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, Polymicrogyria, Hirsutism, S... 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 Similarity of
phenotypes
Matching phenotypes Source
Oculomotor-Levator Synkinesis
Ptosis, Abnormal eyelid morphology, Eyelid retraction OMIM:151610
Marcus Gunn Phenomenon
Congenital ptosis, Unilateral ptosis OMIM:154600
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Cer... OMIM:604213
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Polyhydramnios, Telecanthus, Agenesis of corpus callosum, Narrow palpebral fissure, B... OMIM:300073
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... OMIM:614019
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the corpus callosum, Congenital fibrosis of extraocular muscles, Cerebellar vermis ... OMIM:610031
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Highly arched eyebrow, Cortical dysplasia, Small cerebral cort... OMIM:608716
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Primary mic... ORPHA:171703
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, EEG with focal slow activity, EEG with focal spikes, Polymicro... ORPHA:101029
Macrocephaly, Acquired, With Impaired Intellectual Development
Thin corpus callosum, Sparse eyebrow, Downslanted palpebral fissures, Probst bundles, Agenesis of... OMIM:618286
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech, Blurred vision OMIM:160120
Isolated Corpus Callosum Agenesis
Bradyphrenia, Short attention span, Agenesis of corpus callosum ORPHA:200
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti... OMIM:614039
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... OMIM:617018
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Mild malformation of cortical development, Abnormal... ORPHA:500166
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Hypertonia, Tetraplegia, Coloboma, Failure to thrive, Agenesis of corpus callosum,... OMIM:274270
Developmental And Epileptic Encephalopathy 92
Difficulty walking, Inability to walk, Spasticity, Cerebral visual impairment, Dystonia, Ataxia, ... OMIM:617829
Glut1 Deficiency Syndrome 1
Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo... OMIM:606777
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar verm... ORPHA:401830
Ventriculomegaly And Arthrogryposis
Cerebellar hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia of the cerebellar verm... ORPHA:401820
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Hypoplasia of the corpus callosum, Upslanted palpebral fissure, Microcephaly, S... OMIM:618492
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Retinopathy, Failure to thrive, Lethargy, Amblyopia ORPHA:26
Gaba-Transaminase Deficiency
EEG with burst suppression, Downslanted palpebral fissures, Agenesis of corpus callosum, Cerebell... OMIM:613163
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Ataxia, Visual impairment, Rod-cone dystrophy, Aplasia/Hypoplasia of the cerebe... ORPHA:1178
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Dystonia OMIM:618276
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Tremor, Ataxia OMIM:213000
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Decreased body weight, Ptosis, Simplified gyral pattern, Agenesis of corpus callosum... OMIM:616681
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Dysplastic corpus callosum, Secondary microcephaly, Reduced cerebral white matter volume, Synophr... OMIM:620317
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Ataxia, Lethargy, Visual impairment ORPHA:622
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis, Agenesis of corpus callosum OMIM:618197
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Vocal Cord Paralysis And Ptosis
Bilateral ptosis OMIM:193240
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation ORPHA:217012
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ata... OMIM:616053
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Primary microcephaly, Microlissencephaly, Failure to thrive, L... OMIM:617090
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Oromandibular dystonia, Depression, Chorea, Spasticity, Tremor, Upper motor neuron... ORPHA:216873
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Death in infancy, Cerebral hypoplasia, Lateral ventricle dilatation, Cerebellar... OMIM:618266
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia... ORPHA:71277
Cerebrooculofacioskeletal Syndrome 1
Blepharophimosis, Hirsutism, Dehydration, Delayed myelination, Microcephaly, CNS demyelination, D... OMIM:214150
Migraine, Familial Hemiplegic, 1
Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia, Transient unilateral blurring of vision OMIM:141500
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Distal sensory impairment, Paralysis, Lethargy, Talipes equinovarus OMIM:613710
Leukoencephalopathy, Progressive, With Ovarian Failure
Periventricular leukomalacia, Cerebellar atrophy, Dystonia, Progressive leukoencephalopathy, Late... OMIM:615889
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Upper limb postural tr... ORPHA:98769
Warburg Micro Syndrome 1
Optic atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia,... OMIM:600118
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A... ORPHA:300573
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cerebellar vermis atrophy, Cogwheel... ORPHA:363710
Lissencephaly 3
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Agyria, Microcep... OMIM:611603
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Dysgenesis of the basal g... OMIM:615771
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Abnormal ... ORPHA:85179
Congenital Disorder Of Glycosylation, Type Iiy
Thin corpus callosum, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Delay... OMIM:620200
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Adult Neuronal Ceroid Lipofuscinosis
Visual loss, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Aplasia/Hypoplasia... ORPHA:79262
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic gait, Impaired vibratory sensation, Truncal ataxia, Chorioretinal atrophy, Spasticity, Dy... OMIM:238970
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:101150
Developmental And Epileptic Encephalopathy 40
Spasticity, Spastic tetraparesis, Myoclonus, Small for gestational age, Choreoathetosis, Lethargy OMIM:617065
Leukoencephalopathy With Vanishing White Matter 5
Megalencephaly, Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventr... OMIM:620315
Central Neurocytoma
Abnormal lateral ventricle morphology, Babinski sign, Depression, Abnormality of vision, Ataxia, ... ORPHA:73256
Behr Syndrome
Optic atrophy, Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Progressive spas... OMIM:210000
Cerebrooculofacioskeletal Syndrome 3
Microcephaly, Cerebellar hypoplasia, Edema, Agenesis of corpus callosum OMIM:616570
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Macular dystrophy, Hypertonia, Spasticity, Tremor, Abnormal optic nerve morphology... ORPHA:33445
Lissencephaly 7 With Cerebellar Hypoplasia
Agyria, Hirsutism, Lymphedema, Microcephaly, Neonatal death, Low anterior hairline, Agenesis of c... OMIM:616342
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebellar atrophy, Gait d... ORPHA:98762
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Death in infancy, Hypoplasia of the pons, Dystonia, Simplified gyral pattern, Agen... OMIM:619301
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Cerebellar atrophy, Limb tremor, Ataxia, Loss of ambulation, Myoclonus, Clums... OMIM:256731
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Telecanthus, Upslanted palpebral fissure, Microcephaly, Failure to thrive, Epicanthus, Agenesis o... OMIM:615286
Severe Canavan Disease
Optic atrophy, Babinski sign, Inability to walk, Decerebrate rigidity, Spasticity, Lethargy, Blin... ORPHA:314911
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
2p15-16.1 microdeletion syndrome
Ptosis, Downslanted palpebral fissures, Telecanthus DECIPHER:70
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Scotoma, Abnormality of extrapyramidal motor function, Tremor, Reduced visual acui... OMIM:165300
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Ptosis, Upslanted palpebral fissure, Epicanthus OMIM:620086
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Periventricular leukomalacia, Agenesis of corpus callosum, Delayed CNS myelination OMIM:618324
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Hypsarrhythmia, Cerebral white matter atrophy, EEG with focal epilept... ORPHA:599373
Usmani-Riazuddin Syndrome, Autosomal Recessive
Conjunctival hyperemia, Epicanthus, Agenesis of corpus callosum OMIM:619548
Autosomal Recessive Spastic Paraplegia Type 21
Hypoplasia of the corpus callosum, Frontotemporal cerebral atrophy, Dementia, Abnormality of peri... ORPHA:101001
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Death in infancy, Dystonia, Simplified gyral pattern, Agenesis of corpus callosum,... OMIM:619302
Myasthenic Syndrome, Congenital, 15
Ptosis OMIM:616227
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Cerebellar Ataxia, Cayman Type
Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor... OMIM:601238
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... OMIM:615768
Developmental And Epileptic Encephalopathy 88
Inferior cerebellar vermis hypoplasia, Hypsarrhythmia, Progressive microcephaly, Hypoplasia of th... OMIM:618959
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Retinal dysplasia OMIM:615041
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... ORPHA:101110
Myasthenic Syndrome, Congenital, 8
Ptosis OMIM:615120
Lissencephaly Due To Tuba1A Mutation
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Poly... ORPHA:171680
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, M... OMIM:617810
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal basal ganglia morphology, Abnormal ... ORPHA:255182
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Colpocephaly ORPHA:401815
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:607317
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Depression, Dysdiadochokinesis, Cerebellar atrophy... OMIM:604326
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Failure to thrive, Head titubation, Dystonia, Ataxia, Agenesis of corpus callosum... OMIM:250620
Mitochondrial Complex I Deficiency, Nuclear Type 3
Abnormality of extrapyramidal motor function, Dystonia, Ataxia, Abnormal pyramidal sign, Lethargy OMIM:618224
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
3Q13 Microdeletion Syndrome
Epicanthus, Agenesis of corpus callosum ORPHA:1621
Band Heterotopia
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Subcort... OMIM:600348
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Babinski sign, Spasticity, Spastic tetraparesis, Cerebellar atrophy, Gait disturbance, Failure to... OMIM:615838
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Aplasia of the inferior half of the cerebellar vermis, Atrophy of the dentate nucleus, Broad-base... OMIM:610185
Chronic Hiccup
Depression, Dehydration, Weight loss ORPHA:396
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Interictal epil... OMIM:218000
Myasthenic Syndrome, Congenital, 13
Ptosis OMIM:614750
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Babinski sign, Cerebellar atrophy, Failure to thrive, Dystonia, Ataxia, Lethargy OMIM:618226
Myasthenic Syndrome, Congenital, 18
Ptosis OMIM:616330
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Polyhydramnios, Frontal cortical atrophy, Microcephaly, Parietal cortical atrophy,... OMIM:618766
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Death in childhood, Cerebellar hypoplasia, Hydrocephalus, Dandy-Walker malformat... OMIM:613153
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:611302
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Retinal dystrophy, Hypermetropia, Oculomo... ORPHA:370022
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Abnormal lacrimal duct morphology, Synophrys, Ptosis, Epicanthus, Blepharophimosis ORPHA:126
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Lethargy, Gait disturbance ORPHA:79283
Spinocerebellar Ataxia 48
Babinski sign, Depression, Chorea, Cachexia, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, A... OMIM:618093
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Gait ataxia, Rigidity, Ataxia, Optic atrophy, Babinski sign, Hypertonia, Tip-... OMIM:614877
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Cerebellar atrophy, Cer... ORPHA:488635
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Depression, Tremor, Cerebell... OMIM:616795
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Superior rectus atrophy, Facial palsy, Hypoplastic anterior co... OMIM:600638
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo... ORPHA:314978
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Microcephaly, Ptosis, Sparse eyebrow, Downslanted palpebral fissures, Agenesis of corpus callosum... OMIM:619989
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Hirsutism, Long eyelashes, Low anterior hairline, Thick eyebrow, Sp... OMIM:616819
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Depression, Truncal ataxia, Red-green dyschromatopsia,... ORPHA:98764
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Hypertonia, Failure to thrive, Dystonia, Lethargy ORPHA:26792
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Depression, Abnormality of extrapyramidal motor function, Tremor, Cerebellar atrop... OMIM:615362
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume, Simplif... OMIM:615095
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Cerebellar atrophy, Microcephaly, Dystonia OMIM:252650
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis ORPHA:2997
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Depression, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Cerebe... OMIM:213600
Corpus Callosum, Partial Agenesis Of, X-Linked
Hypoplasia of the corpus callosum, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Microcep... OMIM:304100
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Cerebellar... ORPHA:521406
Dystonia 31
Abnormal posturing, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm dystonia, Generalize... OMIM:619565
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Failure to thrive, Ptosis, Agenesis of corpus callosum, Caudate atrophy OMIM:618238
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Paralysis, Difficulty walking OMIM:608634
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Pontocerebellar Hypoplasia, Type 6
Lower limb spasticity, Appendicular spasticity, Cerebellar vermis hypoplasia, Spasticity, Cerebel... OMIM:611523
Leukodystrophy, Hypomyelinating, 18
Secondary microcephaly, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy,... OMIM:618404
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia, Lethargy OMIM:618683
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Ataxia, Myoclonus OMIM:616187
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Bilateral coxa valga, Tremor, Limb dystonia, Obesity, Ataxia, Cerebellar hypoplasia OMIM:620270
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Palpebral edema, Cerebellar vermis hypoplasia, Highly arched eyebrow, Hirsutism, Long eyelashes, ... ORPHA:466688
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cerebellar cyst, Abnormal cortical... ORPHA:2524
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Hypermetropia, Broad-based gait, Spasticity, ... OMIM:617695
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Thick cerebral cortex, Lateral ventricle dilatation, Cerebral hypoplasia ORPHA:101071
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Epican... ORPHA:502430
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria OMIM:607458
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Spasticity, Gait disturbance, Unsteady gait, Lethargy, Blindness OMIM:603896
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor... OMIM:302500
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Death in infancy, Microcephaly, Cerebral cortical atrophy, Dystonia, Abnormal cerebral white matt... OMIM:617668
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Episodic ataxia, Dystonia, Agenesis of corpus callosum, Myoclonus, Small for gestational ... OMIM:312170
Spastic Paraplegia 11, Autosomal Recessive
Hypoplasia of the corpus callosum, Abnormal periventricular white matter morphology, Cerebral cor... OMIM:604360
Peroxisome Biogenesis Disorder 5B
Retinal dystrophy, Oculomotor apraxia, Tremor, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady ga... OMIM:614867
Combined Oxidative Phosphorylation Deficiency 2
Edema, Neonatal death, Small for gestational age, Agenesis of corpus callosum OMIM:610498
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, ... ORPHA:453521
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Microcephaly, Cerebral cortical atrophy, Abnormal hair pattern, Generalized hirsutism, Agenesis o... ORPHA:2508
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis OMIM:192800
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Cerebellar atrophy, Gait disturbance, Ac... OMIM:300423
Linear Skin Defects With Multiple Congenital Anomalies 2
Hypoplasia of the corpus callosum, Nail dystrophy, Highly arched eyebrow, Delayed myelination, Mi... OMIM:300887
Foxg1 Syndrome
Hypoplasia of the corpus callosum, Progressive microcephaly, Abnormal corpus callosum morphology,... ORPHA:561854
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Cerebellar vermis atrophy, Gait ataxia, Dilated ... OMIM:213200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Babinski sign, Optic atrophy, Inability to walk by ch... ORPHA:99947
Autosomal Recessive Spastic Paraplegia Type 71
Hypoplasia of the corpus callosum, Abnormal myelination ORPHA:401840
Alpha-Methylacyl-Coa Racemase Deficiency
Constriction of peripheral visual field, Depression, Spasticity, Tremor, Intention tremor, Hemipa... OMIM:614307
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Motor deterioration, Abnormal periventricular white matter m... OMIM:249900
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Depression, Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinson... ORPHA:401901
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Failure to thrive, Ataxia, Abnormal pyramidal sign, Lethargy, Optic disc pallor OMIM:618228
Combined Oxidative Phosphorylation Deficiency 50
Microcephaly, Partial agenesis of the corpus callosum OMIM:619025
Epilepsy, Progressive Myoclonic, 9
Simplified gyral pattern, Agenesis of corpus callosum OMIM:616540
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Hammertoe, Tremor, Cerebellar atrophy, Gait ataxia, Ata... OMIM:618387
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid... ORPHA:98763
Glycine Encephalopathy 1
Irritability, Agenesis of corpus callosum OMIM:605899
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum ORPHA:166024
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Nail dysplasia, Nail dystrophy, Trichorrhexis nodosa, Small nail, Brittle hair, Ab... OMIM:234050
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Impaired tactile s... OMIM:617225
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Dandy-Walker malformation, Microcephaly, Hypoplasia of the pons, Downslan... OMIM:618736
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Decreased distal sensory nerve action potential, Decreased sensor... ORPHA:206594
Cednik Syndrome
Optic atrophy, Polymicrogyria, Abnormal corpus callosum morphology, Microcephaly, Downslanted pal... ORPHA:66631
Craniotelencephalic Dysplasia
Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypop... ORPHA:1528
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impa... ORPHA:137898
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic... OMIM:615157
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Bradykinesia, Distal sensory impairment, Dyschromatopsia, Depression, Optic neurit... ORPHA:254886
Craniosynostosis 3
Ptosis, Low anterior hairline, Partial agenesis of the corpus callosum OMIM:615314
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Chronic Inflammatory Demyelinating Polyneuropathy
Decreased nerve conduction velocity, Abnormal nerve conduction velocity, Motor conduction block, ... ORPHA:2932
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Depression, Craniofacial dystonia, Cerebellar atrophy,... ORPHA:71517
Microphthalmia-Brain Atrophy Syndrome
Cerebellar vermis atrophy, Corpus callosum atrophy, Microcephaly, Diffuse cerebral atrophy, Later... ORPHA:77299
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebral atrophy, Hypoplasia of the pons, Microcephaly, Simplified gyral pattern, ... OMIM:616171
Isolated Atp Synthase Deficiency
Optic atrophy, Tetraplegia, Cerebellar atrophy, Spastic paraplegia, Dystonia, Ataxia, Rod-cone dy... ORPHA:254913
Poretti-Boltshauser Syndrome
Retinal thinning, Cerebellar cyst, Retinal dystrophy, Oculomotor apraxia, Cerebellar vermis hypop... OMIM:615960
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Orbital cyst, Agenesis of corpus ca... OMIM:164180
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin corpus callosum, Death in childhood, Abnormal dentate nucleus morphology, Microcephaly, Late... OMIM:619517
Idiopathic Intracranial Hypertension
Visual loss, Photophobia, Depression, Papilledema, Obesity, Blurred vision, Scintillating scotoma... ORPHA:238624
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Basal ganglia gliosis, Cerebral cortical atrophy, H... OMIM:607596
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic... OMIM:128230
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Unilateral ptosis, Unilateral narrow palpebral fissure OMIM:182875
Microcephaly, Amish Type
Optic atrophy, Irritability, Cerebellar vermis hypoplasia, Failure to thrive, Cerebellar hypoplas... OMIM:607196
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Progressive ptosis OMIM:164300
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Chiari type I malformation, Agenesis of corpus callosum ORPHA:459074
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Hypertonia, Steppage gait, Scotoma, Distal sensory impairment, Prog... OMIM:616505
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ... OMIM:614831
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Ataxia, Myoclonus, Myopia OMIM:616494
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Spastic Paraplegia 79B, Autosomal Recessive
Visual loss, Fasciculations, Cerebellar atrophy, Spastic paraplegia, Head titubation, Ataxia, Red... OMIM:615491
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased nerve conduction... OMIM:611228
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga... OMIM:618090
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Decreased m... OMIM:601098
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Microcephaly, Pachygyria, Agenesis of corpus callosum, Upslanted... ORPHA:2512
Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Chorea, Spasticity, Tremor, Poor fine motor coordination, Cerebellar atrophy, Myoclo... ORPHA:79263
Imagawa-Matsumoto Syndrome
Polymicrogyria, Downslanted palpebral fissures, Hypertrichosis, Agenesis of corpus callosum OMIM:618786
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Dyst... OMIM:617435
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ... ORPHA:79243
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypertonia, Hyperkinetic movements, Gait disturbance, Failure to thrive, Lethargy, Blindness OMIM:236270
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Distal sensory impairment, Hammertoe, Fasciculations, Tremor OMIM:615048
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Optic atrophy, Decreased body weight, Microcephaly, Failure to thrive, Small for gestational age,... OMIM:618346
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Hypoplasia of the corpus callosum, Microcephaly, Failure to thrive, Abnormal globus pallidus morp... OMIM:618603
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Cerebellar atrop... ORPHA:330050
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Boucher-Neuhauser Syndrome
Retinal dystrophy, Photophobia, Spinocerebellar atrophy, Abnormal upper motor neuron morphology, ... OMIM:215470
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Ga... ORPHA:529665
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Decreased ... ORPHA:90103
Masa Syndrome
Microcephaly, Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Combined Malonic And Methylmalonic Acidemia
Microcephaly, Failure to thrive, Dehydration, Memory impairment ORPHA:289504
Primary Angiitis Of The Central Nervous System
Pseudopapilledema, Amaurosis fugax, Paraparesis, Hemiparesis, Abnormal visual field test, Ataxia,... ORPHA:140989
Baraitser-Winter Syndrome 2
Secondary microcephaly, Telecanthus, Highly arched eyebrow, Long palpebral fissure, Ptosis, Pachy... OMIM:614583
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Hypogonadotropic hypogonadism, Agenesis of corpus callosum ORPHA:238722
Spinocerebellar Ataxia 2
Oculomotor apraxia, Fasciculations, Cerebellar atrophy, Action tremor, Rigidity, Ataxia, Myoclonu... OMIM:183090
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Ataxia, Myoclonus, Lethargy, Blindness OMIM:618225
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Antalgic... OMIM:620546
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Polyhydramnios, Dehydration, Long eyelashes OMIM:616069
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... OMIM:617145
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Death in childhood, Hydrocephalus, Cerebella... OMIM:616034
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Tremor, Dystonia, Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Optic atrophy, Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Microcephaly, Si... OMIM:620428
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Microcepha... OMIM:609637
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, At... OMIM:612438
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Moto... OMIM:245200
Combined Oxidative Phosphorylation Deficiency 47
Microcephaly, Failure to thrive, Dehydration, Ptosis OMIM:618958
Congenital Neuronal Ceroid Lipofuscinosis
Cerebral hypoplasia, Microcephaly, Diffuse demyelination of the cerebral white matter, Agenesis o... ORPHA:168486
6Q25 Microdeletion Syndrome
Microcephaly, Failure to thrive, Downslanted palpebral fissures, Epicanthus, Agenesis of corpus c... ORPHA:251056
Even-Plus Syndrome
Dysplastic corpus callosum, Highly arched eyebrow, Synophrys, Agenesis of corpus callosum, Sparse... OMIM:616854
Citrullinemia Type I
Scotoma, Torticollis, Spasticity, Failure to thrive, Ataxia, Ankle clonus, Lethargy, Slurred speech ORPHA:247525
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ... OMIM:607483
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular ... OMIM:616900
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi... OMIM:620158
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum OMIM:619466
Craniotelencephalic Dysplasia
Lissencephaly, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Absent... OMIM:218670
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased number of peripheral myelin... OMIM:609260
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Lateral ventricle dilatation OMIM:300982
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Decreased body weight, Microc... OMIM:614833
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ... ORPHA:255138
Susac Syndrome
Somatic sensory dysfunction, Visual loss, Upper motor neuron dysfunction, Gait ataxia, Apathy, Le... ORPHA:838
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Impaired tandem gait, Dysme... OMIM:619028
Holoprosencephaly 11
Microcephaly, Thick eyebrow, Agenesis of corpus callosum, Synophrys OMIM:614226
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of ambulation, Dysmetria OMIM:617916
Lissencephaly 6 With Microcephaly
Hypoplasia of the corpus callosum, Polymicrogyria, Microlissencephaly, Synophrys, Microcephaly, A... OMIM:616212
Ring Chromosome 22 Syndrome
Toenail dysplasia, Azoospermia, Lymphedema, Pleural effusion, Microcephaly, Thick eyebrow, Agenes... ORPHA:1446
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:605253
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Bradykinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkinsonism, Spasti... ORPHA:329284
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye... OMIM:601382
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of a... OMIM:607694
Pyruvate Dehydrogenase Deficiency
Osteolytic defects of the middle phalanx of the 4th toe, Spasticity, Tremor, Cerebral palsy, Gait... ORPHA:765
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Onion bul... OMIM:608323
Parkinsonism With Polyneuropathy
Decreased compound muscle action potential amplitude, Depression, Decreased amplitude of sensory ... OMIM:619279
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis atrophy, Spast... OMIM:616719
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Chorea, Hemiplegia/hemiparesis, Dystonia, Choreoathetosis, Lethargy ORPHA:289916
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, CNS hypo... ORPHA:280234
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Telecanthus, Upslanted palpebral fissure, Agenesis of cerebellar vermis, Hypogonadism, Agenesis o... ORPHA:228390
4H Leukodystrophy
Optic atrophy, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper mo... ORPHA:289494
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Difficulty walking OMIM:158580
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Irritability, Secondary microcephaly, Thin corpus callosum, Hypsarrhythmia, Reduce... OMIM:620352
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Tremor, Gait ataxia... ORPHA:254881
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Azoospermia, Low posterior hairline, Microcephaly, Agenesis ... ORPHA:261519
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Depression, Tremor, Parkinsonism with favorable response to dopamine... ORPHA:314632
Chromosome 3Q13.31 Deletion Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus, Agenesis of corpus callosum, Attention defici... OMIM:615433
Classic Galactosemia
Gait imbalance, Depression, Incoordination, Gait disturbance, Action tremor, Speech apraxia, Dyst... ORPHA:79239
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis OMIM:617732
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Sparse lateral eyebrow, Microcephaly, Ptosis, Colpocephaly, Agenesis ... OMIM:619955
Joubert Syndrome 30
Polymicrogyria, Dandy-Walker malformation, Cerebellar atrophy, Agenesis of corpus callosum, Ventr... OMIM:617622
Early Myoclonic Encephalopathy
Lethargy, Myoclonus ORPHA:1935
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Depression, Tremor, Myoclonus OMIM:159900
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ... ORPHA:93952
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Apathy, Short steppe... ORPHA:306692
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Irritability, Cerebral atrophy, Decreased nerve conduction velocity, Abnormal peri... ORPHA:457205
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Bilateral Frontoparietal Polymicrogyria
Cerebral dysmyelination, Cerebellar vermis hypoplasia, Cortical dysplasia, Microcephaly, Cerebell... ORPHA:101070
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Horizontal eyebrow, Ptosis, Epicanthus OMIM:619311
Porphyria, Acute Hepatic
Paralysis, Failure to thrive, Paresthesia, Respiratory paralysis OMIM:612740
Pelizaeus-Merzbacher Disease
Optic atrophy, Generalized dystonia, Writer's cramp, Inability to walk, Broad-based gait, Depress... OMIM:312080
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decr... OMIM:609311
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Abnormality of ... ORPHA:96
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Failure to thrive, Dystonia, Choreoathetosis, Lethargy ORPHA:79312
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Dystonia, Myoclonus, Abnormal pyramida... ORPHA:139485
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Chiari type I malformation, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the pons, Agenesis of corpus c... OMIM:617542
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the corpus callosum, Irritability, Hyperintensity of cerebral white matter on MRI, ... ORPHA:481152
Lethal Congenital Contracture Syndrome 7
Paralysis, Cerebellar atrophy OMIM:616286
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Choreoathetosis, Lethargy OMIM:233910
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Short corpus callosum OMIM:619972
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Abnormal basal ganglia morphology, Abnormal corpus callosum ... ORPHA:319514
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Ptosis, Decreased number o... OMIM:605285
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Ataxia, Lethargy OMIM:246900
Central Diabetes Insipidus
Depression, Failure to thrive, Dehydration, Weight loss ORPHA:178029
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Depression, Cerebellar vermis hypoplasia, Spasticity, Tremor, Gait distur... OMIM:300957
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Interictal epileptiform activity, Cerebellar vermis hypoplasia, Micro... OMIM:620001
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Chorea, Rigidity, Ataxia, Reduced visual acuity, Myoclonus, Clumsiness, Optic atrophy, Babinski s... OMIM:617282
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Onion bulb formation, Decreased number of periph... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Facial palsy, Ptosis, Decreased motor nerve cond... OMIM:607684
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Optic atrophy, Partial agenesis of the corpus callosum, Epicanthus, Microcephaly OMIM:245349
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paresis of extensor muscles of the big toe, Paralysis OMIM:158590
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Cerebral calcification, Cachexia, Microcephaly, Abnormality ... ORPHA:1933
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Broad eyebrow, Highly arched eyebrow, Hirsutism, Woolly hair, Corpus callosum a... OMIM:619244
Pyruvate Dehydrogenase E3 Deficiency
Spasticity, Failure to thrive, Ataxia, Reduced visual acuity, Lethargy ORPHA:2394
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Abnormality of extrapyramidal motor function, Spasticity, Ataxia, Myoclonus, Letha... OMIM:614299
Intellectual Developmental Disorder, Autosomal Dominant 65
Low posterior hairline, Synophrys, Thin eyebrow, Agenesis of corpus callosum, Attention deficit h... OMIM:619320
Fg Syndrome 3
Frontal upsweep of hair, Fine hair, Agenesis of corpus callosum, Sparse hair OMIM:300406
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Facial palsy, Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number o... OMIM:118210
Dystonia 12
Bradykinesia, Torticollis, Depression, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Paraparesis, Ataxia, Choreoathetosis, Tetraparesis, Lethargy ORPHA:27
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Visual impairment OMIM:613703
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Depression, Chorea, Tremor, Cerebellar atrophy, Action tremor... OMIM:619738
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Secondary microcephaly, Polyhydramnios, Hypsarrhythmia, Hypoplasia of the pons, In... ORPHA:500144
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities... OMIM:619737
Chromosome 5P13 Duplication Syndrome
Short palpebral fissure, Blepharophimosis, Low posterior hairline, Long palpebral fissure, Epican... OMIM:613174
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Hypsarrhythmia, Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Cerebellar hypoplas... OMIM:620316
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Visual loss, Retinal dystrophy, Lethargy, Paresthesia ORPHA:49827
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Depression, Abnormali... OMIM:614298
Srd5A3-Cdg
Optic atrophy, Visual loss, Optic disc hypoplasia, Abnormal cerebellar vermis morphology, Colobom... ORPHA:324737
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Spasticity, Gait disturbance, Slender finger, Failure to thrive, Poor coordination, Lethargy, Bli... OMIM:250940
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Agenesis of corpus callosum OMIM:617127
Hsd10 Disease
Optic atrophy, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreo... ORPHA:391417
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Transient Neonatal Diabetes Mellitus
Failure to thrive, Dehydration, Small for gestational age ORPHA:99886
Spinocerebellar Ataxia Type 1
Optic atrophy, Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalan... ORPHA:98755
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Hypermetropia, Tremor, Failure to thrive, Ataxia, Myopia, Cerebell... OMIM:619556
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Secondary microcephaly, Abnormal cerebellar vermis morphology, Cerebe... ORPHA:357058
Charcot-Marie-Tooth Disease, Type 4B3
Microcephaly, Decreased nerve conduction velocity, Onion bulb formation, Myelin outfoldings OMIM:615284
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, High myopia, Cerebellar vermis atrophy, Spasticity, Tremor, Dysdiadochokinesis, Ce... OMIM:614381
Houge-Janssens Syndrome 2
Hypoplasia of the corpus callosum, Microcephaly, Downslanted palpebral fissures, Agenesis of corp... OMIM:616362
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction velo... ORPHA:99939
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Lateral ventricle dilatation OMIM:616816
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased sensory nerve conduction velocity, Demyelinating peripheral neuropathy, Cachexia, Abnor... ORPHA:298
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607734
Alg2-Cdg
Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, Microcephaly, Lat... ORPHA:79326
Radio-Tartaglia Syndrome
High anterior hairline, Small nail, Highly arched eyebrow, Hirsutism, Long eyebrows, Long eyelash... OMIM:619312
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Congenital ptosis OMIM:254190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Aplasia of the inferior half of the cerebellar vermis, Hydrocephalus, Dandy-Walker malformation, ... OMIM:613154
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619420
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum, ... OMIM:307000
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Lethargy OMIM:617900
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Difficulty walking, Limb hypertonia, Spasticity, Abnormality of vision, Tremor, In... ORPHA:442835
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Hypertrichosis Cubiti
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... ORPHA:2220
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal periventricular white matter morphology, Dilated fourth ventricle, Abnormal cerebral whi... OMIM:613443
Lamellar Ichthyosis
Ectropion, Abnormality of the nail, Dehydration, Cognitive impairment, Sparse hair, Aplasia/Hypop... ORPHA:313
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Hypoplasia of the corpus callosum, Hyperintensity of cerebral white matter on M... ORPHA:565624
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia, Onion bulb formation, Decreased numbe... OMIM:618184
Huntington Disease-Like 2
Bradykinesia, Depression, Chorea, Inertia, Action tremor, Rigidity, Dystonia, Weight loss, Apathy OMIM:606438
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor... ORPHA:1170
Phenylketonuria
Lower limb spasticity, Depression, Tremor, Cerebral visual impairment, Ataxia ORPHA:716
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Long eyelashes OMIM:618577
Medulloblastoma
Cerebellar cyst, Progressive cerebellar ataxia, Progressive visual loss, Cerebellar ataxia associ... ORPHA:616
Spastic Ataxia 1, Autosomal Dominant
Ptosis OMIM:108600
Craniosynostosis 6
Dandy-Walker malformation, Microcephaly, Ptosis, Low anterior hairline, Agenesis of corpus callos... OMIM:616602
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Short palpebral fissure, Polyhyd... OMIM:617360
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo... OMIM:302800
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Perisylvian polymicrogyria, Cerebellar hypopl... OMIM:616531
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F... ORPHA:2590
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Tremor, Lethargy ORPHA:276608
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Clinodactyly of the 5th finger, Tremor, Retinopathy, Dystonia, Ataxia, Cerebellar ... OMIM:619422
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Postural tremor, Oculomotor apraxia, Cerebellar a... OMIM:609270
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Visual loss, Cerebellar cortical atrop... ORPHA:247234
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Depression, Parkinsonism with favorable response to dopaminergic medication,... ORPHA:240085
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar... ORPHA:98773
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Autism, Susceptibility To, X-Linked 6
Ptosis OMIM:300872
Greig Cephalopolysyndactyly Syndrome
Telecanthus, Agenesis of corpus callosum ORPHA:380
Charcot-Marie-Tooth Disease Type 1A
Demyelinating peripheral neuropathy, Decreased sensory nerve conduction velocity, Acute demyelina... ORPHA:101081
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Ataxia OMIM:300983
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Depression, Truncal ataxia, Spasticity, Tremor, Cerebellar at... OMIM:137440
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination, Cerebral cortical atrophy, Hyperintensity of cerebral white matter on... ORPHA:48431
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Low posterior hairline, Microcephaly, Failure to thrive, Ptosis, Long palp... OMIM:243310
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Lethargy OMIM:613002
Reticular Dysgenesis
Failure to thrive, Dehydration, Weight loss ORPHA:33355
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly, Cerebellar hypoplasia OMIM:618731
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Cerebral atrophy, Hypoplasia of the corpus callosum, Polymicrogyria, Reduced cerebral white matte... OMIM:620156
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Large for gestational age, Bilateral ptosis, Polyhydramnios, Small na... ORPHA:544488
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cerebellar cyst, Retinal detachment, Optic nerve hypoplasia, Coloboma, Clonus, Dil... ORPHA:370959
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Babinski sign, Limb ataxia, Depression, Truncal ataxia, Dysesthesia, Cerebellar at... OMIM:619259
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Highly arched ... OMIM:615802
Joubert Syndrome 22
Retinal dysplasia, Oculomotor apraxia, 2-3 toe syndactyly, Coloboma, Postaxial hand polydactyly, ... OMIM:615665
Neuropathy, Congenital Hypomyelinating, 3
Hypoplasia of the corpus callosum, Polyhydramnios, Cachexia, Facial diplegia, Decreased motor ner... OMIM:618186
4Q21 Microdeletion Syndrome
Synophrys, Long eyelashes, Ptosis, Generalized hirsutism, Agenesis of corpus callosum, Cerebellar... ORPHA:238750
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation OMIM:610100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Retinal dystrophy, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Myopia,... OMIM:613155
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Hypoplasia of the corpus callosum, Decreased sensory nerve conduction velocity, Long eyelashes, M... OMIM:619026
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Dystrophic toenail, Decreased number of peripheral mye... OMIM:600882
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Mohr-Tranebjaerg Syndrome
Optic atrophy, Babinski sign, Color vision defect, Oromandibular dystonia, Visual loss, Generaliz... ORPHA:52368
Microhydranencephaly
Hydranencephaly, Athetosis, Microcephaly, Pachygyria, Agenesis of corpus callosum, Cerebellar hyp... OMIM:605013
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Hypoplastic fingernail, Highly arched eyebrow, Ptosis, Downsla... OMIM:618619
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:28
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplasia of the corpus callosum, Highly arched eyebrow, Microcephaly, Agenesis of corpus callos... OMIM:618142
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Emotional lability, Optic disc pallor ORPHA:98890
Frontonasal Dysplasia 1
Ptosis, Epicanthus, Agenesis of corpus callosum, Pericallosal lipoma, Widow's peak OMIM:136760
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Amyotrophic lateral sclerosis, Dystonia OMIM:300857
Spinocerebellar Ataxia Type 10
Babinski sign, Progressive cerebellar ataxia, Gait imbalance, Lower limb spasticity, Depression, ... ORPHA:98761
Aceruloplasminemia
Limb ataxia, Akinesia, Torticollis, Macular degeneration, Chorea, Tremor, Blepharospasm, Craniofa... ORPHA:48818
Jaberi-Elahi Syndrome
Optic atrophy, Inability to walk, Appendicular spasticity, Broad-based gait, Dandy-Walker malform... OMIM:617988
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the cerebellum ORPHA:1188
Ophthalmoplegia, External, And Myopia
Ptosis, Spina bifida OMIM:311000
Congenital Myopathy 10A, Severe Variant
Failure to thrive, Facial palsy, Abnormal motor nerve conduction velocity OMIM:614399
Intellectual Disability-Strabismus Syndrome
Hypoplasia of the corpus callosum, Polyhydramnios, Telecanthus, Highly arched eyebrow, Diffuse de... ORPHA:363528
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Ring Chromosome 1 Syndrome
Ptosis, Downslanted palpebral fissures, Telecanthus ORPHA:1437
Braddock-Carey Syndrome 1
Telecanthus, Curly hair, Microcephaly, Downslanted palpebral fissures, Agenesis of corpus callosu... OMIM:619980
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
CNS demyelination, Thin corpus callosum, Partial agenesis of the corpus callosum, Delayed CNS mye... OMIM:619653
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Polyhydramnios, Aganglionic megacolon, Telecanthus, Failure to thrive, A... ORPHA:3339
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypoplasia of the corpus callosum, Secondary microcephaly, Medial flaring of the eyebrow, Broad e... OMIM:620113
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Tremor, Spastic tetraparesis, Broad-based gait OMIM:619470
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Absent septum... ORPHA:2182
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Depression, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Impai... OMIM:300623
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polyhydramnios, Hydranencephaly, Pterygium, Dandy-Walker malformation, Polymicrogyria, Microcepha... OMIM:225790
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hydrocephalus, Cerebral calcification, Dandy-Walker malformation, Cer... OMIM:617281
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Bilateral ptosis, Optic nerve hypoplasia, Type II lissencephaly, Abnormal autonomic nervous syste... ORPHA:300570
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Optic atrophy, Hirsutism, Synophrys, Microcephaly, Low anterior hairline, Agenesis of corpus call... OMIM:300004
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Impai... OMIM:208920
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Hypermetropia, Incoordination, Tre... OMIM:618060
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation OMIM:618890
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity ORPHA:101075
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Ptosis, Thick eyebrow OMIM:606242
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Long eyelashes, Obesity, Downslanted palpebral fissures, Agenesis of corpus callosum, ... OMIM:620250
Brain Malformations With Or Without Urinary Tract Defects
Hypoplasia of the corpus callosum, Cognitive impairment, Failure to thrive, Agenesis of corpus ca... OMIM:613735
Leukoencephalopathy With Ataxia
Limb ataxia, Choroidal neovascularization, Chorioretinal atrophy, Retinoschisis, Optic neuropathy... OMIM:615651
Charcot-Marie-Tooth Disease Type 4A
Demyelinating peripheral neuropathy, Motor conduction block, Decreased nerve conduction velocity,... ORPHA:99948
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Polyhydramnios, Abnormal basal ganglia morphology, Neuronal loss in the cerebral cortex, Cerebral... ORPHA:86822
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Pontocerebellar atrophy, Upper limb undergrowth, Tremor, Cerebral visual impairmen... OMIM:608799
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Hypoplasia of the corpus callosum, Microcephaly, Ptosis, Agenesis of corpus callos... OMIM:616239
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Spinocerebellar Ataxia, Autosomal Recessive 32
Ptosis, Abnormal nerve conduction velocity OMIM:619862
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ptosis OMIM:258470
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dysgenesis of the cerebellar vermis, Cerebellar vermis hypopla... OMIM:617751
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, From... OMIM:162500
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Hypoplasia of the corpus callosum, Short palpebral fissure, Telecanthus, Microcephaly, Downslante... OMIM:617260
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Basal lam... OMIM:214400
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Sparse scalp hair, Sparse eyebrow, Downs... ORPHA:459061
Glutathionuria
Agenesis of corpus callosum OMIM:231950
Huntington Disease-Like 1
Abnormal posturing, Abnormal basal ganglia morphology, Cerebellar atrophy, Cerebral cortical atro... ORPHA:157941
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Oligohydramnios, Small for gestational age OMIM:620135
Spinocerebellar Ataxia Type 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Depression, Resting tremor, ... ORPHA:458803
Developmental And Epileptic Encephalopathy 41
Babinski sign, Inability to walk, Spasticity, Tetraparesis, Lethargy OMIM:617105
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
Fibrosis Of Extraocular Muscles, Congenital, 1
Bilateral ptosis, Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular muscle... OMIM:135700
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral white matter hypoplasia... ORPHA:284417
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
X-Linked Adrenoleukodystrophy