of peripher... ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Leukoencephalopathy, Dystonia, Hypoplasia of the corpus callosum OMIM:614924
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Decr... OMIM:609311
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... ORPHA:71517
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Drowsiness, Coma, Lethargy, Increased body weight, Tremor ORPHA:276608
Joubert Syndrome 22
Postaxial foot polydactyly, 2-3 toe syndactyly, Retinal dysplasia, Temporal cortical atrophy, Age... OMIM:615665
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity, Irr... OMIM:601382
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Confusion, Lethargy OMIM:617900
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:612016
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Demyelinating motor neuropathy, Peripheral axonal neuropathy... ORPHA:99939
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Irritability, Progressive microce... OMIM:607196
Pyruvate Dehydrogenase E3 Deficiency
Ataxia, Lethargy, Microcephaly, Failure to thrive, Spasticity, Reduced visual acuity ORPHA:2394
Holoprosencephaly, Recurrent Infections, And Monocytosis
Microcephaly, Failure to thrive, Epicanthus, Agenesis of corpus callosum OMIM:610680
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Long eyelashes, Decreased sensory nerve conduction velocity, Microc... OMIM:619026
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Axonal degeneration/regeneration, Decreased number of peripheral myelinated... OMIM:605588
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Abnormal cerebral white matter morphology, Lethargy OMIM:201470
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Parkinsonism, Dilated fourth ventricle, Impaired vibratory sensation, F... OMIM:183090
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Hypertonia, Dystonia, Abnormality of retinal pigmentation, Tr... ORPHA:96
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Choreoathetosis, Coma, Lethargy, Chorea, Hemiplegia/hemiparesis, Optic atrophy ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Choreoathetosis, Coma, Ataxia, Lethargy, Paraparesis, Optic atrophy ORPHA:27
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Abnormal corpus callosum morphology, Retinal degeneration, Abnormality of visio... ORPHA:442835
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Hypermetropia, Cerebellar hypoplasia, Myopia, Inability to walk, Ataxia, Microcephaly... OMIM:619556
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Horizontal eyebrow, Ptosis OMIM:619311
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Partial agenesis of the corpus callosum, Microcephaly, Epicanthus, Optic atrophy OMIM:245349
Huntington Disease-Like 1
Cerebellar atrophy, Abnormality of the basal ganglia, Ventriculomegaly, Cerebral cortical atrophy... ORPHA:157941
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Progressive microcephaly, Microcephaly, Hypoplasia of the corpus callosum, Dela... OMIM:616211
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Ventriculomegaly, Microcepha... OMIM:225790
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis OMIM:617732
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia... OMIM:312080
Craniosynostosis 6
Abnormal corpus callosum morphology, Agenesis of corpus callosum, Ptosis, Microcephaly, Dandy-Wal... OMIM:616602
Glutathionuria
Tremor OMIM:231950
Lissencephaly Type Iii And Bone Dysplasia
Agenesis of corpus callosum, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Polyhydr... OMIM:601160
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Excessive daytime somnolence, Ataxia, Paraparesis, Gait disturbance, Opt... ORPHA:99014
Early Myoclonic Encephalopathy
Myoclonus, Lethargy ORPHA:1935
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Rigidity, Chiari type I malformation, Tremor OMIM:617836
Intellectual Developmental Disorder, Autosomal Dominant 65
Upslanted palpebral fissure, Agenesis of corpus callosum, Thin eyebrow, Aggressive behavior, Dysg... OMIM:619320
4Q21 Microdeletion Syndrome
Generalized hirsutism, Agenesis of corpus callosum, Long eyelashes, Cerebellar hypoplasia, Self-i... ORPHA:238750
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Myoclonus,... OMIM:615924
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Failure to thrive, Thin corpus callosum, Myoclonus, Tremor OMIM:619651
Lissencephaly 6 With Microcephaly
Partial agenesis of the corpus callosum, Microcephaly, Simplified gyral pattern, Lissencephaly, P... OMIM:616212
Spastic Paraplegia 15, Autosomal Recessive
Spastic gait, Retinal degeneration, Spastic paraplegia, Ataxia, Abnormal cerebellum morphology, L... OMIM:270700
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypoplasia of the corpus callosum, Dysmetria, Dystonia, Abnormality of the basal ganglia, Myopia,... ORPHA:447896
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Infantile Cerebellar-Retinal Degeneration
Cerebellar atrophy, Decreased body weight, Progressive microcephaly, Athetosis, Ataxia, Microceph... OMIM:614559
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Confusion, Lethargy OMIM:613002
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Porphyria, Acute Hepatic
Paresthesia, Failure to thrive, Paralysis, Respiratory paralysis OMIM:612740
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Dysgyria, Hypoplasia of the brainstem, Type II lissencephaly, Abnormal mye... ORPHA:352682
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Visual impairment, Abnormality of the optic ... ORPHA:83629
Oculopharyngeal Muscular Dystrophy
Progressive ptosis OMIM:164300
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Onion bulb formation OMIM:610100
Gabriele-De Vries Syndrome
Dystonia, Long fingers, Waddling gait, Abnormal cerebral white matter morphology, Tremor OMIM:617557
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Choreoathetosis, Coma, Lethargy, Failure to thrive, Optic atrophy ORPHA:79312
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy, Demyelinating peri... ORPHA:101081
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Diffuse axonal swelling, Abnormality of the basal ganglia, Cerebellar hypoplasia, Partial agenesi... ORPHA:86822
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Failure to thrive, Delayed CNS myelination, Abnormal globus pallidus morphology OMIM:251000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Ptosis OMIM:253320
Insulinoma
Fluctuations in consciousness, Reduced consciousness/confusion, Abnormality of vision, Pituitary ... ORPHA:97279
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Cerebral edema, Coma, Ataxia, Lethargy, Failure to thrive, Episodic ataxia OMIM:311250
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral atrophy, CNS hypomyelination, Decreased motor nerve conduction velocity, Cerebral hypomy... OMIM:601170
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Microcephaly, Spasticity, Tremor OMIM:278780
Congenital Muscular Dystrophy With Cerebellar Involvement
Blindness, Cerebellar hypoplasia, Retinal detachment, Optic nerve hypoplasia, Microcephaly, Colob... ORPHA:370959
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Hypertrichosis Cubiti
Thick eyebrow, Abnormal eyelash morphology, Ptosis, Downslanted palpebral fissures, Abnormal eyel... ORPHA:2220
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia, Visual impairment OMIM:613703
Intellectual Developmental Disorder, X-Linked 12
Visual impairment, Small for gestational age, Tremor, Abnormal cerebellum morphology, Truncal obe... OMIM:300957
Mohr-Tranebjaerg Syndrome
Ankle clonus, Visual loss, Central scotoma, Color vision defect, Abnormal pyramidal sign, Shuffli... ORPHA:52368
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation, Decreased nerve conduction velocity OMIM:608236
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Excessive daytime somnolence, Ataxia, Gait disturbance, Tremor ORPHA:101075
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Agenesis of corpus callosum, Hyperintensity of cerebral white matter on MRI, Hypoplasia of the op... ORPHA:500144
Radio-Tartaglia Syndrome
Small nail, Upslanted palpebral fissure, Long eyebrows, Agenesis of corpus callosum, Long eyelash... OMIM:619312
Thiamine-Responsive Megaloblastic Anemia Syndrome
Visual loss, Lethargy, Paresthesia, Retinal dystrophy, Optic atrophy ORPHA:49827
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Upslanted palpebral fissure, CNS hypomyelination, Agenesis of corpus callosum, Progressive microc... ORPHA:481152
Combined Oxidative Phosphorylation Deficiency 24
CNS hypomyelination, Agenesis of corpus callosum, Ptosis, Microcephaly, Hypoplasia of the corpus ... OMIM:616239
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Axonal degeneration, Abnormal cerebral white matter morphology OMIM:618138
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Limb hypertonia, Lethargy, Rigidity, Hyperkinetic movements, Tremor OMIM:233910
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... OMIM:180800
Insulin-Like Growth Factor I Deficiency
Ptosis OMIM:608747
Aicardi-Goutieres Syndrome 6
Cerebral calcification, Dystonia, Loss of ability to walk, Microcephaly, Rigidity, Tremor OMIM:615010
Dihydropyrimidinase Deficiency
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Excessive daytime somnolence, Short phalanx o... OMIM:222748
Transient Neonatal Diabetes Mellitus
Dehydration, Failure to thrive, Small for gestational age ORPHA:99886
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Eyelid myoclonus, Abnormal pyramidal sign, Hypermetropia, Amblyopia, Cerebellar h... OMIM:618060
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:614120
Classic Galactosemia
Incoordination, Action tremor, Dystonia, Ataxia, Lethargy, Speech apraxia, Clumsiness, Gait distu... ORPHA:79239
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor OMIM:619405
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Congenital ptosis OMIM:254190
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Delayed myelination, Secondary microcephaly OMIM:618339
Neuronopathy, Distal Hereditary Motor, Type Iia
Paresis of extensor muscles of the big toe, Paralysis OMIM:158590
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hypoplastic toenails, Hyperintensity of cerebral white matter on MRI,... ORPHA:544488
Myopathy With Extrapyramidal Signs
Cerebellar dysplasia, Frequent falls, Dystonia, Choreoathetosis, Amblyopia, Perisylvian polymicro... OMIM:615673
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Intellectual Developmental Disorder, Autosomal Dominant 30
Ptosis OMIM:616083
Neuroferritinopathy
Dystonia, Focal dystonia, Abnormal caudate nucleus morphology, Iron accumulation in globus pallid... ORPHA:157846
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Microcephaly, Abnormal basal ganglia MRI signal i... ORPHA:79326
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Agenesis of corpus callosum, Basal ganglia cysts, Lymphedema, Epicanthus, Oligohydramnios OMIM:613623
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Parkinsonism, Dystonia, Oromandibular... OMIM:614298
Central Diabetes Insipidus
Dehydration, Anxiety, Failure to thrive, Weight loss ORPHA:178029
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Myelin outfoldings,... OMIM:118220
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal pyramidal sign, Spastic gait, Impaired vibratory sensation, Coma, Confusion, Spastic par... ORPHA:415
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Failure to thrive, Downslanted palpebral fissures, Agenesis of corpus callosum OMIM:612940
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Martsolf Syndrome 2
Microcephaly, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:619420
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Corticospinal tract hypoplasia, Hydrocephalus, Absent septum pelluci... OMIM:307000
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Apraxia, Bradykinesia, Gait ataxia, Tr... OMIM:137440
Lamellar Ichthyosis
Abnormality of the nail, Cognitive impairment, Aplasia/Hypoplasia of the eyebrow, Ectropion, Dehy... ORPHA:313
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Parkinsonism, Abnormal pyramidal sign, Dystonia, Generalized cerebral atrophy... ORPHA:98759
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Cerebral edema, Coma, Ataxia, Lethargy, Failure to thrive OMIM:237300
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Spinocerebellar Ataxia 29
Dysmetria, Cerebellar vermis atrophy, Diffuse cerebellar atrophy, Intention tremor, Gait ataxia, ... OMIM:117360
Cyclic Vomiting Syndrome
Microcephaly, Ataxia, Lethargy OMIM:500007
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Abnormal corpus callosum morphology, EEG abnormality, Cerebellar hypoplasia, Hy... ORPHA:565624
Acromelic Frontonasal Dysostosis
Agenesis of corpus callosum, Hypopituitarism, Ptosis, Downslanted palpebral fissures, Onychogrypo... OMIM:603671
Riboflavin Transporter Deficiency
Color vision defect, Visual impairment, Ataxia, Optic disc pallor, Abnormality of macular pigment... ORPHA:97229
Congenital Disorder Of Glycosylation, Type Ie
Retinopathy, Abnormal macular morphology, Short palm, Pontocerebellar atrophy, Upper limb undergr... OMIM:608799
Hyperphenylalaninemia, Bh4-Deficient, C
Cerebral calcification, Dystonia, Choreoathetosis, Tremor, Microcephaly, Myoclonus, Hypertonia OMIM:261630
Medulloblastoma
Cerebellar ataxia associated with quadrupedal gait, Dysmetria, Cerebellar calcifications, Cerebel... ORPHA:616
Greig Cephalopolysyndactyly Syndrome
Telecanthus, Agenesis of corpus callosum ORPHA:380
Intellectual Disability-Strabismus Syndrome
Upslanted palpebral fissure, Agenesis of corpus callosum, Diffuse demyelination of the cerebral w... ORPHA:363528
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Diplop... ORPHA:98773
Baraitser-Winter Syndrome 1
Agenesis of corpus callosum, Highly arched eyebrow, Ptosis, Microcephaly, Lissencephaly, Failure ... OMIM:243310
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Ataxia, Microcephaly, Progressive extrapyramidal... ORPHA:401768
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Dysmetria, Hypertonia, Clinodactyly of the 5th finger, Tremor, Abnormal cereb... OMIM:618056
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude OMIM:619112
Corticobasal Syndrome
Somatic sensory dysfunction, Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Akinesi... ORPHA:454887
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... OMIM:615376
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, From... OMIM:162500
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary movements, Inability... ORPHA:3095
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Spastic paraparesis, Lower limb spasticity, Ataxia, Lethargy, Microcephaly, Upper motor neuron dy... ORPHA:395
Charcot-Marie-Tooth Disease Type 4A
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Demyelin... ORPHA:99948
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Spinocerebellar Ataxia Type 36
Dysmetria, Hand tremor, Intention tremor, Head tremor, Fasciculations, Ataxia, Truncal ataxia, Bl... ORPHA:276198
Intellectual Developmental Disorder, Autosomal Dominant 36
Agenesis of corpus callosum, Microcephaly, Downslanted palpebral fissures, Delayed CNS myelinatio... OMIM:616362
Microhydranencephaly
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Athetosis, Ventriculomegaly,... OMIM:605013
Frontonasal Dysplasia 1
Widow's peak, Agenesis of corpus callosum, Pericallosal lipoma, Ptosis, Epicanthus OMIM:136760
Early-Onset X-Linked Optic Atrophy
Emotional lability, Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity ORPHA:98890
Al-Gazali-Bakalinova Syndrome
Lymphedema, Agenesis of corpus callosum OMIM:607131
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum OMIM:617127
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Visual loss, Parkinsonism, Resting tremor, Shuffling gait, Intention tremor, Cerebellar cortical ... ORPHA:247234
Biotinidase Deficiency
Visual loss, Ataxia, Lethargy, Diffuse cerebral atrophy, Optic atrophy, Diffuse cerebellar atrophy OMIM:253260
Aceruloplasminemia
Parkinsonism, Retinal degeneration, Dystonia, Abnormal thalamic MRI signal intensity, Blepharospa... ORPHA:48818
Ophthalmoplegia, External, And Myopia
Spina bifida, Ptosis OMIM:311000
Spastic Ataxia 1, Autosomal Dominant
Ptosis OMIM:108600
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Central scotoma, Hypertonia, Abnormal corpus callosum morphology, Abnormality... ORPHA:543470