Gene: Snap25 MGI:98331

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

synaptosomal-associated protein 25

Synonyms:

SNAP-25, Bdr, sp, GENA 70

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Snap25 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Snap25 (2 diseases)
Human diseases predicted to be associated with Snap25 (1612 diseases)

The table below shows human diseases associated to Snap25 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Myasthenic Syndrome, Congenital, 18		Difficulty walking, Fatigable weakness, Ataxia	OMIM:616330
Presynaptic Congenital Myasthenic Syndromes		Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Intermittent episode...	ORPHA:98914

The table below shows human diseases predicted to be associated to Snap25 by phenotypic similarity.

Disease	Matching phenotypes	Source
Specific Language Impairment 2	Deficit in phonologic short-term memory	OMIM:606712
Specific Language Impairment 1	Deficit in phonologic short-term memory	OMIM:606711
7q11.23 duplication syndrome	Short attention span	DECIPHER:43
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity...	ORPHA:71529
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant	Dementia, Cognitive impairment	OMIM:618564
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Episodic hyperhidrosis, Maturity-onset diabetes of the young, Hyperins...	ORPHA:324575
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity	ORPHA:140941
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul...	ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ...	ORPHA:293964
Obesity And Hypopigmentation	Hyperinsulinemia, Obesity, Hepatic steatosis, Overgrowth, Polyphagia	OMIM:620195
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Episodic hyperhidrosis, Hyperinsu...	ORPHA:276575
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia...	OMIM:617885
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi...	OMIM:608600
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Episodic hyperhidrosis, Hyperinsu...	ORPHA:276580
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Loss ...	ORPHA:280356
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosi...	OMIM:612526
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Increased serum serotonin, Inflexible adherence to routines, Seizure, Bilat...	OMIM:608636
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia	ORPHA:329249
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Episodic hyperhidrosis, Recurrent hypoglycemia, Hypoketotic...	ORPHA:276556
Type 2 Diabetes Mellitus	Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus	OMIM:125853
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie...	ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi...	OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Developmental And Epileptic Encephalopathy 15	Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Irritability, Tonic ...	OMIM:615006
Atypical Juvenile Parkinsonism	Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina...	ORPHA:391411
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Spasticity, Seizure, Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity	ORPHA:356996
Multiple Symmetric Lipomatosis	Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology	ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ...	ORPHA:79299
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Spasticity, Seizure, Gait ataxia, Rigidity, Clumsiness, Hyperactivity, Dystonia, Dysphagia, Statu...	OMIM:620448
Body Mass Index Quantitative Trait Locus 20	Tall stature, Hyperinsulinemia, Obesity, Polyphagia	OMIM:618406
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i...	ORPHA:79085
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parki...	OMIM:619911
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L...	ORPHA:240094
Parkinson Disease 17	Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ...	OMIM:615980
Segawa Syndrome, Autosomal Recessive	Hypokinesia, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidi...	OMIM:605407
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert...	OMIM:613877
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Type 1 Diabetes Mellitus	Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ...	OMIM:222100
Lipase Deficiency, Combined	Pancreatitis, Type II diabetes mellitus, Lipodystrophy, Hypertriglyceridemia	OMIM:246650
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder	ORPHA:369873
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive	OMIM:601410
Epilepsy, Nocturnal Frontal Lobe, 2	Aggressive behavior, Depression, Status epilepticus, Bilateral tonic-clonic seizure	OMIM:603204
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur...	OMIM:619970
Developmental And Epileptic Encephalopathy 37	Spasticity, Hypokinesia, Chorea, Cogwheel rigidity, Myoclonus, Focal hemiclonic seizure, Rigidity...	OMIM:616981
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Inability to walk, Aggressive behavior, Attention deficit hyperactivity disorder, Bilateral tonic...	OMIM:619639
Cortisone Reductase Deficiency 2	Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te...	OMIM:614662
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Hypokinesia, Seizure, Akinesia, Myoclonus, Tremor, Rigidity, Babi...	OMIM:606693
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a...	ORPHA:435660
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Vertigo, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated...	ORPHA:171706
Developmental And Epileptic Encephalopathy 43	Myoclonic seizure, Atonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hy...	OMIM:617113
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a...	OMIM:151660
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia	OMIM:208700
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl...	ORPHA:436182
Congenital Myasthenic Syndromes With Glycosylation Defect	Generalized weakness of limb muscles, Abnormal peripheral nervous system synaptic transmission, T...	ORPHA:353327
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly...	OMIM:615238
Myasthenic Syndrome, Congenital, 18	Difficulty walking, Fatigable weakness, Ataxia	OMIM:616330
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Respiratory insufficiency, Limb muscle weakness, Fatigable weakness, Myopa...	OMIM:603034
Intellectual Developmental Disorder, Autosomal Recessive 37	Spasticity, Seizure, Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Epilepsy, Progressive Myoclonic, 12	Depression, Difficulty walking, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder, B...	OMIM:619191
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor	OMIM:611092
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut...	ORPHA:435651
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Decreased circulating free T4 concentration, Attention deficit hyperactiv...	OMIM:301033
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h...	ORPHA:35878
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero...	OMIM:619855
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal pyramidal sign, Upper motor neuron ...	ORPHA:95434
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu...	ORPHA:363400
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight, Maturity-onset diabetes of the young	OMIM:613375
Insulinomatosis And Diabetes Mellitus	Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h...	OMIM:147630
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure	OMIM:612437
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:616187
Developmental And Epileptic Encephalopathy 9	Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca...	OMIM:300088
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Spinocerebellar Ataxia Type 27	Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait disturbance, Tr...	ORPHA:98764
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Limb muscle weakness, Generalized hypotonia due to defect at the neuromuscular junction, Fatigabl...	OMIM:605809
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Myoclonic seizure, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism...	OMIM:162350
Myasthenic Syndrome, Congenital, 6, Presynaptic	Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Type 2 mus...	OMIM:254210
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture	OMIM:618856
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s...	ORPHA:528
Developmental And Epileptic Encephalopathy 31A	Self-injurious behavior, Myoclonic seizure, Difficulty walking, Inability to walk, Epileptic spas...	OMIM:616346
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia	ORPHA:2589
Stxbp1-Related Encephalopathy	Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr...	ORPHA:599373
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress...	OMIM:614963
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L...	OMIM:608709
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ...	OMIM:618858
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph...	ORPHA:263455
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Respiratory insufficiency, Prolonged miniature endplate currents, Decreased miniature endplate po...	OMIM:616321
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait disturbance, Bilateral tonic-clonic seizure...	OMIM:616230
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficulty walking, Inability t...	ORPHA:2590
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Failure to thrive, Hypoglycemia	OMIM:606528
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon...	OMIM:617872
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe...	OMIM:616329
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Aggressive behavior, Bilateral tonic-clonic seizure, Ataxia	OMIM:617709
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes of respiratory insu...	OMIM:601462
Spastic Paraplegia 62, Autosomal Recessive	Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clonus, Hoffmann sign, Babins...	OMIM:615681
Epilepsy, Familial Temporal Lobe, 1	Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar...	OMIM:600512
Spinocerebellar Ataxia Type 21	Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv...	ORPHA:98773
Lennox-Gastaut Syndrome	Falls, Myoclonus, Focal-onset seizure, Irritability, Aggressive behavior, Generalized tonic seizu...	ORPHA:2382
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Myoclonus-Dystonia Syndrome	Myoclonus, Limb myoclonus, Torticollis, Spinal myoclonus	ORPHA:36899
Fraxe Intellectual Disability	Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive...	ORPHA:100973
Epilepsy, Progressive Myoclonic, 9	Generalized myoclonic seizure, Gait ataxia, Myoclonus, Bilateral tonic-clonic seizure, Action myo...	OMIM:616540
Epilepsy, Progressive Myoclonic, 6	Ataxia, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, Tremor, Loss of a...	OMIM:614018
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	OMIM:159800
Epilepsy, Progressive Myoclonic, 11	Seizure, Myoclonus, Rigidity, Ataxia, Intention tremor	OMIM:618876
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia	ORPHA:22
Female Restricted Epilepsy With Intellectual Disability	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:101039
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Hyperbilirubinemia, ...	OMIM:609734
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra...	OMIM:607317
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Seizure, Pseudobulbar paralysis, Aggressive behavior, Bilateral t...	ORPHA:208441
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Bilateral coxa valga, Hearing impairment, Obesity, Limb dystonia, Tremor, Aggressive behavior, Hy...	OMIM:620270
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl...	OMIM:618587
Epilepsy, Familial Adult Myoclonic, 3	Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure	OMIM:613608
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal p...	OMIM:614561
Congenital Myopathy 9A	Tongue fasciculations, Obesity, Akinesia	OMIM:618822
Dentatorubral-Pallidoluysian Atrophy	Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Choreoathetosis	OMIM:125370
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:614480
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Emotional lability, Aggressive behavior, Bilateral tonic-clonic seizure, Motor stereotypy, Status...	OMIM:617171
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:620357
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Developmental And Epileptic Encephalopathy 24	Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range...	OMIM:615871
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Ataxia, Progressive extrapyramidal movement disorder, Generalized myoclo...	ORPHA:382
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Spasticity, Seizure, Generalized-onset seizure, Ankle clonus, Babinski sign, Hyperactivity, Spast...	OMIM:616657
Ceroid Lipofuscinosis, Neuronal, 8	Loss of ambulation, Myoclonus, Seizure, Ataxia	OMIM:600143
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo...	OMIM:615400
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu...	OMIM:240900
Manganese Poisoning	Decreased male libido, Postural tremor, Akinesia, Cogwheel rigidity, Decreased female libido, Abn...	ORPHA:306682
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Striatal Degeneration, Autosomal Dominant 1	Hypokinesia, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes...	OMIM:615812
Landau-Kleffner Syndrome	Depression, Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Generalized ...	ORPHA:98818
Developmental And Epileptic Encephalopathy 33	Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Aggressive behavior, Bilate...	OMIM:616409
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction	ORPHA:401901
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Spinocerebellar Ataxia Type 37	Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy...	ORPHA:363710
Polymyoclonus, Infantile	Myoclonus, Ataxia	OMIM:263550
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,...	ORPHA:79237
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Obesity, Decreased serum leptin	OMIM:614962
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,...	ORPHA:79262
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ...	OMIM:300717
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Seizure, Ataxia	OMIM:213000
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure	OMIM:615127
Dystonia 11, Myoclonic	Myoclonus, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors	OMIM:159900
Infantile Spasms Syndrome	Infantile spasms, Myoclonus	ORPHA:3451
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H...	OMIM:615381
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ...	OMIM:607682
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus, Seizure	OMIM:217200
Spinocerebellar Ataxia Type 12	Hypokinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abno...	ORPHA:98762
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Limb muscle weakness, Weakness of facial musculature, Type 2 muscle fiber atrophy, Decreased mini...	OMIM:608930
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Myoclonus, Abnormality of extrapyramidal motor function, Status epilepticus without prominent mot...	OMIM:204300
Spinal Muscular Atrophy, Type I	Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu...	OMIM:253300
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Neonatal death, ...	OMIM:611369
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ...	OMIM:615954
Developmental And Epileptic Encephalopathy 109	Spasticity, Myoclonic seizure, Typical absence seizure, Failure to thrive, Crouch gait, Myoclonus...	OMIM:620145
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat...	OMIM:619868
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Seizure, Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski s...	OMIM:615362
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel...	OMIM:618357
Benign Familial Infantile Epilepsy	Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a...	ORPHA:306
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Developmental And Epileptic Encephalopathy 40	Spasticity, Seizure, Myoclonus, Spastic tetraparesis, Small for gestational age, Choreoathetosis	OMIM:617065
Perioral Myoclonia With Absences	Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon...	ORPHA:139426
Developmental And Epileptic Encephalopathy 59	Self-injurious behavior, Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure...	OMIM:617904
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Upper limb muscle weakness, Lower limb muscle weakness, Tremor, Fatiguable weakness of proximal l...	ORPHA:90117
Myasthenic Syndrome, Congenital, 13	Fatigable weakness, Muscle fiber tubular inclusions	OMIM:614750
Benign Adult Familial Myoclonic Epilepsy	Generalized-onset seizure, Myoclonus, Focal-onset seizure, Hand tremor	ORPHA:86814
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Myoclonus, Tremor, Compulsive behaviors, Dystonia, Agitation	OMIM:619651
Spinocerebellar Ataxia 21	Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnormality of extrapyram...	OMIM:607454
Postencephalitic Parkinsonism	Involuntary movements, Resting tremor, Seizure, Akinesia, Cogwheel rigidity, Rigidity, Babinski s...	ORPHA:97349
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc...	OMIM:619386
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Seizure, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:300894
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Seizure, Myoclonus, Hypertonia, Unsteady gait	OMIM:610090
Myasthenic Syndrome, Congenital, 15	Fatigable weakness, Multiple joint contractures	OMIM:616227
Autosomal Dominant Epilepsy With Auditory Features	Focal autonomic seizure, Depression, Generalized-onset seizure, Bilateral tonic-clonic seizure wi...	ORPHA:101046
Combined Oxidative Phosphorylation Deficiency 6	Tongue fasciculations, Involuntary movements, Hypokinesia, Seizure, Generalized-onset seizure, Te...	OMIM:300816
Acquired Partial Lipodystrophy	Insulin resistance, Lipoatrophy, Hepatic steatosis	ORPHA:79087
Myoclonic-Atonic Epilepsy	Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Attention deficit hyp...	OMIM:616421
Dyskinesia, Limb And Orofacial, Infantile-Onset	Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus	OMIM:616921
Myoclonic Epilepsy, Familial Infantile	Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye...	OMIM:605021
Temple Syndrome	Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test...	ORPHA:254516
Dystonia 23	Head tremor, Gait disturbance, Myoclonus, Torticollis	OMIM:614860
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Seizure, Myoclonus, Ataxia, Generalized myoclonic seizure	OMIM:545000
Perry Syndrome	Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Parkinsonism, Weight loss, Bradykinesia	OMIM:168605
Dystonia 3, Torsion, X-Linked	Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Tremor	OMIM:314250
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Aggressive...	OMIM:619157
X-Linked Intellectual Disability, Stocco Dos Santos Type	Seizure, Congenital bilateral hip dislocation, Epicanthus, Hyperactivity, Small for gestational age	ORPHA:85288
Developmental And Epileptic Encephalopathy 92	Spasticity, Seizure, Difficulty walking, Inability to walk, Myoclonus, Ataxia	OMIM:617829
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, S...	OMIM:619065
Mitochondrial Complex I Deficiency, Nuclear Type 12	Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Freque...	OMIM:301020
Generalized Epilepsy With Febrile Seizures-Plus	Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur...	ORPHA:36387
Striatonigral Degeneration, Infantile, Mitochondrial	Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Babinski sign, Cl...	OMIM:500003
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Respiratory insufficiency, Death in childhood, Spinal muscular atrophy, ...	OMIM:616081
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Fatigable weakness of skeletal muscles, Respiratory insufficien...	ORPHA:370968
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus, Bilateral tonic-clonic seizure	OMIM:604827
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Intellectual Developmental Disorder, Autosomal Recessive 48	Small hand, Inappropriate laughter, Tremor, Self-mutilation, Aggressive behavior, Narrow palpebra...	OMIM:616269
Temple Syndrome	Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ...	OMIM:616222
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Ta...	OMIM:608594
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete...	OMIM:616033
Migraine, Familial Hemiplegic, 1	Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia, Agitation	OMIM:141500
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Hand tremor, Myoclonus, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal mo...	OMIM:608105
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Hearing impairment, Tremor	ORPHA:217012
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty...	OMIM:619326
Developmental And Epileptic Encephalopathy 27	Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil...	OMIM:616139
Donohue Syndrome	Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp...	OMIM:246200
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s...	ORPHA:79083
Developmental And Epileptic Encephalopathy 69	Spastic tetraplegia, Inability to walk, Myoclonus, Hyperkinetic movements, Status epilepticus	OMIM:618285
Progressive Supranuclear Palsy-Corticobasal Syndrome	Diminished movement, Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular r...	ORPHA:240103
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ...	ORPHA:2089
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Epicanthus, ...	OMIM:309548
Bardet-Biedl Syndrome 9	Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity	OMIM:615986
Combined Oxidative Phosphorylation Deficiency 45	Low-set ears, Failure to thrive, Seizure, Tremor, Epicanthus, Ataxia	OMIM:618951
Intellectual Developmental Disorder, X-Linked 101	Clinodactyly, Seizure, Hyperactivity, Unilateral ptosis, Macrotia	OMIM:300928
Myoclonus, Familial, 2	Limb myoclonus, Seizure	OMIM:618364
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ...	OMIM:606069
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ...	ORPHA:2088
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration...	ORPHA:79086
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Episodic Ataxia, Type 5	Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ...	OMIM:613855
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hyperactivity, Ata...	OMIM:615924
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Seizure, Slender build, Myoclonus, Limb tremor, Focal tonic seizure, Hypertonia	OMIM:300699
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:619048
Developmental And Epileptic Encephalopathy 6B	Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ...	OMIM:619317
Cerebral Creatine Deficiency Syndrome 2	Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus...	OMIM:612736
Developmental And Epileptic Encephalopathy 32	Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo...	OMIM:616366
Glut1 Deficiency Syndrome 1	Spasticity, Seizure, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis	OMIM:606777
Combined Saposin Deficiency	Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, Generalized clonic seizure	OMIM:611721
Epilepsy, Myoclonic Juvenile	Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to...	OMIM:254770
Dravet Syndrome	Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz...	OMIM:607208
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Tongue fasciculations, Failure to thrive, Hypokinesia, Ataxia	OMIM:620007
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Restlessness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Irritability	OMIM:610003
Developmental And Epileptic Encephalopathy 26	Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Bilateral tonic-...	OMIM:616056
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Tre...	ORPHA:240071
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Intellectual Developmental Disorder, Autosomal Dominant 69	Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure	OMIM:617863
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Hearing impairment, Tremor	OMIM:614369
Spastic Paraparesis And Deafness	Spastic paraparesis, Hearing impairment, Tremor	OMIM:312910
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Los...	ORPHA:2348
Hartnup Disorder	Seizure, Episodic ataxia, Emotional lability, Generalized tonic seizure, Attention deficit hypera...	OMIM:234500
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si...	ORPHA:254343
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Stat...	ORPHA:71277
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral...	OMIM:617391
Developmental And Epileptic Encephalopathy 56	Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Obsessive-compulsive trait, ...	OMIM:617665
Salt And Pepper Developmental Regression Syndrome	Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus, Choreoathetosis	OMIM:609056
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur...	OMIM:617831
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Tall stature, Hyperins...	OMIM:269700
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Failure to thrive, Hepati...	ORPHA:26792
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl...	OMIM:608612
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula...	OMIM:275000
Developmental And Epileptic Encephalopathy 67	Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic...	OMIM:618141
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Familial Infantile Bilateral Striatal Necrosis	Spasticity, Failure to thrive, Tetraparesis, Cogwheel rigidity, Myoclonus, Gait ataxia, Rigidity,...	ORPHA:225154
Congenital Disorder Of Glycosylation, Type In	Spasticity, Failure to thrive, Seizure, Myoclonus, Ataxia	OMIM:612015
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Juvenile Huntington Disease	Broad-based gait, Seizure, Chorea, Myoclonus, Gait ataxia, Rigidity, Weight loss, Ataxia, Bradyki...	ORPHA:248111
Myoclonic Epilepsy Of Infancy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:86909
Mitochondrial Complex I Deficiency, Nuclear Type 28	Failure to thrive, Generalized-onset seizure, Akinesia, Lower limb spasticity, Abnormal pyramidal...	OMIM:618249
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure, Dyst...	OMIM:618425
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent...	OMIM:274300
Developmental And Epileptic Encephalopathy 11	Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil...	OMIM:613721
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Attention deficit ...	OMIM:245570
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism	ORPHA:3085
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Ceroid Lipofuscinosis, Neuronal, 5	Seizure, Myoclonus, Dysmetria, Loss of ambulation, Clumsiness, Limb tremor, Ataxia, Dysdiadochoki...	OMIM:256731
Developmental And Epileptic Encephalopathy 97	Epileptic spasm, Tremor, Seizure, Stereotypical hand wringing	OMIM:619561
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I...	OMIM:618620
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Focal dystonia, Violent behavior, Frequent falls, Chorea, Limb dystonia, Upper motor ...	ORPHA:216873
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Ab...	ORPHA:251282
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin...	OMIM:620085
Creutzfeldt-Jakob Disease	Extrapyramidal muscular rigidity, Gait ataxia, Myoclonus, Hemiparesis	OMIM:123400
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity, Seizure	OMIM:300271
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria	OMIM:618857
Huntington Disease	Involuntary movements, Decreased body mass index, Hypokinesia, Seizure, Difficulty walking, Inabi...	ORPHA:399
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa...	ORPHA:247585
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Spasticity, Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba...	ORPHA:247234
Dysbetalipoproteinemia	Acute pancreatitis, Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglycer...	ORPHA:412
Chromosome 3Q29 Deletion Syndrome	Low-set ears, Failure to thrive, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hype...	OMIM:609425
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Myoclonus, Hyperkinetic movements...	OMIM:618497
Nemaline Myopathy 8	Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp...	OMIM:615348
Developmental And Epileptic Encephalopathy 112	Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ...	OMIM:620537
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia	ORPHA:309169
Epilepsy, Idiopathic Generalized, Susceptibility To, 8	Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:612899
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Dysmetria, Tonic seizure, Gait disturbance, Hyperactivity, Bilate...	OMIM:618090
Progressive Myoclonic Epilepsy Type 3	Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:263516
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonism with favorable response...	ORPHA:314632
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ...	ORPHA:726
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,...	OMIM:609812
Coenzyme Q10 Deficiency, Primary, 9	Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic seizure with generaliz...	OMIM:619028
Developmental And Epileptic Encephalopathy 74	Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon...	OMIM:618396
Mannosidosis, Beta A, Lysosomal	Hearing impairment, Seizure, Tortuosity of conjunctival vessels, Aggressive behavior, Hyperactivity	OMIM:248510
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Low-set ears, Hyperactivity, Seizure	ORPHA:436151
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl...	OMIM:616053
Myasthenic Syndrome, Congenital, 23, Presynaptic	Calf muscle hypertrophy, Fatigable weakness, Agenesis of corpus callosum	OMIM:618197
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Increased LDL cholestero...	OMIM:278000
Geniospasm 1	Chin myoclonus	OMIM:190100
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia	OMIM:254800
Ceroid Lipofuscinosis, Neuronal, 2	Myoclonus, Seizure, Ataxia	OMIM:204500
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Myoclonus, Tremor, Frequent falls	OMIM:619647
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Spasticity, Seizure, Cerebral palsy, Aggressive behavior, Hyperactivity, Compulsive ...	OMIM:301107
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H...	OMIM:613327
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia	ORPHA:98763
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a...	OMIM:248370
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob...	ORPHA:66624
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Morgagni-Stewart-Morel Syndrome	Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A...	ORPHA:77296
Leukodystrophy, Hypomyelinating, 11	Spasticity, Failure to thrive, Myoclonus, Tremor, Ataxia	OMIM:616494
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Failure to thrive, Seizure, Generalized-onset seizure, Self-mutilation, Hemiparesis, Aggressive b...	OMIM:604317
Mitochondrial Complex I Deficiency, Nuclear Type 31	Dysmetria, Myoclonus, Failure to thrive, Seizure	OMIM:618251
Laron Syndrome	Hypoglycemia, Hypohidrosis, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality o...	ORPHA:633
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity	OMIM:619031
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
Continuous Spikes And Waves During Sleep	Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se...	ORPHA:725
Optic Atrophy 3, Autosomal Dominant	Hearing impairment, Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Small for gestational age, Failure to thrive, Seizure, Akinesia, Generalized tonic seizure, Hyper...	OMIM:619147
Dravet Syndrome	Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni...	ORPHA:33069
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress...	OMIM:607346
Fetal Akinesia Syndrome, X-Linked	Hypokinesia, Stillbirth	OMIM:300073
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Hyperphenylalaninemia, Bh4-Deficient, C	Seizure, Myoclonus, Tremor, Hypertonia, Choreoathetosis	OMIM:261630
Perlman Syndrome	Abnormal pancreas morphology, Tall stature, Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Femo...	ORPHA:2849
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c...	OMIM:605814
Benign Familial Neonatal Epilepsy	Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal clonic seizure, Generalized toni...	ORPHA:1949
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Seizure, Epileptic spasm, Myoclonus, Ataxia, Erratic myoclonus, Spastic tetraplegia	OMIM:619971
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Myoclonic seizure, Clinodactyly, Large fleshy ears, Myoclonus, Gait ataxia, Tremor,...	OMIM:619092
Parkinson Disease 23, Autosomal Recessive Early-Onset	Spasticity, Resting tremor, Akinesia, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Cholesteryl Ester Storage Disease	Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl...	ORPHA:75234
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig...	ORPHA:2593
Progressive Myoclonic Epilepsy With Dystonia	Hemiplegia, Myoclonus, Hemiparesis, Abnormality of extrapyramidal motor function, Abnormal pyrami...	ORPHA:352596
Spinocerebellar Ataxia 37	Ataxia, Dysphagia, Tremor, Frequent falls	OMIM:615945
Intellectual Developmental Disorder, X-Linked 104	Spasticity, Seizure, Tremor, Aggressive behavior, Hyperactivity, Ataxia, Abnormal pinna morphology	OMIM:300983
Autosomal Recessive Spastic Paraplegia Type 48	Broad-based gait, Progressive spastic paraplegia, Myoclonus, Parkinsonism, Lower limb spasticity,...	ORPHA:306511
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Focal impaired awareness seizure, Seizure, Bilateral ptosis, Focal-onset seizu...	ORPHA:330050
14Q11.2 Microduplication Syndrome	Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior	ORPHA:261229
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva...	ORPHA:71212
Hereditary Geniospasm	Chin myoclonus	ORPHA:53372
Familial Chylomicronemia Syndrome	Acute pancreatitis, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl...	ORPHA:444490
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the...	ORPHA:280365
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Bilateral tonic-clonic seizure...	OMIM:617862
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertensi...	ORPHA:79319
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay	Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:620465
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, A...	ORPHA:73272
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6...	OMIM:620292
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Cachexia, Parkinsonism, Bilateral tonic-cl...	OMIM:618093
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Vertigo, Gait ataxia, Abnormal pyra...	ORPHA:101110
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl...	ORPHA:465508
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Seizure, Irritability, Aggressi...	ORPHA:3077
Intellectual Developmental Disorder, X-Linked 107	Seizure, Prominent crus of helix, Obesity, Upslanted palpebral fissure, Aggressive behavior, Atte...	OMIM:301013
Developmental And Epileptic Encephalopathy 23	Long eyelashes, Thick eyebrow, Infantile spasms, Myoclonus, Low anterior hairline, Tonic seizure,...	OMIM:615859
Paroxysmal Non-Kinesigenic Dyskinesia	Involuntary movements, Chorea, Rigidity, Hyperkinetic movements, Torticollis, Paroxysmal dyskines...	ORPHA:98810
Arthrogryposis Multiplex Congenita 6	Akinesia, Neonatal death	OMIM:619334
Xq25 Microduplication Syndrome	Highly arched eyebrow, Sparse eyebrow, Seizure, Epicanthus, Hyperactivity, Abnormality of the pal...	ORPHA:521258
Foxg1 Syndrome	Spasticity, Difficulty walking, Inability to walk, Infantile spasms, Myoclonus, Decreased body we...	ORPHA:561854
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Seckel Syndrome 10	Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri...	OMIM:617253
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Seizure, Bruxism, Epicanthus, Hyperactivity, Short foot, Hip dislocation	OMIM:300434
Lissencephaly 10	Depression, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ...	OMIM:618873
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating hepatic transaminase ...	ORPHA:94086
Early Myoclonic Encephalopathy	Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal moto...	ORPHA:1935
Developmental And Epileptic Encephalopathy 13	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	OMIM:614558
Developmental And Epileptic Encephalopathy 16	Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Clonic seizure, Status epil...	OMIM:615338
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Spasticity, Failure to thrive, Seizure, Recurrent otitis media, Telecanthus, Upslanted palpebral ...	OMIM:615286
Muscular Dystrophy, Congenital, 1B	Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a...	OMIM:604801
Developmental And Epileptic Encephalopathy 98	Refractory status epilepticus, Focal-onset seizure, Attention deficit hyperactivity disorder, Clo...	OMIM:619605
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Episodic Ataxia, Type 9	Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon...	OMIM:618924
Dystonia 28, Childhood-Onset	Spasticity, Tip-toe gait, Retrocollis, Myoclonus, Tremor, Gait disturbance, Torticollis	OMIM:617284
Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Generalized-onset seizure, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness,...	ORPHA:79263
Spinocerebellar Ataxia 17	Broad-based gait, Seizure, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Park...	OMIM:607136
Hyperprolinemia, Type I	Seizure, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy, Status epilepticus	OMIM:239500
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Inability...	OMIM:618917
Dystonia 15, Myoclonic	Myoclonus	OMIM:607488
Developmental Delay With Or Without Epilepsy	Myoclonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Seizure, Febrile seiz...	OMIM:620540
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Low-set ears, Hearing impairment, Seizure, Oral-pharyngeal dysphagia, Downslanted palpebral fissu...	ORPHA:480907
Muscular Hypertonia, Lethal	Hypokinesia, Hypertonia	OMIM:254120
Smith-Magenis syndrome	Brachydactyly, Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac...	OMIM:301008
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Juvenile Absence Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:1941
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit...	ORPHA:48818
Coffin-Siris Syndrome 8	Self-injurious behavior, Failure to thrive, Seizure, Long eyelashes, Thick eyebrow, Aggressive be...	OMIM:618362
Lopes-Maciel-Rodan Syndrome	Spasticity, Small hand, Seizure, Bruxism, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign...	OMIM:617435
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Spasticity, Myoclonic seizure, Seizure, Inability to walk, Epileptic spasm, Chorea, Myoclonus, Hy...	OMIM:614254
Juvenile Myoclonic Epilepsy	Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y...	ORPHA:307
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory insufficienc...	OMIM:614399
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Obesity, Motor stereotypy	OMIM:613886
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Generalized-onset seizure, Difficulty walking, Myoclonus, Tremor, Frequent...	OMIM:159950
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Obesity, Hypergonadotropic hypogonadism	OMIM:619737
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Facial diplegia, Neonatal death, Respiratory insufficiency due to muscle...	OMIM:611890
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance, Truncal obesity	OMIM:620639
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Inappropriate behavior, Irritability, Disinhibition, Aggressive behavior, G...	ORPHA:275864
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g...	OMIM:619290
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Severe X-Linked Mitochondrial Encephalomyopathy	Tongue fasciculations, Involuntary movements, Hypokinesia	ORPHA:238329
Succinic Semialdehyde Dehydrogenase Deficiency	Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Aggressive behavior, H...	OMIM:271980
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Chr...	OMIM:203800
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Seizure, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor stereotypy	OMIM:619470
Hsd10 Disease	Spastic paraparesis, Seizure, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis	ORPHA:391417
Spinocerebellar Ataxia 50	Hearing impairment, Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ptos...	OMIM:620158
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr...	OMIM:612016
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron...	ORPHA:189427
Ceroid Lipofuscinosis, Neuronal, 3	Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Loss of ambulation, Parkinsonis...	OMIM:204200
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Bilateral tonic-clonic seizure	ORPHA:139406
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Seizure, Ataxia	OMIM:613402
Autosomal Recessive Dopa-Responsive Dystonia	Hypokinesia, Postural tremor, Myoclonus, Gait ataxia, Rigidity, Abnormality of extrapyramidal mot...	ORPHA:101150
Short Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse...	OMIM:269880
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ...	ORPHA:96184
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Postprandial hyperglycemia, Adrenocortical adenoma, Increased intramyocellu...	ORPHA:681
Van Den Bosch Syndrome	Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	ORPHA:3417
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity, Hypogonadotropic hypogonadism	ORPHA:177910
Familial Dyskinesia And Facial Myokymia	Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia	ORPHA:324588
Atypical Rett Syndrome	Spasticity, Small hand, Short foot, Involuntary movements, Neonatal seizure, Limb myoclonus, Infa...	ORPHA:3095
Hereditary Late-Onset Parkinson Disease	Shuffling gait, Resting tremor, Akinesia, Rigidity, Parkinsonism, Weight loss, Parkinsonism with ...	ORPHA:411602
Developmental And Epileptic Encephalopathy 30	Bilateral tonic-clonic seizure, Motor stereotypy, Generalized myoclonic seizure, Seizure	OMIM:616341
Dystonia 6, Torsion	Myoclonus, Torticollis	OMIM:602629
Epilepsy, Familial Focal, With Variable Foci 4	Focal impaired awareness seizure, Focal-onset seizure, Attention deficit hyperactivity disorder, ...	OMIM:617935
Smith-Magenis Syndrome	Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Increased body...	OMIM:182290
Epilepsy, Familial Adult Myoclonic, 1	Tremor, Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:601068
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Highly arched eyebrow, Spasticity, Short palpebral fissure, Seizure, Cerebral palsy...	ORPHA:352490
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat...	OMIM:618400
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d...	OMIM:620482
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom...	OMIM:614487
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Hearing impairment, Vertigo, ...	ORPHA:276198
Hypotonia-Cystinuria Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Hypocalcemia, Polyphagi...	OMIM:606407
Childhood-Onset Spasticity With Hyperglycinemia	Spastic dysarthria, Myoclonus, Babinski sign, Loss of ability to walk in early childhood, Hyperto...	ORPHA:401866
Intellectual Developmental Disorder, X-Linked 1	Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Atonic seizure	OMIM:309530
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Oral aversion, Weight loss, Anorexia,...	ORPHA:134
Autosomal Spastic Paraplegia Type 58	Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubat...	ORPHA:397946
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Seizure, Generalized-onset seizure, Aggressive b...	OMIM:619827
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Dystonia, Attention deficit hyperactivity d...	OMIM:619725
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera...	OMIM:603471
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Paroxysmal dyskinesia,...	OMIM:606703
Developmental And Epileptic Encephalopathy 42	Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seiz...	OMIM:617106
Synaptic Congenital Myasthenic Syndromes	Neonatal respiratory distress, Skeletal muscle atrophy, Unfavorable response of muscle weakness t...	ORPHA:98915
Mercaptolactate-Cysteine Disulfiduria	Hypokinesia, Bilateral tonic-clonic seizure	OMIM:249650
Ck Syndrome	Seizure, Slender build, Upslanted palpebral fissure, Almond-shaped palpebral fissure, Aggressive ...	ORPHA:251383
Intellectual Developmental Disorder, Autosomal Dominant 45	Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Slender build, Chorea...	OMIM:617600
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Tremor, Weakness of facial musculature	OMIM:618637
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Elevate...	OMIM:212140
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