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Gene: Eml1 MGI:1915769

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Gene Summary

Name:
echinoderm microtubule associated protein like 1
Synonyms:
1110008N23Rik,  ELP79,  A930030P13Rik,  heco

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin Eml1em1(IMPC)Wtsi HOM Early adult 6.65×10-08
decreased fasting circulating glucose level Eml1em1(IMPC)Wtsi HOM Early adult 1.12×10-07
absent pinna reflex Eml1em1(IMPC)Wtsi HOM Early adult 5.10×10-05
decreased erythrocyte cell number Eml1em1(IMPC)Wtsi HOM Early adult 3.07×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Legacy Phenotype Associated Images
Eml1em1(IMPC)Wtsi
foot, abnormal digit morphology, foot digit 1 phalanx, foot phalanx, foot digit 1, HOM, Male, WTSI
Eml1em1(IMPC)Wtsi
foot digit 5 phalanx, foot, foot digit 5, foot phalanx, abnormal digit morphology, HOM, Male, WTSI

Human diseases caused by Eml1 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 Eml1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348

The table below shows human diseases predicted to be associated to Eml1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Scaphocephaly, Maxillary Retrusion, And Impaired Intellectual Development
Dolichocephaly OMIM:609579
Non-Syndromic Sagittal Craniosynostosis
Prominent occiput, Frontal bossing, Dolichocephaly ORPHA:35093
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Bilateral tonic-clonic seizure, ... OMIM:615362
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h... OMIM:604213
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ventriculomegaly, Ataxia, Rigidity, Chorea, Gait ataxia, Br... ORPHA:248111
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Increased neuronal autofluorescent lipopigment, Bilateral tonic-clonic seizure, Parkinson... OMIM:162350
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Increased neuronal autofluorescent lipopigment, Bilateral tonic-clonic seizure, Focal-ons... OMIM:204300
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... OMIM:614019
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Frontal lobe dement... OMIM:221820
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre... OMIM:300423
Spinocerebellar Ataxia 17
Diffuse cerebral atrophy, Chorea, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Confusion, Pa... OMIM:607136
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Ventric... ORPHA:171703
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Lissencephaly 3
Cerebellar vermis hypoplasia, Periventricular laminar heterotopia, Microcephaly, Polymicrogyria, ... OMIM:611603
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy... ORPHA:101029
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... ORPHA:98762
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Dementia, Abnormality of extrapyram... ORPHA:79262
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... OMIM:610031
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... ORPHA:454887
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-... ORPHA:36387
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus,... OMIM:616187
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Atrophy... OMIM:616230
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... OMIM:600143
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... OMIM:608716
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Seizure, Bradykinesia, Shuf... OMIM:615528
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Dementia, Neuronal loss... OMIM:143100
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Seizure, Dementia, Myoclonus, Generalized myoclonic seizure OMIM:208700
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... ORPHA:363654
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... OMIM:616540
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... ORPHA:306692
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Brain at... ORPHA:306669
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Seizure, ... OMIM:618824
Dystonia 16
Limb dystonia, Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnorm... OMIM:612067
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly OMIM:619501
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly OMIM:615938
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Short attention span, Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotempora... ORPHA:412066
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dementia, Myoclonus, Dystonia OMIM:125370
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Dystonia 23
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... OMIM:614860
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Broad-based gait, Lower limb spasticity, Ataxia, Inability to... OMIM:617854
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Cognitive impairment, Dystonia, Memory... ORPHA:401901
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tetraparesis, Dyst... OMIM:615924
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Confusion, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathe... OMIM:606777
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure... ORPHA:71517
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus... OMIM:617542
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... ORPHA:521406
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria OMIM:300067
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent l... OMIM:204500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom... OMIM:615937
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the b... OMIM:615771
Huntington Disease
Caudate atrophy, Clonus, Chorea, Decreased body mass index, Clumsiness, Seizure, Gait disturbance... ORPHA:399
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Infantile Neuronal Ceroid Lipofuscinosis
Generalized-onset seizure, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysmet... ORPHA:79263
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Lethargy, S... OMIM:617065
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt... ORPHA:240103
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Weight loss, Bradykinesia, Dementia, Dystonia, Memory imp... OMIM:606438
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor OMIM:618876
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... ORPHA:300573
Megalencephaly, Autosomal Dominant
Hydrocephalus, Megalencephaly OMIM:155350
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with genera... ORPHA:2590
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pattern, Hypoplasia of t... OMIM:619302
Developmental And Epileptic Encephalopathy 69
Corpus callosum atrophy, Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Status e... OMIM:618285
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Oromandibular dystonia, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait... OMIM:615643
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,... OMIM:617090
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle... ORPHA:100984
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Confusion, Gait ataxia, Hemiparesis, Dementia, Myoclonus, Memor... OMIM:123400
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizu... OMIM:301020
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Sei... ORPHA:329284
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Gait disturb... OMIM:618418
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Epilepsy, Progressive Myoclonic, 6
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:614018
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Degeneration of the striatum, Gait di... OMIM:609161
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy... ORPHA:2703
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lip... OMIM:204200
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po... ORPHA:250972
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... OMIM:619911
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Macrocephaly, Acquired, With Impaired Intellectual Development
Probst bundles, Agenesis of corpus callosum, Thin corpus callosum, Ventriculomegaly OMIM:618286
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Microcephaly, Hydrocephalus, Cortical dysplasia, Abnormality of neuronal migration, Ventriculomeg... OMIM:618709
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Confusion, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia... ORPHA:71277
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... ORPHA:282166
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo... OMIM:617836
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly OMIM:303350
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity OMIM:617829
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Increas... ORPHA:255182
Mitochondrial Complex I Deficiency, Nuclear Type 31
Progressive neurologic deterioration, Dysmetria, Seizure, Myoclonus, Failure to thrive, Ventricul... OMIM:618251
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Progressive psych... ORPHA:263516
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Dementia, Gait disturbance, Parkinsonism with favorable r... OMIM:616710
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Ptosis, Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykine... ORPHA:70594
Congenital Disorder Of Glycosylation, Type Iiy
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr... OMIM:620200
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Chorea, Cogwheel rigidity, ... OMIM:619725
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Difficulty walking, Attention defic... OMIM:619191
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Cerebral ... ORPHA:85179
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Progressive neurologic deterioration, Small for gestational age, Tremor, Ri... OMIM:261640
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of... OMIM:618492
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401830
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Cerebrooculofacioskeletal Syndrome 3
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly, Microcephaly OMIM:616570
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Agenesis of corpus callosum OMIM:300073
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bilateral tonic-clonic seizure, Foc... ORPHA:228346
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:401820
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel... ORPHA:1528
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Sei... ORPHA:13
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure OMIM:612437
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Attention d... OMIM:619971
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairment, Parkins... ORPHA:240085
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus, Frontal cortical atrophy, Slend... OMIM:300699
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Dysmetri... OMIM:603516
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Epileptic spasm, Oculogyric crisis, Inability to walk, Chorea, Cerebral atrop... OMIM:614254
Spinocerebellar Ataxia 2
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Ataxia, Parkinsonism,... OMIM:183090
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Dystonia, Abnormal pyramidal sign, Hemiparesis, Status epilepticus, Myo... ORPHA:352596
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Ga... OMIM:605259
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo... OMIM:304100
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Dementia, Myoclo... OMIM:254800
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Cognitive impairment, Spastic parapa... OMIM:615157
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Short attention span, Lower limb spasticity, Ataxia, Bilateral tonic-clonic s... OMIM:619028
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive... OMIM:609056
Congenital Disorder Of Glycosylation, Type In
Ataxia, Cerebral atrophy, Seizure, Myoclonus, Spasticity, Failure to thrive OMIM:612015
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Epilepsia partialis continua, Ptosis, Ataxia, Tremor, Abnormal pyramidal sign... OMIM:612016
Spinocerebellar Ataxia 50
Cerebellar atrophy, Ptosis, Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Mem... OMIM:620158
Hsd10 Disease
Short attention span, Ataxia, Tremor, Rigidity, Choreoathetosis, Frontotemporal cerebral atrophy,... ORPHA:391417
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclo... ORPHA:2382
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cerebral atrop... OMIM:618497
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking OMIM:613608
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Parkinsonism, Oculogyric crisis, Bradykinesia, Hypertonia, Attention deficit hy... OMIM:617384
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microceph... ORPHA:171680
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... OMIM:616421
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Frontal lobe dementia, Seizure, Lateral ventric... OMIM:221770
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor ... OMIM:614487
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ptosis, Ataxia, Cerebral atrophy, Cogwheel rigidity, Bradykinesia, Distal sen... ORPHA:254886
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Dystonia OMIM:605909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Retinal dysplasia OMIM:615041
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Cognitive impairment, Difficulty walking, Brain atrophy, Cerebellar ... ORPHA:363432
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Babinski sign, Seizure, Dementia, Gait disturbance, Myoclonus, Apraxia, Memory i... OMIM:618193
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity OMIM:545000
Dystonia 28, Childhood-Onset
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Cognitive impairment, R... OMIM:617284
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Dystonia, Postural tremor, Chorea, Slurred speech, Impaired proprioception, D... ORPHA:98755
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Dystonia, Ataxia, Par... OMIM:109150
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... OMIM:137440
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Cerebral atrophy, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extr... OMIM:615338
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Non-Specific Early-Onset Epileptic Encephalopathy
Ptosis, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady ga... ORPHA:442835
Autosomal Recessive Primary Microcephaly
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... ORPHA:2512
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Tremor, Degeneration of anterior horn cells, Dementia, Myoclonus, Diff... OMIM:159950
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Gait disturbance, Bradykinesia ORPHA:228169
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dy... OMIM:261630
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Postural tremor, Involuntary movements, Kinetic tremor, Myoclonus, Atonic seizure OMIM:611092
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Epicanthus, Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia, Let... OMIM:250620
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Ventriculomegaly, Agenesis of cerebellar vermis, Hypoplasia of the pon... OMIM:613153
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Myoclonus, Dystoni... OMIM:312170
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... OMIM:607346
Ceroid Lipofuscinosis, Neuronal, 1
Psychomotor deterioration, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrop... OMIM:256730
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus ORPHA:36899
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal... ORPHA:500166
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... ORPHA:53351
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait OMIM:619052
Microcephaly 16, Primary, Autosomal Recessive
Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly OMIM:616681
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, Cerebellar hypopla... OMIM:619301
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... ORPHA:99750
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterior... OMIM:617013
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl... OMIM:619065
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Cerebral atrophy, G... OMIM:618877
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizur... ORPHA:561854
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Parkinsonism, Tremor, Abn... ORPHA:240071
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Neuroferritinopathy
Resting tremor, Caudate atrophy, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, C... ORPHA:157846
Parkinson Disease 14, Autosomal Recessive
Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Clumsiness, Global brain a... OMIM:612953
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non... OMIM:607682
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... OMIM:500003
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... OMIM:300623
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Optic atrophy, Dandy-Walker malformation ORPHA:1538
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Cognitive impairment, S... ORPHA:306511
Developmental And Epileptic Encephalopathy 88
Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal... OMIM:618959
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Dementia, Abnormalit... ORPHA:204
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Dementia, Dystonia, Spasticity, Upper motor neuron dysfunction OMIM:500001
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Absent septum pellucidum, Frontal encephalocele, Lissencephaly, Cerebella... OMIM:218670
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Seizure, Hypertonia, Myoclonus, Failure to thrive OMIM:610090
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Babinski sign, Seizure, Dementia, Gait disturbance, Myoclonus, Ab... OMIM:607822
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Seizure... ORPHA:363717
Parkinsonism With Polyneuropathy
Resting tremor, Diffuse cerebral atrophy, Rigidity, Bradykinesia, Parkinsonism with favorable res... OMIM:619279
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Dementia, Shuff... OMIM:311510
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Brain atrophy, Lethargy, Spasticity, Ptosis OMIM:618225
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Mental deterioration, Bradykinesia, Dementia, Gait distur... OMIM:168601
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Chorea, Ataxia OMIM:618683
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, ... ORPHA:225154
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Memory impairment, Bradykinesia ORPHA:306686
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Progressive psychomotor ... ORPHA:363400
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Porencephalic cyst, Subcort... OMIM:615191
Developmental And Epileptic Encephalopathy 23
Double eyebrow, Telecanthus, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Syn... OMIM:615859
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Athetosis, Seizure, Gait disturbance, Myoclonus,... OMIM:618241
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Microcephaly OMIM:619025
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations, Neu... OMIM:611721
Caribbean Parkinsonism
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Frontal lobe de... ORPHA:97355
Developmental And Epileptic Encephalopathy 1
Ventriculomegaly, Dystonia, Infantile spasms, Tonic seizure, Spastic tetraparesis, Focal-onset se... OMIM:308350
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly OMIM:619466
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoc... ORPHA:139485
Continuous Spikes And Waves During Sleep
Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset s... ORPHA:725
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Developmental And Epileptic Encephalopathy 32
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... OMIM:616366
Alg13-Cdg
Abnormal lateral ventricle morphology, Global brain atrophy ORPHA:324422
Benign Familial Infantile Epilepsy
Psychomotor deterioration, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:306
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... ORPHA:2182
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
3Q13 Microdeletion Syndrome
Agenesis of corpus callosum ORPHA:1621
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Upslanted palpe... OMIM:617290
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Frontotemporal dementia, Babinski sign, Gait disturbance, Myoclonus, Dystonia, Memory i... OMIM:600795
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Seizure, Dementia, Abnormality of extrapyramidal mot... OMIM:604218
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum OMIM:619548
Sporadic Infantile Bilateral Striatal Necrosis
Short attention span, Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, A... ORPHA:225147
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Periventricular heterotopia, Periventricular cysts, Hypoplasia of the brainstem... ORPHA:255138
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Abnormal cerebral white matter morphology, Dysgyria, Gray... ORPHA:352682
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy ORPHA:166024
Narp Syndrome
Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Dementia, Corticospinal tract atrophy, M... ORPHA:644
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si... ORPHA:300570
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dystonia, Dysmetria, Gait ataxia, Hemiparesis, Seizure, Bradykinesia, Arm... OMIM:601338
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Cerebral calcification ORPHA:99966
Episodic Ataxia, Type 5
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Infantile spasms, Inability to walk, Synophrys, Low anterior hairline, Generalized n... ORPHA:411986
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr... OMIM:220200
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... OMIM:619606
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Dementia, Falls, Cognitive impairme... ORPHA:683
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Periventricular leukomalacia, Agenesis of corpus callosum OMIM:618324
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Al... OMIM:620352
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Oculomotor apraxia, Dysmetr... ORPHA:313772
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Retinal dysplasia, Ventriculomegaly OMIM:614830
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Alexander Disease
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor OMIM:203450
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Unsteady gait, G... ORPHA:485350
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus... OMIM:616171
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Lissencephaly 6 With Microcephaly
Microcephaly, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gy... OMIM:616212
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Poor motor coordination, Photosens... ORPHA:86909
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Cerebral atrophy, Microcephaly OMIM:274270
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia ORPHA:101071
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Camos Syndrome
Ataxia, Spasticity, Seizure, Brain atrophy, Progressive extrapyramidal movement disorder ORPHA:83472
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Cerebellar hypoplasia OMIM:613163
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Progressive neurologic deterioration, Tremor, Dy... ORPHA:254881
Peho-Like Syndrome
Cerebellar atrophy, Epicanthus, Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Ve... OMIM:617507
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Increased cerebral lipof... OMIM:610539
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Weight loss, Bradykinesia, Dys... OMIM:168605
Restless Legs Syndrome, Susceptibility To, 1
Paresthesia, Myoclonus OMIM:102300
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shu... ORPHA:289560
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Hemimegalencephaly
Epileptic spasm, Ventriculomegaly, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure... ORPHA:99802
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, T... ORPHA:98768
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:123155
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Bilateral ptosis, B... ORPHA:97349
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F... ORPHA:208447
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Parietal cortical atrophy, Frontal cortical atrophy, Agenesis of corpus callosum, Microcephaly OMIM:618766
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Lateral ventricle d... OMIM:619517
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Alpers-Huttenlocher Syndrome
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Paraparesis, Choreoathetosis, Myoclo... ORPHA:726
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Gait ataxia, Dementia, Abnormality of extrapyramidal motor function, Paresthesia, Co... ORPHA:356
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... OMIM:618736
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile sp... OMIM:617493
Holoprosencephaly 11
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly OMIM:614226
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Short attention span, Chorea, Babinski sign, Dysmetria, Gait ataxia, Cerebral... OMIM:610217
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Glycine Encephalopathy 1
Seizure, Agenesis of corpus callosum, Myoclonus, Lethargy OMIM:605899
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder OMIM:618878
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... ORPHA:199351
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Hypoplasia of the brainstem, Lateral ventricle dilatation, Cerebellar hypoplasi... OMIM:618266
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign, Bradykinesia, H... ORPHA:238455
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Increa... ORPHA:79243
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
Manganese Poisoning
Postural tremor, Confusion, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturban... ORPHA:306682
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... OMIM:620156
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Abnormality of retinal pigmentation, Agenesis of corpus callosum ORPHA:1496
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria,... OMIM:600118
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Corpus... ORPHA:168491
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Ptosis, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunctio... ORPHA:466722
Lissencephaly 7 With Cerebellar Hypoplasia
Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of corpus callosum, ... OMIM:616342
Parkinsonian-Pyramidal Syndrome
Dystonia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Dementia,... ORPHA:171695
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Blepharospasm, Dyssynergia, Impaired proprioception, Oromandibular... ORPHA:101
Childhood-Onset Spasticity With Hyperglycinemia
Short attention span, Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Babinski... ORPHA:401866
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Cerebral cor... OMIM:615530
Myoclonus, Intractable, Neonatal
Clonic seizure, Chorea, Athetosis, Myoclonus, Dandy-Walker malformation, Ptosis OMIM:617235
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bradykinesia, Seizure, Slowed slurred ... OMIM:619827
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Spinocerebellar Ataxia 21
Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Postural tremor, Limb ataxia, Gait ataxia, Co... OMIM:607454
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadocho... ORPHA:251347
Leukoencephalopathy With Vanishing White Matter 5
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... OMIM:620315
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Subependymal Nodular Heterotopia
Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ... ORPHA:101030
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Ptosis, Dystonia, Parkinsonism, Impaired distal proprioception, Rigidity, Bil... OMIM:258450
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Coloboma, Retinal dysplasia, Ventriculomegaly ORPHA:324416
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Parkinsonism, Seizure, Dementia, Hypertonia, Semantic dementia, Myoclonus, Apr... ORPHA:1020
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum ORPHA:401815
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:164180
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Babinski sign, Seizure, Myoclonus, Cognitive impairment, Truncal ataxia, Spasti... OMIM:252011
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618577
Microcephaly 10, Primary, Autosomal Recessive
Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi... OMIM:615095
Mepan Syndrome
Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Cerebral atrophy, Gai... ORPHA:508093
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Mild fetal ventriculomegaly, Agenesis of corpus callosum OMIM:610498
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, Shuffling gait, Gait im... ORPHA:75567
Congenital Neuronal Ceroid Lipofuscinosis
Ventriculomegaly, Microcephaly, Neuronal loss in the cerebral cortex, Cerebellar hypoplasia, Pach... ORPHA:168486
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Lateral ventricle dilatat... OMIM:613154
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus, Dystonia ORPHA:139406
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Periventricular white matter hyperintensities, Hydrocephalus, Simplified gyral pattern, Microcephaly OMIM:619470
Microhydranencephaly
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... OMIM:605013
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Gaucher Disease, Type Iii
Ataxia, Progressive neurologic deterioration, Dementia, Myoclonus, Spastic paraparesis, Generaliz... OMIM:231000
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:2508
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Agenesis of corpus callosum, Increased CSF lactate OMIM:618238
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia... OMIM:225790
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... ORPHA:397946
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly OMIM:615286
Hereditary Geniospasm
Chin myoclonus, Intention tremor ORPHA:53372
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Seizure, G... ORPHA:309162
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Microcephaly, Abnormal globus pallidus morphology, Hypoplasia of the corpus callosum, Agenesis of... OMIM:618603
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Ataxia, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, My... OMIM:618356
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Broad-based gait, Ataxia, Seizure, Dementia, Brain atrophy, Ventriculomegaly OMIM:206570
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Cerebellar hypoplasia, Hypoplasia of the corpus callosum ORPHA:488635
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni... ORPHA:352582
Riboflavin Transporter Deficiency
Ataxia, Cachexia, Tremor, Seizure, Myoclonus, Cerebral cortical atrophy, Ptosis ORPHA:97229
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Dementia, Shuffling ... ORPHA:411602
Coach Syndrome 2
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Spinocerebellar Ataxia Type 36
Ptosis, Ataxia, Babinski sign, Limb ataxia, Dysmetria, Hand tremor, Tongue fasciculations, Diffic... ORPHA:276198
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Pigmentary retinopathy, Lateral ventricle dilatation, Retinal d... OMIM:608629
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... OMIM:617668
Kufor-Rakeb Syndrome
Eyelid apraxia, Short attention span, Confusion, Parkinsonism, Oculogyric crisis, Rigidity, Babin... ORPHA:306674
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Agen... OMIM:207950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Hydrocephalus, Progressive microcephaly, Hypoplasia of the brainstem, Lissencephaly... OMIM:615249
Baraitser-Winter Syndrome 2
Secondary microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:614583
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive imp... OMIM:607876
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Atypical Rett Syndrome
Dystonia, Generalized myoclonic seizure, Involuntary movements, Infantile spasms, Impaired pain s... ORPHA:3095
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Reduced cerebral white matter volume, Hydrocephalus, Hypoplasia of the brainstem, Secondary micro... OMIM:618174
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Childhood-Onset Nemaline Myopathy
Waddling gait, Clumsiness, Poor fine motor coordination, Bradykinesia, Difficulty walking, Slende... ORPHA:171439
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Cerebral a... OMIM:619847
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity, Failure to thriv... OMIM:618201
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Epicanthus, Bilateral tonic-clonic seizure with generalized onset, Infantile ... OMIM:615851
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Alobar holoprosencephaly OMIM:615433
Posttransplant Acute Limbic Encephalitis
Ataxia, Confusion, Seizure, Myoclonus, Cognitive impairment, Dystonia, Memory impairment ORPHA:163921
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, G... ORPHA:98760
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Dystonia, Neuronal loss i... OMIM:168600
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Micr... ORPHA:370959
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Diffuse cerebral atrophy, Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational ... ORPHA:289266
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Seizure, Myoclonus, Dystonia, Spasticity OMIM:620094
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Cerebr... ORPHA:79264
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Gray matter h... OMIM:615219
Adult-Onset Cervical Dystonia, Dyt23 Type
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... ORPHA:420492
Benign Familial Neonatal Epilepsy
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... ORPHA:1949
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... OMIM:617282
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Pontocerebellar Hypoplasia, Type 7
Epicanthus, Ventriculomegaly, Ataxia, Hydrocephalus, Spastic paraplegia, Synophrys, Cerebral atro... OMIM:614969
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia,... OMIM:619724
Abeta Amyloidosis, Iowa Type
Memory impairment, Dementia, Gait disturbance, Myoclonus ORPHA:324708
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ... OMIM:614833
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... OMIM:601104
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Retinopathy ORPHA:26
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... OMIM:604804
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Thyrocerebrorenal Syndrome
Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia ORPHA:3327
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Imagawa-Matsumoto Syndrome
Polymicrogyria, Agenesis of corpus callosum OMIM:618786
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Craniosynostosis 6
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... OMIM:616602
Leukoencephalopathy, Progressive, With Ovarian Failure
Progressive leukoencephalopathy, Lateral ventricle dilatation, Periventricular leukomalacia, Leuk... OMIM:615889
Cog8-Cdg
Cerebellar atrophy, Ataxia, Seizure, Myoclonus, Atrophy/Degeneration affecting the brainstem, Fai... ORPHA:95428
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Den Hoed-De Boer-Voisin Syndrome
Tremor, Ataxia, Overweight, Obesity, Nocturnal seizures, Seizure, Upper limb spasticity, Myoclonu... OMIM:619229
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Extra-axial cerebrospinal fluid a... OMIM:617669
Craniosynostosis 3
Partial agenesis of the corpus callosum OMIM:615314
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:218350
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissence... ORPHA:89844
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... OMIM:234200
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Cerebral atrophy, Opisthotonus, Statu... OMIM:616672
Lafora Disease
Ataxia, Confusion, Focal sensory seizure with visual features, Seizure, Gait disturbance, Myoclon... ORPHA:501
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Myoclonus OMIM:619303
Frontal Encephalocele
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... ORPHA:1931
Pyridoxal Phosphate-Responsive Seizures
Unsteady gait, Seizure, Hypertonia, Status epilepticus, Myoclonus, Failure to thrive, Global brai... ORPHA:79096
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Huntington Disease-Like 3
Psychomotor deterioration, Caudate atrophy, Broad-based gait, Extrapyramidal muscular rigidity, D... ORPHA:157946
Lissencephaly, X-Linked, 2
Ventriculomegaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300215
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Subependymal cysts, Partial agenesis of the corpus callosum, Microcephaly OMIM:245349
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:619420
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Ventriculomegaly, Bilateral tonic-clonic seizure, Facial-lingual fa... OMIM:617281
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni... OMIM:616840
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... ORPHA:79326
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... OMIM:609454
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Hypoplasia of the pons, Degeneration of anterior ho... OMIM:607596
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of co... OMIM:620316
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus,... OMIM:619913
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Cerebral atrophy, Microcephaly OMIM:300884
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... ORPHA:247234
Adams-Oliver Syndrome 2
Hydrocephalus, Optic atrophy, Lateral ventricle dilatation OMIM:614219
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... OMIM:618060
Hogue-Janssen Syndrome 2
Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Vent... OMIM:616362
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... OMIM:619244
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Tortuosity of conjunctiva... OMIM:613728
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Lower limb spasticity, Ataxia, Confusion, Spastic tetraparesis, Inability t... ORPHA:139396
2,4-Dienoyl-Coa Reductase Deficiency
Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lactate, Colpocephaly, Increased CSF... OMIM:616034
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Small for gestational age, Myoclonus, Cerebral atrophy OMIM:619057
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Hypoplasia of the corpus callosum, Abnormal per... OMIM:604360
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Typical abse... ORPHA:845
Grubben-De Cock-Borghgraef Syndrome
Partial agenesis of the corpus callosum ORPHA:2101
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... OMIM:617967
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Hyperekplexia 4
Seizure, Hypertonia, Myoclonus, Cerebral atrophy OMIM:618011
Malan Overgrowth Syndrome
Optic disc pallor, Lateral ventricle dilatation, Optic disc hypoplasia, Ventriculomegaly ORPHA:420179
6Q25 Microdeletion Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly ORPHA:251056
Pontocerebellar Hypoplasia Type 4
Seizure, Hypertonia, Myoclonus ORPHA:166063
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu... OMIM:618325
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Hypoplasia of the optic tract, I... ORPHA:500144
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... ORPHA:98808
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Seizure, Gait disturba... ORPHA:412217
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus c... OMIM:615599
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Mental ... OMIM:619780
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Fried Syndrome
Hydrocephalus, Cerebral calcification ORPHA:85335
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Bradykinesia, Seizure, Dystonia,... OMIM:614924
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Acalvaria
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... ORPHA:945
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Adult-Onset Nemaline Myopathy
Bradykinesia, Poor fine motor coordination, Difficulty walking ORPHA:171442
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Dandy-Walker malformation, Agyria, Subcortical heterotopia, Ventriculomegaly, Opti... OMIM:614643
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling, Lateral ventricle dilatation OMIM:614105
Thyrocerebroretinal Syndrome
Seizure, Slurred speech, Ataxia, Myoclonus OMIM:274240
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Broad-based gait, Telecanthus, Inability to walk, Seizure, Myoclonus, Long palpebral fissure OMIM:616158
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic mo... OMIM:233910
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairm... OMIM:616505
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizu... OMIM:271980
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysesthesia, Dysmetria, Gait ataxia, Bradykinesia, Dementia, Gait... ORPHA:93256
Baker-Gordon Syndrome
Epicanthus, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movem... OMIM:618218
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Epileptic spasm, Cerebral atrophy, Myoclonus, Decreased body weight, Failure ... OMIM:619060
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum ORPHA:572013
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, Seizure, Gait disturbance, Difficulty walking, Dys... ORPHA:778
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Optic atrophy, Dandy-Walker malformation ORPHA:3078
Young-Onset Parkinson Disease
Short attention span, Tremor, Rigidity, Frontal lobe dementia, Bradykinesia, Dementia, Gait imbal... ORPHA:2828
Cach Syndrome
Optic neuritis, Lateral ventricle dilatation, Optic atrophy ORPHA:135
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Seizure, Atrophy/Degen... ORPHA:70595
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Cognitive... OMIM:146500
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Cerebral atrophy, Seizure, Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy, Failur... OMIM:236270
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Pontocerebellar Hypoplasia, Type 4
Seizure, Spasticity, Hypertonia, Myoclonus OMIM:225753
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Failure to thrive in infancy, Spastic tetraparesis, Seizure, Lateral ventricle d... ORPHA:284417
Phosphoserine Aminotransferase Deficiency
Seizure, Hypertonia, Myoclonus OMIM:610992
Pontocerebellar Hypoplasia, Type 11
Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... OMIM:617695
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pri... OMIM:607196
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Cerebellar vermis hypoplasia, Agenesis of corpus callosum ORPHA:453521
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callo... ORPHA:99742
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly ORPHA:452
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Central Precocious Puberty In Male
Hydrocephalus, Hypothalamic hamartoma ORPHA:649929
Linear Skin Defects With Multiple Congenital Anomalies 2
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:300887
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Agenesis of corpus callosum, Microcephaly OMIM:619989
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Lateral ventricle dilatation, Microcephaly, Diffuse cerebral atrophy ORPHA:77299
Sporadic Fetal Brain Disruption Sequence
Prominent occiput, Plagiocephaly ORPHA:1665
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Secondary microcephaly, Hypoplasia of the corpus callosum, Cerebral atrophy ORPHA:397951
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo... OMIM:607060
Hereditary Hyperekplexia
Ataxia, Rigidity, Seizure, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Walker-Warburg Syndrome
Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephal... ORPHA:899
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Seizure, Dementia, My... OMIM:616640
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Kleeblattschaedel
Hydrocephalus OMIM:148800
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramida... OMIM:618249
Septooptic Dysplasia
Optic nerve hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum OMIM:182230
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Ptosis, Generalized-onset seizure, Slurred speech, Limb ataxia, Dysmetria, An... ORPHA:284289
Choreoacanthocytosis
Caudate atrophy, Chorea, Oromandibular dystonia, Hypertonia, Limb dystonia, Loss of ambulation, L... ORPHA:2388
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... OMIM:613443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebella... OMIM:613155
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Polymicrogyria, Megalencephaly ORPHA:83473
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum OMIM:614815
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... OMIM:617914
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno... ORPHA:86822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Hypoplasia of... OMIM:615181
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Periventricular leukomalacia, Microcephaly OMIM:618302
Gómez-López-Hernández Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia ORPHA:1532
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, V... OMIM:619074
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Optic atrophy, Dandy-Walker malformation, Ventriculomegaly OMIM:304340
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Maternal Uniparental Disomy Of Chromosome X
Agenesis of corpus callosum, Microcephaly ORPHA:261519
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Frontal encephalocele, Agenesis of corpus callosum ORPHA:521308
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Early-Onset Lafora Body Disease
Ataxia, Confusion, Spastic tetraparesis, Seizure, Myoclonus, Mental deterioration ORPHA:324290
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, Infantile spasms, Spastic tetraparesis, Abnormal hair whorl, Cerebral ... OMIM:614261
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Cerebellar hypoplasia, Microcephaly OMIM:618731
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618619
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ventriculomegaly, Ataxia, Bilateral tonic-clonic seizure, Generalized myoc... ORPHA:395
Fatal Familial Insomnia
Ataxia, Weight loss, Dementia, Myoclonus, Neuronal loss in central nervous system OMIM:600072
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter heterotopia, H... OMIM:619775
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Gait ataxia, Cog... ORPHA:254892
Frontonasal Dysplasia 1
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Anterior basal enceph... OMIM:136760
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ... OMIM:616819
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Hypoplasia of the brains... OMIM:253800
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Cerebral atrophy, Ga... OMIM:618321
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Primary microcephaly ORPHA:466688
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Cerebral calcification, Periventricular heterotopia, Hydrocephalus, Cerebellar ... OMIM:618476
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Babinski sign, Prominent eyelashes, Cerebral atrophy, Upslanted palpebral fiss... OMIM:616420
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Generalized-onset seizure, Loss of ability to walk in early childhood, Small for gestational age,... OMIM:612073
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Undetectable visual evoked potentials, Chorioretinal coloboma, D... ORPHA:163961
Aicardi-Goutieres Syndrome 4
Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleiocytosis, Progressiv... OMIM:610333
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Polymicrogyria, Ventriculomegaly OMIM:602501
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly OMIM:618142
Developmental And Epileptic Encephalopathy 72
Inability to walk, Hyperkinetic movements, Infantile spasms, Cerebral atrophy OMIM:618374
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin... OMIM:614498
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Increased CSF protein concentration, Diffuse white matter abnormalities, Agenesis of corpus callo... OMIM:218000
Diencephalic Syndrome
Hydrocephalus, Optic atrophy ORPHA:1672
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Impaired distal proprioception, Dysmetria, Gait ataxia, Progressive gait ataxia, Atrophy/Degenera... OMIM:607459
Adenylosuccinase Deficiency
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Gait ataxia, Opisthotonus, Seizure, Myoc... OMIM:103050
Holoprosencephaly 14
Ventriculomegaly, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microc... OMIM:619895
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Neurodevelopmental Disorder With Spasticity And Poor Growth
Epicanthus, Generalized dystonia, Ataxia, Clonus, Infantile spasms, Synophrys, Babinski sign, Nai... OMIM:618076
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibration... OMIM:157640
4Q21 Microdeletion Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly ORPHA:238750
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Fg Syndrome 3
Agenesis of corpus callosum OMIM:300406
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly ORPHA:238769
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Partial agenesis of the corpus callosum, Microcephaly OMIM:618346
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Lateral ... OMIM:617296
Krabbe Disease
Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Hydrocephalus, Opti... OMIM:245200
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Retinal degeneration, L... ORPHA:2822
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor, Cervical spinal... ORPHA:363722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Ventriculomegaly, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermi... OMIM:613150
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Seizure, Truncal obesity, Hyperkine... OMIM:300957
Aromatic L-Amino Acid Decarboxylase Deficiency
Ptosis, Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor,... OMIM:608643
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Optic atrophy, Retinal dysplasia, Ventriculomegaly ORPHA:272
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Opisthotonus, Choreoathetosis, Sei... ORPHA:445038
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Agenesis of corpus callosum ORPHA:93267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Cerebellar hypoplasia, Agene... OMIM:214150
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Thin corpus callosum, Cerebral atrophy OMIM:616521
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly ORPHA:990
Hydrolethalus
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2189
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor fun... ORPHA:79279
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Extra-axi... OMIM:618291
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Generalized myoclonic seizure, Dysmetria, Seizure, Myoclonus, Gene... ORPHA:93399
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agenesis of corpus ca... ORPHA:220497
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Broad-based gait, Hypopigmentation of hair, Ataxia, Tremor, Obesity, Seizur... ORPHA:98794
Developmental And Epileptic Encephalopathy 100
Ventriculomegaly, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset se... OMIM:619777
Temtamy Syndrome
Agenesis of corpus callosum, Thick corpus callosum, Ventriculomegaly OMIM:218340
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Epileptic spasm, Telecanthus, Bilateral tonic-clonic seizure with generalized ons... ORPHA:314655
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Cortical dysplasia, Porencephalic cyst, Cerebellar hypoplasia, Hypoplasia of the c... OMIM:613001
Infantile Krabbe Disease
Psychomotor deterioration, Lower limb spasticity, Diffuse cerebral atrophy, Generalized myoclonic... ORPHA:206436
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, Optic disc pallor, Lateral ventricle dilatation, Increased C... ORPHA:565624
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:607131
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Lethargy, Spasticity OMIM:614299
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Baraitser-Winter Syndrome 1
Microcephaly, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:243310
Agnathia-Otocephaly Complex
Agenesis of corpus callosum, Holoprosencephaly OMIM:202650
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hydrocephalus, Ventriculomegaly ORPHA:858
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation, Neonatal... OMIM:610015
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migr... ORPHA:157
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Focal clonic seizure,... OMIM:220120
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Hypoplasia of the corpus callosum ORPHA:1516
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Angelman Syndrome
Broad-based gait, Ataxia, Infantile spasms, Tremor, Inability to walk, Obesity, Seizure, Status e... ORPHA:72
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:459061
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Frontal hirsutism, Spastici... OMIM:612949
D-Glyceric Aciduria
Chorea, Seizure, Myoclonus, Brain atrophy, Spasticity ORPHA:941
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... OMIM:615491
Brain Malformations With Or Without Urinary Tract Defects
Ventriculomegaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:613735
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... OMIM:254780
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Peho Syndrome
Cerebellar atrophy, Epicanthus, Seizure, Myoclonus, Neuronal loss in central nervous system OMIM:260565
Desmosterolosis
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Abnormality of... ORPHA:35107
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon ORPHA:275543
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Partial agenesis of the corpus callosum, Thin corpus callosum OMIM:619653
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Extra-axial cerebrosp... OMIM:616900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Thin corpus callosum, Microcephaly OMIM:615716
Multiple Mitochondrial Dysfunctions Syndrome 1
Failure to thrive, Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrap... OMIM:605711
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Curry-Jones Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:1553
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Microcephaly, Periventricular heterotopia, Hydrocephalus, Colpocephaly, Periventricular leukomala... OMIM:619833
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... OMIM:608030
Combined Oxidative Phosphorylation Deficiency 24
Increased CSF lactate, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:616239
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Hypothalamic hamartoma, Microcephaly OMIM:241800
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr... OMIM:220220
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Seizure, Status epilepticus, Myoclo... OMIM:607426
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Ataxia, Myoclonus, Ptosis OMIM:560000
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe... OMIM:616973
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Megalencephaly, Hydrocephalus, Thick corpus callosum, Hypoplasia of the corpus callosum, Pachygyr... OMIM:603387
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Polymicrogyria, Agenesis of corpus ca... ORPHA:220493
Congenital Myopathy 9A
Tongue fasciculations, Akinesia, Obesity OMIM:618822
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Akinesia, Spastic tetraplegia, Seizure, Hypertonia, Failure to thrive,... OMIM:619147
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonic seizure, Seizure, Myocl... OMIM:614946
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Cerebral ... OMIM:613839
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Microcephaly, Lateral ventricle dilatatio... OMIM:617751
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Lateral ventricle dilatation, Abnormal caudate nucleus morphology,... ORPHA:2148
Vici Syndrome
Hypoplasia of the pons, Gray matter heterotopia, Cerebellar hypoplasia, Agenesis of corpus callos... ORPHA:1493
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Retinal dystrophy, Subretinal deposits, Meningocele, A... ORPHA:397715
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus OMIM:612863
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Intracerebral periventricular calcifications, Cerebral calcification, Cerebellar vermis hypoplasi... ORPHA:228308
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Infantile spasms, G... ORPHA:1934
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Colpocephaly, Agenesis of corpus ... OMIM:609053
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Bilateral tonic-clonic seizure, Babinski sign, Seizure, Status epilepticus, M... ORPHA:364028
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum ORPHA:228390
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Cognitiv... OMIM:608627
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holoprosencephaly OMIM:618651
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Microcephaly OMIM:619278
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Seizure, Hyp... OMIM:616271
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Seizure, Failure to thrive, Myoclonus OMIM:300673
16P13.11 Microdeletion Syndrome
Microcephaly, Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corpus callosum, ... ORPHA:261236
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Facial palsy OMIM:256850
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia OMIM:618929
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ... OMIM:620113
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Rod-cone dystrophy, Ventriculomegaly ORPHA:572798
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia, Ataxia, Rigidity, Gait apraxia, Abnormal pyramidal sign, Babinski sign, Dysmetria, Deme... OMIM:600142
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Choroid plexus cyst, Hypoplasia of the olfactory bulb, Agenesis of co... ORPHA:1827
Sialidosis Type 1
Ataxia, Tremor, Slurred speech, Seizure, Gait disturbance, Myoclonus ORPHA:812
Microcephaly 13, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop... OMIM:616051
Autosomal Recessive Ataxia, Beauce Type
Cerebellar atrophy, Short attention span, Lower limb spasticity, Impaired vibratory sensation, At... ORPHA:88644
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Optic nerve hypopla... OMIM:236670
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:612940
Congenital Sialidosis Type 2
Ataxia, Hydrocephalus, Dysmetria, Seizure, Myoclonus, Generalized hypertrichosis, Spasticity ORPHA:93400
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Nipah Virus Disease
Tremor, Seizure, Myoclonus ORPHA:99825
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Nasu-Hakola Disease
Hydrocephalus, Cerebral calcification, Cerebral cortical atrophy, Ventriculomegaly ORPHA:2770
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai... OMIM:254900
Trisomy 1Q
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Ventriculomegaly ORPHA:261344
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Melas
Short attention span, Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Fo... ORPHA:550
Schindler Disease, Type I
Seizure, Spasticity, Myoclonus OMIM:609241
Pseudotrisomy 13 Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogy... OMIM:264480
Curry-Jones Syndrome
Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ... OMIM:601707
Niemann-Pick Disease Type C
Generalized-onset seizure, Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramid... ORPHA:646
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Achard Syndrome
Broad skull, Brachycephaly OMIM:100700
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Hyperekplexia 1
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures OMIM:149400
Valinemia
Failure to thrive, Hyperkinetic movements OMIM:277100
Intellectual Developmental Disorder, Autosomal Dominant 22
Agenesis of corpus callosum, Choroid plexus cyst, Microcephaly OMIM:612337
Meckel Syndrome 12
Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ... OMIM:616258
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Decreased body weight, Ataxia, Photosensitive tonic-clonic seizure, Loss of a... OMIM:300243
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation,... OMIM:618606
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ventriculomegaly, Optic nerve hypoplasia, Microcephaly, Periventricular heterotopia, Hypoplasia o... ORPHA:468631
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Craniosynostosis OMIM:614416
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Neuraminidase Deficiency
Seizure, Slurred speech, Myoclonus, Dysmetria OMIM:256550
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Papilledema, Hydrocephalus OMIM:260500
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasi... OMIM:615802
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, Lagophthalmos, Athetosis, Myoclonus, Oculomotor apraxia, Atonic seizure, Cerebellar atrop... ORPHA:404454
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, ... ORPHA:314679
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Cerebral atrophy, Seizure, Myoclonus, Dystonia OMIM:620167
Neuroblastoma, Susceptibility To, 1
Ataxia, Horner syndrome, Weight loss, Myoclonus, Failure to thrive OMIM:256700
Nephronophthisis 18
Hydrocephalus, Retinitis OMIM:615862
Japanese Encephalitis
Dystonia, Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Paralys... ORPHA:79139
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca... ORPHA:488627
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation OMIM:612301
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Agenesis of corpus callosum OMIM:147950
Acromelic Frontonasal Dysostosis
Encephalocele, Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Choroid plexus cyst, Gr... OMIM:603671
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Stillbirth, Ce... OMIM:243605
Ring Chromosome 22 Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly ORPHA:1446
Aicardi Syndrome
Retinal detachment, Spina bifida, Chorioretinal lacunae, Partial agenesis of the corpus callosum,... OMIM:304050
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu... OMIM:619720
Brain-Lung-Thyroid Syndrome
Short attention span, Incoordination, Ataxia, Involuntary movements, Dystonia, Chorea, Clumsiness... ORPHA:209905
Braddock-Carey Syndrome 1
Agenesis of corpus callosum, Microcephaly OMIM:619980
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Agenesis of corpus callosum, Microcephaly OMIM:300004
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr... OMIM:617260
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly ORPHA:563612
Hyperphosphatasia-Intellectual Disability Syndrome
Epicanthus, Ataxia, Bilateral tonic-clonic seizure, Highly arched eyebrow, Supernumerary nipple, ... ORPHA:247262
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... ORPHA:391428
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum, Septo-optic dysplasia ORPHA:3301
Pseudo-Torch Syndrome 2
Cerebral calcification, Microcephaly, Gray matter heterotopia, Lateral ventricle dilatation, Cere... OMIM:617397
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Cerebral atrophy, Seizure, Hyperkinetic movements, Difficulty walking, Truncal ataxia ORPHA:369847
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Hypertonia... OMIM:618426
Ataxia-Telangiectasia
Conjunctival telangiectasia, Ataxia, Tremor, Inability to walk, Abnormal hair morphology, Slurred... OMIM:208900
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Hyperkinetic movements ORPHA:397933
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Trunc... OMIM:301072
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus callosum, Hyperintens... ORPHA:481152
Optic Atrophy 11
Ataxia, Gait apraxia, Dysmetria, Athetosis, Seizure, Hyperkinetic movements, Attention deficit hy... OMIM:617302
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Optic Pathway Glioma
Papilledema, Hydrocephalus, Optic atrophy ORPHA:2086
Coffin-Siris Syndrome 11
Agenesis of corpus callosum OMIM:618779
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Agene... OMIM:616449
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Hyperkinetic movements, Upper limb s... ORPHA:457240
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... OMIM:618598
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly ORPHA:139471
Duplication Of The Pituitary Gland
Encephalocele, Microcephaly, Abnormal hypothalamus morphology, Hypoplasia of olfactory tract, Age... ORPHA:314621
Ritscher-Schinzel Syndrome 4
Mild fetal ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker mal... OMIM:619435
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hypertonia, G... ORPHA:309854
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Lens coloboma OMIM:618914
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Epilepsia partialis continua, Failure to thrive, Ataxia, Paralysis, Cerebral ... OMIM:203700
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Microcephaly ORPHA:261144
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation, Optic atrophy, Chorioretinal atrophy OMIM:619487
Emanuel Syndrome
Ventriculomegaly, Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter m... ORPHA:96170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Hypoplasia of the corpus cal... OMIM:616538
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Abnormal optic nerve morphology, Spina bifida ORPHA:3412
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... OMIM:619103
Cerebrotendinous Xanthomatosis
Abnormal eyelid morphology, Axonal degeneration, Progressive psychomotor deterioration, Abnormal ... ORPHA:909
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... OMIM:611134
Kleefstra Syndrome Due To 9Q34 Microdeletion
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop... ORPHA:96147
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ... OMIM:620073
Fumarase Deficiency
Microcephaly, Choroid plexus cyst, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, ... OMIM:606812
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Spasticity OMIM:618972
Microtriplication 11Q24.1
Speech apraxia, Synophrys, Obesity, Upslanted palpebral fissure, Seizure, Hyperkinetic movements,... ORPHA:289522
Infantile Sialic Acid Storage Disease
Hydrocephalus, Cerebral atrophy OMIM:269920
Birk-Landau-Perez Syndrome
Pachygyria, Agenesis of corpus callosum, Microcephaly OMIM:617595
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventriculomegaly, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the ... OMIM:301056
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly ORPHA:588
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Microcephaly OMIM:300558
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620250
Pyruvate Carboxylase Deficiency
Cerebral white matter atrophy, Increased CSF alanine concentration, Increased CSF citrulline conc... ORPHA:3008
Developmental And Epileptic Encephalopathy 101
Seizure, Myoclonus, Opisthotonus OMIM:619814
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Endocrine-Cerebroosteodysplasia
Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla... OMIM:612651
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Developmental And Epileptic Encephalopathy 2
Multifocal seizures, Generalized-onset seizure, Infantile spasms, Inability to walk, Seizure, Myo... OMIM:300672
Desmosterolosis
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypoplasia of the c... OMIM:602398
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Microform Holoprosencephaly
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly ORPHA:280200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Optic atrophy ORPHA:99947
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:609757
9P13 Microdeletion Syndrome
Epicanthus, Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Hand tremor, Myoclonus... ORPHA:324313
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Microcephaly, Spina bifida occulta, Small cerebral cortex, Hypoplasia of the corpus callosum, Per... OMIM:617360
Marden-Walker Syndrome
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo... OMIM:248700
Chromosome 5P13 Duplication Syndrome
Agenesis of corpus callosum OMIM:613174
Serotonin Syndrome
Confusion, Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus, Mental deterioration, Delirium ORPHA:43116
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Gaucher Disease, Perinatal Lethal
Akinesia, Progressive neurologic deterioration, Opisthotonus, Seizure, Decreased body weight, Ven... OMIM:608013
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Microcephaly ORPHA:398189
Glutaric Acidemia I
Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Microcephaly, Hypodysplasia of the corpus callosum, Hydrocephalus, Cerebellar h... OMIM:257300
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Facial palsy, Macular coloboma OMIM:107550
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Aplasia/... ORPHA:1908
Pancreatic Agenesis-Holoprosencephaly Syndrome
Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly ORPHA:556955
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements, Cognitive impairment ORPHA:209970
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Progressive psychomotor deterioration, Obesity, Seizure, Myoclonus, Brain atr... ORPHA:251004
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Extra-axial cerebrospinal flu... OMIM:619179
Whipple Disease
Ataxia, Cachexia, Hydrocephalus, Abnormal pyramidal sign, Seizure, Myoclonus ORPHA:3452
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Aplasia/Hypoplasia of th... ORPHA:3157
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Hydrocephalus, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Retinal dystrophy, Aqueductal stenosis, Partial agenesis of the corpus callosum, Hydrocephalus, O... OMIM:619512
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu... OMIM:618500
Immunodeficiency 49
Agenesis of corpus callosum, Reduced cerebral white matter volume OMIM:617237
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Kinsship Syndrome
Dandy-Walker malformation, Ventriculomegaly, Bilateral tonic-clonic seizure, Spastic tetraparesis... OMIM:619297
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Intellectual Developmental Disorder, Autosomal Recessive 65
Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum OMIM:618109
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly, Retinal degeneration OMIM:615630
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Ataxia, Babinski sign, Gait ataxia, Seizure, Hyperkinetic movements, Loss of ... OMIM:620089
Combined Oxidative Phosphorylation Deficiency 11
Seizure, Tongue fasciculations, Myoclonus, Lethargy, Cerebral cortical atrophy OMIM:614922
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th... OMIM:620305
Nizon-Isidor Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:618872
Slc35A2-Cdg
Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:356961
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha... OMIM:301043
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w... OMIM:620075
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormal septum pellucidum morphology, Hydrocephalus, Cerebral atrophy ORPHA:171839
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ... ORPHA:457284
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Myoclonus, Cerebral atrophy OMIM:619609
Radio-Tartaglia Syndrome
Gray matter heterotopia, Agenesis of corpus callosum, Microcephaly OMIM:619312
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Seizure, Myoclonus, Cerebral atrophy OMIM:614462
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, White eyelashes, Ataxia, White eyebrow, Spastic tetraplegia, Cerebral atrophy, Dista... OMIM:609136
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly ORPHA:87
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Intracerebral periventricular calcifications, Microcephaly, Abnormality of neuronal migration, Ba... OMIM:608836
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Agenesis of corpus callosum ORPHA:52055
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Seizure, Ataxia, Myoclonus, Dystonia OMIM:619167
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Occipital meningocele, ... OMIM:277170
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... ORPHA:1692
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Seco... OMIM:618820
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short attention span, Unsteady gait, Cerebral atrophy, Choreoathetosis, Seizure, Hypertonia, Hype... ORPHA:17
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele, Optic atrophy ORPHA:1914
Nmda Receptor Encephalitis
Short attention span, Generalized-onset seizure, Confusion, Involuntary movements, Oculogyric cri... ORPHA:217253
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy OMIM:607485
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cerebellar h... ORPHA:1647
Leigh Syndrome
Progressive neurologic deterioration, Chorea, Choreoathetosis, Frontal hirsutism, Agenesis of cor... ORPHA:506
Donnai-Barrow Syndrome
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c... OMIM:222448
Toriello-Carey Syndrome
Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypopl... ORPHA:3338
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclo... ORPHA:478029
Bresek Syndrome
Neonatal death, Hydrocephalus, Optic nerve hypoplasia, Microcephaly ORPHA:85284
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... ORPHA:464738
Dpagt1-Cdg
Epileptic spasm, Ataxia, Akinesia, Tremor, Inability to walk, Focal motor seizure, Seizure, Hyper... ORPHA:86309
Trichothiodystrophy 4, Nonphotosensitive
Partial agenesis of the corpus callosum, Cerebral cortical atrophy, Microcephaly OMIM:234050
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:2655
Autoimmune Hypoparathyroidism
Confusion, Conjunctivitis, Paresthesia, Myoclonic spasms, Laryngeal dystonia, Hypocalcemic seizures ORPHA:36913
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Polymicrogyria, Ventriculomegaly ORPHA:60040
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotop... OMIM:617822
Chromosome 14Q11-Q22 Deletion Syndrome
Lateral ventricular asymmetry, Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Agene... OMIM:613457
Diabetic Embryopathy
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Aplasi... ORPHA:1926
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Distal Deletion 10Q
Facial diplegia, Lateral ventricle dilatation, Spina bifida occulta ORPHA:96148
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Microcephaly, Hydrocephalus, Cerebral atrophy, Hypoplasia of the corp... OMIM:614576
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Optic atrophy ORPHA:93262
Bohring-Opitz Syndrome
Microcephaly, Gray matter heterotopia, Hypoplasia of the brainstem, Hypoplasia of the corpus call... OMIM:605039
Intellectual Disability-Strabismus Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly ORPHA:363528
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu... OMIM:616975
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:250989
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Ap... ORPHA:475
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Orofaciodigital Syndrome I
Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce... OMIM:311200
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebral atrophy, ... OMIM:252160
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls OMIM:184850
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Small for gest... OMIM:617799
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Microcephaly OMIM:613330
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Alopecia, Involuntary movements, Ak... ORPHA:3385
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Gliosis, Abnormality of visual evoked potentials OMIM:256600
Lathosterolosis
Ptosis, Epicanthus, Meningocele, Seizure, Myoclonus, Failure to thrive, Downslanted palpebral fis... ORPHA:46059
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Highl... OMIM:619124
Alexander Disease
Cerebral calcification, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Agenesis of corpus ca... ORPHA:58
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Periventricular heterotopia, Colpocephaly, Hypoplasia of the corpus callo... ORPHA:261250
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Ap... ORPHA:2318
Crouzon Syndrome
Hydrocephalus, Optic atrophy, Iris coloboma ORPHA:207
Orofaciodigital Syndrome Type 3
Focal seizure with eyelid myoclonia, Abnormality of hair texture, Myoclonus, Oculomotor apraxia, ... ORPHA:2752
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Attention deficit hyperactivity disorder... ORPHA:64280
Holoprosencephaly 7
Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, L... OMIM:610828
Temple Syndrome
Hydrocephalus ORPHA:254516
Farber Disease
Infantile spasms, Paraparesis, Seizure, Abnormal conjunctiva morphology, Myoclonus, Brain atrophy... ORPHA:333
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Cerebral Visual Impairment
Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, I... ORPHA:447788
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation OMIM:611209
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Pallidal degeneration, T2 hypointense basal ganglia, Abnormal putame... ORPHA:25
Methylcobalamin Deficiency Type Cble
Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of the brainst... ORPHA:2169
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Myoclonus, Failure to thrive, Cortical myoclonus OMIM:615816
Craniosynostosis 2
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep... OMIM:604757
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Hydrocephalus, Temporal lobe dysplasia OMIM:187600
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly, Retinal degeneration OMIM:272200
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microcephaly, Anencephaly, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:619148
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... OMIM:614424
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Hemangioblastoma
Hydrocephalus ORPHA:252054
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation, Abnormal caudate nucleus morphology, Primary m... ORPHA:293725
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor, Ventriculomegaly ORPHA:314389
Monosomy 13Q34
Agenesis of corpus callosum, Microcephaly ORPHA:96168
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, C... OMIM:615356
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Retinal dystrophy OMIM:263520
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Agenesis of corpus callosum OMIM:300472
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Xp21 Deletion Syndrome
Agenesis of corpus callosum ORPHA:261476
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Hartsfield Syndrome
Microcephaly, Alobar holoprosencephaly, Lobar holoprosencephaly, Agenesis of corpus callosum, Sem... OMIM:615465
Basal Cell Nevus Syndrome 2
Hydrocephalus, Calcification of falx cerebri OMIM:620343
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly, Aplasia/Hypoplasia of the corpus callosum ORPHA:3376
Congenital Disorder Of Deglycosylation 1
Ptosis, Pain insensitivity, Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Athetosi... OMIM:615273
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Dandy-Walker malformation, Lissencephaly, Secondary microcephaly OMIM:612938
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis ORPHA:3035
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Spastic hemiparesis, Weight loss, Seizure, Myoclonus, Lethargy, Spasticity ORPHA:20
B4Galt1-Cdg
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:79332
Fetal Akinesia Deformation Sequence
Pterygium, Dandy-Walker malformation, Akinesia ORPHA:994
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly OMIM:217980
Joubert Syndrome 1
Enlarged fossa interpeduncularis, Hemifacial spasm, Epicanthus, Ataxia, Highly arched eyebrow, Oc... OMIM:213300
Gorlin Syndrome
Hydrocephalus, Cerebral calcification ORPHA:377
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... OMIM:601152
15Q Overgrowth Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:314585
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Neonatal death OMIM:251230
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus, F... OMIM:619055
Albers-Schönberg Osteopetrosis
Hydrocephalus, Optic atrophy, Facial palsy ORPHA:53
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Seizure, Spasticity, Myoclonus OMIM:246450
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle ORPHA:544488
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Orofaciodigital Syndrome Type 5
Agenesis of corpus callosum, Microcephaly ORPHA:2919
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Agenesis of corpus callosum OMIM:309520
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy, Abnormality of peripheral nerv... ORPHA:585
Multiple Pterygium Syndrome, Lethal Type
Epicanthus, Akinesia, Multiple pterygia OMIM:253290
Fryns Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Cerebral cortical atrophy, Dandy-Walker malformation ORPHA:2059
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis ORPHA:1788
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Optic disc pallor, Lateral ventricle dilatation OMIM:619869
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... ORPHA:93958
Kleefstra Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly ORPHA:261494
Cono-Spondylar Dysplasia
Partial agenesis of the corpus callosum ORPHA:420794
Encephalocraniocutaneous Lipomatosis
Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,... ORPHA:2396
Spondylometaphyseal Dysplasia, Sedaghatian Type
Pachygyria, Agenesis of corpus callosum, Cerebellar hypoplasia ORPHA:93317
Sotos Syndrome
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:117550
Pfeiffer Syndrome Type 1
Aqueductal stenosis ORPHA:93258
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cerebral white matter atrophy, Microcephaly, Dilated third ventricle, Hydrocephalus, Hypoplasia o... ORPHA:500055
Peroxisome Biogenesis Disorder 5A (Zellweger)
Macrogyria, Colpocephaly, Cerebellar hypoplasia, Pachygyria, Agenesis of corpus callosum, Polymic... OMIM:614866
Apert Syndrome
Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpu... OMIM:101200
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia, Agenesis of corpus callosum OMIM:276300
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Genitopatellar Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:85201
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
8P Inverted Duplication/Deletion Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:96092
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... ORPHA:268943
Sturge-Weber Syndrome
Retinal detachment, Abnormal retinal vascular morphology, Hydrocephalus, Optic atrophy, Abnormal ... ORPHA:3205
Congenital Myopathy 12
Small for gestational age, Akinesia OMIM:612540
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Microcep... OMIM:210710
Pgm3-Cdg
Ataxia, Seizure, Narrow palpebral fissure, Myoclonus, Failure to thrive, Cortical myoclonus ORPHA:443811
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Holoprosencephaly 9
Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Partial agenesis... OMIM:610829
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Bainbridge-Ropers Syndrome
Lateral ventricle dilatation OMIM:615485
Chromosome 13Q14 Deletion Syndrome
Absent septum pellucidum, Agenesis of corpus callosum, Holoprosencephaly, Hypoplasia of the corpu... OMIM:613884
Galloway-Mowat Syndrome
Aqueductal stenosis ORPHA:2065
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Cerebral calcification, Ventriculomegaly, Abnormal periven... ORPHA:1855
Hydrolethalus Syndrome 1
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Still... OMIM:236680
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Abnormal cerebral white matter mo... ORPHA:75857
Emanuel Syndrome
Ventriculomegaly, Microcephaly, Hydrocephalus, Cerebral atrophy, Hypoplasia of the corpus callosu... OMIM:609029
Opsoclonus-Myoclonus Syndrome
Ataxia, Rigidity, Myoclonus, Cognitive impairment, Limb myoclonus ORPHA:1183
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Seizure, Myoclonic spa... OMIM:252150
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Myoclonus ORPHA:168593
Arachnoiditis
Hydrocephalus ORPHA:137817
Temple Syndrome
Hydrocephalus OMIM:616222
Holoprosencephaly 1
Microcephaly, Alobar holoprosencephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c... OMIM:236100
Opitz Gbbb Syndrome
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly OMIM:300000
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... OMIM:151050
Peho Syndrome
Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral cortical atrophy, Ventriculomegaly ORPHA:2836
X-Linked Intellectual Disability, Snyder Type
Unilateral ptosis, Involuntary movements, Sparse eyebrow, Inability to walk, Synophrys, Unsteady ... ORPHA:3063
Neonatal Lupus Erythematosus
Basal ganglia calcification, Hydrocephalus, Abnormal cerebral white matter morphology ORPHA:398124
Charge Syndrome
Facial palsy, Aqueductal stenosis, Optic atrophy, Holoprosencephaly, Chorioretinal coloboma, Iris... ORPHA:138
Heterotaxy, Visceral, 2, Autosomal
Agenesis of corpus callosum, Microcephaly OMIM:605376
Rabin-Pappas Syndrome
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasi... OMIM:620155
Weaver Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:277590
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:227646
Orofaciodigital Syndrome V
Agenesis of corpus callosum, Microcephaly OMIM:174300
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Osteopetrosis, Autosomal Recessive 2
Cranial nerve compression, Facial paralysis, Optic atrophy, Hydrocephalus OMIM:259710
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:305450
Hec Syndrome
Abnormal retinal vascular morphology, Communicating hydrocephalus ORPHA:2119
Tenorio Syndrome
Cavum septum pellucidum, Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly OMIM:616260
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Fanconi Anemia, Complementation Group B
Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:300514
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Hypothalamic hamartoma, ... OMIM:206900
21Q22.11Q22.12 Microdeletion Syndrome
Agenesis of corpus callosum, Microcephaly ORPHA:261323
Toriello-Lacassie-Droste Syndrome
Agenesis of corpus callosum, Absent septum pellucidum ORPHA:3339
Proteus-Like Syndrome
Communicating hydrocephalus, Retinal detachment, Hydrocephalus ORPHA:2969
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Cerebellar hypoplasia ORPHA:163966
Fanconi Anemia, Complementation Group R
Hydrocephalus, Microcephaly OMIM:617244
Rhombencephalosynapsis
Hydrocephalus, Agenesis of cerebellar vermis, Ventriculomegaly, Septo-optic dysplasia ORPHA:59315
Arthrogryposis Multiplex Congenita 5
Akinesia, Hand tremor, Upslanted palpebral fissure, Hypertonia, Dystonia, Ptosis OMIM:618947
Marshall-Smith Syndrome
Absent septum pellucidum, Optic nerve hypoplasia, Hydrocephalus, Cerebral atrophy, Macrogyria, Ce... OMIM:602535
Plasminogen Deficiency, Type I
Cerebellar hypoplasia, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tetraplegia, Seizure, Myoclonus, Brain atrophy, Dystonia, Failure to thrive, Ventriculomegaly OMIM:618278
Marden-Walker Syndrome
Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus ... ORPHA:2461
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Synophrys, Hyper... ORPHA:447997
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Cerebral atrophy, Microcephaly OMIM:614886
Aicardi Syndrome
Microcephaly, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the cerebellum, Pach... ORPHA:50
Pfeiffer Syndrome Type 3
Aqueductal stenosis ORPHA:93260
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypoplasia... OMIM:616546
Mosaic Trisomy 8
Agenesis of corpus callosum ORPHA:96061
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventriculomegaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:619418
Knobloch Syndrome
Retinal detachment, Occipital encephalocele, Hydrocephalus, Abnormal vitreous humor morphology, M... ORPHA:1571
Right Atrial Isomerism
Agenesis of corpus callosum OMIM:208530
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
3C Syndrome
Ventriculomegaly, Hydrocephalus, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cer... ORPHA:7
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Ischemic stroke, Increased CSF lactate ORPHA:90065
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Periventricular heterotopia,... OMIM:615948
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Cerebellar hypoplasia, Hypoplasia ... OMIM:618590
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Retinal coloboma, Hydranencephaly, Iris coloboma ORPHA:2839
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:1860
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria ORPHA:65285
Ethylene Glycol Poisoning
Ataxia, Confusion, Slurred speech, Seizure, Myoclonus ORPHA:31826
Opitz Gbbb Syndrome
Ventriculomegaly, Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hypoplasia of the co... ORPHA:2745
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok... ORPHA:485421
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Hydrocephalus, Hypoplasia of the corpus callosum, Megalencephaly OMIM:616482
Histiocytoid Cardiomyopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... ORPHA:261552
Muenke Syndrome
Hydrocephalus ORPHA:53271
Lowry-Maclean Syndrome
Hydrocephalus, Microcephaly, Aplasia/Hypoplasia of the corpus callosum ORPHA:2409
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly ORPHA:847
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Upslanted palpebral fissure, Myoclonus, Blepharophimosis ORPHA:1352
Bohring-Opitz Syndrome
Microcephaly, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Agenesis of corpus ca... ORPHA:97297
14Q22Q23 Microdeletion Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:264200
Sialuria
Epicanthus, Seizure, Hyperkinetic movements, Attention deficit hyperactivity disorder, Memory imp... ORPHA:3166
Neu-Laxova Syndrome 1
Ventriculomegaly, Spina bifida, Choroid plexus cyst, Stillbirth, Lissencephaly, Neonatal death, C... OMIM:256520
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation, Rod-cone dystrophy OMIM:300896
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Hydrocephalus, Optic atrophy, Undetectable visual evoked potenti... OMIM:259720
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal mig... ORPHA:1454
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Microcephaly, Periventricular heterotopia, Partial agenesis of the corp... ORPHA:434179
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Spina bifida, Microcephaly, Hypoplasia of the corpus callosum, Periventri... ORPHA:508498
Trisomy 8P
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly ORPHA:264450
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Retinal atrophy, Hydrocephalus, Optic atrophy, Coloboma, Hypoplasia of the reti... OMIM:253280
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Microcephaly, Hydrocephalus,... OMIM:249000
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Hydrocephalus, Hy... OMIM:608091
Structural Heart Defects And Renal Anomalies Syndrome
Partial agenesis of the corpus callosum, Microcephaly OMIM:617478
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231214
Pseudohypoparathyroidism Type 2
Laryngeal dystonia, Hypocalcemic seizures, Paresthesia, Myoclonic spasms ORPHA:94090
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Facial paralysis, Optic atrophy, Facial palsy OMIM:259700
Vici Syndrome
Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Gray matter heterotopia, Agenesis of ... OMIM:242840
Craniopharyngioma
Abnormal hypothalamus morphology, Hydrocephalus, Cerebral calcification ORPHA:54595
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Incr... ORPHA:309256
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum OMIM:613091
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2658
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Craniofrontonasal Syndrome
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:304110
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum ORPHA:306542
Helsmoortel-Van Der Aa Syndrome
Lateral ventricle dilatation, Gliosis, Facial palsy, Ventriculomegaly OMIM:615873
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation ORPHA:177907
Trichothiodystrophy
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Periventricular l... ORPHA:33364
Dural Sinus Malformation
Myelopathy, Hydrocephalus, Hypoplasia of the frontal lobes, Cerebral edema ORPHA:97339
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Porencephalic cyst, Periventricular leukomalacia ORPHA:974
Jacobsen Syndrome
Spina bifida, Cerebral atrophy, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly ORPHA:2308
Meningioma
Hemifacial spasm, Abnormal central motor function, Ataxia, Focal-onset seizure, Hydrocephalus, Ob... ORPHA:2495
Genitopalatocardiac Syndrome
Hydrocephalus, Microcephaly ORPHA:2075
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Cerebral cortical atrophy ORPHA:1834
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Tetrasomy 5P
Pericallosal lipoma, Hydrocephalus, Cerebellar hypoplasia ORPHA:3309
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Epicanthus, Ataxia, Abnormal location of the eyebrow, Almond-shaped palpebral fissure, Chorea, Wi... ORPHA:522077
Trisomy 17P
Hydrocephalus, Microcephaly ORPHA:261290
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon OMIM:154400
Orofaciodigital Syndrome Iii
Hyperconvex nail, Myoclonus OMIM:258850
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Incr... ORPHA:309263
Gabriele-De Vries Syndrome
Lateral ventricle dilatation OMIM:617557
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Pseudohypoparathyroidism Type 1A
Involuntary movements, Confusion, Obesity, Choreoathetosis, Conjunctivitis, Paresthesia, Myocloni... ORPHA:79443
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Coffin-Siris Syndrome
Agenesis of corpus callosum, Simplified gyral pattern, Dandy-Walker malformation, Microcephaly ORPHA:1465
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Fg Syndrome Type 1
Hydrocephalus, Optic nerve hypoplasia, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum ORPHA:93932
Perlman Syndrome
Agenesis of corpus callosum OMIM:267000
Coffin-Siris Syndrome 4
Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:614609
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Phace Syndrome
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W... ORPHA:42775
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Laurin-Sandrow Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum ORPHA:2378
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus OMIM:314390
Holoprosencephaly 2
Microcephaly, Alobar holoprosencephaly, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of cor... OMIM:157170
Osteopathia Striata With Cranial Sclerosis
Partial agenesis of the corpus callosum, Spina bifida occulta, Hydrocephalus OMIM:300373
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Microcephaly, Ventriculomegaly, Megalencephaly OMIM:613603
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Posterior fossa cyst at the fourth ventricle, Mi... ORPHA:2356
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Epileptic spasm, Exaggerated startle response, Involuntary movements, Almond-sh... ORPHA:438213
Chromosome 1P36 Deletion Syndrome, Distal
Optic disc pallor, Hydrocephalus, Optic disc coloboma, Optic atrophy, Lateral ventricle dilatatio... OMIM:607872
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation, Gliosis OMIM:300868
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Ventriculomegaly OMIM:619479
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Microcephaly ORPHA:1865
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Retinopathy, Hydrocephalus, Optic atrophy ORPHA:220295
Crouzon Syndrome
Hydrocephalus, Optic atrophy OMIM:123500
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic nerve hypoplasia, Dysplastic corpus callosum, Optic atrophy, Lateral ventricle dilatation, ... ORPHA:500150
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Primary Ciliary Dyskinesia
Hydrocephalus, Rod-cone dystrophy, Ventriculomegaly ORPHA:244
Microgastria-Limb Reduction Defect Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration ORPHA:2538
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Mucopolysaccharidosis, Type Ii
Papilledema, Hydrocephalus, Abnormality of retinal pigmentation OMIM:309900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus, Cerebral cortical atrophy OMIM:239300
Myoectodermal Gonadal Dysgenesis Syndrome
Agenesis of corpus callosum OMIM:618419
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
47,Xyy Syndrome
Congenital stationary night blindness, Hydrocephalus ORPHA:8
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Writer's cramp, Paresthesia, Abnormality of the nail, C... ORPHA:428
Listeriosis
Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Seizure, Conjunctivitis, Myoclonus ORPHA:533
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:2720
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocepha... OMIM:605627
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Microcephaly, Periventricular heterotopia, Partial agenesis of the corp... OMIM:270400
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Agenesis of corpus callosum, Microcephaly ORPHA:220386
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation, Iris coloboma OMIM:181270
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Agenesis of corpus callosum OMIM:618748
Pseudohypoparathyroidism Type 1C
Confusion, Obesity, Conjunctivitis, Paresthesia, Myoclonic spasms, Laryngeal dystonia, Hypocalcem... ORPHA:79444
Genitopatellar Syndrome
Microcephaly, Periventricular heterotopia, Colpocephaly, Pachygyria, Agenesis of corpus callosum,... OMIM:606170
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:619194
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cerebral white matter hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:477993
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Absent septum pellucidum, Holoprosencephaly, Agene... ORPHA:95494
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpus ... ORPHA:363958
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Holoprosen... ORPHA:2166
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bifida OMIM:619480
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum,... ORPHA:352665
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Khan-Khan-Katsanis Syndrome
Colpocephaly, Cerebellar vermis hypoplasia, Ventriculomegaly, Microcephaly OMIM:618460
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:618367
Scorpion Envenomation
Hemifacial spasm, Ataxia, Tremor, Seizure, Hyperkinetic movements, Paresthesia, Myoclonus ORPHA:466677
Achondroplasia
Hydrocephalus ORPHA:15
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Fryns Syndrome
Hypoplasia of the optic tract, Stillbirth, Hypoplasia of olfactory tract, Agenesis of corpus call... OMIM:229850
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Microcephaly, Spina bifida, Diffuse cerebral atrophy OMIM:613776
Ring Chromosome 13 Syndrome
Anencephaly, Agenesis of corpus callosum, Microcephaly ORPHA:96176
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Intracerebral periventricular calcifications, Cerebral white matter ... ORPHA:168577
Gabriele-De Vries Syndrome
Abnormal cerebral white matter morphology, Ventriculomegaly, Agenesis of corpus callosum, Hypopla... ORPHA:506358
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Pseudohypoparathyroidism Type 1B
Conjunctivitis, Paresthesia, Myoclonic spasms, Laryngeal dystonia, Hypocalcemic seizures ORPHA:94089
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Myelomeningocele OMIM:306955
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly ORPHA:2556
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly, Cerebellar vermis hypoplasia, Microcephaly OMIM:620083
Wolf-Hirschhorn Syndrome
Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular cysts, Cavum septum pelluc... OMIM:194190
Poliomyelitis
Confusion, Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fascic... ORPHA:2912
Monosomy 18Q
Hydrocephalus, Microcephaly, Cerebellar hypoplasia, Diffuse white matter abnormalities ORPHA:1600
Congenital Myopathy 22A, Classic
Neonatal death, Normal pressure hydrocephalus OMIM:620351
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Monosomy 9P
Agenesis of corpus callosum, Microcephaly ORPHA:261112
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Mohr Syndrome
Hydrocephalus, Porencephalic cyst OMIM:252100
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Microcephaly, M... OMIM:619841
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Achondroplasia
Hydrocephalus, Megalencephaly OMIM:100800
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Yunis-Varon Syndrome
Hydrocephalus, Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Primary microcephaly, Pach... ORPHA:3472
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Agenesis of corpus callosum ORPHA:168558
Acrocallosal Syndrome
Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum OMIM:200990
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Agenesis of corpus callosum ORPHA:289548
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus, Optic atrophy ORPHA:1555
Orofaciodigital Syndrome Type 1
Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:2750
Cardiofaciocutaneous Syndrome 1
Hydrocephalus, Hypoplasia of the frontal lobes, Cerebral cortical atrophy, Aplasia/Hypoplasia of ... OMIM:115150
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Cerebral cortical atrophy OMIM:616007
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Tick-Borne Encephalitis
Speech apraxia, Somatic sensory dysfunction, Generalized-onset seizure, Incoordination, Paralysis... ORPHA:297
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pi... ORPHA:79282
Holoprosencephaly
Encephalocele, Microcephaly, Hydrocephalus, Abnormality of neuronal migration, Spinal dysraphism,... ORPHA:2162
Hurler Syndrome
Hydrocephalus, Retinal degeneration OMIM:607014
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:226307
Jacobsen Syndrome
Hydrocephalus, Optic atrophy, Macular hypoplasia, Holoprosencephaly, Chorioretinal coloboma, Iris... OMIM:147791
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Pontocerebellar Hypoplasia Type 7
Epicanthus, Involuntary movements, Upslanted palpebral fissure, Seizure, Hypertonia, Myoclonus, F... ORPHA:284339
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Cerebral cortical atrophy, Microcephaly OMIM:277400
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Cryptococcosis
Abnormal retinal morphology, Hydrocephalus, Vitritis, Abnormal optic nerve morphology, Abnormal c... ORPHA:1546
Baller-Gerold Syndrome
Optic nerve hypoplasia, Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Polymic... OMIM:218600
Short-Rib Thoracic Dysplasia 12
Neonatal death, Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Mucopolysaccharidosis Type 1
Retinopathy, Hydrocephalus, Optic atrophy ORPHA:579
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Megalencephaly, Thick corpus callosum, Cerebral cortical atrophy, Ve... OMIM:617011
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Microcephaly ORPHA:280
Raine Syndrome
Neonatal death, Hydrocephalus, Cerebral calcification, Microcephaly OMIM:259775
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Rod-cone dystrophy OMIM:616084
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Lateral Meningocele Syndrome
Hydrocephalus, Meningocele OMIM:130720
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Mowat-Wilson Syndrome
Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal ganglia, Hypoplasia of... OMIM:235730
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly, Calcification of falx cerebri ORPHA:77301
Pediatric-Onset Graves Disease
Tremor, Failure to thrive, Hyperkinetic movements, Abnormal eyelid morphology ORPHA:525731
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Coloboma, Lateral ventricle dilatation, Neonatal death OMIM:619534
Fraser Syndrome 3
Hydrocephalus, Stillbirth OMIM:617667
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Mirage Syndrome
Hydrocephalus OMIM:617053
Aymé-Gripp Syndrome
Hydrocephalus, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly ORPHA:1272
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Doors Syndrome
Epicanthus, Bilateral tonic-clonic seizure, Abnormal fingernail morphology, Bilateral ptosis, Low... ORPHA:79500
Isotretinoin-Like Syndrome
Hydrocephalus, Microcephaly ORPHA:2306
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Dextrocardia
Hydrocephalus ORPHA:1666
Monosomy 22Q13.3
Agenesis of corpus callosum ORPHA:48652
Simpson-Golabi-Behmel Syndrome
Agenesis of corpus callosum, Dandy-Walker malformation ORPHA:373
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Meckel Syndrome
Encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Aplasia/Hypoplasia of the corpus callosu... ORPHA:564
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Microcephaly OMIM:182212
Otopalatodigital Syndrome Type 2
Encephalocele, Cerebellar hypoplasia, Myelomeningocele, Hydrocephalus ORPHA:90652
7Q11.23 Microduplication Syndrome
Cerebellar hypoplasia, Hydrocephalus, Simplified gyral pattern, Ventriculomegaly ORPHA:96121
Cardiofaciocutaneous Syndrome
Hydrocephalus, Cerebral cortical atrophy ORPHA:1340
Hurler Syndrome
Abnormal nerve conduction velocity, Hydrocephalus, Retinopathy ORPHA:93473
Dubowitz Syndrome
Microcephaly, Hydrocephalus, Spina bifida occulta, Aplasia/Hypoplasia of the corpus callosum ORPHA:235
Medulloblastoma
Hydrocephalus ORPHA:616
Focal Dermal Hypoplasia
Microcephaly, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of corpus callosum OMIM:305600
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Megalencephaly, Diffuse white matter abnormalities, Thick corpus cal... ORPHA:457359
1P36 Deletion Syndrome
Agenesis of corpus callosum, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly ORPHA:1606
Mend Syndrome
Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the corpus callosum ORPHA:401973
Mucopolysaccharidosis, Type Vii
Hydrocephalus OMIM:253220
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Rubinstein-Taybi Syndrome 1
Spina bifida, Microcephaly, Hyperintensity of cerebral white matter on MRI, Spina bifida occulta,... OMIM:180849
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cere... ORPHA:2273
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus callosum, Simplified g... OMIM:220111
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Basal Cell Nevus Syndrome 1
Calcification of falx cerebri, Hydrocephalus, Spina bifida OMIM:109400
Mucopolysaccharidosis Type 3
Ventriculomegaly, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Retin... ORPHA:581
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus, Optic atrophy OMIM:101800
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Lateral ventricle dilatation, Retinal coloboma, Agenesis of corpus callosu... ORPHA:261537
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Optic nerve compression ORPHA:91350
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ventriculomegaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:93271
Lead Poisoning
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:264090
Degcags Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly OMIM:619488
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Hydrocephalus, Optic nerve compression ORPHA:667
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy ORPHA:505248
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
H Syndrome
Hydrocephalus ORPHA:168569
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Ventriculomegaly, Microcephaly ORPHA:2462
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia OMIM:619321
Peters-Plus Syndrome
Microcephaly, Hydrocephalus, Cerebral atrophy, Agenesis of corpus callosum, Ventriculomegaly OMIM:261540
Kabuki Syndrome
Hydrocephalus, Cerebral cortical atrophy, Ventriculomegaly, Microcephaly ORPHA:2322
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Cerebellar hypoplasia, Microcephaly ORPHA:163979
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Ventriculomegaly OMIM:618188
Fanconi Anemia, Complementation Group L
Hydrocephalus, Cerebellar hypoplasia OMIM:614083
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Abnormal corpu... ORPHA:3455
Coccidioidomycosis
Abnormal retinal morphology, CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Hypogl... ORPHA:228123
Fetal Akinesia Deformation Sequence 1
Absent septum pellucidum, Hydrocephalus, Stillbirth, Cerebellar hypoplasia, Cavum septum pellucidum OMIM:208150
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Fontaine Progeroid Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Periventricular heterotopia, Hydrocephalus, Gray matt... OMIM:612289
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Coffin-Siris Syndrome 1
Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Spina b... OMIM:135900
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta ORPHA:2369
Mend Syndrome
Hydrocephalus, Macular hypoplasia, Dandy-Walker malformation OMIM:300960
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:312870
Lymphangioleiomyomatosis
Retinal hamartoma, Hydrocephalus, Optic atrophy ORPHA:538
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hydrocephalus, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:2072
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Microcephaly ORPHA:261337
Mowat-Wilson Syndrome
Focal cortical dysplasia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microcepha... ORPHA:2152
Gaucher Disease
Hydrocephalus, Abnormal macular morphology, Cherry red spot of the macula, Retinopathy, Ventricul... ORPHA:355
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy ORPHA:309282
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Fraser Syndrome 1
Encephalocele, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Hydrocephalus OMIM:219000
Cockayne Syndrome A
Microcephaly, Basal ganglia calcification, Cerebral atrophy, Normal pressure hydrocephalus, Ventr... OMIM:216400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hydrocephalus, Stillbirth ORPHA:95699
Cockayne Syndrome B
Microcephaly, Basal ganglia calcification, Cerebral atrophy, Normal pressure hydrocephalus, Subco... OMIM:133540
Fanconi Anemia
Hydrocephalus, Ventriculomegaly, Spina bifida, Microcephaly ORPHA:84
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Schizencephaly, Hydrocephalus, Porencephalic cyst, Cortical dysplasia, Leukoencephalopathy, Ische... OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum OMIM:164210
Hajdu-Cheney Syndrome
Hydrocephalus ORPHA:955
22Q11.2 Deletion Syndrome
Spina bifida, Microcephaly, Hydrocephalus, Meningocele, Occipital myelomeningocele ORPHA:567
Tetrasomy 9P
Hydrocephalus, Lissencephaly, Pachygyria, Polymicrogyria, Dandy-Walker malformation ORPHA:3310
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hydrocephalus, Decreased CSF 5-methyltetrahydrofolate concentration, Ventriculomegaly, Microcephaly OMIM:619475
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Hydrocephalus, Chorioretinal coloboma ORPHA:636
Costello Syndrome
Hydrocephalus, Ventriculomegaly, Cerebral atrophy OMIM:218040
Microphthalmia With Limb Anomalies
Hydrocephalus, Optic atrophy ORPHA:1106
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Secondary microcephaly, Abnormal corpus callosum morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Secondary microcephaly, Abnormal corpus callosum morphology ORPHA:353277
Townes-Brocks Syndrome
Agenesis of corpus callosum ORPHA:857
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Yunis-Varon Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the frontal lobes, Hypoplasia of the co... OMIM:216340
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Peters Plus Syndrome
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spina bifida occulta, Cer... ORPHA:709
Tuberous Sclerosis Complex
Cortical tubers, Cortical dysplasia, Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Hypoplasia of the corpus callosum ORPHA:363700
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Osteogenesis Imperfecta
Hydrocephalus, Noncommunicating hydrocephalus, Ventriculomegaly ORPHA:666
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Microcephaly ORPHA:322
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Coffin-Siris Syndrome 12
Hippocampal atrophy, Noncommunicating hydrocephalus, Microcephaly OMIM:619325
Mucopolysaccharidosis Type 2
Communicating hydrocephalus ORPHA:580
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly, Microcephaly OMIM:107480
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Loeys-Dietz Syndrome 2
Hydrocephalus OMIM:610168
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Frontal encephalocele, Stillbirth, Microcephaly OMIM:268300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Eml1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Eml1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A trans-eQTL network regulates osteoclast multinucleation and bone mass. eLife (June 2020) Eml1em1(IMPC)Wtsi Eml1EM1 PMC7351491
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Eml1em1(IMPC)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Eml1em1(IMPC)Wtsi PMC6671969

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Eml1tm48535(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Eml1em1(IMPC)Wtsi Deletion Mice

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