Gene Summary

Name:
neurexin II
Synonyms:
neurexin II beta,  6430591O13Rik,  neurexin II alpha

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating total protein level Nrxn2em1(IMPC)H HOM Early adult 3.74×10-07
abnormal gait Nrxn2em1(IMPC)H HOM   Early adult 4.31×10-05
trunk curl Nrxn2em1(IMPC)H HOM Early adult 6.64×10-06
tremors Nrxn2em1(IMPC)H HOM Late adult 4.76×10-05
increased lean body mass Nrxn2em1(IMPC)H HOM   Late adult 6.78×10-05
enlarged heart Nrxn2em1(IMPC)H HOM Late adult 0.00
hyperactivity Nrxn2em1(IMPC)H HOM   Late adult 8.36×10-06
increased circulating triglyceride level Nrxn2em1(IMPC)H HOM Early adult 8.21×10-10
increased blood urea nitrogen level Nrxn2em1(IMPC)H HOM Early adult 2.34×10-12
increased circulating cholesterol level Nrxn2em1(IMPC)H HOM Early adult 1.29×10-08
decreased locomotor activity Nrxn2em1(IMPC)H HOM Early adult 2.56×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Echo

M-Mode Images

91 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Nrxn2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nrxn2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity, Compulsive behaviors OMIM:618830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Hypoalphalipoproteinemia, Primary, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604091
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Spasticity, Bruxism, Aggressive behavior ORPHA:356996
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... OMIM:616516
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Compulsive behaviors, Addictive alcohol use, Myoclonus OMIM:159900
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Spasticity, Impulsivity, Gait ataxia, Rigidity, Dystonia, Dysphagia, Clumsiness OMIM:620448
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness, Aggressive behavior OMIM:618221
Autism, Susceptibility To, 8
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:607373
Autism
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:209850
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:136120
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so... OMIM:608636
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity, Motor stereotypy OMIM:606053
Schizophrenia 15
Hyperactivity OMIM:613950
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Agitation, Tremor, Cardiomyopathy, Compulsive behaviors, Failure to thrive, Dystonia, Myoclonus OMIM:619651
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxi... ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Bruxism, Aggressive behavior OMIM:615493
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Aggressive behavior OMIM:618103
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ethanolaminosis
Cardiomegaly OMIM:227150
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Intention tremor OMIM:617863
Spinocerebellar Ataxia 37
Tremor, Ataxia, Dysphagia, Frequent falls OMIM:615945
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Re... OMIM:620482
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Brunner Syndrome
Kinetic tremor, Aggressive behavior, Impulsivity, Self-injurious behavior OMIM:300615
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal ... OMIM:615924
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra... OMIM:614561
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Cardiomyopathy, Frequent falls, Dystonia, Myoclonus OMIM:619647
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hypertrophic cardiomyopathy, Obesity, Ataxia, Aggressive be... OMIM:620270
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Compulsive be... ORPHA:216873
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... OMIM:615703
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Ataxia, Hyperproteinemia ORPHA:158048
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Migraine, Familial Hemiplegic, 1
Agitation, Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Progressive cerebellar ataxia, Increased LDL cholesterol conce... OMIM:277460
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Dysphagia, Postu... ORPHA:210571
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare... OMIM:616053
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Abnormal heart morphology, Atax... ORPHA:79262
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls OMIM:616921
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
8p23.1 deletion syndrome
Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia OMIM:620211
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Tremor, Chorea ORPHA:494526
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Spasticity, Cerebral palsy, Compulsive behaviors, Phonic tics, Dystonia, Aggressiv... OMIM:301107
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Truncal ataxia, Elevated circulating creatine kinase concentration, Gait ataxia, Ata... OMIM:208920
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Reduced social reciprocity, Polyphagia, Aggressive behavior ORPHA:329249
Guanidinoacetate Methyltransferase Deficiency
Abnormality of extrapyramidal motor function, Chorea, Hyperactivity, Athetosis, Progressive extra... ORPHA:382
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Urocanase Deficiency
Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria, Aggressive behavior OMIM:276880
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Lower limb spasticity, ... ORPHA:251282
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism, Dysphagia OMIM:128235
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Spinocerebellar Ataxia 48
Babinski sign, Cachexia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysphagia, ... OMIM:618093
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Elevated circulating creatine kinase concentration, Ataxia, Elevated circulating ... ORPHA:64753
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Dysphagia OMIM:224500
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:607616
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Intellectual Developmental Disorder, Autosomal Recessive 48
Inappropriate laughter, Tremor, Self-mutilation, Aggressive behavior OMIM:616269
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor OMIM:182980
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Elevated circulating creatine kinase concentration, Titubation, Ataxia,... OMIM:619405
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Myoclonic-Atonic Epilepsy
Attention deficit hyperactivity disorder, Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Impulsivity, Oppositional defiant disorder, Ataxia, Myoclonus, Dys... OMIM:619028
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Tremor, Spastic tetraparesis, Motor stereotypy, Aggressive behavior OMIM:619470
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Dysphagia, Myoclonus, Choreoathetosis OMIM:261630
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Attention deficit hype... OMIM:619725
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Stxbp1-Related Encephalopathy
Hyperactivity, Spasticity, Tremor, Dystonia, Ataxia, Spastic tetraplegia ORPHA:599373
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t... ORPHA:98762
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Spasticity, Tremor, Ataxia, Aggressive behavior OMIM:300983
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behav... ORPHA:101039
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par... ORPHA:71517
Hartnup Disorder
Hyperactivity, Hypertonia, Episodic ataxia, Attention deficit hyperactivity disorder OMIM:234500
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism... OMIM:619738
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech OMIM:609161
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Ankle clonus OMIM:615768
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Myoclonus, Aggressive behavior OMIM:605899
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Dystonia 28, Childhood-Onset
Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst... OMIM:617284
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Juvenile Huntington Disease
Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Chorea, Gait ataxia, Rigidity, Dyston... ORPHA:248111
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus, Dilated cardiomyopathy ORPHA:324588
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Re... OMIM:616710
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Abnormal pyramidal sign, Parkins... OMIM:612067
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Gait disturbance OMIM:604484
Autism, Susceptibility To, 3
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608049
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Limb hypertonia, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Hyperactivity,... ORPHA:500180
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Patent foramen ovale, Poor fine motor coordination, Attention deficit hyperactivit... OMIM:617182
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li... OMIM:213600
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Spinocerebellar Ataxia Type 37
Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Ataxia, Hypoalbum... OMIM:603553
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Agitation, Spasticity, Tremor, Dystonia, Dysphagia, Motor stereotypy, A... OMIM:617435
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia OMIM:600363
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with favorable response to d... ORPHA:53351
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Childhood Disintegrative Disorder
Abnormal emotion, Reduced social reciprocity, Motor stereotypy ORPHA:168782
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:231111
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Failure to thrive, Motor stereotypy, Small for gestational age, Aggre... OMIM:609425
Morm Syndrome
Hyperactivity, Truncal obesity, Aggressive behavior ORPHA:75858
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Elevated plasma citrulline, Hyperargininemia OMIM:603471
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Spasticity, Tremor, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal... OMIM:618718
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Ataxia, Gait ataxia ORPHA:363400
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Spasticity, Gait ataxia, Left ventricular hypertrophy, Failure to thrive, Myoclonus OMIM:620145
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Small for gestational age OMIM:278780
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis, Aggressive behavior ORPHA:329284
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Hyperuricemia OMIM:308950
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Dysp... OMIM:261640
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Griscelli Syndrome Type 1
Hyperlipidemia, Ataxia ORPHA:79476
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Hyperactivity, Spastic tetraparesis, Impulsivity, Failure to thrive, Hemiparesis, Sel... OMIM:604317
Lcat Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased circulating apolipoprote... ORPHA:650
Dengue Fever
Hypoproteinemia, Lethargy ORPHA:99828
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Tip-toe gait, Increased LDL cholesterol concentration, Waddling gait, Eleva... ORPHA:98855
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Dysphagia, Dysmetria OMIM:617916
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Neuromuscu... ORPHA:240085
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Fasciculations, Tongue fasciculations, Truncal ataxia, Head tremor, I... ORPHA:276198
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating apolipoprotei... OMIM:205400
Atypical Rett Syndrome
Pill-rolling tremor, Agitation, Restrictive behavior, Apraxia, Tongue thrusting, Spasticity, Trem... ORPHA:3095
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Inappropriate behavior, Oculomotor apraxia, Tremor by anatomical site, Extrapyramid... ORPHA:99750
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria OMIM:610245
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Failure to thrive, Ataxia, Myoclonus OMIM:616494
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Tremor, Dysphagia ORPHA:276435
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Bradykinesia, Inappropriate behavior, Nail-biting, Hyperactivity, Slowed slurred speech, Attentio... OMIM:619827
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Cog4-Cdg
Hypercholesterolemia, Ataxia ORPHA:263501
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Autosomal Spastic Paraplegia Type 58
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba... ORPHA:397946
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Methylmalonic acidemia, Hyperhomocystinemia, Elevated circulating propionylca... OMIM:614857
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Tip-toe gait, Increased LDL cholesterol concentration, Waddling gait, Eleva... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Tip-toe gait, Increased LDL cholesterol concentration, Waddling gait, Eleva... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Tip-toe gait, Increased LDL cholesterol concentration, Waddling gait, Eleva... ORPHA:98853
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res... OMIM:606693
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Recurrent hand flapping, Cerebral palsy, Pulmonic stenosis, Slender build,... OMIM:617600
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait... OMIM:600116
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:620603
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Ataxia, Abnor... OMIM:617145
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Ataxia, Splenomegaly, Choreoathetosis OMIM:612126
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Hepatomegaly, Spasticity, Tremor, Frequent falls, Gait ataxia, Splenomegaly OMIM:616719
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Dys... ORPHA:79263
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa... OMIM:620135
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Spasticity, Limb hypertonia OMIM:619170
Huntington Disease-Like 1
Abnormal posturing, Bradykinesia, Gait disturbance, Gait ataxia, Dysmetria ORPHA:157941
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Gait disturbance ORPHA:216866
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:604367
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Ataxia OMIM:617575
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Hyperlipoproteinemia, Type I
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Tremor, Limb myoclonus, Frequent falls, Dysphagia, Myoclonus, Clumsiness ORPHA:2590
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Spastic tetraplegia OMIM:300886
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Bruxism, Tremor, Spastic para... OMIM:300055
Hsd10 Disease
Abnormal social behavior, Gait disturbance, Ataxia, Dysphagia, Choreoathetosis ORPHA:391417
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Dystonia, Sma... ORPHA:70594
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:213200
Combined Oxidative Phosphorylation Deficiency 10
Spasticity, Hypertrophic cardiomyopathy, Failure to thrive, Pericardial effusion, Dystonia, Cardi... OMIM:614702
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Hsd10 Disease, Infantile Type
Hyperkinetic movements, Spastic tetraparesis, Hypertrophic cardiomyopathy, Dystonia, Dysphagia, R... ORPHA:391428
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Dystonia, Ataxia, Parkinsonism OMIM:618049
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Dysphagia, Abnormal pyramidal ... OMIM:608768
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Developmental Delay, Language Impairment, And Ocular Abnormalities
Apraxia, Hyperactivity, Impulsivity, Frequent temper tantrums, Pulmonic stenosis, Motor stereotyp... OMIM:620141
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Tremor, Ataxia, Spastic ataxia, Dysphagia, Abnormal pyramidal sign OMIM:616795
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior ORPHA:444002
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Irritability, Abnormal temper tantrums, Hyperactivity, Depression, Recurrent hand flapping, Exces... ORPHA:449291
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... OMIM:223360
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Tremor, Rigidity, Dystonia, Splenomegaly OMIM:615010
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Spinocerebellar Ataxia Type 27
Limb ataxia, Truncal ataxia, Tremor, Gait ataxia, Hand tremor, Aggressive behavior ORPHA:98764
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating chylomicron ... OMIM:615947
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hypertonia, Hyperactivity, Rigidity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
Laron Syndrome
Hypercholesterolemia ORPHA:633
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614096
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Tremor, Frequent falls, Dysphagia, Myoclonus OMIM:159950
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Dysmetria OMIM:610185
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... OMIM:618877
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Abnormal social behavior, Punding, Depression ORPHA:64280
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Aggressiv... OMIM:252920
Perry Syndrome
Bradykinesia, Inappropriate behavior, Tremor, Rigidity, Dystonia, Disinhibition, Parkinsonism, We... OMIM:168605
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Weight loss ORPHA:85447
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Developmental And Epileptic Encephalopathy 46
Failure to thrive, Tremor, Dysphagia, Limb hypertonia OMIM:617162
Non-Specific Early-Onset Epileptic Encephalopathy
Limb hypertonia, Spasticity, Tremor, Impulsivity, Involuntary movements, Failure to thrive, Rigid... ORPHA:442835
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Tremor, Hypertrophic cardiomyo... OMIM:619424
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Dysphagia OMIM:313200
Leptospirosis
Hyperproteinemia ORPHA:509
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Gait disturbance ORPHA:819
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration, Ataxia, Difficulty walking ORPHA:98907
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia,... OMIM:128100
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss ORPHA:178509
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Difficulty walking, Ataxia, Gait disturbance ORPHA:90321
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Bradykinesia, Titubation, Gait disturbance, Gait ataxia ORPHA:225147
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Hypertrophic cardiomyopathy, Hemiplegia/hemiparesis, Dyst... ORPHA:96
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:79085
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav... ORPHA:240071
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Hyperactivity, Tremor, Decreased body weight, Motor stereotypy, Attention deficit h... OMIM:618342
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Tremor, Failure to thrive, Ataxia, Attention deficit hyperactivity disorder OMIM:619556
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis, Aggressive behavior OMIM:300894
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Lethargy ORPHA:2089
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Myopathy With Extrapyramidal Signs
Hepatomegaly, Abnormality of extrapyramidal motor function, Chorea, Hyperactivity, Tremor, Freque... OMIM:615673
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Ataxia, Dysphagia,... OMIM:210000
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Increased LDL cholest... OMIM:278000
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf... ORPHA:289494
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Inability to walk, Hypoproteinemia, Gait disturbance, Hyponatremia, Ataxia,... ORPHA:167
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Tetraplegia, Spasticity, Clonus ORPHA:3137
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Hypermanganesemia With Dystonia 1
Bradykinesia, Hepatomegaly, Abnormality of extrapyramidal motor function, Poor fine motor coordin... OMIM:613280
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Dysphagia, Postural tremor, Dysmetria OMIM:607694
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Dysphagia, Choreoathetosis OMIM:233910
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:435660
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Failure to thrive, Tremor, Babinski sign ORPHA:477673
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Cardiomyopathy, Intention tremor, He... OMIM:105210
X-Linked Creatine Transporter Deficiency
Hypertonia, Hyperactivity, Cachexia, Chorea, Athetosis, Dystonia, Ataxia, Self-mutilation ORPHA:52503
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Reduced social reciprocity, Motor stereotypy, Attention deficit hyperactiv... OMIM:610042
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypertonia, Limb hypertonia, Tremor, Cardiomyopathy, Athetosis, Dystonia, Ataxia, Spastic tetrapl... OMIM:617710
Mohr-Tranebjaerg Syndrome
Babinski sign, Oromandibular dystonia, Generalized dystonia, Apraxia, Tremor, Focal dystonia, Att... ORPHA:52368
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Neurodegeneration With Brain Iron Accumulation 2B
Bradykinesia, Babinski sign, Hypertonia, Hyperactivity, Chorea, Spasticity, Dysdiadochokinesis, I... OMIM:610217
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Myoclonus, Cardiomegaly, Slurred speech, Dysmetria OMIM:256550
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... OMIM:210250
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Failure to thrive, Atrial septal defect, Tremor OMIM:617744
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... OMIM:615980
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ... ORPHA:101
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Incoordination, Tremor, Frequent falls, Paraparesis, Dysphagia, Hand tremor, Dysme... OMIM:302800
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:435651
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Tetraplegia, Tremor, Upper motor neuron dysfunction, Neuromuscular dysphag... ORPHA:206443
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Limb dystonia, A... ORPHA:352649
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Oromandibular dystonia, Generalized dystonia, Scissor gait, Spastici... OMIM:617013
Classic Phenylketonuria
Hypertonia, Paraplegia, Tremor, Self-injurious behavior, Attention deficit hyperactivity disorder... ORPHA:79254
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Intention tremor, Spastic paraplegia, Failure to thrive, Head titubation,... OMIM:312080
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
X-Linked Adrenoleukodystrophy
Paralysis, Hyperactivity, Incoordination, Paraparesis, Attention deficit hyperactivity disorder, ... ORPHA:43
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Lower limb spasticity, Hyperactivity, Clonus, Spastic paraplegia, Upper limb spast... OMIM:609727
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia,... ORPHA:98773
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Truncal ataxia, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia ORPHA:2479
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Difficulty walking, Elevated circulating creatine kinase concentration OMIM:610717
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Poor fine motor coordination, Failure to thrive, Secundum atrial septal defect, Mo... OMIM:620242
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Infantile Sialic Acid Storage Disease
Cardiomegaly, Failure to thrive, Hepatomegaly, Splenomegaly OMIM:269920
Congenital Toxoplasmosis
Cardiomegaly, Failure to thrive in infancy, Hepatomegaly ORPHA:858
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Omenn Syndrome
Hypoproteinemia OMIM:603554
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Decreased HDL cholesterol concentration, Elevated plasma c... ORPHA:470
Nipah Virus Disease
Anorexia, Tremor, Myoclonus ORPHA:99825
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619064
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Neuhauser Syndrome
Hypercholesterolemia, Ataxia OMIM:249310