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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 (1608 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		Fatigable weakness, Ataxia, Difficulty walking	OMIM:616330
Presynaptic Congenital Myasthenic Syndromes		Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	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
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy...	ORPHA:329249
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant	Dementia, Cognitive impairment	OMIM:618564
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv...	OMIM:232700
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def...	ORPHA:71526
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you...	ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Obesity And Hypopigmentation	Hyperinsulinemia, Polyphagia, Obesity, Overgrowth, Hepatic steatosis	OMIM:620195
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Increased C-peptide level, Large for gestational age, Episodic hyperhidrosis, Hyper...	ORPHA:276575
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:604367
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Increased C-peptide level, Large for gestational age, Episodic h...	ORPHA:276580
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc...	OMIM:612526
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Increased serum ser...	OMIM:608636
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Large for gestational age, Episod...	ORPHA:276556
Corticobasal Syndrome	Speech apraxia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Oromotor apr...	ORPHA:454887
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:615006
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Aggressive behavior, Large for gestational age, Seizure, Bruxism, Spasticity	ORPHA:356996
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Multiple Symmetric Lipomatosis	Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Hepatomegaly	ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy...	OMIM:609968
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Tall stature, Obesity	OMIM:618406
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat...	ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity...	OMIM:619911
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Agitation, Pancrea...	ORPHA:276608
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res...	OMIM:615980
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ...	OMIM:613877
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus	OMIM:246650
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Type 1 Diabetes Mellitus	Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po...	OMIM:222100
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty...	OMIM:605809
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Epilepsy, Nocturnal Frontal Lobe, 2	Depression, Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior	OMIM:603204
Developmental And Epileptic Encephalopathy 104	Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se...	OMIM:619970
Developmental And Epileptic Encephalopathy 37	Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ...	OMIM:616981
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic s...	OMIM:617113
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay	Inability to walk, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, Aggr...	OMIM:619639
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Aggressive behavior, Seizure, Bruxism, Spasticity	OMIM:615493
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci...	OMIM:610717
Episodic Ataxia, Type 1	Incoordination, Tremor, Vertigo, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr...	ORPHA:240094
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl...	ORPHA:436182
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:151660
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus	OMIM:208700
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Abnormal peripheral nervous system synaptic transmission, Facial palsy, General...	ORPHA:353327
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc...	ORPHA:266
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Respiratory insufficienc...	OMIM:603034
Myasthenic Syndrome, Congenital, 18	Fatigable weakness, Ataxia, Difficulty walking	OMIM:616330
Epilepsy, Progressive Myoclonic, 12	Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Depression, Myoclonus, Difficulty walking, Att...	OMIM:619191
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu...	OMIM:301033
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Atonic seizure	OMIM:611092
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, ...	ORPHA:95434
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizure	OMIM:612437
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Epilepsy, Progressive Myoclonic 7	Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Congenital Myopathy 9A	Cryptorchidism, Tongue fasciculations, Akinesia, Obesity	OMIM:618822
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakn...	ORPHA:98913
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive...	OMIM:300088
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Fatiguable weakness of proximal limb muscles,...	ORPHA:90117
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Asympt...	ORPHA:35878
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Abnormality of ...	OMIM:162350
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos...	OMIM:608709
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Hypertriglyceridem...	ORPHA:528
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen...	OMIM:616346
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Stxbp1-Related Encephalopathy	Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil...	ORPHA:599373
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Epilepsy, Progressive Myoclonic, 8	Bilateral tonic-clonic seizure, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus,...	OMIM:616230
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Respiratory insufficiency, Decreased miniature endplate potentials, Prolonged miniature endplate ...	OMIM:616321
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance	OMIM:307500
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, P...	OMIM:601462
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior	OMIM:617709
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Bilateral coxa valga,...	OMIM:620270
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Agitation, Emotional lab...	OMIM:617171
Fraxe Intellectual Disability	Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Prominent ear helix, Clumsiness, Ste...	ORPHA:100973
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic failure, Elevated circulating...	OMIM:617872
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Myoclonus-Dystonia Syndrome	Spinal myoclonus, Limb myoclonus, Torticollis, Myoclonus	ORPHA:36899
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic...	OMIM:616540
Lennox-Gastaut Syndrome	Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M...	ORPHA:2382
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a...	ORPHA:79644
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Epilepsy, Progressive Myoclonic, 11	Ataxia, Rigidity, Seizure, Myoclonus, Intention tremor	OMIM:618876
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure	ORPHA:22
Epilepsy, Progressive Myoclonic, 6	Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:614018
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Seizure, Myoclo...	OMIM:607317
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse...	ORPHA:208441
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking	OMIM:613608
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Seizure, Myoclonus	OMIM:125370
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ...	ORPHA:101039
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, D...	OMIM:614561
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Bilateral tonic-clonic seizure, Ataxia, Aggressive behavior, Chorea, Seizure, Self...	ORPHA:382
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Decreased serum leptin, Obesity	OMIM:614962
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Hyperactivity, Generalized-onset seizure, Babinski sign, Spastic tetraplegia, Ankle clonus, Seizu...	OMIM:616657
Ceroid Lipofuscinosis, Neuronal, 8	Loss of ambulation, Seizure, Ataxia, Myoclonus	OMIM:600143
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire...	OMIM:615400
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu...	ORPHA:2590
Developmental And Epileptic Encephalopathy 24	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto...	OMIM:615871
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia...	ORPHA:363710
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Upper motor neuron dysfunction	ORPHA:401901
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Manganese Poisoning	Decreased female libido, Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Impotence, H...	ORPHA:306682
Landau-Kleffner Syndrome	Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz...	ORPHA:98818
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Un...	OMIM:616409
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor...	ORPHA:79262
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp...	OMIM:300717
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Seizure, Ataxia	OMIM:213000
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Infantile Spasms Syndrome	Myoclonus, Infantile spasms	ORPHA:3451
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet...	OMIM:615381
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Facial palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Weak...	OMIM:608930
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul...	ORPHA:79237
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Seizure, Myoclonus	OMIM:217200
Developmental And Epileptic Encephalopathy 59	Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Self-...	OMIM:617904
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Spinal Muscular Atrophy, Type I	Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormality of extrapyramidal motor ...	OMIM:204300
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non...	OMIM:607682
Essential Fructosuria	Hyperglycemia, Abnormality of glycolipid metabolism	ORPHA:2056
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ...	OMIM:611369
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Babinski sign, Gait ataxia, ...	OMIM:615362
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Epilepsy, Familial Adult Myoclonic, 7	Seizure, Myoclonic tremor	OMIM:618075
Developmental And Epileptic Encephalopathy 40	Small for gestational age, Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity	OMIM:617065
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Hypokinesia	OMIM:609161
Myasthenic Syndrome, Congenital, 13	Fatigable weakness, Muscle fiber tubular inclusions	OMIM:614750
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Benign Adult Familial Myoclonic Epilepsy	Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor	ORPHA:86814
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive	OMIM:619651
Spinocerebellar Ataxia 21	Ataxia, Parkinsonism, Akinesia, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro...	OMIM:607454
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Ataxia, Seizure, Myoclonus, Generalized myoclonic seizure, Spasticity	OMIM:545000
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Short stepped shuffling gait	OMIM:168605
Hartnup Disorder	Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional labi...	OMIM:234500
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Combined Oxidative Phosphorylation Deficiency 6	Generalized-onset seizure, Involuntary movements, Tetraplegia, Seizure, Tongue fasciculations, Hy...	OMIM:300816
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Neurodegeneration With Brain Iron Accumulation 5	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Seizure, Spastic paraparesis	OMIM:300894
Acquired Partial Lipodystrophy	Hepatic steatosis, Insulin resistance, Lipoatrophy	ORPHA:79087
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Seizure, Hypertonia, Myoclonus, Failure to thrive	OMIM:610090
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Myasthenic Syndrome, Congenital, 15	Fatigable weakness, Multiple joint contractures	OMIM:616227
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Elev...	OMIM:619386
X-Linked Intellectual Disability, Stocco Dos Santos Type	Epicanthus, Hyperactivity, Small for gestational age, Seizure, Congenital bilateral hip dislocation	ORPHA:85288
Dystonia 23	Torticollis, Gait disturbance, Myoclonus, Head tremor	OMIM:614860
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors	OMIM:159900
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication	OMIM:314250
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Spasticity	OMIM:617829
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Bilateral tonic-clonic seizure, Failure to thrive in infancy, Babinski sign, Spastic dipl...	OMIM:619065
Mitochondrial Complex I Deficiency, Nuclear Type 12	Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizure, Gait imbalance, ...	OMIM:301020
Myoclonic Epilepsy, Familial Infantile	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Impaired tandem gait, G...	OMIM:605021
Myoclonic-Atonic Epilepsy	Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, My...	OMIM:616421
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious...	OMIM:616222
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis	OMIM:261650
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener...	OMIM:619157
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,...	OMIM:616081
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl...	ORPHA:370968
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Lipodyst...	OMIM:608594
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Intellectual Developmental Disorder, Autosomal Recessive 48	Aggressive behavior, Tremor, Small hand, Narrow palpebral fissure, Inappropriate laughter, Macrot...	OMIM:616269
Postencephalitic Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Diminished movement, Rigidity, Babinski sign, Ab...	ORPHA:97349
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-...	ORPHA:36387
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Hand tremor...	OMIM:608105
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei...	OMIM:616139
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical bod...	OMIM:309548
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Diminished movement, Tremor, Rigidity, Abnormal pyramidal si...	ORPHA:240103
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Hyper...	ORPHA:79083
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,...	OMIM:246200
Migraine, Familial Hemiplegic, 1	Ataxia, Tremor, Hemiparesis, Seizure, Agitation, Hemiplegia	OMIM:141500
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Seizure, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Developmental And Epileptic Encephalopathy 69	Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Status epilepticus, Myoclonus	OMIM:618285
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia, Hearing impairment	ORPHA:217012
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Congenital Myopathy 14	Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Intellectual Developmental Disorder, X-Linked 101	Unilateral ptosis, Hyperactivity, Seizure, Clinodactyly, Macrotia	OMIM:300928
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Combined Oxidative Phosphorylation Deficiency 45	Epicanthus, Ataxia, Tremor, Seizure, Low-set ears, Failure to thrive	OMIM:618951
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior, Tortuosity of conjunctival vessels, Seizure, Hearing impairment	OMIM:248510
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Fanconi-Bickel Syndrome	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Elevated circu...	ORPHA:2088
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti...	OMIM:610582
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Abnormal eyelid morphology, Tremor, Babinski sig...	ORPHA:251282
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod...	ORPHA:2348
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro...	OMIM:612736
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Focal tonic seizure, Limb tremor, Seizure, Hypertonia, Myoclonus, Slender build	OMIM:300699
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea...	OMIM:619048
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Combined Saposin Deficiency	Generalized clonic seizure, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations	OMIM:611721
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia...	ORPHA:79086
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Failure to thrive, Ataxia, Tongue fasciculations, Hypokinesia	OMIM:620007
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Restlessness, Irritability, Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:610003
Classic Progressive Supranuclear Palsy Syndrome	Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slur...	ORPHA:240071
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Tetraparesis, Dystoni...	OMIM:615924
Muscular Dystrophy, Congenital, 1B	Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,...	OMIM:604801
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis, Hearing impairment	OMIM:312910
Developmental And Epileptic Encephalopathy 6B	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,...	OMIM:619317
Dravet Syndrome	Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis...	OMIM:607208
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Dysmetria, Gait ...	OMIM:618090
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder	OMIM:617863
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Hearing impairment	OMIM:614369
Episodic Ataxia, Type 5	Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz...	OMIM:613855
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Bardet-Biedl Syndrome 22	Obesity, Hypogonadism, Polyphagia, Large for gestational age	OMIM:617119
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3...	OMIM:616366
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Seizure, Hemiparesis, Hypertonia, Status epilepticus,...	ORPHA:71277
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Salt And Pepper Developmental Regression Syndrome	Bilateral tonic-clonic seizure, Choreoathetosis, Status epilepticus, Myoclonus, Failure to thrive	OMIM:609056
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Lipod...	OMIM:269700
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Progressive gait ataxia, Lower limb hypertonia, Myo...	ORPHA:254343
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h...	ORPHA:26792
Developmental And Epileptic Encephalopathy 56	Ataxia, Poor coordination, Generalized non-motor (absence) seizure, Focal motor seizure, Myocloni...	OMIM:617665
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Ceroid Lipofuscinosis, Neuronal, 2	Seizure, Ataxia, Myoclonus	OMIM:204500
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata...	ORPHA:248111
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Congenital Disorder Of Glycosylation, Type In	Ataxia, Seizure, Myoclonus, Spasticity, Failure to thrive	OMIM:612015
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Limb tremor, Dysmetria, Clumsiness, Seizure, Dysdiadochokinesis, Myoclonus, Loss of ambul...	OMIM:256731
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst...	OMIM:618425
Intellectual Developmental Disorder, X-Linked 72	Seizure, Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Familial Infantile Bilateral Striatal Necrosis	Failure to thrive, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathe...	ORPHA:225154
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur...	ORPHA:69076
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:245570
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple...	OMIM:613721
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas...	ORPHA:216873
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, General...	ORPHA:86909
Creutzfeldt-Jakob Disease	Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia	OMIM:123400
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridem...	ORPHA:412
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz...	OMIM:618497
Developmental And Epileptic Encephalopathy 97	Tremor, Seizure, Epileptic spasm, Stereotypical hand wringing	OMIM:619561
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Nemaline Myopathy 8	Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ...	OMIM:615348
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive...	OMIM:609425
Mitochondrial Complex I Deficiency, Nuclear Type 28	Lower limb spasticity, Generalized-onset seizure, Akinesia, Abnormal pyramidal sign, Choreoatheto...	OMIM:618249
Alpers-Huttenlocher Syndrome	Ataxia, Bilateral tonic-clonic seizure, Paraparesis, Focal-onset seizure, Choreoathetosis, Myoclo...	ORPHA:726
Citrullinemia Type Ii	Elevated hepatic transaminase, Restlessness, Hyperactivity, Decreased HDL cholesterol concentrati...	ORPHA:247585
Restless Legs Syndrome, Susceptibility To, 1	Myoclonus	OMIM:102300
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Park...	ORPHA:314632
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Aggressive behavior, Overfriendliness	OMIM:618010
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, He...	OMIM:248370
Huntington Disease	Clonus, Involuntary movements, Abnormal libido, Rigidity, Inability to walk, Chorea, Babinski sig...	ORPHA:399
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys...	OMIM:619028
Sandhoff Disease, Adult Form	Dystonia, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dysphagia, Spasticity	ORPHA:309169
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Cerebral palsy, Aggressive behavior, Phonic tics, Seizure, Compulsive behaviors, D...	OMIM:301107
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Bilateral tonic-clonic seizure, Progressive cerebellar ataxia, Chin m...	ORPHA:263516
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus	OMIM:619647
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi...	OMIM:278000
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus	ORPHA:98763
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Geniospasm 1	Chin myoclonus	OMIM:190100
Myoclonus, Familial, 2	Limb myoclonus	OMIM:618364
Epilepsy, Familial Adult Myoclonic, 6	Myoclonic tremor	OMIM:618074
Hemifacial Spasm, Familial	Hemifacial spasm	OMIM:141405
Myasthenic Syndrome, Congenital, 23, Presynaptic	Fatigable weakness, Calf muscle hypertrophy, Agenesis of corpus callosum	OMIM:618197
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomoto...	OMIM:612716
Hereditary Geniospasm	Chin myoclonus, Intention tremor	ORPHA:53372
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Seizure, Hyperactivity, Low-set ears	ORPHA:436151
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Truncal obesity, Delayed puberty...	ORPHA:633
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure	OMIM:254800
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Mitochondrial Complex I Deficiency, Nuclear Type 31	Seizure, Failure to thrive, Myoclonus, Dysmetria	OMIM:618251
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive...	OMIM:604317
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure	OMIM:619031
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe...	OMIM:614399
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp...	ORPHA:75234
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Small for gestational age, Akinesia, Spastic tetraplegia, Seizure, Hypertonia, Failure to thrive,...	OMIM:619147
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc...	OMIM:607346
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function, Hearing impairment	OMIM:165300
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Hypokinesia	OMIM:300073
Continuous Spikes And Waves During Sleep	Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-onset seizur...	ORPHA:725
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus	OMIM:261630
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy	OMIM:613869
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Spasticity	OMIM:616840
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Hyperinsulinemia, Abnormal pancreas morphology, Ta...	ORPHA:2849
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem...	ORPHA:369
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Myoclonus, Erratic myoclonus	OMIM:619971
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen...	ORPHA:33069
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Epicanthus, Bilateral tonic-clonic seizure, Telecanthus, Aggressive behavior, Almo...	OMIM:620292
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressi...	ORPHA:306511
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Arachnodactyly, Tremor...	OMIM:619092
Progressive Myoclonic Epilepsy With Dystonia	Generalized myoclonic seizure, Abnormal pyramidal sign, Hemiparesis, Status epilepticus, Myoclonu...	ORPHA:352596
Spinocerebellar Ataxia 13	Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas...	OMIM:605259
14Q11.2 Microduplication Syndrome	Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism	ORPHA:261229
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Type 2 ...	ORPHA:2593
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	ORPHA:280365
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Seizure, Spasticity	OMIM:300983
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia, Dysphagia	OMIM:615945
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Bilateral tonic-clonic seizure, Gait ataxia, Dysphagia, Recurrent hand flapping...	OMIM:617862
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Bilateral ptosis,...	ORPHA:330050
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Upslanted palpebral fissure...	OMIM:301013
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc...	ORPHA:98915
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S...	ORPHA:3077
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Decreased liver function, H...	ORPHA:79319
Spinocerebellar Ataxia 48	Dystonia, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinsk...	OMIM:618093
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Pa...	ORPHA:98810
Developmental And Epileptic Encephalopathy 23	Double eyebrow, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Synophrys, Low a...	OMIM:615859
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypo...	ORPHA:73272
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly	DECIPHER:8
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Vertigo, Abnormal pyramidal...	ORPHA:101110
Arthrogryposis Multiplex Congenita 6	Neonatal death, Akinesia	OMIM:619334
Xq25 Microduplication Syndrome	Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Abnormality of the palpebral fi...	ORPHA:521258
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture...	OMIM:603689
Coffin-Siris Syndrome 8	Hyperactivity, Aggressive behavior, Seizure, Self-injurious behavior, Long eyelashes, Failure to ...	OMIM:618362
Early Myoclonic Encephalopathy	Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ...	ORPHA:1935
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Epicanthus, Hyperactivity, Small hand, Hip dislocation, Short foot, Seizure, Bruxism	OMIM:300434
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Lopes-Maciel-Rodan Syndrome	Dystonia, Tremor, Abnormal pyramidal sign, Small hand, Dysphagia, Ankle clonus, Seizure, Bradykin...	OMIM:617435
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Epicanthus, Telecanthus, Aggressive behavior, Upslanted palpebral fissure, Seizure...	OMIM:615286
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann...	OMIM:239500
Trisomy X	Epicanthus, Tremor, Upslanted palpebral fissure, Seizure, Hip dysplasia, Attention deficit hypera...	ORPHA:3375
Spinocerebellar Ataxia 17	Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait ataxia, Se...	OMIM:607136
Developmental And Epileptic Encephalopathy 16	Clonic seizure, Hemiparesis, Status epilepticus, Myoclonus, Abnormality of extrapyramidal motor f...	OMIM:615338
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula...	ORPHA:264580
Developmental And Epileptic Encephalopathy 98	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ...	OMIM:619605
Foxg1 Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Focal-onset seizure, Choreoa...	ORPHA:561854
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo...	OMIM:618924
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Spasticity	OMIM:617284
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva...	OMIM:617253
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Epicanthus, Oral-pharyngeal dysphagia, Tremor, Synophrys, Prominent protruding coccyx, Spastic di...	ORPHA:480907
Lissencephaly 10	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:618873
Infantile Neuronal Ceroid Lipofuscinosis	Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fin...	ORPHA:79263
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Benign Familial Neonatal Epilepsy	Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure...	ORPHA:1949
Dystonia 15, Myoclonic	Myoclonus	OMIM:607488
Muscular Hypertonia, Lethal	Hypertonia, Hypokinesia	OMIM:254120
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo...	OMIM:182290
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Clonic seizure, Focal-onset sei...	OMIM:618917
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Generalized-onset seizure, Tremor, Tongue fasciculations, Difficulty walking, Myoclonus, Generali...	OMIM:159950
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosple...	ORPHA:444490
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Epileptic spasm, Inability to walk, Chorea, Myoclonic seizure, Seizure, Hyperkinetic movements, F...	OMIM:614254
Ceroid Lipofuscinosis, Neuronal, 3	Bilateral tonic-clonic seizure, Parkinsonism, Seizure, Abnormality of extrapyramidal motor functi...	OMIM:204200
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert...	OMIM:203800
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w...	OMIM:301008
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism, Obesity	OMIM:619737
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh...	ORPHA:275864
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Facial diplegia, Respi...	OMIM:611890
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Juvenile Myoclonic Epilepsy	Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s...	ORPHA:307
Mahvash Disease	Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g...	OMIM:619290
Severe X-Linked Mitochondrial Encephalomyopathy	Involuntary movements, Tongue fasciculations, Hypokinesia	ORPHA:238329
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased...	ORPHA:189427
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hsd10 Disease	Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spastic paraparesis	ORPHA:391417
Spinocerebellar Ataxia 50	Ptosis, Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, Apraxia, Act...	OMIM:620158
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera...	OMIM:612016
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru...	ORPHA:96184
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Seizure, Abnormal repetitive ma...	OMIM:619470
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm...	ORPHA:101150
Microcephaly, Seizures, And Developmental Delay	Seizure, Hyperactivity, Ataxia	OMIM:613402
Encephalopathy Due To Prosaposin Deficiency	Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor...	OMIM:271980
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim...	ORPHA:48818
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Park...	ORPHA:411602
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Polyphagia, Obesity	ORPHA:177910
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive...	OMIM:619827
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Limb hypertonia	ORPHA:324588
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se...	OMIM:616341
Short Syndrome	Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin-resistant diabete...	OMIM:269880
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Dystonia 6, Torsion	Torticollis, Myoclonus	OMIM:602629
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypocalcem...	OMIM:606407
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria,...	OMIM:614487
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Cerebral palsy, Small for gestational age, Epicanthus, Highly arched eyebrow, Repe...	ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Slender build, Arachnodactyly, Cho...	OMIM:617600
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior	OMIM:309530
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor	OMIM:601068
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi...	ORPHA:397946
Van Den Bosch Syndrome	Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	ORPHA:3417
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, ...	ORPHA:424107
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Myasthenic Syndrome, Congenital, 10	Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Proximal amyotrophy, Fa...	OMIM:254300
Spinocerebellar Ataxia Type 36	Ptosis, Ataxia, Vertigo, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Inte...	ORPHA:276198
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Cryptorchidism, Chorea, ...	ORPHA:485350
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Mercaptolactate-Cysteine Disulfiduria	Bilateral tonic-clonic seizure, Hypokinesia	OMIM:249650
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets, Postpran...	ORPHA:681
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Chorea, Nocturnal seizures,...	OMIM:619725
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus	OMIM:605899
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Weakness of facial musculature, Respiratory failure	OMIM:618637
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Intellectual Developmental Disorder, Autosomal Recessive 61	Hyperactivity, Posteriorly rotated ears, Clonus, Infantile spasms, Aggressive behavior, Tonic sei...	OMIM:617773
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hand muscle atrophy, Respiratory failure, Limb muscle weakness	OMIM:600561
Alexander Disease Type I	Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Seizure, Palatal tremor, Failure to thrive	ORPHA:363717
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Telecanthus, Seizure, Compulsive behaviors, Attention deficit hyperactivity disord...	OMIM:619927
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Involuntary movements, Infantile spasms, Tremor, Tongue thrusting...	ORPHA:3095
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Seizure, Bradykinesia, Hypertoni...	ORPHA:13
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Mitochondrial Complex I Deficiency, Nuclear Type 19	Rigidity, Inability to walk, Athetosis, Seizure, Gait disturbance, Myoclonus, Loss of ambulation	OMIM:618241
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Xeroderma Pigmentosum, Complementation Group G	Ataxia, Small for gestational age, Infantile spasms, Tremor, Spasticity	OMIM:278780
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp...	ORPHA:79230
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency...	ORPHA:254875
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral...	ORPHA:134
Rapid-Onset Dystonia-Parkinsonism	Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure, Dys...	ORPHA:71517
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Gaucher Disease, Perinatal Lethal	Akinesia, Opisthotonus, Seizure, Decreased body weight, Neonatal death, Hypokinesia	OMIM:608013
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness...	ORPHA:157941
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoclonus	ORPHA:139485
Ck Syndrome	Long toe, Hyperactivity, Epicanthus, Posteriorly rotated ears, Aggressive behavior, Almond-shaped...	ORPHA:251383
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Short fourth metatarsal, Short metacarpal, Highly arched eyebrow, Aggressive behav...	OMIM:600430
Ceroid Lipofuscinosis, Neuronal, 1	Seizure, Spasticity, Ataxia, Myoclonus	OMIM:256730
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, Seizure, Bilateral sensorineural hearing impa...	OMIM:619422
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia...	ORPHA:101330
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Hooded eyelid, Aggressive behavior, 2-3 toe syndactyly, Self-injurious behavior, S...	OMIM:619467
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia...	OMIM:615453
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Small for gestational age, Focal-onset seizure, ...	ORPHA:289266
Chromosome Xq13 Duplication Syndrome	Medial flaring of the eyebrow, Hyperactivity, Epicanthus, Posteriorly rotated ears, Highly arched...	OMIM:301069
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Chromosome Xq25 Duplication Syndrome	Hyperactivity, Epicanthus, Highly arched eyebrow, Sparse eyebrow, Seizure, Thick eyebrow	OMIM:300979
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Fatigable weakness of bulbar muscles, Dyspnea, Abnormal respiratory syst...	ORPHA:803
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa...	OMIM:607616
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperin...	OMIM:602579
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto...	OMIM:617282
Pontocerebellar Hypoplasia Type 4	Seizure, Hypertonia, Myoclonus	ORPHA:166063
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure, Complex febrile seizur...	ORPHA:363549
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Ptosis, Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykine...	ORPHA:70594
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:212140
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines	OMIM:301076
Childhood-Onset Spasticity With Hyperglycinemia	Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Babinski sign, Spastic diplegi...	ORPHA:401866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a...	OMIM:606612
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ...	OMIM:617350
Ataxia-Telangiectasia-Like Disorder	Ataxia, Hypergonadotropic hypogonadism, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myocl...	ORPHA:251347
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth	ORPHA:199276
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Infantile Dystonia-Parkinsonism	Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Hypokine...	ORPHA:238455
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Dysmetria, Spastic dysarth...	ORPHA:313772
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Babinski sign, Seizure, Gait disturbance, Myoclonus, Apraxia	OMIM:618193
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia, Failure to thrive	OMIM:250620
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st...	OMIM:615710
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Seiz...	ORPHA:442835
Fetal Akinesia Deformation Sequence	Cryptorchidism, Hypokinesia, Akinesia	ORPHA:994
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,...	ORPHA:171433
Acquired Aneurysmal Subarachnoid Hemorrhage	Addictive alcohol use, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypothyroidism	ORPHA:90065
Alexander Disease	Ataxia, Babinski sign, Dysmetria, Spasticity, Seizure, Palatal tremor	OMIM:203450
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci...	ORPHA:769
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Seizure, Self-injurious behavior, Low-set ears, Bruxism, Spasticity, Abnor...	OMIM:618718
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ...	OMIM:175700
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T...	ORPHA:91
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Fatigable w...	OMIM:616313
Hemimegalencephaly	Epileptic spasm, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, Status epileptic...	ORPHA:99802
Ck Syndrome	Hyperactivity, Epicanthus, Posteriorly rotated ears, Aggressive behavior, Almond-shaped palpebral...	OMIM:300831
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Ataxia, Babinski sign, Dysmetria, Seizure, Dysdiadochokinesis, Hypertonia, Myoclonus, Failure to ...	OMIM:618356
Valinemia	Failure to thrive, Hyperkinetic movements	OMIM:277100
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Status epilepticus, Myoclonus, Spasticity, Failure to thrive	OMIM:618201
Severe Canavan Disease	Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Seizure, Irritabili...	ORPHA:314911
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Limb myoclonus	OMIM:619862
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo...	OMIM:610539
Congenital Myopathy 12	Small for gestational age, Akinesia	OMIM:612540
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure, Ragged-red muscle fibers	OMIM:616794
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ...	OMIM:261680
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu...	OMIM:619013
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo...	OMIM:617836
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Thyrocerebrorenal Syndrome	Seizure, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia	ORPHA:3327
Intellectual Developmental Disorder, Autosomal Dominant 26	Hyperactivity, Cerebral palsy, Small for gestational age, Epicanthus, Highly arched eyebrow, Thic...	OMIM:615834
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Tetraplegia, Seizure, Hypertonia, Failure to thrive	OMIM:274270
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Dysmetria, Gait ataxia, Progressive cere...	ORPHA:254881
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Infantile spasms, Inability to walk, Synophrys, Low anterior hairline, Generalized non-motor (abs...	ORPHA:411986
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Tremor, Babinski sign, Spastic paraplegia, Seizure, Low-set ears, Febrile seizure (within the age...	ORPHA:477673
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Chorea, Abnormal pyramidal sign, Gait ...	ORPHA:500180
Developmental And Epileptic Encephalopathy 1	Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset seizure, Abnormal pyramidal si...	OMIM:308350
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non...	OMIM:300558
Rasmussen Subacute Encephalitis	Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo...	ORPHA:1929
Pontocerebellar Hypoplasia, Type 4	Seizure, Spasticity, Hypertonia, Myoclonus	OMIM:225753
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Bilateral Generalized Polymicrogyria	Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,...	ORPHA:208447
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Seizure, Athetosis...	OMIM:213600
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Chromosome Xq26.3 Duplication Syndrome	Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis...	OMIM:300942
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Pancre...	OMIM:609069
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Small for gestational age, Myoclonus	OMIM:619057
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki...	OMIM:615547
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Sei...	OMIM:261640
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Hand tremor, Blepharospasm, Bradykinesia, Shuffling gait, Difficulty walk...	ORPHA:53351
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ...	OMIM:620249
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme...	OMIM:183090
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Hyperactivity, Telecanthus, Cone-shaped epiphyses of the 3rd toe, Obesity, Blephar...	ORPHA:397973
Phosphoserine Aminotransferase Deficiency	Seizure, Hypertonia, Myoclonus	OMIM:610992
Developmental And Epileptic Encephalopathy 47	Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Focal-onset seizure, Li...	OMIM:617166
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia...	OMIM:617854
Hyperekplexia 4	Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly, Umbilical hernia	OMIM:618011
Jeavons Syndrome	Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua...	ORPHA:139431
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Seizure, Spastic gait	OMIM:600363
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Polymicrogyria, Bilateral Perisylvian, X-Linked	Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ...	OMIM:264470
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea	ORPHA:1832
Clark-Baraitser Syndrome	Hyperactivity, Epicanthus, Sandal gap, Aggressive behavior, Obesity, Upslanted palpebral fissure,...	OMIM:617752
Hyperekplexia 1	Exaggerated startle response, Hypokinesia, Seizure, Hypertonia, Myoclonus, Frequent falls, Noctur...	OMIM:149400
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98793
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo...	OMIM:617290
Mehmo Syndrome	Diabetes mellitus, Agitation, Obesity	ORPHA:85282
Developmental And Epileptic Encephalopathy 46	Generalized-onset seizure, Tremor, Seizure, Dysphagia, Failure to thrive, Limb hypertonia	OMIM:617162
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy...	ORPHA:90674
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia, Inappropriate laughter, Obesity	ORPHA:411515
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Hyperactivity, Incoordination, Abnormal pinna morphology, Ataxia, Small for gestat...	OMIM:614104
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral tonic-clonic seizure, Si...	ORPHA:352582
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98754
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ...	ORPHA:300536
Mehmo Syndrome	Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A...	OMIM:300148
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Epicanthus, Posteriorly rotated ears, Hemidystonia, Aggressive behav...	OMIM:619680
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177904
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreoathetosis,...	OMIM:618877
Cln5 Disease	Hyperactivity, Generalized-onset seizure, Abnormal central motor function, Ataxia, Aggressive beh...	ORPHA:228360
Idiopathic Camptocormia	Myositis, Fatigable weakness of skeletal muscles, Fatty replacement of skeletal muscle, Abnormal ...	ORPHA:1320
Cln3 Disease	Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Increased circu...	ORPHA:228346
Developmental And Epileptic Encephalopathy 41	Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Focal tonic seizure, Myocloni...	OMIM:617105
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex...	OMIM:214150
Gaucher Disease, Type Iii	Ataxia, Myoclonus, Decreased body weight, Generalized myoclonic seizure, Spastic paraparesis	OMIM:231000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177901
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Aggressive behavior, Tremor, Seizure, Progressive hearing impairment, Myoclonus...	ORPHA:97229
Cataract-Ataxia-Deafness Syndrome	Ataxia, Tremor, Sensorineural hearing impairment, Hypertonia, Adult onset sensorineural hearing i...	ORPHA:1368
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a...	OMIM:227810
Myasthenic Syndrome, Congenital, 12	Fatigable weakness, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Bilateral tonic-clonic seizure	OMIM:104290
Crigler-Najjar Syndrome Type 1	Tremor, Seizure, Hearing impairment	ORPHA:79234
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract...	OMIM:616867
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficien...	OMIM:245400
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus,...	OMIM:619913
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex...	ORPHA:905
Pontocerebellar Hypoplasia, Type 1E	Myoclonus	OMIM:619303
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Fai...	ORPHA:3008
Peho-Like Syndrome	Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus	OMIM:617507
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Seizure, Spasticity, Ataxia, Myoclonus	OMIM:620094
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat...	OMIM:606159
Gand Syndrome	Long toe, Hyperactivity, Long fingers, Narrow palpebral fissure, Tics, Inappropriate laughter, Bl...	OMIM:615074
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Very long c...	ORPHA:98908
Proximal 16P11.2 Microduplication Syndrome	Sparse eyelashes, Arachnodactyly, Tremor, Sparse eyebrow, Seizure, Microtia, Attention deficit hy...	ORPHA:370079
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno...	ORPHA:525731
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention deficit hyperactivit...	ORPHA:210548
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Epicanthus, Highly arched eyebrow, Aggressive behavior, Tremor, Sensorineural hear...	OMIM:618342
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Short palm, Ataxia, Tremor, Sensorineural hearing impairment, Small hand, Dysmetria, Gait ataxia,...	OMIM:610185
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Babin...	OMIM:615157
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Apraxia, Resting tremor, Ataxia, Parkinsonism, Dystonia, Tremor, Babinski sign, Spa...	OMIM:300055
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Seizure, Spastic par...	ORPHA:329284
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu...	OMIM:608931
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c...	OMIM:615830
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T...	OMIM:137440
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein...	OMIM:251880
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Seizure, Akinesia	OMIM:225790
Hereditary Hyperekplexia	Ataxia, Rigidity, Seizure, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity	ORPHA:3197
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea, Dystonia	OMIM:616277
Myasthenic Syndrome, Congenital, 3B, Fast-Channel	Fatigable weakness, Facial palsy, Respiratory insufficiency	OMIM:616322
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ataxia, Myoclonic seizure, Seizure, Myoclonus, Spasticity	OMIM:618225
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Neuropathy, Congenital Hypomyelinating, 2	Inability to walk, Hypokinesia	OMIM:618184
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Hyperactivity, Aggressive behavior, Anteverted ears, Synophrys, Macrotia, Abnormal...	OMIM:615541
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Small for gestational age, Elevated circulating aspartate aminotransferase concentr...	OMIM:617093
Thyrocerebroretinal Syndrome	Seizure, Slurred speech, Ataxia, Myoclonus	OMIM:274240
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste...	ORPHA:71
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Myoclonus, Intractable, Neonatal	Athetosis, Chorea, Myoclonus, Clonic seizure	OMIM:617235
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Small for gestational age, Hypokinesia	OMIM:610498
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Obesity, Absen...	ORPHA:398079
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Diaphragmatic eventration, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the d...	OMIM:604320
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Choreoathetosis, Seizure, Myoclonus, Episodic ataxia	OMIM:312170
Syngap1-Related Developmental And Epileptic Encephalopathy	Generalized-onset seizure, Ataxia, Postaxial polydactyly, Abnormal eating behavior, Anteverted ea...	ORPHA:544254
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Sandal gap, Highly arched eyebrow, Synophrys, Polyphagia, Seizure, Self-in...	ORPHA:228402
Glycosylphosphatidylinositol Biosynthesis Defect 15	Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Dysmetria, Myocl...	OMIM:617810
Dystonia 12	Torticollis, Dystonia, Parkinsonism, Tremor, Bradykinesia, Dysphagia	OMIM:128235
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia	ORPHA:391673
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency	Fatigable weakness, Facial palsy, Respiratory insufficiency	OMIM:616325
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Babinski sign, Hypokinesia	OMIM:619063
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li...	ORPHA:440713
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Small for gestational age, Clonus, Cryptorchidism, Babinski sign, Spastic tetrapl...	OMIM:619847
Combined Oxidative Phosphorylation Deficiency 1	Seizure, Spasticity, Hypertonia, Hypokinesia	OMIM:609060
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa...	ORPHA:263501
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Seizure, Gait disturbance, Myoclonus, Abnormality of extrapy...	OMIM:607822
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Falls, Gait imba...	OMIM:609454
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Vocal tremor	ORPHA:420485
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Pyridoxal Phosphate-Responsive Seizures	Unsteady gait, Seizure, Hypertonia, Status epilepticus, Myoclonus, Failure to thrive	ORPHA:79096
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior, Inabi...	ORPHA:168491
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
4Q21 Microdeletion Syndrome	Ptosis, Toe syndactyly, Tremor, Synophrys, Small hand, Short foot, Seizure, Self-injurious behavi...	ORPHA:238750
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Central hypothyroidism, Wei...	ORPHA:95427
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, ...	ORPHA:819
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating growth hormone conc...	ORPHA:90301
Whipple Disease	Hyponatremia, Hepatomegaly, Anorexia, Cachexia, Splenomegaly, Insulin resistance, Polydipsia, Hyp...	ORPHA:3452
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre...	OMIM:261750
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Status epilepticus, Spasticity, Intent...	OMIM:614307
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bilateral tonic-clonic seizure, Impaired tandem gait, Bradykinesia, Seizure, Falls, Gait disturbance	OMIM:300423
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ...	OMIM:614450
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Absent brainstem auditory responses, Generalized dystonia, Dystonia...	ORPHA:52368
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur...	ORPHA:99885
Hypermanganesemia With Dystonia 2	Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor gait, Opisthotonus, Clumsiness, A...	OMIM:617013
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus...	OMIM:168601
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,...	OMIM:619418
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Hypoalbuminemia, Adrenal insufficiency, Hypothy...	OMIM:617575
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture	OMIM:313420
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Hyperhid...	ORPHA:33543
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Hyperactivity, Epicanthus, Postaxial polydactyly, Aggressive behavior, Sensorineural hearing impa...	OMIM:615824
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Synophrys, Seizure, Truncal obesity, Bruxism, Recurrent hand flapping, Slender finger	OMIM:613192
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dysdiadochokinesis, Ptosis	OMIM:614831
Benign Familial Neonatal-Infantile Seizures	Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Episodic ataxia, Neonatal se...	ORPHA:140927
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ataxia, Babinski sign, Seizure, Myoclonus, Truncal ataxia, Spasticity	OMIM:252011
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait...	ORPHA:282166
Bardet-Biedl Syndrome 19	Hepatic steatosis, Hypogonadism, Obesity	OMIM:615996
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,...	OMIM:617145
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Large fleshy ears, Seizure, Hypertonia, Attention deficit hyperactivity disorder,...	OMIM:619556
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
Radio-Tartaglia Syndrome	Tremor, Synophrys, Conductive hearing impairment, Abnormal repetitive mannerisms, Ataxia, Highly ...	OMIM:619312
Sarcosinemia	Emotional lability, Ataxia, Bilateral tonic-clonic seizure	ORPHA:3129
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Cachexia, Chorea, Seizure, Athetosis, Hypertonia, Dystonia, Self-mutilatio...	ORPHA:52503
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Bilateral tonic-clonic seizure, Tremor, Blepharospasm, Myoclonus	OMIM:607876
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Seizur...	OMIM:618060
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset...	OMIM:618067
Dystonia 34, Myoclonic	Torticollis, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor	OMIM:619724
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Oxoglutarate Dehydrogenase Deficiency	Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls	OMIM:203740
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Infertility, Oligomenorrhea, Hirsutism	OMIM:604931
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Magel2-Related Prader-Willi-Like Syndrome	Hypothalamic luteinizing hormone-releasing hormone deficiency, Impulsivity, Precocious puberty, F...	ORPHA:398069
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Epileptic spasm, Failure to thrive, Myoclonus, Decreased body weight	OMIM:619060
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Uplifted earlobe, Impulsivity, Synophrys, Upslanted palpebral fissure, Seizure	OMIM:300143
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo...	ORPHA:204
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil...	ORPHA:890
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Strid...	OMIM:606071
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Hepatic steatosis, Decreased liver function, Dysphagia	ORPHA:70472
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset...	OMIM:610042
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Flexion contracture, Respiratory insufficiency, Facial diplegia, Respirat...	OMIM:618186
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, Seizure, Failure to thrive, Myoclonus	OMIM:300673
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Clonic seizur...	OMIM:618012
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Gait disturbance, Myoclonus	OMIM:600795
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity	ORPHA:96168
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Poor fine motor coordination, Seizure, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Steppage gait, Hypertonia, Myoclonus, Inte...	OMIM:616505
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Elevated circulati...	ORPHA:99901
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Gait imbalance, Re...	OMIM:601104
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Hyperactivity, Precocious puberty, Hyperlipidemia, Obesity, Self-injurious beh...	ORPHA:254346
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Parkinsonism-Dystonia 3, Childhood-Onset	Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperkinetic mov...	OMIM:619738
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Ptosis, Dystonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal ...	OMIM:607483
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ...	ORPHA:508
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dysphagia, Limb hyp...	OMIM:233910
Gaisböck Syndrome	Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc...	ORPHA:90041
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ...	OMIM:277700
Dpagt1-Cdg	Epileptic spasm, Ataxia, Akinesia, Tremor, Inability to walk, Focal motor seizure, Seizure, Hyper...	ORPHA:86309
Developmental And Epileptic Encephalopathy 102	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F...	OMIM:619881
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Myoclonic-Astatic Epilepsy	Syndactyly, Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset...	ORPHA:1942
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu...	OMIM:301045
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia, Pt...	OMIM:618049
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Epicanthus, Aggressive behavior, 2-3 toe cutaneous syndactyly, Poor coordination, ...	OMIM:620242
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Sandal gap, Aggressive behavior, Seizure, Febrile seizure (within the age range of...	OMIM:615516
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Bilateral tonic-clonic seizure, Tremor, Overweight, Seizure, Hip dysplasia, Hyperkinetic movement...	ORPHA:457240
Wiedemann-Steiner Syndrome	Synophrys, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, Hyperactivity, B...	OMIM:605130
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Multiple joint contractures, Hypergonado...	ORPHA:2959
Pontocerebellar Hypoplasia, Type 2E	Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Tonic seizure, Spastic t...	OMIM:615851
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat...	ORPHA:3191
Narp Syndrome	Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Myoclonic spasms	ORPHA:644
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Tongue fasciculations, Hypokinesia, Clumsiness	OMIM:614707
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Epicanthus, Posteriorly rotated ears, Ataxia, Sandal gap, Aggressive behavior, Tap...	OMIM:618430
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Mepan Syndrome	Ataxia, Chorea, Gait disturbance, Myoclonus, Spasticity, Failure to thrive	ORPHA:508093
Rett Syndrome	Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Failu...	ORPHA:778
Atypical Werner Syndrome	Hepatic steatosis, Failure to thrive, Diabetes mellitus, Lipoatrophy, Hypertriglyceridemia, Abnor...	ORPHA:79474
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Tapered finger, Synoph...	OMIM:616977
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Aggressive behavior, Seizure, Spasticity, Hearing impairment	ORPHA:457260
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Hyperhid...	ORPHA:813
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty	ORPHA:90154
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re...	ORPHA:352447
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth retardation, EMG: my...	OMIM:620326
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Diabetes mellitus, Decreased serum iron, Overweight, Repetitive compulsive behavior, Flexion cont...	ORPHA:391372
Neurodevelopmental Disorder With Involuntary Movements	Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms, Chorea, Athetosis, Hyper...	OMIM:617493
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Aggressive behavior, Tonic ...	OMIM:619580
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip...	OMIM:616541
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Oculopharyngodistal Myopathy 3	Ataxia, Tremor, Sensorineural hearing impairment, Dysphagia, Conductive hearing impairment, Ptosis	OMIM:619473
Aminoacylase 1 Deficiency	Seizure, Hyperactivity, Bilateral tonic-clonic seizure, Sensorineural hearing impairment	OMIM:609924
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Seizure, Gait disturbance, Myoclonus, Apraxia, Spasticity	OMIM:221770
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with...	ORPHA:163681
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Tremor, Sensorineural hearing impairment, S...	OMIM:300957
Developmental And Epileptic Encephalopathy 28	Rigidity, Seizure, Status epilepticus, Spasticity, Hypokinesia	OMIM:616211
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood urea nitro...	ORPHA:251004
Kohlschutter-Tonz Syndrome	Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure	OMIM:226750
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin...	OMIM:614498
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl...	OMIM:620352
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl...	OMIM:614921
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Epileptic spasm, Failure to thrive in infancy, Spastic tetraparesis, Seizure, Hypertonia, Myoclonus	ORPHA:284417
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	ORPHA:79303
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypera...	OMIM:201475
Rubinstein-Taybi Syndrome 2	Syndactyly, Hyperactivity, Epicanthus, Posteriorly rotated ears, Broad hallux, Highly arched eyeb...	OMIM:613684
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Hearing impairment	ORPHA:101075
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi...	OMIM:614736
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Seizure, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:604218
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly	OMIM:613101
Progressive Supranuclear Palsy	Impulsivity, Unsteady gait, Depression, Bradykinesia, Abnormal synaptic transmission, Dementia, F...	ORPHA:683
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du...	OMIM:618291
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Werner Syndrome	Lipoatrophy, Lipodystrophy, Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes...	ORPHA:902
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Posteriorly rotated ears, Sandal gap, Tapered finger, Small hand, Obesity, Short f...	OMIM:618089
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hepatocellular carcinoma, Hy...	ORPHA:79259
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Hepatic steatosis, Hypoketoti...	OMIM:231530
Baker-Gordon Syndrome	Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Atheto...	OMIM:618218
Cystathioninuria	External ear malformation, Seizure, Tremor	ORPHA:212
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac...	ORPHA:298
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Rotor Syndrome	Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he...	ORPHA:3111
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Microcephaly, Amish Type	Failure to thrive, Myoclonus, Limb hypertonia	OMIM:607196
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Head titubation, Spastic parapleg...	OMIM:312080
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years)	OMIM:300454
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Respiratory failure, Arthrogryposis multiplex congenita, Respira...	OMIM:615330
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Seizure, Ankle clon...	ORPHA:363654
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Aggressive behavior, Seizure, Decreased body weight, Spasticity, Hearing impairment	OMIM:300958
Mitochondrial Dna Depletion Syndrome 19	Infantile spasms, Focal-onset seizure, Hydrocele testis, Tetraparesis, Myoclonus, Spasticity	OMIM:618972
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Epicanthus, Toe syndactyly, Sandal gap, Cachexia, Aggressive behavior, Tremor, Cam...	ORPHA:85293
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Multiple Mitochondrial Dysfunctions Syndrome 1	Failure to thrive, Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrap...	OMIM:605711
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Hyperactivity, Aggressive behavior, Abnormal pyramidal sign, Tetraplegia, Failure to thrive, Hear...	ORPHA:369939
African Trypanosomiasis	Alopecia, Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Tremor, Ab...	ORPHA:3385
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity	ORPHA:2377
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ...	OMIM:176270
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contract...	OMIM:616263
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Ptosis, Tremor, Babinski sign, Slurred speech, Clumsiness, Poor fine motor coordi...	ORPHA:137898
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Infantile spasms, Tonic seizure, Absent thumb, Seizure, Failure to thrive	OMIM:619239
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Tremor, Synophrys, Compulsive behaviors, Clinodactyly of the 5th finger, Abnormal repetitive mann...	OMIM:617061
16P12.1P12.3 Triplication Syndrome	Unilateral ptosis, Nail-biting, Hyperactivity, Epicanthus, Thick eyebrow, Prominent fingertip pad...	ORPHA:485405
Myopathy With Extrapyramidal Signs	Hyperactivity, Epicanthus, Ataxia, Clonus, Tremor, Chorea, Clumsiness, Choreoathetosis, Seizure, ...	OMIM:615673
Gitelman Syndrome	Maternal diabetes, Hyperhidrosis, Glucose intolerance, Hypocalcemia, Hashimoto thyroiditis, Salt ...	ORPHA:358
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Pontocerebellar Hypoplasia, Type 7	Ataxia, Cryptorchidism, Synophrys, Spastic paraplegia, Opisthotonus, Choreoathetosis, Seizure, Hy...	OMIM:614969
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Frontal hirsutism, Spastici...	OMIM:612949
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Tremor, Neuromuscu...	ORPHA:206443
Congenital Neuronal Ceroid Lipofuscinosis	Agenesis of corpus callosum, Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Epicanthus, Aggressive behavior, Synophrys, 2-3...	ORPHA:3306
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Congenital lary...	ORPHA:2254
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Skeletal muscle atrophy, Abnormality of skeletal muscle f...	OMIM:620278
Nipah Virus Disease	Anorexia, Tremor, Vertigo, Seizure, Myoclonus	ORPHA:99825
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc...	ORPHA:158057
Schindler Disease, Type I	Seizure, Spasticity, Myoclonus	OMIM:609241
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Hypertriglyceridemia	OMIM:620282
48,Xxyy Syndrome	Epicanthus, Ataxia, Blepharophimosis, Tremor, Obesity, Upslanted palpebral fissure, Seizure, Abno...	ORPHA:10
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas...	OMIM:256810
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large...	OMIM:616026
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Broad-based gait, Seizure, Myoclonus	OMIM:616158
Chromosome 22Q13 Duplication Syndrome	Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ...	OMIM:615538
Lafora Disease	Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generali...	ORPHA:501
Snakebite Envenomation	Epistaxis, Erythema, Rhabdomyolysis, Respiratory failure, Respiratory paralysis, Muscle fiber nec...	ORPHA:449285
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Epicanthus, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Sei...	OMIM:618056
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress...	OMIM:612953
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis	OMIM:201450
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Hearing impairment	ORPHA:101078
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl...	ORPHA:466722
Mohr-Tranebjaerg Syndrome	Dystonia, Tremor, Postlingual sensorineural hearing impairment, Dysphagia, Progressive sensorineu...	OMIM:304700
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Epicanthus, Aggressive behavior, Tremor, Unilateral radial aplasia, Synophrys, Congen...	ORPHA:476126
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia...	ORPHA:93111
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia	OMIM:617916
Intellectual Developmental Disorder, X-Linked 98	Self-biting, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Hyperactivity, Ataxi...	OMIM:300912
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Spastic paraparesis, Palatal tremor, Truncal ataxia	OMIM:113610
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F...	OMIM:617591
Developmental And Epileptic Encephalopathy 4	Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,...	OMIM:612164
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
Muscular Dystrophy, Duchenne Type	Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,...	OMIM:310200
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru...	ORPHA:541423
Spinocerebellar Ataxia Type 13	Torticollis, Limb ataxia, Titubation, Clumsiness, Gait ataxia, Seizure, Bradykinesia, Myoclonus, ...	ORPHA:98768
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Congenital hypothyroidism	ORPHA:88643
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Adult-Onset Cervical Dystonia, Dyt23 Type	Torticollis, Unsteady gait, Limb tremor, Myoclonus, Difficulty walking, Head tremor	ORPHA:420492
Arthrogryposis Multiplex Congenita 5	Hypertonia, Akinesia, Hand tremor	OMIM:618947
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
D-Glyceric Aciduria	Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Focal clonic seizure,...	OMIM:220120
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t...	ORPHA:2126
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hepatic failure	OMIM:177000
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Diminished movement, Babinski sign, Limb tremor, Chore...	OMIM:608643
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu...	ORPHA:70
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi...	OMIM:300623
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Seizure, Myoclonus, G...	OMIM:616640
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Postural tremor, Abnormality of masticatory muscle, Respiratory failure,...	ORPHA:98755
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus	ORPHA:31825
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Hyperhomocystinemia, Disproportionate tall stature, Hypermethioninemia, Failure ...	OMIM:236200
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Seizure, Downslanted palpebr...	OMIM:610883
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Juvenile Sialidosis Type 2	Lower limb spasticity, Ataxia, Generalized myoclonic seizure, Dysmetria, Seizure, Myoclonus, Gene...	ORPHA:93399
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H...	ORPHA:348
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Long toe, Lower limb spasticity, Hyperactivity, Epicanthus, Long fingers, Generalized non-motor (...	ORPHA:363686
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development	OMIM:610628
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl...	OMIM:307030
Sneddon Syndrome	Tremor, Vertigo, Chorea, Hemiparesis, Seizure	ORPHA:820
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinsonism with favorable re...	ORPHA:240085
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Dyspnea, Rhabdomyolysis, Cardiorespiratory arrest, Res...	ORPHA:26791
Pyruvate Dehydrogenase Deficiency	Epicanthus, Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the mi...	ORPHA:765
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia	OMIM:612126
Lamb-Shaffer Syndrome	Hyperactivity, Epicanthus, Ataxia, Seizure, Hip dysplasia, Abnormal temper tantrums, Abnormal rep...	ORPHA:530983
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor fun...	ORPHA:79279
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Infantile spasms, Spastic tetraparesis, Abnormal hair whorl, Seizure, ...	OMIM:614261
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,...	OMIM:209900
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Restlessness, Hyperactivity, Incoordination, Ataxia, Ptosis, Hearing impairment, Aggressive behav...	ORPHA:369891
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Alexander Disease Type Ii	Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor	ORPHA:363722
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, ...	OMIM:619854
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure	ORPHA:53583
Dystonia 26, Myoclonic	Blepharospasm, Torticollis, Myoclonus	OMIM:616398
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:96182
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ...	OMIM:608836
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Thick eyebrow, Ataxia, Generalized clonic seizure, Tremor, Inability to wa...	OMIM:619229
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H...	ORPHA:470
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
4H Leukodystrophy	Dystonia, Ataxia, Tremor, Dysmetria, Seizure, Progressive gait ataxia, Dysdiadochokinesis, Abnorm...	ORPHA:289494
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Sensorineural hearing impairment, Decreased body weight, Clinodactyly of the 5th f...	OMIM:608747
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate...	OMIM:603233
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic...	OMIM:617156
Juvenile Neuronal Ceroid Lipofuscinosis	Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Clumsiness, Poor fine moto...	ORPHA:79264
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor, Sensorineural hearing impairment	ORPHA:66633
H Syndrome	Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Hepatosplenomegaly, Hypogonadism, Hernia,...	ORPHA:168569
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks	ORPHA:2898
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Foot dorsiflexor weakness, Hypercapnia, Hypoplasia of the musculature, Fatigable...	ORPHA:2020
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go...	OMIM:210740
Cog8-Cdg	Seizure, Failure to thrive, Ataxia, Myoclonus	ORPHA:95428
Combined Oxidative Phosphorylation Deficiency 27	Bilateral tonic-clonic seizure, Chorea, Opisthotonus, Status epilepticus, Myoclonus, Tetraparesis...	OMIM:616672
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Abnormal pinna morphology, Sandal gap, Aggressive behavior, Tremor, Small hand, Ga...	OMIM:300354
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,...	ORPHA:171430
Intellectual Developmental Disorder, Autosomal Dominant 29	Ptosis, Hyperactivity, Generalized-onset seizure, Broad hallux, Sandal gap, Aggressive behavior, ...	OMIM:616078
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Luscan-Lumish Syndrome	Overgrowth, Polyphagia, Obesity, Aggressive behavior	OMIM:616831
Neurodevelopmental Disorder With Spasticity And Poor Growth	Ataxia, Clonus, Infantile spasms, Synophrys, Babinski sign, Myoclonic seizure, Opisthotonus, Seiz...	OMIM:618076
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Alg11-Cdg	Ataxia, Opisthotonus, Seizure, Hypertonia, Failure to thrive, Hypokinesia, Limb hypertonia	ORPHA:280071
Man1B1-Cdg	Truncal obesity, Polyphagia	ORPHA:397941
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure, Dysphagia, Spasticity	OMIM:607694
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,...	ORPHA:139396
Posttransplant Acute Limbic Encephalitis	Seizure, Ataxia, Myoclonus	ORPHA:163921
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria	OMIM:619780
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyperactivity, Epicanthus, Aggressive behavior, Tonic seizure, Sparse eyebrow, Sensorineural hear...	OMIM:620075
Angelman Syndrome	Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel...	ORPHA:72
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hypertonia, Myoclonus, Myoclonic seizure	OMIM:618240
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s...	ORPHA:98795
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Punding, Attention deficit h...	ORPHA:64280
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Adrenomyodystrophy	Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency	ORPHA:977
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Intellectual Disability, Birk-Barel Type	Hyperactivity, Highly arched eyebrow, Fatigable weakness of skeletal muscles, Fatiguable weakness...	ORPHA:166108
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Portal hypert...	OMIM:619487
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Hypopigmentation of hair, Ataxia, Tremor, Obesity, Seizure, Gait imbalance, Myo...	ORPHA:98794
Cri-Du-Chat Syndrome	Syndactyly, Hyperactivity, Epicanthus, Abnormal pinna morphology, Small for gestational age, Hear...	OMIM:123450
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Seizure, Hyperkinetic movements	ORPHA:397933
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Sensorineural hearing impairment, Babinski sign, Hand tremor...	OMIM:302800
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul...	OMIM:603553
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He...	ORPHA:699
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism	OMIM:614613
Parkinsonian-Pyramidal Syndrome	Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Shufflin...	ORPHA:171695
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Dystonia	OMIM:256000
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Seizure, Hypertonia, Gait disturbance, Hyperkinetic movements, Failure to thrive	OMIM:236270
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, B...	OMIM:618329
13Q12.3 Microdeletion Syndrome	Hyperactivity, Obesity, Upper eyelid edema, Hip dysplasia, Camptodactyly, Chronic otitis media, F...	ORPHA:412035
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Failure to thrive, Brachydactyly, Aggressive behavior, Tonic seizure...	OMIM:300534
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Myopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy, Opisthotonus	OMIM:610678
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance...	OMIM:615630
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
19P13.3 Microduplication Syndrome	Hyperactivity, Epicanthus, Posteriorly rotated ears, Telecanthus, Long fingers, Clinodactyly, Hip...	ORPHA:447980
Idiopathic Neonatal Atrial Flutter	Maternal diabetes, Large for gestational age	ORPHA:45452
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...	OMIM:605373
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati...	OMIM:277900
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Seizure, Dystonia, Spasticity	ORPHA:542310
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Camptodactyly of finger, Flexion contracture, Respiratory failure, Intrauterine...	ORPHA:1194
Developmental And Epileptic Encephalopathy 72	Inability to walk, Hyperkinetic movements, Infantile spasms	OMIM:618374
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Poliomyelitis	Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Hypoplasia of the mu...	ORPHA:2912
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary ...	OMIM:600001
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio...	OMIM:231680
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea...	ORPHA:746
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia	ORPHA:1020
Adenylosuccinase Deficiency	Inability to walk, Opisthotonus, Gait ataxia, Seizure, Myoclonus, Hemiplegia, Spasticity	OMIM:103050
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Classic Phenylketonuria	Tremor, Paraplegia, Seizure, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity...	ORPHA:79254
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Repetitive compulsive behavior, Microvesicular hepatic steatosis, ...	ORPHA:66634
X-Linked Intellectual Disability Due To Gria3 Mutations	Bilateral tonic-clonic seizure, Cryptorchidism, Babinski sign, Seizure, Status epilepticus, Myocl...	ORPHA:364028
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Failure to thrive, Hypert...	OMIM:256040
Congenital Disorder Of Glycosylation, Type Iu	Seizure, Hypokinesia	OMIM:615042
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia	OMIM:618398
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Multifocal seizures, Severe temper tantrums, Ataxia, Aggressive behavior, Tremor, Spastic tetrapl...	OMIM:617710
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia, Hearing impairment	ORPHA:99014
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus	OMIM:614618
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Sialidosis Type 1	Ataxia, Tremor, Slurred speech, Seizure, Gait disturbance, Myoclonus	ORPHA:812
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia...	OMIM:610217
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Vocal cord paresis	OMIM:619574
Pancreatic Agenesis 1	Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff...	OMIM:260370
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Facial-lingual fasci...	OMIM:617281
X-Linked Adrenoleukodystrophy	Hyperactivity, Incoordination, Aggressive behavior, Paralysis, Paraparesis, Progressive spastic p...	ORPHA:43
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Skeletal muscle atrophy, Tremor, Respiratory insufficienc...	OMIM:615512
Gerstmann-Straussler-Scheinker Syndrome	Limb myoclonus, Abnormality of extrapyramidal motor function, Gait ataxia	ORPHA:356
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Epicanthus, Telecanthus, Highly arched eyebrow, Aggressive behav...	OMIM:619695
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Dysphagia, Choreoathetosis, Seizure, Dystonia, Spasticity, Ptosis	OMIM:617664
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Ocul...	ORPHA:529665
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Hypergonadotropic hypogonadism, Tremor, Seizure, Status epilepticus, Myoclonus, Loss of a...	OMIM:607426
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev...	OMIM:615486
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Anorexi...	ORPHA:20
Combined Oxidative Phosphorylation Deficiency 57	Neonatal death, Seizure, Small for gestational age, Myoclonus	OMIM:620167
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Tremor, Inability to walk, Typical absence seizure,...	ORPHA:845
Optic Atrophy 11	Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Seizure, Athetosis, Stereotypical body rocking, H...	OMIM:617302
Ataxia-Telangiectasia	Ataxia, Female hypogonadism, Tremor, Inability to walk, Abnormal hair morphology, Slurred speech,...	OMIM:208900
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Neuhauser Syndrome	Hypercholesterolemia, Primary hypothyroidism, Dysphagia	OMIM:249310
Fragile X Syndrome	Hyperactivity, Self-biting, Seizure, Recurrent hand flapping, Macrotia, Metacarpophalangeal joint...	OMIM:300624
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism, A...	OMIM:212065
Spastic Paraplegia 29, Autosomal Dominant	Lower limb spasticity, Hyperactivity, Clonus, Sensorineural hearing impairment, Spastic paraplegi...	OMIM:609727
Early-Onset Lafora Body Disease	Seizure, Ataxia, Myoclonus, Spastic tetraparesis	ORPHA:324290
Developmental And Epileptic Encephalopathy 101	Seizure, Myoclonus, Opisthotonus	OMIM:619814
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Oculopharyngodistal Myopathy 4	Tremor, Ptosis, Postural tremor, Dysphagia	OMIM:619790
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Redundant skin, Congenital diaphragmatic hernia	ORPHA:171719
Infantile Krabbe Disease	Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Seizure, Myoclonus...	ORPHA:206436
Fatal Familial Insomnia	Ataxia, Myoclonus, Weight loss	OMIM:600072
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Overlapping toe, Highly arched eyebrow, Tremor, Downslanted palpebral fissures, Ptosis	ORPHA:457365
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Seizure, Hypertonia, Myoclonus, Spasticity	ORPHA:3078
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Pallor, Cough	ORPHA:99931
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Flexion contracture, Hyperlipidemia	ORPHA:90153
Intellectual Disability-Strabismus Syndrome	Hyperactivity, Failure to thrive, Epicanthus, Telecanthus, Impulsivity, Aggressive behavior, High...	ORPHA:363528
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Ataxia, Myoclonus	OMIM:560000
D-Glyceric Aciduria	Seizure, Chorea, Myoclonus, Spasticity	ORPHA:941
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
3-Methylglutaconic Aciduria Type 7	Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, Hypertonia, Abnormal...	ORPHA:445038
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl...	ORPHA:77293
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Stereotypical body rocking,...	OMIM:617865
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Petechiae, Purpura	OMIM:620296
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Contracture of the proximal interphalangeal join...	OMIM:620141
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Dysphagia, Spastic gait	OMIM:616795
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon...	ORPHA:309155
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Tremor, Myelopathy, Cervical myelopathy, Bradypnea, Respiratory failure, Death in ch...	OMIM:617186
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Rigidity, Choreoathetosis, Self-injurious behavior, Hypertonia	OMIM:620023
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Amyloidosis, Hereditary, Transthyretin-Related	Ptosis, Ataxia, Tremor, Sensorineural hearing impairment, Abnormal pyramidal sign, Paraplegia, Li...	OMIM:105210
Migraine, Familial Hemiplegic, 2	Bilateral tonic-clonic seizure, Tremor, Vertigo, Focal motor seizure, Dysmetria, Gait ataxia, Hem...	OMIM:602481
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph...	OMIM:128100
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Respiratory failure, Intrauterine g...	OMIM:620327
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Wide pubic symphysis, ...	ORPHA:239
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure	ORPHA:156
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Early Infantile Epileptic Encephalopathy	Tremor, Choreoathetosis, Hyperactivity, Seizure, Myoclonus, Episodic ataxia, Febrile seizure (wit...	ORPHA:1934
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity...	OMIM:612462
Immunodeficiency 54	Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency	OMIM:609981
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure	OMIM:620166
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen...	ORPHA:226313
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul...	ORPHA:540
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Skeletal muscle atrophy, Apnea, Facial palsy, Fatigable weakness, Stridor, Arthr...	OMIM:617143
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Bilateral tonic-clonic seizure, Abnormal circulating renin, Athetosis, Seizu...	ORPHA:369929
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Depression, Attention deficit hyperac...	ORPHA:98784
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia, Cutis laxa	OMIM:614100
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Hypothyroidism, Hypercholesterolemia	ORPHA:2479
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus, N...	OMIM:619055
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Hypercholesterolemia, Obesity, Male hypogonadism, Pancreatitis	OMIM:619471
Neuraminidase Deficiency	Seizure, Slurred speech, Myoclonus, Dysmetria	OMIM:256550
Wolfram Syndrome 1	Ataxia, Tremor, Sensorineural hearing impairment, Limited mobility of proximal interphalangeal jo...	OMIM:222300
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, At...	ORPHA:2131
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ...	ORPHA:199351
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance	OMIM:619322
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets...	OMIM:220111
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose...	OMIM:219090
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty	ORPHA:141333
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia	OMIM:611126
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Aggressive behavior, Synophrys, Seizure, Hearing impairment	OMIM:252920
7Q31 Microdeletion Syndrome	Speech apraxia, Prominent fingertip pads, Hyperactivity, Torticollis, Epicanthus, Short palpebral...	ORPHA:251061
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Seizure, Bilateral sensorineural hearing impairment, Dysphagia	ORPHA:397744
Bachmann-Bupp Syndrome	Hypoglycemia, Large for gestational age, Aggressive behavior, Hyperbilirubinemia, Attention defic...	OMIM:619075
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive...	ORPHA:97355
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Attention deficit hyperactivity disorder, Increased body weight, Impulsivity	ORPHA:589905
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hormone level, Hyp...	ORPHA:79445
Metatropic Dysplasia	Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi...	OMIM:156530
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome...	ORPHA:365
48,Xxxy Syndrome	Epicanthus, Down-sloping shoulders, Blepharophimosis, Tremor, Coxa valga, Hip dislocation, Obesit...	ORPHA:96263
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Neuroferritinopathy	Resting tremor, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blepharospasm, Bradyk...	ORPHA:157846
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat...	OMIM:229600
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Generalized-onset seizure, Loss of ability to walk in early childhood, Small for gestational age,...	OMIM:612073
Bloom Syndrome	Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ...	ORPHA:125
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ...	ORPHA:536532
Chromosome 10Q26 Deletion Syndrome	Hyperactivity, Epicanthus, Small for gestational age, Congenital hip dislocation, Toe syndactyly,...	OMIM:609625
Jaberi-Elahi Syndrome	Appendicular spasticity, Bilateral tonic-clonic seizure, Sparse eyelashes, Tremor, Sparse eyebrow...	OMIM:617988
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Hyperactivity, Failure to thrive in infancy, Almond-sha...	ORPHA:261323
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Aggressive beh...	ORPHA:17
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Tremor, Opisthotonus, Choreoathetosis, Seizure, Hyperkinetic movements, Myoclonus, Spasti...	OMIM:616271
German Syndrome	Cryptorchidism, Synophrys, Abnormal eyebrow morphology, Hypokinesia	ORPHA:2077
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Myoclonus, Weight loss	OMIM:256700
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo...	ORPHA:273
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir...	ORPHA:258
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Obesity	OMIM:614651
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Apnea, Flexion contracture, Elbow flexion contract...	OMIM:617301
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my...	OMIM:613839
Typical Nemaline Myopathy	Waddling gait, Fatigable weakness of distal limb muscles, Fatiguable weakness of proximal limb mu...	ORPHA:171436
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus	OMIM:614619
Pure Autonomic Failure	Abnormality of circulating catecholamine level	ORPHA:441
Developmental And Epileptic Encephalopathy 2	Multifocal seizures, Generalized-onset seizure, Infantile spasms, Inability to walk, Seizure, Myo...	OMIM:300672
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Microtriplication 11Q24.1	Hyperlipidemia, Obesity, Bruxism	ORPHA:289522
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating aspartate aminotransfer...	OMIM:610198
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Failure to thrive, Hepati...	ORPHA:14
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right ventricular...	ORPHA:444013
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Redundant skin, Respiratory failure, Palmoplantar cutis laxa...	OMIM:616482
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx, Tituba...	ORPHA:280210
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cryptorchidism, Myoclonus	ORPHA:168593
Scorpion Envenomation	Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circula...	ORPHA:466677
Leukodystrophy, Hypomyelinating, 10	Inability to walk, Babinski sign, Prominent eyelashes, Seizure, Hyperkinetic movements, Spasticit...	OMIM:616420
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Redundant neck skin, Diastasis recti, Large placenta, Flexion contracture, Macroglossia, Respirat...	ORPHA:254528
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi...	OMIM:619313
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Intellectual Developmental Disorder, Autosomal Dominant 42	Cerebral palsy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic...	OMIM:616973
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic...	OMIM:620185
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Dysmetria, Titubation, Compulsive behaviors	OMIM:619405
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Webbed neck, Ch...	ORPHA:209905
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Tremor, Dyspnea, Rhabdomyolysis, Respiratory insufficiency, Death in childhood,...	OMIM:610505
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Respiratory failure, Camptodactyly	OMIM:618804
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Hip dislocation, Dysmetria, Gait ataxia, Dysdi...	OMIM:614381
Subependymal Nodular Heterotopia	Focal-onset seizure, Seizure, Limb myoclonus, Focal aware seizure	ORPHA:101030
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr...	OMIM:220110
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Neonatal death, Seizure, Ataxia, Myoclonus	OMIM:619167
Hyperlysinemia	Hyperactivity, Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetrapar...	ORPHA:2203
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Dystonia-Aphonia Syndrome	Seizure, Unsteady gait, Gait disturbance, Myoclonus	ORPHA:412217
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ventricular h...	ORPHA:563
Peho Syndrome	Seizure, Myoclonus	OMIM:260565
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Hypoglycemia, Small for gestat...	OMIM:613658
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respiratory failure, Respiratory in...	OMIM:613845
Mercury Poisoning	Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia	ORPHA:330021
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Congenital Sialidosis Type 2	Ataxia, Dysmetria, Seizure, Myoclonus, Generalized hypertrichosis, Spasticity	ORPHA:93400
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi...	OMIM:619127
49,Xxxxy Syndrome	Epicanthus, Down-sloping shoulders, Blepharophimosis, Tremor, Coxa valga, Hip dislocation, Upslan...	ORPHA:96264
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor...	ORPHA:363618
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem...	OMIM:232200
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory...	ORPHA:449280
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
16P11.2P12.2 Microdeletion Syndrome	Hyperactivity, Epicanthus, Abnormal pinna morphology, Toe syndactyly, Proximal placement of thumb...	ORPHA:261211
Stiff-Person Syndrome	Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls	OMIM:184850
Septo-Optic Dysplasia Spectrum	Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Hypohidrosis, Polydipsia, Abnormality ...	ORPHA:3157
Fetal Encasement Syndrome	Thin skin, Congenital diaphragmatic hernia	OMIM:613630
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating creatine kinase concentration	ORPHA:52430
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure to thrive	ORPHA:436271
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Focal ton...	ORPHA:314655
Alg1-Cdg	Respiratory failure	ORPHA:79327
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus	OMIM:618314
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal...	OMIM:261515
Liver Disease, Severe Congenital	Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He...	OMIM:619991
Chromosome 18Q Deletion Syndrome	Epicanthus, Toe syndactyly, Failure to thrive in infancy, Rocker bottom foot, Proximal placement ...	OMIM:601808
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ...	OMIM:103580
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus,...	OMIM:254900
Fatty Acid Hydroxylase-Associated Neurodegeneration	Bilateral tonic-clonic seizure, Focal-onset seizure, Depression, Progressive gait ataxia, Falls, ...	ORPHA:329308
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc...	ORPHA:881
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations, Dysphagia	OMIM:313200
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, C...	OMIM:118450
Bloom Syndrome	Elevated hemoglobin A1c, Hepatic steatosis, Small for gestational age, Type II diabetes mellitus	OMIM:210900
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Pallor	ORPHA:3226
Mucopolysaccharidosis, Type Iiia	Seizure, Hyperactivity, Synophrys, Hearing impairment	OMIM:252900
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Infantile spasms, Tremor, Rigidity, Ver...	ORPHA:25
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Seizure, Epileptic spasm, Myoclonus	OMIM:617669
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements	ORPHA:209970
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Oral-pharyngeal dysphagia, Tremor, Synophrys, Prominent protruding coccyx, Protruding ear, Thicke...	OMIM:300966
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Wiedemann-Steiner Syndrome	Hyperactivity, Epicanthus, Telecanthus, Thick eyebrow, Aggressive behavior, Tapered finger, Synop...	ORPHA:319182
Developmental And Epileptic Encephalopathy 100	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Chorea, Typ...	OMIM:619777
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized myoclonic seizure, Small for gestational age, Infantile spasms, Action tremor, Inabil...	ORPHA:404454
Japanese Encephalitis	Bilateral tonic-clonic seizure, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor...	ORPHA:79139
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
Mitochondrial Trifunctional Protein Deficiency 1	Myopathy, Respiratory failure, Rhabdomyolysis, Respiratory insufficiency	OMIM:609015
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Infantile spasms, Chorea, Spastic tetraplegia, Gait ataxia, Seizure, Myoclonus	OMIM:618321
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Bilateral tonic-clonic seizure, Highly arched eyebrow, Supernumerary nipple, Seizure, Gai...	ORPHA:247262
Sotos Syndrome	Tall stature, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowth, Attent...	OMIM:117550
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Choreoathetosis, Athetosis, Respiratory fai...	ORPHA:506
Nephrotic Syndrome, Type 1	Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly	OMIM:619802
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Epileptic spasm, Vocal cord paralysis, Seizure, Myoclonus, Spasticity	ORPHA:500144
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Speech apraxia, Syndactyly, Epicanthus, Hyperactivity, Telecanthus, Focal impaired awareness seiz...	OMIM:618505
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla...	OMIM:156200
Cimdag Syndrome	Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis	OMIM:619273
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Gabriele-De Vries Syndrome	Hallux valgus, Ptosis, Telecanthus, Dystonia, Posteriorly rotated ears, Sandal gap, Tremor, Spars...	OMIM:617557
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C...	ORPHA:244
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, H...	ORPHA:447997
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hyperparathyroidism, Inguinal hernia, Hypercholesterolemia, Abnormal dental enamel ...	ORPHA:534
Orofaciodigital Syndrome Type 3	Focal seizure with eyelid myoclonia, Abnormality of hair texture, Myoclonus, Oculomotor apraxia, ...	ORPHA:2752
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Dystonia, Respiratory insufficiency, Respiratory...	OMIM:607625
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi...	ORPHA:308552
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Seizure, Spasticity, Myoclonus	OMIM:246450
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Fatigable weakness, Skin vesicle, Myopathy	ORPHA:257
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Seizure, Myoclonus	OMIM:614462
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Recurrent pneumonia,...	ORPHA:496641
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Synophrys, Myoclonic seizure, Compulsive behaviors, Clinodactyly of t...	OMIM:619512
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Syndactyly, Epicanthus, Mesoaxial polydactyly, Ataxia, Highly ...	ORPHA:2754
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c...	ORPHA:91355
Melas	Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Hypogonadotropic hypogon...	ORPHA:550
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Seizure, Hyperkinetic movements, Difficulty walking, Truncal ataxia	ORPHA:369847
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:98914
Congenital Disorder Of Glycosylation, Type Ij	Infantile spasms, Aggressive behavior, Tremor, Seizure, Hypertonia, Clinodactyly of the 5th finger	OMIM:608093
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Hypokinesia	OMIM:613320
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Ataxia, Photosensitive tonic-clonic seizure, Loss of ability to walk in first decade, Seizure, Hy...	OMIM:300243
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity	ORPHA:369837
Mend Syndrome	Hyperactivity, Telecanthus, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, A...	ORPHA:401973
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Respiratory failure, Vestibular areflexia, Dystonia	ORPHA:3240
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Clonic seizure, Synophrys, Protruding ear, Hypertonia, Tics, Compulsive behaviors, Otitis...	OMIM:619475
Adnp Syndrome	Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Compulsive beha...	ORPHA:404448
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Hepatocellular ca...	OMIM:232220
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight loss, Seizure, Progressiv...	OMIM:607459
Serotonin Syndrome	Clonus, Tremor, Rigidity, Seizure, Hypertonia, Myoclonus	ORPHA:43116
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Abnormal auditory evoked potentials, Upper limb postural tremor, Tremor, Head tit...	ORPHA:99027
Immunodeficiency 23	Failure to thrive, Ataxia, Myoclonus, Cortical myoclonus	OMIM:615816
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Postural tremor, Babinski sign, Seizure, Lower limb hypertonia, Truncal obesity, Status e...	OMIM:301072
7Q11.23 Microduplication Syndrome	Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Abnormal central motor function, Ataxia, Cerebral palsy, Sensorineural hearing imp...	ORPHA:760
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test, Obesity	ORPHA:444077
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Gait ataxia, Cogwheel rigidity, Seiz...	ORPHA:254892
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami...	OMIM:619573
Unilateral Polymicrogyria	Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S...	ORPHA:268943
Joubert Syndrome	Ataxia, Highly arched eyebrow, Tremor, Seizure, Hand polydactyly, Foot polydactyly, Low-set ears,...	ORPHA:475
Boutonneuse Fever	Respiratory failure, Petechiae	ORPHA:83313
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Seizure, Self-injurious behavior, Abnormal temper t...	ORPHA:449291
Congenital Diaphragmatic Hernia	Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox...	ORPHA:2140
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc...	ORPHA:99889
Galloway-Mowat Syndrome 10	Myoclonus	OMIM:619609
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertonia, Type I diabetes mellitus, Reduced ...	OMIM:226980
Niemann-Pick Disease Type C	Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Comp...	ORPHA:646
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dy...	OMIM:615530
Choreoacanthocytosis	Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Self-mutilation of t...	ORPHA:2388
Weaver Syndrome	Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly...	OMIM:277590
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Ataxia, Bilateral tonic-clonic seizure, Seizure, Hypertonia, Myoclonus, Spasticity, Failure to th...	OMIM:618426
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, White eyelashes, Ataxia, White eyebrow, Cryptorchidism, Spastic tetraplegia, Seizure...	OMIM:609136
Joubert Syndrome With Renal Defect	Low-set, posteriorly rotated ears, Ataxia, Highly arched eyebrow, Tremor, Seizure, Hand polydacty...	ORPHA:220497
Senior-Loken Syndrome 9	Hepatic fibrosis, Hypogonadism, Obesity, Cholestasis	OMIM:616629
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Ataxia, Babinski sign, Gait ataxia, Seizure, Hyperkinetic movements, Loss of ambulation, Spasticity	OMIM:620089
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin...	OMIM:619525
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Epicanthus inversus, Protruding ear, Abnormal repetitive mannerisms, Hyperactivity, Tapered finge...	OMIM:309590
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Helsmoortel-Van Der Aa Syndrome	Ectropion of lower eyelids, Polyphagia, Eyelid coloboma, Compulsive behaviors, Short 4th toe, Pro...	OMIM:615873
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel...	OMIM:210250
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Polyphagia, Self-mutilation, Aggressive behavior	ORPHA:251028
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Distal Duplication 17Q	Low-set, posteriorly rotated ears, Hallux valgus, Hyperactivity, Epicanthus, Arachnodactyly, Over...	ORPHA:3379
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida...	OMIM:614298
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy	OMIM:616538
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Palmoplantar hyperhidrosis	OMIM:610644
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Increased body weight, Aggressive behavior	OMIM:300860
Perrault Syndrome 4	Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t...	OMIM:615300
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hypokinesia	OMIM:310400
Molybdenum Cofactor Deficiency, Complementation Group B	Bilateral tonic-clonic seizure, Spastic tetraplegia, Opisthotonus, Seizure, Hypertonia, Myoclonic...	OMIM:252160
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dysphagia	OMIM:168600
1P36 Deletion Syndrome	Hepatic steatosis, Camptodactyly of finger, Abnormal repetitive mannerisms, Abnormality of the sp...	ORPHA:1606
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hepatic steatosis, Failure to thrive, Hyperthyroidism, Hypog...	ORPHA:3455
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation	ORPHA:424
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br...	ORPHA:306674
Farber Disease	Infantile spasms, Paraparesis, Seizure, Myoclonus, Spasticity, Failure to thrive	ORPHA:333
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure, Muscular dystrophy	ORPHA:88618
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Seizure, Myoclonus, Gait ataxia	ORPHA:70595
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Seizure, Hyperkinetic...	ORPHA:391428
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Tremor, Hypopnea, Respiratory failure, Dystonia, Neonatal death, Respira...	OMIM:617248
Mend Syndrome	Hyperactivity, Posteriorly rotated ears, Broad hallux, Overlapping toe, Long fingers, 2-3 toe syn...	OMIM:300960
Congenital Disorder Of Deglycosylation 1	Involuntary movements, Chorea, Dysmetria, Myoclonic seizure, Athetosis, Seizure, Hyperkinetic mov...	OMIM:615273
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Hypercholesterolemia, Camptodactyly of finger, Elevated circulating creatine k...	OMIM:309000
Arterial Tortuosity Syndrome	Respiratory distress, Redundant skin, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Thi...	ORPHA:3342
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory failure, In...	ORPHA:555874
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, 2-3 toe cutaneous syndactyly, Dysmetria, Protruding ear, Gait ataxia, Hand tremor, Sho...	OMIM:614756
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Dystonia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait...	OMIM:606002
Oromandibular Dystonia	Blepharospasm, Torticollis, Hyperkinetic movements, Weight loss	ORPHA:93958
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Restrictive ventilatory defect, Resp...	ORPHA:420741
9P13 Microdeletion Syndrome	Highly arched eyebrow, Thick eyebrow, Myoclonus, Hand tremor	ORPHA:324313
Nestor-Guillermo Progeria Syndrome	Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin	OMIM:614008
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra...	OMIM:203700
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Sensorineural hearing impairment, Babinski sign, Abnormal pyramidal sign, Spastic dysarth...	ORPHA:447753
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic paraplegia, Dysmetria, S...	OMIM:618527
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Myasthenia, Limb-Girdle, Autoimmune	Fatigable weakness, Type 2 muscle fiber atrophy, Proximal amyotrophy	OMIM:159400
Kinsship Syndrome	Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Synophrys, Generalized...	OMIM:619297
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul...	ORPHA:158048
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Tick-Borne Encephalitis	Speech apraxia, Generalized-onset seizure, Incoordination, Anorexia, Paralysis, Tremor, Focal-ons...	ORPHA:297
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Dystonia, Spasticity	ORPHA:2828
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Epicanthus, Posteriorly rotated ears, Large for gestational age, Tremor, Cupped ear, Spasticity, ...	OMIM:614080
Combined Oxidative Phosphorylation Deficiency 14	Seizure, Myoclonus, Myoclonic seizure	OMIM:614946
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Sparse eyebrow, Inability to walk, Cryptorchidism, Unsteady gait, Synophry...	ORPHA:3063
Chédiak-Higashi Syndrome	Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:167
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Cholelithiasis, Aggressive behavior, Precocious puberty, Obesity, Hep...	OMIM:301066
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Pgm3-Cdg	Ataxia, Seizure, Myoclonus, Failure to thrive, Cortical myoclonus	ORPHA:443811
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Skeletal muscle atrophy, Apnea, Ragged-red muscle fibers, Respiratory insuffici...	OMIM:252010
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Small for gestational age...	OMIM:264090
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor, Weight loss	ORPHA:99819
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Small for gestational age, Inabili...	OMIM:617799
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Flexion contracture, Hypoalbuminemia, Macrovesicular hepatic steatosis	OMIM:617303
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Alexander Disease	Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Seizure, Self-injurious beh...	ORPHA:58
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth...	OMIM:232240
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Stillbirth, Facial palsy, Limb hypertonia	OMIM:259720
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei...	ORPHA:740
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Aspiration, Colpocephaly, Death in childhoo...	OMIM:618651
Digeorge Syndrome	Hepatic steatosis, Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating p...	OMIM:188400
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Addictive behavior, Seizure, Decerebrate rigidity, Progressive sp...	ORPHA:512
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Hepatomegaly, Large for gestational age, Birth length greater than 97th percenti...	OMIM:300868
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Dyspnea...	ORPHA:79138
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Legius Syndrome	Hyperactivity, Diaphyseal dysplasia, Seizure, Vestibular schwannoma, Lisch nodules, Xanthelasma, ...	ORPHA:137605
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ...	OMIM:619534
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice	ORPHA:79477
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Hepatic steatosis	OMIM:619321
Nmda Receptor Encephalitis	Generalized-onset seizure, Involuntary movements, Rigidity, Focal-onset seizure, Chorea, Opisthot...	ORPHA:217253
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Intrauterine growth retardation, Respiratory failure	ORPHA:158687
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Hepatic steatosis, Increased circulating ferritin concentration, Splenomegaly, Hepa...	OMIM:615846
Autoimmune Hypoparathyroidism	Myoclonic spasms, Hypocalcemic seizures	ORPHA:36913
Perlman Syndrome	Large for gestational age, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Hy...	OMIM:267000
Monosomy 22Q13.3	Ptosis, Hyperactivity, Epicanthus, Palpebral edema, Hair-pulling, Obesity, Seizure, Long eyelashe...	ORPHA:48652
Orofaciodigital Syndrome Type 1	Finger syndactyly, Epicanthus, Telecanthus, Ataxia, Brachydactyly, Tarsal synostosis, Tremor, Pre...	ORPHA:2750
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Splenomegaly, Cholestatic l...	OMIM:270400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Seizure, Hyp...	OMIM:615356
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Developmental And Epileptic Encephalopathy 89	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Highly arched eyebrow, Sp...	OMIM:619124
Argininemia	Hyperactivity, Anorexia, Seizure, Progressive spastic quadriplegia, Spastic paraparesis, Frequent...	OMIM:207800
Orofaciodigital Syndrome Iii	Myoclonus	OMIM:258850
Microcephaly 29, Primary, Autosomal Recessive	Seizure, Hyperactivity, Ataxia, Thick eyebrow	OMIM:620047
Pmm2-Cdg	Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody...	ORPHA:79318
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Combined Oxidative Phosphorylation Defect Type 29	Poor coordination, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:478029
Opsoclonus-Myoclonus Syndrome	Rigidity, Limb myoclonus, Ataxia, Myoclonus	ORPHA:1183
Maternal Phenylketonuria	Epicanthus, Hyperactivity, Bifid distal phalanx of the thumb, Bilateral ptosis, Seizure, Hypoplas...	ORPHA:2209
Tangier Disease	Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Synophrys, Protruding ear, Prominent fingertip pads, Clinodactyly of the 5th finger, Abno...	OMIM:612474
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Tremor, Rhabdomyolysis, Respiratory failure	ORPHA:533
Lathosterolosis	Seizure, Failure to thrive, Myoclonus	ORPHA:46059
Tyrosinemia, Type I	Hepatomegaly, Hypoglycemia, Periodic paralysis, Splenomegaly, Pancreatic islet-cell hyperplasia, ...	OMIM:276700
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Abnormality of thyroid physiology, Hyperlipidemia, Failure to thrive, ...	ORPHA:1830
Ogden Syndrome	Inguinal hernia, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Macrovesicular he...	OMIM:300855
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Seizure, Myoclonic spasms	OMIM:252150
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Obesity, Dentinogenesis imperfecta, Type I diabetes mellitus	OMIM:619269
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Dystonia, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:618278
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Myoclonic spasms	ORPHA:94090
Isolated Posterior Meningocele	Paraplegia, Hypertonia, Upper limb spasticity, Difficulty walking, Hypokinesia	ORPHA:268810
Ethylene Glycol Poisoning	Seizure, Slurred speech, Ataxia, Myoclonus	ORPHA:31826
Autosomal Dominant Hypocalcemia	Fatigable weakness, Alopecia, Cortical myoclonus	ORPHA:428
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Cerebrotendinous Xanthomatosis	Resting tremor, Ataxia, Parkinsonism, Paraparesis, Babinski sign, Abnormal pyramidal sign, Spasti...	ORPHA:909
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Congenital diaphragmatic hernia, Dyspnea, Erythema, Respiratory failure, Ag...	ORPHA:2556
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Polyphagia, Obesity, Dysphagia, Congenital hypothyr...	OMIM:607872
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Pontocerebellar Hypoplasia Type 7	Involuntary movements, Fatigable weakness of skeletal muscles, Cryptorchidism, Seizure, Hypertoni...	ORPHA:284339
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Miscarriage, Interphalangeal joint contracture of finger, Diastasis recti, L...	ORPHA:96334
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion contract...	OMIM:619503
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Myoclonus	ORPHA:1352
Costello Syndrome	Redundant neck skin, Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Respiratory ins...	OMIM:218040
Cutis Laxa, Autosomal Recessive, Type Ia	Redundant skin, Congenital diaphragmatic hernia, Cutis laxa, Umbilical hernia, Emphysema	OMIM:219100
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Ptosis	OMIM:146500
Oculopharyngodistal Myopathy 1	Ataxia, Tremor, Bilateral ptosis, Sensorineural hearing impairment, Weight loss, Dysphagia, Ptosis	OMIM:164310
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis	OMIM:243910
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Pericardial And Diaphragmatic Defect	Hypoxemia, Neonatal respiratory distress, Aplasia of the left hemidiaphragm, Congenital diaphragm...	ORPHA:2847
Myhre Syndrome	Generalized muscle hypertrophy, Respiratory insufficiency, Skeletal muscle hypertrophy, Respirato...	OMIM:139210
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Inguinal hernia, Hypoglycemia, Tall stature...	ORPHA:116
Joubert Syndrome 1	Oculomotor apraxia, Hemifacial spasm, Ataxia, Highly arched eyebrow	OMIM:213300
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder	OMIM:619934
Gabriele-De Vries Syndrome	Hallux valgus, Telecanthus, Dystonia, Posteriorly rotated ears, Small for gestational age, Lacrim...	ORPHA:506358
Meningioma	Hemifacial spasm, Abnormal central motor function, Ataxia, Hypogonadotropic hypogonadism, Focal-o...	ORPHA:2495
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Dyspnea, Respiratory failure, Intrauterine growth ...	ORPHA:2554
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Chronic sinusitis	OMIM:615636
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Respiratory failure, Recurrent pneumonia, Rhabdomyosarcoma	ORPHA:647
Rat-Bite Fever	Diminished movement, Weight loss	ORPHA:31205
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Carney Complex	Neoplasm of the pancreas, Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Fol...	ORPHA:1359
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Epileptic spasm, Exaggerated startle response, Involuntary movements, Inability...	ORPHA:438213
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation	ORPHA:293948
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom...	ORPHA:892
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Abnormal location of the eyebrow, Chorea, Widow's peak, Choreoathetosis, Hyperkinetic mov...	ORPHA:522077
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ...	ORPHA:353281
Greenberg Dysplasia	Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly	OMIM:215140
Denys-Drash Syndrome	Neonatal death, Neonatal respiratory distress, Congenital diaphragmatic hernia, Posterolateral di...	OMIM:194080
Danon Disease	Hypokinesia	OMIM:300257
Pseudohypoparathyroidism Type 1B	Myoclonic spasms, Hypocalcemic seizures	ORPHA:94089
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms	ORPHA:73224
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure	ORPHA:79404
Sialuria	Seizure, Hyperkinetic movements	ORPHA:3166
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia, Hepatob...	ORPHA:373
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Craniorachischisis	Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomeli...	ORPHA:63260
Fraser Syndrome 2	Respiratory failure	OMIM:617666
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Spina bifida, Respiratory insufficiency, Respiratory failure, Stillbirth, Umbi...	OMIM:304120
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Dysplastic corpus callosum, Respiratory failure, Lateral ventricle dilatation, Intrauterine growt...	ORPHA:500150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ...	ORPHA:353277
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax	ORPHA:731
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Dyspnea, Intrauterine growth retardation, Respiratory failure	ORPHA:2636
Fabry Disease	Anorexia, Hyperlipidemia, Hypohidrosis, Delayed puberty, Abnormal circulating lipid concentration...	ORPHA:324
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cryptorchidism, Abnormal pyramidal sign, Seizure, Hypertonia, Hyperkinetic movements, Severe fail...	ORPHA:468631
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure	ORPHA:805
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Doors Syndrome	Low anterior hairline, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure	ORPHA:79500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Seizure, Spasticity, Myoclonus	OMIM:253280
Leukocyte Adhesion Deficiency	Peritonitis, Hyperinsulinemic hypoglycemia	ORPHA:2968
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Hellp Syndrome	Elevated hepatic transaminase, Increased body weight	ORPHA:244242
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax, Severe intrauterine growth retardation	ORPHA:3404
Hydrolethalus Syndrome 1	Anencephaly, Agenesis of corpus callosum, Stillbirth, Intrauterine growth retardation, Agenesis o...	OMIM:236680
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia, Hepatoblastoma	OMIM:312870

Histopathology

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

There is no histopathology data for Snap25

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Snap25.

No publications found that use IMPC mice or data for Snap25.

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MGI Allele	Allele Type	Produced
Snap25^{tm43932(pL1L2_PAT_B0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Snap25^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Snap25^{tm43932(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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