Gene Summary

Name:
neurogenic differentiation 2
Synonyms:
Ndrf,  bHLHa1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal locomotor behavior Neurod2em1(IMPC)Hmgu HOM Early adult 2.58×10-06
hyperactivity Neurod2em1(IMPC)Hmgu HET   Early adult 6.35×10-05
short tibia Neurod2em1(IMPC)Hmgu HOM Early adult 2.17×10-05
abnormal behavior Neurod2em1(IMPC)Hmgu HOM Early adult 6.04×10-07
increased grip strength Neurod2em1(IMPC)Hmgu HOM   Early adult 9.53×10-05
decreased startle reflex Neurod2em1(IMPC)Hmgu HOM Early adult 5.37×10-10
decreased circulating calcium level Neurod2em1(IMPC)Hmgu HOM   Early adult 1.34×10-06
decreased vertical activity Neurod2em1(IMPC)Hmgu HOM Early adult 2.80×10-05
decreased food intake Neurod2em1(IMPC)Hmgu HET Early adult 4.07×10-05
increased anxiety-related response Neurod2em1(IMPC)Hmgu HOM Early adult 5.48×10-06
decreased prepulse inhibition Neurod2em1(IMPC)Hmgu HOM Early adult 2.96×10-06
decreased food intake Neurod2em1(IMPC)Hmgu HOM Early adult 1.41×10-09
increased thigmotaxis Neurod2em1(IMPC)Hmgu HOM Early adult 6.04×10-07
increased exploration in new environment Neurod2em1(IMPC)Hmgu HET   Early adult 3.25×10-05
decreased respiratory quotient Neurod2em1(IMPC)Hmgu HOM Early adult 8.73×10-17
increased exploration in new environment Neurod2em1(IMPC)Hmgu HOM Early adult 8.40×10-14
abnormal coat appearance Neurod2em1(IMPC)Hmgu HOM Early adult 7.71×10-05
hypoactivity Neurod2em1(IMPC)Hmgu HOM   Early adult 1.02×10-06
hyperactivity Neurod2em1(IMPC)Hmgu HOM   Early adult 4.37×10-30

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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.

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

Human diseases caused by Neurod2 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 Neurod2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, In... ORPHA:1934
Developmental And Epileptic Encephalopathy 72
Seizure, Hyperkinetic movements OMIM:618374

The table below shows human diseases predicted to be associated to Neurod2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure ORPHA:22
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Seizure, Tremor, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Ataxia, Sensory ataxia OMIM:256860
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Spastic Ataxia With Congenital Miosis
Seizure, Ataxia, Spastic ataxia, Hemiplegia/hemiparesis ORPHA:1182
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Intellectual Developmental Disorder, Autosomal Recessive 53
Seizure, Ataxia, Intrauterine growth retardation, Cerebellar hypoplasia OMIM:616917
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, Ata... OMIM:617831
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Tremor OMIM:615127
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:616056
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Tetraplegia, Episodic hem... OMIM:104290
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Phosphoserine Phosphatase Deficiency
Seizure, Hypertonia, Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Spastic tetraplegia, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Visually-induced seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Cerebellar atrophy, Growth delay, Seizure, Ataxia, Spasticity, Limb ataxia, Gait a... OMIM:614322
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... OMIM:618587
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Seizures, Benign Familial Neonatal, Autosomal Recessive
Hypertonia, Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Small for gestational age, Focal impaired awareness seizure, Spee... OMIM:245570
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Short stature, Dysmetria, Progressive gait ataxia,... ORPHA:284332
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... ORPHA:101010
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Short stature, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ata... OMIM:616291
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spasticity, Abnormal pons morphology, Babinski sign, Impaired vibration sensation in ... ORPHA:171622
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Stereotypy OMIM:617787
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paresthesia, Bilateral tonic-clonic seizure, Choreoathetosis, Paroxysmal dyskinesia, Episodic ata... ORPHA:53583
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus, Episo... OMIM:618924
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Stereotypy OMIM:616341
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Limb myoclonus, Bilateral tonic-clonic seizure, Focal clonic seizure,... ORPHA:306
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Tremor OMIM:616187
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral t... OMIM:254770
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Spinocerebellar Ataxia Type 5
Slurred speech, Cerebellar atrophy, Incoordination, Gait disturbance ORPHA:98766
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617133
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:611726
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
N-Acetylaspartate Deficiency
Seizure, Decreased body weight, Truncal ataxia, Stereotypy OMIM:614063
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Chorea, Paroxysmal dyskinesia, Generalized-onset seizure, General... ORPHA:79137
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Cerebellar ... ORPHA:94122
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Paroxysmal dyskinesia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Continuous Spikes And Waves During Sleep
Clumsiness, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Fo... ORPHA:725
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:117210
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Failure to thrive, Spasticity, Bilateral tonic-clonic seizure OMIM:616281
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Autosomal Dominant Spastic Paraplegia Type 6
Postural tremor, Babinski sign, Bilateral tonic-clonic seizure, Lower limb spasticity, Impaired v... ORPHA:100988
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Seizure, Cerebellar vermis hypoplasia,... OMIM:618876
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar atrophy, Truncal ataxia OMIM:615268
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Immunodeficiency 8
Hyperactivity OMIM:615401
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Tremor, Ataxia, Generalized myoclonic sei... OMIM:617836
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Failure to thrive in infancy, Bilateral tonic-clonic seizure, Myoclonus, Ataxia, S... OMIM:619065
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... ORPHA:36387
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Seizure, Ataxia, Unsteady gait, Gait ataxia OMIM:615705
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... ORPHA:276193
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Short stature, Dysmetria, Intention tremor, Ataxia, Spasticity, G... OMIM:608029
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Short stature, Ataxia, Postnatal growth retardation, Cerebellar hypoplasia OMIM:616113
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613608
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... OMIM:619317
Alpers-Huttenlocher Syndrome
Progressive spasticity, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Paraparesis, ... ORPHA:726
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Seizure, Hyperactivity, Tremor, Inabil... OMIM:618090
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized ... ORPHA:139426
Spinocerebellar Ataxia 48
Babinski sign, Cachexia, Bilateral tonic-clonic seizure, Dysmetria, Chorea, Tremor, Ataxia, Parki... OMIM:618093
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618917
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Choreoathetosis, Failure to thrive, Myoclonus, Status epilepticus OMIM:609056
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:615369
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Ceroid Lipofuscinosis, Neuronal, 11
Seizure, Ataxia, Generalized myoclonic seizure, Cerebellar atrophy OMIM:614706
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Autosomal Dominant Epilepsy With Auditory Features
Bilateral tonic-clonic seizure, Nocturnal seizures, Focal autonomic seizure, Bilateral tonic-clon... ORPHA:101046
Autism
Seizure, Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Seizure, Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Seizure, Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Seizure, Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Stereotypy OMIM:608636
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:254800
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Seizure, Ataxia, Parkinsonism, Abnormal ... OMIM:162350
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Seizu... OMIM:615362
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Intellectual Developmental Disorder, X-Linked 72
Seizure, Stereotypy OMIM:300271
Dystonia With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Torticollis, Craniofacial dystonia, Progressive cerebellar ataxia OMIM:611694
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Seizure, Ataxia, Abnormal pyramidal sign, Atrophy of the dent... OMIM:125370
Isolated Focal Cortical Dysplasia
Infantile spasms, Nocturnal seizures, Focal impaired awareness seizure, Hemiparesis, Seizure, Bil... ORPHA:65683
Polymicrogyria, Bilateral Perisylvian, X-Linked
Pseudobulbar paralysis, Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Nocturnal seizures OMIM:117100
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Hemiparesis, Focal-onset ... ORPHA:101071
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Myoclonus, Familial, 1
Ataxia, Myoclonus, Falls, Frequent falls OMIM:614937
Ceroid Lipofuscinosis, Neuronal, 8
Seizure, Ataxia, Myoclonus, Cerebellar atrophy OMIM:600143
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia OMIM:617770
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Po... ORPHA:86909
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral tonic-clonic seizure ... OMIM:607682
Spinocerebellar Ataxia 14
Dysphagia, Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attent... OMIM:605361
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Lower limb spasticity, Bilateral tonic-clonic seizure OMIM:619639
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Seizure, Slurred speech, A... OMIM:300423
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... OMIM:616645
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:600669
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Seizure, Ataxia, Tremor, Stereotypy OMIM:617862
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Babinski sign, Cerebellar atrophy, Gait ataxia, Short stature OMIM:616192
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Seizure, Ataxia, Apraxia ORPHA:85338
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Developmental And Epileptic Encephalopathy 97
Seizure, Stereotypical hand wringing, Epileptic spasm, Tremor OMIM:619561
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Myoclonus, Seizure, Ataxia, Hypertonia OMIM:612736
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Seizure, Tremor, Ataxia, Hemiplegia OMIM:141500
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Atonic seizure, Apraxia, Sp... OMIM:617810
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Familial Focal Epilepsy With Variable Foci
Paresthesia, Bilateral tonic-clonic seizure, Nocturnal seizures, Infantile spasms, Deja vu aura, ... ORPHA:98820
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Cerebellar hypoplasia, Spasticity, Uns... OMIM:615768
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Atonic seizure, Focal-onset seizure, Generalized myocl... ORPHA:2382
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Seizure, Failure to thrive, Spasticity, Stereotypy OMIM:617393
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Progressive extrapyramidal movement disorder, Bilateral tonic-clonic seizure, Chorea, ... ORPHA:382
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Seizure, Ataxia, Generalized myoclonic seizure, Myoclonus OMIM:208700
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Bilateral tonic-clonic seizure, Nocturnal seizure... ORPHA:98818
Mitochondrial Complex I Deficiency, Nuclear Type 12
Generalized myoclonic seizure, Cerebellar atrophy, Abnormality of extrapyramidal motor function, ... OMIM:301020
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Falls, Areflexia of lower limbs, Hypocalcemia OMIM:615883
Developmental And Epileptic Encephalopathy 37
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Seizure, Hyperkinetic... OMIM:616981
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Focal motor status epilepticus, Paroxysmal dyskinesia, Chorea, Stereotypy, Sei... OMIM:619150
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset, Speech apraxia, Focal-onset seizure ORPHA:163721
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Sm... ORPHA:289266
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Short stature, Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasi... OMIM:614831
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Tr... OMIM:610245
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Short stature, Dysmetria, Intention tremor, Seizure, Dysdiadochokinesis, Trun... OMIM:224050
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Developmental And Epileptic Encephalopathy 58
Seizure, Spastic diplegia, Status epilepticus, Stereotypy OMIM:617830
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Febrile seizure (within the age range of 3 months to 6 years), Cerebellar atrophy, Frequent falls... ORPHA:512260
Autosomal Dominant Non-Syndromic Intellectual Disability
Typical absence seizure, Bilateral tonic-clonic seizure, Chorea, Focal emotional seizure with lau... ORPHA:178469
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Short stature, Seizure, Oculomotor apraxia, Inability to walk, Ataxia, Cerebellar hypoplasia, Uns... OMIM:618273
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618873
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Seizure, Ataxia, Stereotypy OMIM:618709
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Spastic Ataxia 5, Autosomal Recessive
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxia, Ataxia,... OMIM:614487
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Brachydactyly DECIPHER:8
Cortical Malformations, Occipital
Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607631
Microcephaly, Seizures, And Developmental Delay
Seizure, Hyperactivity, Cerebellar atrophy, Ataxia OMIM:613402
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure... ORPHA:208441
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor aprax... OMIM:617633
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Foxg1 Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Choreoathetosis, Myoclonus, Stereotypy, Status ... ORPHA:561854
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Convulsive status epilepticus, Stereotypical hand wringing, Focal-onset seizure OMIM:618760
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Fasciculations, Sp... OMIM:611302
Bilateral Generalized Polymicrogyria
Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Paroxysmal dyskinesia,... ORPHA:208447
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Dysmetria, Myoclonus, Seizure, Ataxia, Dysdiadochokinesis OMIM:256731
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... OMIM:610357
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive 2
Short stature, Dysmetria, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unst... OMIM:213200
Developmental And Epileptic Encephalopathy 32
Seizure, Ataxia, Myoclonus, Tremor OMIM:616366
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Bilateral tonic-clonic seizure, Frequent falls, Dysmetria, Extrapyramidal muscular... ORPHA:93952
Hyperprolinemia, Type I
Seizure, Ataxia, Status epilepticus, Stereotypy OMIM:239500
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Seizure, Cerebellar vermis atrophy, Inability to walk,... OMIM:619389
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Irritability, Hypocalcemia, Anxie... ORPHA:36913
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Tremor, Status epilept... ORPHA:330050
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Neurodegeneration With Brain Iron Accumulation
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spa... ORPHA:385
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... ORPHA:363549
Mitochondrial Complex I Deficiency, Nuclear Type 21
Babinski sign, Generalized non-motor (absence) seizure, Growth delay, Ataxia, Spasticity, Difficu... OMIM:618242
Pontocerebellar Hypoplasia, Type 14
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic tetraplegia, Hyperto... OMIM:619301
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic seizures, Diaphyseal sclerosis, Laryngeal dy... ORPHA:94089
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Apathy, Bradykinesia, Shuffling gait, Fall... ORPHA:412066
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Spinocerebellar Ataxia Type 26
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... ORPHA:101112
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... ORPHA:98811
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
Obesity, Hyperphagia, And Developmental Delay
Seizure, Obesity, Stereotypy OMIM:613886
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Tremor, Anxiety, Depression OMIM:159900
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Vitamin D-Dependent Rickets, Type 3
Genu varum, Bowing of the legs, Hypophosphatemia, Hypocalcemia, Flared metaphysis, Metaphyseal cu... OMIM:619073
Spinocerebellar Ataxia 28
Dystonia, Babinski sign, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... OMIM:610246
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor OMIM:302500
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Spastic tetraplegia, Stereotypy, Seizure, Clonic seizure, Hypertonia OMIM:615282
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:94090
Lissencephaly, X-Linked, 1
Seizure, Ataxia, Postnatal growth retardation, Spasticity OMIM:300067
Familial Infantile Myoclonic Epilepsy
Clumsiness, Limb myoclonus, Bilateral tonic-clonic seizure, Blepharospasm, Seizure, Ataxia, Bilat... ORPHA:352582
Rare Non-Syndromic Intellectual Disability
Seizure, Spasticity, Bilateral tonic-clonic seizure ORPHA:101685
Seizures, Benign Familial Infantile, 1
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:601764
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Cognitive impairment, Tremor, Ataxia, Anxiety, Depression, Memo... ORPHA:401901
Spinocerebellar Ataxia 4
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... OMIM:600223
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic hemiparesis, Spastic... OMIM:619616
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:607681
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Cerebellar atrophy, Short stature, Bilateral tonic-clonic seizure OMIM:608278
Spastic Paraplegia, Ataxia, And Mental Retardation
Dystonia, Babinski sign, Cerebellar atrophy, Knee clonus, Spastic gait, Lower limb spasticity, Im... OMIM:607565
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Dysd... OMIM:616204
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia ORPHA:284271
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Myoclonus, Bradykinesia, Seizure, Cerebellar verm... ORPHA:248111
Rapid-Onset Dystonia-Parkinsonism
Dysphagia, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, ... ORPHA:71517
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor apraxia, Ata... ORPHA:313772
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Behr Syndrome
Progressive spasticity, Gait disturbance, Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, A... OMIM:210000
Pontocerebellar Hypoplasia, Type 15
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Spastic tetraplegia, Hyperto... OMIM:619302
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Glycine Encephalopathy
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Seizure, Ataxia, Status epilepticus, Hyperkinetic movements, Gene... OMIM:271980
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Seizure, Ataxia, Tremor, Abnormal pyramidal sign OMIM:612016
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia OMIM:615217
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Dystonia 12
Dystonia, Dysphagia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depre... OMIM:128235
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Bilateral tonic-clonic seizure, Dysmetria, Seizure, Tremor, Status epilepticus, Oculomotor apraxi... ORPHA:529665
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Seizure, Stereotypical hand wringing, Spasticity, Failure to thrive ORPHA:500545
Ataxia-Oculomotor Apraxia 4
Dystonia, Cerebellar atrophy, Tetraplegia, Ataxia, Oculomotor apraxia OMIM:616267
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Bradykinesia, Seizure, Gait ataxia OMIM:143100
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Spa... OMIM:619338
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Spastic tetraplegia, Tremor, Status epilepticus, Spastic parapleg... OMIM:612164
Brain Small Vessel Disease 2
Hemiplegia, Spastic tetraplegia, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614483
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-onset seizure, Generalized non-... OMIM:619157
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:609306
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia OMIM:618387
Infantile Cerebellar-Retinal Degeneration
Athetosis, Bilateral tonic-clonic seizure, Failure to thrive, Ataxia, Focal-onset seizure, Decrea... OMIM:614559
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Short stature, Dysmetria, Tremor, Aplasia of the inferior half of the cerebel... OMIM:610185
Spastic Paraplegia 82, Autosomal Recessive
Babinski sign, Bilateral tonic-clonic seizure with generalized onset, Spasticity, Focal-onset sei... OMIM:618770
Pseudohypoparathyroidism Type 1C
Short 3rd metacarpal, Short 5th metacarpal, Hypocalcemic tetany, Hypocalcemic seizures, Calcinosi... ORPHA:79444
Epilepsy, Progressive Myoclonic, 6
Myoclonus, Seizure, Ataxia, Tremor, Difficulty walking, Atonic seizure, Generalized non-motor (ab... OMIM:614018
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Hyperactivity, Micrognathia, Clinodactyly OMIM:608747
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:617691
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Steppage gait, Seizure, Ataxia, Distal sensory impairment OMIM:607250
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:610743
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Bilateral tonic-clonic seiz... OMIM:619092
Phenylketonuria
Maternal hyperphenylalaninemia, Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Hype... OMIM:261600
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, Early onset absence seizures, Seizure, Status epilepticus, Atonic... ORPHA:3006
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Focal-onset se... OMIM:607745
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity OMIM:617916
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Typical absence seizure, Cerebellar dysplasia, Hypoplasia of the pons, Seizure, C... ORPHA:101070
Severe Canavan Disease
Babinski sign, Bilateral tonic-clonic seizure, Seizure, Decerebrate rigidity, Spasticity ORPHA:314911
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Abnorma... OMIM:618317
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Tapered finger, Impulsivity OMIM:616977
Leukodystrophy, Hypomyelinating, 6
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Short stature, Seizure, Tremor, Ataxia, ... OMIM:612438
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Clinodactyly of the 5th finger, Impulsivity ORPHA:100973
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Tibial bowing, Subperiosteal bone resorption, Hypocalcemic seizures, Hypophosphatemia... ORPHA:289157
Epilepsy, Familial Adult Myoclonic, 2
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Ataxia, Blepharospasm OMIM:607876
Huntington Disease-Like 2
Dystonia, Dementia, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression OMIM:606438
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Tremor, Ataxia, Hyperactivity, Frontal upsweep of hair OMIM:300983
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Positive Romb... OMIM:607136
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Bilateral tonic-clonic seizure, Lower limb spasticity, Seizure, Generalized myoclonic seizure, At... ORPHA:464282
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Paresthesia OMIM:615361
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:619000
Chromosome 3Q29 Deletion Syndrome
Tapered finger, Long fingers, Aggressive behavior, Hyperactivity, Anxiety, Clinodactyly of the 5t... OMIM:609425
Spinocerebellar Ataxia 5
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... OMIM:600224
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Cerebellar atrophy, Dysmetria, Seizure, Ataxia, Tremor, Tongue fasciculations OMIM:618170
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... ORPHA:352403
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:618856
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Infantile spasms, Bilateral tonic-clonic seizure, Focal tonic seizure, Cho... ORPHA:485350
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Oculomotor apraxia, A... ORPHA:208513
Sarcosinemia
Ataxia, Tetraparesis, Bilateral tonic-clonic seizure ORPHA:3129
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Bradykinesia, Resting tremor, Anxiety, Depression OMIM:605909
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Genu varum, Alopecia, Hypophosphatemia, Abnormality of the metaphysis, Genu val... ORPHA:93160
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Seizure, Hypertonia, Bilateral tonic-clonic seizure with generalized onset, Spastic tetraplegia OMIM:618730
Developmental And Epileptic Encephalopathy 90
Babinski sign, Limb hypertonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure,... OMIM:301058
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Ataxia-Telangiectasia-Like Disorder
Dystonia, Cerebellar atrophy, Short stature, Frequent falls, Dilated fourth ventricle, Dysmetria,... ORPHA:251347
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... ORPHA:3077
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hypocalcemic seizures, Small han... ORPHA:93324
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Long eyelashes, Hyperactivity, Thick eyebrow, Spars... OMIM:618362
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... OMIM:616719
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gai... OMIM:606183
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Chromosome Xq25 Duplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Hyperactivity, Thick eyebrow, Anxiety OMIM:300979
Autosomal Dominant Hypocalcemia
Writer's cramp, Alopecia, Fatigable weakness, Hypomagnesemia, Emotional lability, Hypocalcemia, A... ORPHA:428
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Bilateral... OMIM:618559
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Hyperactivity, Ataxia, Hypertriglyceridemia, Mental deterioration OMIM:615924
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Frequent falls... ORPHA:2590
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Seizure, Ataxia, Spasticity OMIM:618088
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Babinski sign, Cerebellar atrophy, Dysmetria, Lower limb spasticity, In... ORPHA:98
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Behavioral Variant Of Frontotemporal Dementia
Bilateral tonic-clonic seizure, Abnormality of extrapyramidal motor function, Fasciculations, Ste... ORPHA:275864
Autosomal Recessive Non-Syndromic Intellectual Disability
Chorea, Stereotypy, Seizure, Generalized-onset seizure, Spasticity, Focal-onset seizure, Epilepti... ORPHA:88616
Spinocerebellar Ataxia 10
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Seizure, Progressive... OMIM:603516
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... ORPHA:98772
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Intention tremor, Seizure, Clonic seizure, Status epilepticus, Bilateral tonic-clonic ... OMIM:610539
Xq25 Microduplication Syndrome
Hyperactivity, Highly arched eyebrow, Anxiety, Sparse eyebrow ORPHA:521258
Autism, Susceptibility To, X-Linked 2
Seizure, Stereotypy OMIM:300495
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Episodic Ataxia Type 6
Cerebellar atrophy, Seizure, Ataxia, Slurred speech, Hemiplegia ORPHA:209967
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Poor motor coordination, Short stature, Dilated fourth ventricle, Dysmetria, ... ORPHA:1170
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Tonic seizure, Infantile spasms, Focal impaired awareness seizure... OMIM:619428
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Gait ataxia, Bilateral tonic-clonic seizure ORPHA:488635
Mitochondrial Myopathy With Lactic Acidosis
Dystonia, Growth delay, Dysmetria, Focal impaired awareness seizure, Hemiparesis, Seizure, Postna... OMIM:251950
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Paresthesia, Focal hemifacial clon... ORPHA:1945
Spinocerebellar Ataxia 34
Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... OMIM:133190
Pseudohypoparathyroidism Type 1A
Short 3rd metacarpal, Short 5th metacarpal, Hypocalcemic tetany, Hypocalcemic seizures, Calcinosi... ORPHA:79443
Spinocerebellar Ataxia 15
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Usmani-Riazuddin Syndrome, Autosomal Dominant
2-3 toe syndactyly, Short finger, Self-injurious behavior, Aggressive behavior, Pes planus, Hyper... OMIM:619467
Spinocerebellar Ataxia Type 17
Involuntary movements, Gait disturbance, Dystonia, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... ORPHA:98759
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hirsutism, Talipes equinovarus, Small hand, Hyperactivity, Hip dislocation, Short foot OMIM:300434
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Polyphagia, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait, Hypo... ORPHA:411515
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Upper limb spasticity, Bilateral tonic-clonic seizure, Stereotypy, Seizure, Tremor, Hyperkinetic ... ORPHA:457240
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Hyperactivity, Hirsutism, Talipes equinovarus ORPHA:85288
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Oncogenic Osteomalacia
Gait disturbance, Abnormal foot morphology, Tibial bowing, Abnormality of femur morphology, Hypop... ORPHA:352540
Spinocerebellar Ataxia, Autosomal Recessive 11
Ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia OMIM:614229
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia, Generalized non-motor (absence) seizure OMIM:616421
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Short stature, Frequent falls, Torticollis, Dysmetria,... ORPHA:397946
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Spinocerebellar Ataxia 42
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Progressive Familial Intrahepatic Cholestasis
Cognitive impairment, Hypocalcemia ORPHA:172
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... OMIM:601376
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Rasmussen Subacute Encephalitis
Involuntary movements, Generalized convulsive status epilepticus, Focal impaired awareness seizur... ORPHA:1929
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Tremor, Hyperactivity, Ataxia, Transient hyperphenylalaninemia OMIM:612716
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Truncal ataxia, Bilateral tonic-clonic seizure ORPHA:369840
Spinocerebellar Ataxia Type 10
Babinski sign, Cerebellar atrophy, Gait imbalance, Kinetic tremor, Dysmetria, Focal impaired awar... ORPHA:98761
Cln5 Disease
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Dysmetria, Seizure, Tremor, Hypera... ORPHA:228360
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Unilateral Focal Polymicrogyria
Spastic hemiparesis, Focal impaired awareness seizure, Focal motor seizure, Hemiparesis, Seizure,... ORPHA:268947
Late Infantile Neuronal Ceroid Lipofuscinosis
Typical absence seizure, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, ... ORPHA:168491
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Synophrys OMIM:615541
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Pseudobulbar paralysis, Rigidity, Bilateral tonic-clonic seizure, Spastic ataxia, Hemiparesis, Sp... ORPHA:199354
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Talipes equinovarus, Tapered finger, Aggressive behavior, Long eyelashes, ... OMIM:617773
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Ataxia, Metaphyseal widening, Hypocalcemia OMIM:618476
Pontocerebellar Hypoplasia, Type 11
Poor coordination, Stereotypy, Seizure, Ataxia, Decreased body weight, Spasticity, Limb ataxia OMIM:617695
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Opisthotonus, Bilateral tonic-clonic seizure, Tonic seizure, Choreoathetosis, My... OMIM:619580
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Fasciculations, Intention tremor, Progres... ORPHA:284289
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Infantile spasms, Impaired pain sensation, Tongue thrustin... ORPHA:3095
Mental Retardation, Autosomal Recessive 41
Seizure, Stereotypy OMIM:615637
Spinocerebellar Ataxia 27
Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... OMIM:609307
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Myoclonic seizure, Foc... ORPHA:363558
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the radius, Sandal gap, Hypocalcemia, ... OMIM:607143
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Cerebellar atrophy, Head titubation, Truncal ataxia, Spasticity, Abnormal pyramidal sig... OMIM:617560
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Cognitive impairment, Polyphagia, Memory impairment ORPHA:369873
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Hyperphosphatemia, Brachydactyly, Hypocalcemia OMIM:603233
Oculocerebrodental Syndrome
Hypercalcemia, Metaphyseal dysplasia, Abnormality of the frontal hairline, Short 5th finger, Hypo... ORPHA:557003
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Baker-Gordon Syndrome
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements OMIM:618218
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Gand Syndrome
Long fingers, Inappropriate laughter, Hyperactivity, Long toe, Sparse hair OMIM:615074
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Hsd10 Disease
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Seizure, Tremor, Ataxia, Postnatal growth... ORPHA:391417
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Alpha-Heavy Chain Disease
Alopecia, Hypocalcemia ORPHA:100025
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Paroxysmal bursts of laughter, Polyphagia, Self-injurious behavior, Sandal... ORPHA:228402
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... ORPHA:98764
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hirsutism, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Alazami-Yuan Syndrome
Highly arched eyebrow, Hirsutism, Low anterior hairline, Long eyelashes, Hyperactivity, Thick eye... OMIM:617126
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Olivopontoc... OMIM:615157
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, 2-3 toe syndactyly, Micrognathia, Tapered finger, Aggressive behavior, Self-mutila... ORPHA:476126
Albers-Schönberg Osteopetrosis
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Genu valgum, Short distal pha... ORPHA:53
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Spastic dysarthria, Stereotypy, Seizure, Spasticity, Overweight, Progressive spast... ORPHA:280763
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Fascicula... OMIM:618598
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Babinski sign, Cerebellar atrophy, Ataxia, Progressive spastic paraplegia OMIM:612020
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Bilateral tonic-clonic seizure, Poor motor coordination, Stereotypy... ORPHA:79264
Cholera
Lethargy, Hyponatremia, Palmoplantar cutis laxa, Hypokalemia, Irritability, Hypocalcemia, Abnorma... ORPHA:173
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Clumsiness, Bilateral tonic-clonic seizure, Frequent falls, Focal impaired awareness seizure, Spa... ORPHA:1947
Spinocerebellar Ataxia 13
Cerebellar atrophy, Limb dysmetria, Progressive cerebellar ataxia, Abnormal pyramidal sign, Limb ... OMIM:605259
Slc35A2-Cdg
Metatarsus adductus, Increased circulating thyroglobulin level, Talipes equinovarus, Aplasia/hypo... ORPHA:356961
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Dysphagia, Hypernatremia, Elevated circulating creatine kinase concen... ORPHA:94093
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Fibular bowing, Subperiosteal bone resorption, Bowing of the legs, Hypocalcemic se... OMIM:277440
2P21 Microdeletion Syndrome
Long eyelashes, Hypocalcemia ORPHA:163693
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Hypocalcemic seizures, Small hand, Short foot, Short palm, Hypocalcemia, Hyperphosp... OMIM:241410
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Involuntary movements, Babinski sign, Clonus, Bilateral tonic-clonic seizure, Infantile spasms, F... ORPHA:480864
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Intellectual Developmental Disorder, X-Linked 30