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Gene: Nrxn2 MGI:1096362

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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lacZ Expression

Expression data not available

Associated Images

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

Echo

M-Mode Images

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XRay Images Whole Body Lateral Orientation

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XRay Images Whole Body Dorso Ventral

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XRay Images Whole Body Dorso Ventral

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XRay Images Whole Body Lateral Orientation

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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
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression ORPHA:468726
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior, Shyness OMIM:618221
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Gait disturbance, Loss of ambulation, Elevated circulati... OMIM:616516
Episodic Ataxia, Type 1
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia OMIM:160120
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:619491
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:136120
Schizophrenia 15
Hyperactivity OMIM:613950
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... OMIM:314250
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Hypercholesterolemia, Ataxia, Hypoalbuminemia ORPHA:94124
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Spinocerebellar Ataxia 37
Dysphagia, Frequent falls, Ataxia, Tremor OMIM:615945
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Hypercholesterolemia, Ataxia, Hypoalbuminemia OMIM:607250
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Attention deficit hyperactivity disorder OMIM:617863
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Pick Disease Of Brain
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Irritability, Emotional blunting, Dimi... OMIM:172700
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Hyperactivity, Large for gestational age ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 48
Emotional lability, Self-mutilation, Inability to walk, Inappropriate laughter, Waddling gait, Ag... OMIM:616269
Primary Dystonia, Dyt13 Type
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... ORPHA:98807
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Hepatomegaly, Tremor, M... OMIM:615924
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Cardiomyopathy, Tremor, Myoclonus, Dystonia OMIM:619647
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... OMIM:614561
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Agitation, Cardiomyopathy, Failure to thrive, Tremor, Myoclonus, Dystonia OMIM:619651
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Hyperisoleucinemia OMIM:620085
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Dysmetria OMIM:619191
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Myoclonus, Involuntary movements OMIM:611092
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Difficulty walking, Elevated circulating creatine kinase concentration OMIM:610717
Dystonia 11, Myoclonic
Agoraphobia, Alcoholism, Anxiety, Panic attack, Depression OMIM:159900
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus OMIM:614937
Sandhoff Disease, Adult Form
Spasticity, Focal dystonia, Dysphagia, Gait ataxia, Tremor, Fasciculations, Dystonia ORPHA:309169
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:615703
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Obsolete: Early-Onset Schizophrenia
Emotional lability, Polyphagia, Impairment in personality functioning, Suicidal ideation, Abnorma... ORPHA:96369
Parkinsonism With Spasticity, X-Linked
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign OMIM:300911
Frontotemporal Dementia
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Irritability, Inappropriate sexual beh... OMIM:600274
Spinocerebellar Ataxia 43
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia OMIM:618425
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration, Ataxia ORPHA:158048
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... OMIM:260300
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Babinski sign, Ataxia, Tremor OMIM:611105
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Torticollis, Limb dystonia, Postural tremor, Dysphagia, Br... ORPHA:210571
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Geniospasm 1
Anxiety OMIM:190100
Intellectual Developmental Disorder, Autosomal Recessive 37
Spasticity, Hyperactivity OMIM:615493
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:610947
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Spasticity, Spastic tetraplegia, Hyperactivity, Ankle clonus, Babinski sign OMIM:616657
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spinocerebellar Ataxia 40
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... OMIM:616053
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Gait disturbance, Progressive cerebellar ataxia, Ataxia,... OMIM:277460
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Agitation, Hemiplegia, Tremor OMIM:141500
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus OMIM:616921
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Clumsiness, Rig... ORPHA:216873
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... ORPHA:90041
8p23.1 deletion syndrome
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... OMIM:607688
Dystonia 31
Abnormal posturing, Difficulty walking OMIM:619565
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Huntington Disease-Like 1
Unsteady gait, Restlessness, Anxiety, Depression, Aggressive behavior, Dysmetria OMIM:603218
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Ataxia, Loss of ambulation, Elevated circulating creatine kinase concentration, Gait... OMIM:208920
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Hypobetalipoproteinemia, Familial, 1
Ataxia, Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL... OMIM:615558
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level OMIM:620211
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... OMIM:128230
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Pandas
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... ORPHA:66624
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... OMIM:607317
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Ataxia, Hypoalbuminemia OMIM:616267
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating alpha-fetoprotein concentration, Choreoathetosis, Elevated circulati... ORPHA:64753
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Dysphagia, Tremor, Torsion dystonia OMIM:224500
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity, Anxiety, Abnormal social behavior, Aggressive behavior, ... ORPHA:101039
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Attention deficit hyperactivity disorder OMIM:618878
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Ataxia, Increased total bilirubin, Hype... OMIM:267700
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... ORPHA:247585
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Hemiballismus, Tremor, Chorea ORPHA:494526
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Hartnup Disorder
Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity, Hypertonia OMIM:234500
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus OMIM:615957
Dystonia 13, Torsion, Autosomal Dominant
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... OMIM:607671
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Hyperactivity, Ataxia, Tremor, Choreoathetosis, Dystonia OMIM:612716
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Primary Dystonia, Dyt2 Type
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... ORPHA:99657
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Dystonia 12
Parkinsonism, Torticollis, Dysphagia, Bradykinesia, Tremor, Dystonia OMIM:128235
Spinocerebellar Ataxia 48
Parkinsonism, Ataxia, Cachexia, Chorea, Dysphagia, Tremor, Gait ataxia, Babinski sign, Dystonia, ... OMIM:618093
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Impaired social interactions, Aggressive behavior, No social interaction ORPHA:329249
Hyperphenylalaninemia, Bh4-Deficient, C
Dysphagia, Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia OMIM:261630
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... ORPHA:240103
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Attention deficit hyperactivity disorder, Ataxia, Tremor OMIM:616421
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Nonprogressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Intention tremo... ORPHA:314978
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Lower limb spasticity, Spastic dysarthria, Spastic ataxia, Dysphagia, Tremor, Spasti... ORPHA:251282
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... ORPHA:98762
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Disinhibition, Rigidity, Chorea, Dysphagia, Brad... OMIM:606159
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia OMIM:256300
Spinocerebellar Ataxia, Autosomal Recessive 30
Unsteady gait, Ataxia, Titubation, Elevated circulating creatine kinase concentration, Increased ... OMIM:619405
Dystonia 24
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia OMIM:615034
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... ORPHA:314632
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Corticobasal Syndrome
Limb myoclonus, Limb dystonia, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... ORPHA:454887
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Spinocerebellar Ataxia 7
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... OMIM:164500
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Juvenile Huntington Disease
Progressive cerebellar ataxia, Hyperactivity, Ataxia, Rigidity, Chorea, Bradykinesia, Gait ataxia... ORPHA:248111
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Ankle clonus, Tremor, Babinski sign, Truncal ataxia OMIM:615768
Parkinson Disease 17
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor OMIM:614203
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Tremor, Myoclonus, Dysmetria, Lower limb spasticity, Impulsivity OMIM:619028
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:603552
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... OMIM:617284
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... ORPHA:420485
Spinocerebellar Ataxia 18
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria OMIM:607458
Rapid-Onset Dystonia-Parkinsonism
Parkinsonism, Torticollis, Limb dystonia, Dysphagia, Gait ataxia, Bradykinesia, Resting tremor, C... ORPHA:71517
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Tremor, Bradykinesia, Oromandibular dystoni... ORPHA:521406
Dystonia 16
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Retrocollis, Postural tremor, Generalized d... OMIM:612067
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Abnormality of extrapyramidal motor function, Progressive extrapyramidal m... ORPHA:382
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Chorea, Myoclonus, Resting tremor, Dilated cardiomyopathy, Dystonia ORPHA:324588
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Chorea, Dilated cardiomyopathy, Myoclonus, Resting tremor, Involuntary movements... OMIM:606703
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... OMIM:613135
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity, Patent for... OMIM:617182
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Dysdiadochokinesis, Bradykinesia, Tremor... OMIM:213600
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Gait disturbance OMIM:604484
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:618620
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus, Truncal ataxia ORPHA:363710
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Hyperactivity, Ataxia, Tremor OMIM:300983
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:613101
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... OMIM:606324
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:300635
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Frequent falls, Limb dystonia, Hand tremor, Blepharospas... ORPHA:53351
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Ataxia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating f... OMIM:603553
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity OMIM:600363
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Developmental And Epileptic Encephalopathy 109
Spasticity, Hyperactivity, Left ventricular hypertrophy, Failure to thrive, Gait ataxia, Myoclonus OMIM:620145
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Rigidity, Tremor, Gait ataxia, Dysmetria OMIM:618090
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus ORPHA:98763
Intellectual Developmental Disorder, X-Linked 109
Poor coordination, Impulsivity, Hyperactivity, Agitation OMIM:309548
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Bipolar affective disorder, Abnormal aggre... ORPHA:3077
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Bradykinesia, Resting tremor, Dystonia OMIM:605909
Lower Motor Neuron Syndrome With Late-Adult Onset
Dysphagia, Tremor, Fasciculations, Upper motor neuron dysfunction, Tongue fasciculations ORPHA:276435
Glycine Encephalopathy 1
Myoclonus, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Gait ataxia, Ataxia ORPHA:363400
Fraxe Intellectual Disability
Clumsiness, Hyperactivity, Impulsivity, Agitation ORPHA:100973
Dystonia 7, Torsion
Torticollis, Hand tremor, Blepharospasm, Clumsiness, Writer's cramp, Oromandibular dystonia, Tors... OMIM:602124
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Small for gestational age, Ataxia, Tremor OMIM:278780
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Parkinsonism, Ataxia, Limb hypertonia, Rigidity, Dysphagia, Bradykines... OMIM:261640
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperargininemia, Hyperammonemia, Elevated plasma citrulline OMIM:603471
Neurodegeneration With Brain Iron Accumulation 7
Dystonia, Ataxia, Dysphagia, Tremor, Lower limb spasticity, Dysmetria OMIM:617916
Dengue Fever
Hypoproteinemia, Lethargy ORPHA:99828
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign OMIM:615362
Lcat Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... ORPHA:650
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level OMIM:615238
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Abnormal pyramidal sign, Hyperactivity, Limb hypertonia, Abnormality of extrapyramida... ORPHA:500180
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Gait disturbance, Tip-toe gait, Elevated circulating cre... ORPHA:98855
Parkinsonism-Dystonia 3, Childhood-Onset
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Dysphagia, Tremor, Action tremor, Hypertoni... OMIM:619738
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Ataxia, Tremor OMIM:618637
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Tremor OMIM:619470
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Increased ci... ORPHA:26793
Tangier Disease
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... OMIM:205400
Griscelli Syndrome Type 1
Hyperlipidemia, Ataxia ORPHA:79476
Spinocerebellar Ataxia 23
Limb ataxia, Tremor, Gait ataxia, Babinski sign, Dysmetria OMIM:610245
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Spinocerebellar Ataxia 50
Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Myoclonus, Action tremor OMIM:620158
Dopa-Responsive Dystonia
Emotional lability, Agoraphobia, Inability to walk, Gait disturbance, Difficulty walking, Anxiety... ORPHA:255
Leukodystrophy, Hypomyelinating, 11
Spasticity, Ataxia, Failure to thrive, Tremor, Myoclonus OMIM:616494
11Q22.2Q22.3 Microdeletion Syndrome
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... ORPHA:247598
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor, Bradykinesia, ... ORPHA:240085
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Chorea, Spa... ORPHA:397946
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Cog4-Cdg
Hypercholesterolemia, Ataxia ORPHA:263501
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Tetraplegia, Hyperactivity, Failure to thrive OMIM:274270
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Gait disturbance, Tip-toe gait, Elevated circulating cre... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Gait disturbance, Tip-toe gait, Elevated circulating cre... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Gait disturbance, Tip-toe gait, Elevated circulating cre... ORPHA:98853
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Lopes-Maciel-Rodan Syndrome
Spasticity, Abnormal pyramidal sign, Agitation, Ankle clonus, Dysphagia, Bradykinesia, Tremor, Hy... OMIM:617435
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Tremor, Gai... OMIM:617145
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Increased blood urea nitrogen, Hypomagnesemia OMIM:613845
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Frequent falls, Limb ataxia, Hepatomegaly, Tremor, Gait ataxia, Splenomegaly OMIM:616719
Glut1 Deficiency Syndrome 2
Ataxia, Splenomegaly, Tremor, Choreoathetosis, Dystonia OMIM:612126
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic spasms, Ataxia, Clumsiness, Chorea, Dysphagia, Tremor, Myoclonus, Poor fine... ORPHA:79263
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Hepatosplenomegaly, Frequent falls, Limb myoclonus, Eyelid myoclonus, Clumsiness, Dysphagia, Trem... ORPHA:2590
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
Huntington Disease-Like 1
Gait disturbance, Bradykinesia, Gait ataxia, Abnormal posturing, Dysmetria ORPHA:157941
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hyperhomocystinemia, Abnormal posturing, Hypomethioninemia, Elevated circ... OMIM:614857
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Rigidity, Dysphagia, Tremor, Choreoathetosis, Dystonia OMIM:233910
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:604367
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:617836
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Childhood Absence Epilepsy
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Low self esteem, Dep... ORPHA:64280
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Atrial septal defect, Perimembranous ventricular septal defect, Hypert... OMIM:620135
Mitochondrial Complex I Deficiency, Nuclear Type 36
Spasticity, Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Ataxia, Cogwheel rigidity, Attention deficit hyperactivity disorder, Chorea, Bradyk... OMIM:619725
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Cogwheel rigidity, Scissor gait, Bradykinesia, Resting tremor, Babinski... ORPHA:363654
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Ataxia, Hypoalbuminemia OMIM:617575
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:235400
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Tip-toe gait, Inability to walk, Abnormal posturing ORPHA:216866
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Hsd10 Disease
Ataxia, Rigidity, Dysphagia, Tremor, Myoclonus, Choreoathetosis, Spastic paraparesis ORPHA:391417
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Dysphagia, Ga... OMIM:615157
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Spastic tetraplegia OMIM:300886
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Tremor, Incoordina... OMIM:608768
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Torticollis, Ataxia, Parkinsonism with favorable response to dopaminerg... OMIM:606693
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Rigidity, Tremor, Splenomegaly, Dystonia OMIM:615010
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Small for gestational age, Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Ce... ORPHA:70594
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Paraparesis, Progressive extrapyramidal movement disorder, Rigidity, Tremor, Myoclonus, H... OMIM:612736
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Ataxia, Spastic ataxia, Dysphagia, Tremor, Spastic gait, Babinski sign OMIM:616795
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hyperbilirubinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated ... ORPHA:158057
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Ataxia, Tremor, Gait ataxia, Incoordination, Dysmetria OMIM:213200
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Combined Oxidative Phosphorylation Deficiency 10
Spasticity, Small for gestational age, Failure to thrive, Pericardial effusion, Hypertrophic card... OMIM:614702
Parkinsonism-Dystonia 2, Infantile-Onset
Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Incoordination, Dystonia OMIM:618049
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic tetraplegia, Parkinsonism, Ataxia, Restlessness, Apraxia, Tremor, Bradykinesia, Spastic p... OMIM:300055
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Myoclonus, Dystonia ORPHA:139485
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Dysphagia, Tremor, Myoclonus, Tongue fasciculations OMIM:159950
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Spinocerebellar Ataxia 15
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Tremor, Bradykinesia, Dystonia ORPHA:306669
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration ORPHA:435660
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Failure to thrive, Hypertrophic cardiomyopathy OMIM:614096
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Laron Syndrome
Hypercholesterolemia ORPHA:633
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Dysphagia, Fasciculations, Tremor OMIM:313200
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Parkinsonism, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoclonus... OMIM:618877
Hyperlipoproteinemia, Type Id
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Hypertriglyceridemia, Decreased HD... OMIM:615947
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Truncal ataxia, Dysmetria OMIM:610185
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Hyperactivity, Shyness, Anxiety, Attention deficit hyperactivity di... ORPHA:449291
Developmental And Epileptic Encephalopathy 46
Dysphagia, Limb hypertonia, Tremor, Failure to thrive OMIM:617162
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Parkinson Disease 21
Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:616361
Hsd10 Disease, Infantile Type
Hyperkinetic movements, Poor coordination, Restlessness, Spastic diplegia, Dysphagia, Hypertrophi... ORPHA:391428
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis ORPHA:329284
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Weight loss ORPHA:85447
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Blepharospasm, Generalized dystonia, Writer's cramp, Dysphagia, Tremor, Oromandibula... OMIM:128100
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia OMIM:223360
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, Ataxia OMIM:617831
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Leptospirosis
Hyperproteinemia ORPHA:509
Autosomal Dominant Cerebellar Ataxia
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... ORPHA:99
Sporadic Infantile Bilateral Striatal Necrosis
Gait disturbance, Titubation, Bradykinesia, Gait ataxia, Abnormal posturing ORPHA:225147
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Ataxia, Limb hypertonia, Attention deficit hyperactivity disorder, Rigidity, Failure ... ORPHA:442835
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Smith-Magenis Syndrome
Hypertriglyceridemia, Gait disturbance, Hypercholesterolemia ORPHA:819
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Dysphagia, Tremor OMIM:607734
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Blepharospasm, Speech apraxia, Focal d... ORPHA:99750
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Ataxia, Hemiplegia/hemiparesis, Dysdiadochokinesis, Tremor, Hypertrophic... ORPHA:96
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... ORPHA:158061
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Cogwheel rigidity, Paraparesis, Truncal ti... OMIM:607483
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Clonus, Hepatomegaly, Biv... OMIM:619424
Cockayne Syndrome Type 1
Ataxia, Difficulty walking, Gait disturbance, Increased blood urea nitrogen ORPHA:90321
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... ORPHA:412
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... OMIM:618052
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Difficulty walking, Abnormal circulating creatine kinase concentration, Ataxia ORPHA:98907
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Attention deficit hyperactivity disorder, Failure to thrive, Tremor, Hypertonia OMIM:619556
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Hyperactivity, Dysdiadochokinesis, Dysphagia, Chorea, Bradykinesia, Intention tremor,... OMIM:610217
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Chédiak-Higashi Syndrome
Hypoproteinemia, Inability to walk, Gait disturbance, Ataxia, Hypertriglyceridemia, Increased cir... ORPHA:167
Leukodystrophy, Hypomyelinating, 6
Spasticity, Oculomotor apraxia, Ataxia, Rigidity, Tremor, Choreoathetosis, Dystonia OMIM:612438
Behr Syndrome
Frequent falls, Progressive spasticity, Ataxia, Dysphagia, Tremor, Babinski sign, Truncal ataxia,... OMIM:210000
4H Leukodystrophy
Ataxia, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Dysdiadochokinesis... ORPHA:289494
Myopathy With Extrapyramidal Signs
Frequent falls, Hyperactivity, Ataxia, Ventricular septal defect, Clumsiness, Choreoathetosis, Cl... OMIM:615673
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function, Weight loss ORPHA:178509
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Chorea... OMIM:617600
Alpha-N-Acetylgalactosaminidase Deficiency
Spasticity, Cardiomegaly, Tetraplegia, Clonus ORPHA:3137
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:278000
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Blepharospasm, Axial dystonia, Parkinsonism with favorable... ORPHA:240071
Atypical Rett Syndrome
Spasticity, Limb myoclonus, Agitation, Apraxia, Tremor, Gait ataxia, Pill-rolling tremor, Hand ap... ORPHA:3095
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Ataxia, Postural tremor, Dysphagia, Tremor, Babinski sign, Dystonia, Dysmetria OMIM:607694
Hypermanganesemia With Dystonia 1
Parkinsonism, Hepatomegaly, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Brady... OMIM:613280
Parkinson Disease 14, Autosomal Recessive
Spasticity, Parkinsonism, Eyelid myoclonus, Hemiparesis, Hand tremor, Axial dystonia, Clumsiness,... OMIM:612953
Mohr-Tranebjaerg Syndrome
Abnormal pyramidal sign, Ankle clonus, Apraxia, Attention deficit hyperactivity disorder, General... ORPHA:52368
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619313
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Hemiparesis, Ataxia, Tremor, Intention tremor OMIM:614307
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614251
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Lethargy ORPHA:2089
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Glycogen Storage Disease Iii
Hyperlipidemia, Elevated circulating creatine kinase concentration OMIM:232400
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Small for gestational age, Abnormal ventriculoarterial conne... ORPHA:860
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Frequent falls, Hand tremor, Paraparesis, Dysphagia, Tremor, Babinski sign, Incoordination, Dysme... OMIM:302800
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hyperactivity, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Tremor, Babinski sign, Spastic paraplegia, Failure to thrive ORPHA:477673
Mohr-Tranebjaerg Syndrome
Dysphagia, Spasticity, Dystonia, Tremor OMIM:304700
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Neuraminidase Deficiency
Cardiomyopathy, Hepatomegaly, Slurred speech, Myoclonus, Cardiomegaly, Splenomegaly, Dysmetria OMIM:256550
Gerstmann-Straussler Disease
Spasticity, Parkinsonism, Limb ataxia, Apraxia, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoc... OMIM:137440
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, Ataxia, Clumsiness, Attention deficit hyperactivity disorder, Hemiplegia, Spastic... ORPHA:206443
Amyloidosis, Hereditary, Transthyretin-Related
Spasticity, Abnormal pyramidal sign, Limb ataxia, Hemiparesis, Ataxia, Cardiomyopathy, Tremor, In... OMIM:105210
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Glutathionuria
Tremor, Action tremor, Dysdiadochokinesis OMIM:231950
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Cln5 Disease
Spasticity, Hyperactivity, Ataxia, Poor gross motor coordination, Clumsiness, Abnormal central mo... ORPHA:228360
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Parkinsonism, Clumsiness, Ankle clonus, Generalized dystonia, Scissor ... OMIM:617013
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Bicuspid aortic valve, Failure to thrive, Atrial septal defect OMIM:617744
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Clonus, Spastic paraplegia, Upper limb spasticity, Babinski sign, Lower limb spast... OMIM:609727
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Ataxia, Generalized dystonia, Head titubation, Failure to thrive, Dyspha... OMIM:312080
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Ataxia OMIM:249310
Sitosterolemia 1
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Xanthelasma, Hyperapobe... OMIM:210250
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Gait ataxia, Poor motor coordination, Dysmetria ORPHA:1170
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Blepharospasm, Dysdiadochokinesis, Gait ataxi... ORPHA:101
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hyperammonemia, Lethargy, Elevated circulating creatine kinase concentr... OMIM:255120
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Ga... ORPHA:98773
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia ORPHA:2479
Omenn Syndrome
Hypoproteinemia OMIM:603554
Brain Dopamine-Serotonin Vesicular Transport Disease
Limb dystonia, Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Abnormality o... ORPHA:352649
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Congenital Toxoplasmosis
Failure to thrive in infancy, Cardiomegaly, Hepatomegaly ORPHA:858
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... OMIM:615980
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Truncal ataxia OMIM:619051
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly, Failure to thrive OMIM:269920
Oculopharyngodistal Myopathy 4
Dysphagia, Postural tremor, Tremor OMIM:619790
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia ORPHA:52503
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Cardiomegaly, Hepatomegaly OMIM:619064
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Steatorrhea, Hyperala... ORPHA:470
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Pulmonic stenosis, Apraxia, Attention deficit hyperactivity disorder, Impulsivity OMIM:620141
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Dysphagia, Tremor, Intention tre... OMIM:614381
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse,... ORPHA:555874
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia ORPHA:540
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Choreoathetosis, Hypertonia, Hyperactivity, Rigidity OMIM:620023
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:79240
Parkinson Disease, Late-Onset
Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Tremor, Resting tremor, Dystonia OMIM:168600
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration ORPHA:370
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Failure to thrive, Pulmonic stenosis, Atrial septal defect OMIM:619239
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia OMIM:203800
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb ataxia, Ataxia, Clumsiness, Cardiomyopathy, Gait ataxia, Babinski sign, Cardiomegaly, Trunca... OMIM:619259
Classic Phenylketonuria
Hemiplegia, Attention deficit hyperactivity disorder, Tremor, Paraplegia, Hypertonia ORPHA:79254
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia, Leth... ORPHA:90674
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Brain-Lung-Thyroid Syndrome
Abnormal eating behavior, Hyperactivity, Ataxia, Atrial septal defect, Ventricular septal defect,... ORPHA:209905
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:619802
Spinocerebellar Ataxia Type 27
Limb ataxia, Hand tremor, Tremor, Gait ataxia, Truncal ataxia ORPHA:98764
X-Linked Adrenoleukodystrophy
Hyperactivity, Hemiparesis, Disinhibition, Clumsiness, Paraparesis, Attention deficit hyperactivi... ORPHA:43
Perry Syndrome
Parkinsonism, Disinhibition, Rigidity, Tremor, Bradykinesia, Dystonia, Weight loss OMIM:168605
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency