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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
increased circulating triglyceride level Nrxn2em1(IMPC)H HOM Early adult 8.21×10-10
decreased locomotor activity Nrxn2em1(IMPC)H HOM Early adult 2.73×10-05
increased circulating total protein level Nrxn2em1(IMPC)H HOM Early adult 3.74×10-07
trunk curl Nrxn2em1(IMPC)H HOM Early adult 6.71×10-06
abnormal gait Nrxn2em1(IMPC)H HOM   Early adult 4.77×10-05
tremors Nrxn2em1(IMPC)H HOM Late adult 5.65×10-05
decreased total body fat amount Nrxn2em1(IMPC)H HOM   Late adult 8.19×10-05
enlarged heart Nrxn2em1(IMPC)H HOM Late adult 0.00
increased blood urea nitrogen level Nrxn2em1(IMPC)H HOM Early adult 1.52×10-12
hyperactivity Nrxn2em1(IMPC)H HOM   Late adult 1.28×10-05
increased circulating cholesterol level Nrxn2em1(IMPC)H HOM Early adult 1.10×10-08
increased lean body mass Nrxn2em1(IMPC)H HOM   Late adult 9.38×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Dorso Ventral

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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
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
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
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Depression, Attention deficit hyperactivity disorder ORPHA:280397
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Obsessive-Compulsive Disorder
Anxiety, Depression, Skin-picking OMIM:164230
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia OMIM:607250
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Chorea, Benign Hereditary
Anxiety, Gait disturbance OMIM:118700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Ataxia, Steppage gait, Hypercholesterolemia ORPHA:94124
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Ataxia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Ethanolaminosis
Cardiomegaly OMIM:227150
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Spasticity ORPHA:356996
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Cardiomyopathy, Myoclonus, Tremor OMIM:619647
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Ataxia, Spasticity, Babinski sign, Tremor OMIM:611105
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Hyperactivity, Ataxia, Hepatomegaly, Spasticity,... OMIM:615924
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Anxiety, Ataxia, Depression, Difficulty walking, Attention deficit hyperactivity disorder OMIM:619191
Glutathionuria
Tremor OMIM:231950
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Azotemia, Familial
Azotemia OMIM:109160
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Difficulty walking, Hypertriglyceridemia OMIM:610717
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
8p23.1 deletion syndrome
Atrial septal defect, Hyperactivity, Congenital diaphragmatic hernia, Abnormal heart morphology, ... DECIPHER:39
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Immunodeficiency 8
Hyperactivity OMIM:615401
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Ataxia, Hypertriglyceridemia ORPHA:158048
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Babinski sign, Spastic tetraplegia OMIM:616657
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, No social interaction, Unhappy demeanor, Anxiety, ... ORPHA:96369
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Emotional lability, Irritability, Separation... ORPHA:66624
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Geniospasm 1
Anxiety OMIM:190100
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Hypertriglyceridemia, Hyp... ORPHA:90041
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Failure to thrive, Cardiomyopathy, Myoclonus, Tremor OMIM:619651
Dystonia 31
Difficulty walking, Abnormal posturing OMIM:619565
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Abnormal heart morphology, Spasticity, Clumsiness, Abnormality o... ORPHA:79262
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... OMIM:128230
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Lethargy, Acut... ORPHA:247585
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Ataxia, Gait ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia OMIM:208920
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Anxiety, Attention deficit hyperactivity disorder OMIM:618878
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
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
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Increased to... OMIM:267700
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Hyperactivity, Ataxia, Spasticity, Oculomotor apraxia, Tremor OMIM:612716
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Behr Syndrome
Achilles tendon contracture, Dysmetria, Ataxia, Progressive spasticity, Hamstring contractures, B... OMIM:210000
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor OMIM:615528
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Increased serum pyruvate, Ataxia, Unsteady gait, Elevated circulating creatine kinase ... OMIM:619405
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Multiple joint contractures, Oromandibular dystonia, Bradyk... ORPHA:521406
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Hypercholesterolemia, Ataxia, Elevated circulating creatine kinase co... ORPHA:64753
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Rigidity, Hyperactivity, Dysmetria, Tremor OMIM:618090
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior, Anxiety, Hyperactivity, Aggressive behavior, Impulsivity ORPHA:101039
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Attention deficit hyperactivity disorder OMIM:617182
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia, Gait disturbance OMIM:604484
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Obesity, Ataxia, Ventricular septal defect, Ventricular ... OMIM:614947
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Hyperactivity, Poor coordination, Recurrent hand flapping OMIM:309548
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... ORPHA:251282
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Fraxe Intellectual Disability
Stereotypical body rocking, Clumsiness, Hyperactivity, Recurrent hand flapping ORPHA:100973
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Tre... ORPHA:98762
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Babinski sign, Parkinsonism with favorable res... ORPHA:314632
Juvenile Huntington Disease
Dystonia, Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Rigidi... ORPHA:248111
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Reduced intraabdominal adipose tissue, Hyperactivity, Gene... ORPHA:363400
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Tremor OMIM:615768
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Splenomegaly, Ataxia, Hepatomegaly, Gait ataxia, Spasticity, Tremor OMIM:616719
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Ankl... OMIM:270500
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Hemiparesis, Hypertonia OMIM:604317
Glycerol Kinase Deficiency
Hypertriglyceridemia, Lethargy OMIM:307030
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Hyperactivity, Elbow flexion contracture, Tremor OMIM:619470
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor OMIM:615048
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Ataxia, Tremor OMIM:614307
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Tremor OMIM:616710
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Small for gestational age, Motor stereotypy, Joint contracture of... ORPHA:352490
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Spastic dysarthria, Nonprogressive cerebellar at... ORPHA:314978
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia OMIM:261630
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Ata... OMIM:261640
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Spasticity, Ataxia, Tremor OMIM:300983
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Spinocerebellar Ataxia 12
Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progressive cerebellar ataxi... OMIM:604326
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor OMIM:612953
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor OMIM:614203
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor OMIM:619561
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Abnormal aggressive, impulsive or violent behavior, Hyperactivity, Aggressive beh... ORPHA:3077
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Cachexia, Babinski sign, Tremor OMIM:618093
Huntington Disease-Like 2
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea, Weight loss OMIM:606438
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Increased to... OMIM:603553
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor ORPHA:363710
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Anxiety, Poor eye contact, Abnormal social behavior ORPHA:444002
Dengue Fever
Hypoproteinemia, Lethargy ORPHA:99828
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... ORPHA:98855
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia, Hyperargininemia OMIM:603471
Spinocerebellar Ataxia 23
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Clonus, Babinski sign, Tremor OMIM:600363
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor OMIM:616127
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Small for gestational age, Tremor OMIM:278780
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Ataxia, Tremor OMIM:618951
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Ataxia, Hypertriglyceridemia OMIM:617575
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Dystonia, Resting tremor, Limb hypertonia, Chorea, Myoclonus ORPHA:324588
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Increased intramuscular fat, Tremor ORPHA:276435
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Griscelli Syndrome Type 1
Hyperlipidemia, Ataxia ORPHA:79476
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Torticollis, Tremor OMIM:128235
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Dystonia, Resting tremor, Limb hypertonia, Chorea OMIM:606703
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... ORPHA:98863
Dopa-Responsive Dystonia
Abnormal social behavior, Anxiety, Inability to walk, Panic attack, Emotional lability, Irritabil... ORPHA:255
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... ORPHA:98853
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Lethargy, Elevated circulating creatine kinase concentration, Incr... ORPHA:26793
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ataxia, Tremor OMIM:617862
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
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, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormality of extrapyramida... OMIM:300894
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Aicardi-Goutieres Syndrome 6
Rigidity, Dystonia, Tremor OMIM:615010
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... OMIM:602124
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Tetraplegia, Hyperactivity, Hypertonia OMIM:274270
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:79085
Lipodystrophy, Familial Partial, Type 3
Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:604367
Huntington Disease-Like 1
Dysmetria, Bradykinesia, Gait ataxia, Gait disturbance, Abnormal posturing ORPHA:157941
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Glut1 Deficiency Syndrome 2
Ataxia, Dystonia, Choreoathetosis, Tremor OMIM:612126
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Frequent falls, Dysmetria, Intention tremor, Fasciculations, Gait ataxia... ORPHA:397946
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor OMIM:612016
Leukodystrophy, Hypomyelinating, 11
Ataxia, Failure to thrive, Spasticity, Myoclonus, Tremor OMIM:616494
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Ankle flexion contracture, Tremor OMIM:616668
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... OMIM:606159
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Methylmalonic acidemia, Abnormal posturing, Lethargy OMIM:614857
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Rigidity, Chorea, Dysdi... OMIM:213600
Cog4-Cdg
Ataxia, Hypercholesterolemia ORPHA:263501
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... OMIM:617145
Childhood Absence Epilepsy
Abnormal social behavior, Anxiety, Low self esteem, Depression, Attention deficit hyperactivity d... ORPHA:64280
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:617836
Omenn Syndrome
Hypoproteinemia OMIM:603554
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Failure to thrive, Hyperactivity, Small for gestational age OMIM:609425
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ... ORPHA:158057
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Inability to walk, Abnormal posturing, Tip-toe gait ORPHA:216866
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Focal dystonia, Blepharospasm, Bra... ORPHA:53351
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor OMIM:612438
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia, Spastic tetrapleg... OMIM:300055
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Myoclonus, Tremor OMIM:619028
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Torticollis, Tremor OMIM:224500
Epilepsy, Progressive Myoclonic, 6
Ataxia, Myoclonus, Tremor OMIM:614018
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia, Hyperuricosuria ORPHA:94088
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Spastic tetraplegia OMIM:300886
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Spasticity, Ankle clonus OMIM:617435
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertriglyceridemia ORPHA:435660
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Flexion contracture, Tremor, Spasticity, Babinski sign, Hypertonia OMIM:609260
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Tremor ORPHA:139485
Laron Syndrome
Hypercholesterolemia ORPHA:633
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hypertriglyceridemia ORPHA:435651
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Hyperactivity, Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Chorea,... ORPHA:382
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Decreased LDL cholesterol ... OMIM:615947
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Motor stereotypy, Hyperactivity, Spasticity, Chorea ORPHA:88616
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, B... ORPHA:363654
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Glycine Encephalopathy
Hyperactivity, Myoclonus OMIM:605899
Leptospirosis
Hyperproteinemia ORPHA:509
Dystonia 24
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia OMIM:615034
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavio... ORPHA:449291
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Dysmetria, Dystonia, Apraxia, Spastic paraparesis, Bradykinesia, Ataxia, Dysdiado... OMIM:615157
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Spasticity, Chorea, Clumsiness, Poor fine motor co... ORPHA:79263
Neuroectodermal Melanolysosomal Disease
Tremor, Ataxia, Rigidity, Spasticity, Hypertonia ORPHA:33445
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Spasticity, Limb hypertonia OMIM:619170
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:240085
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Tremor ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Dysmetria, Ataxia, Tremor OMIM:618387
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Difficulty walking, Ataxia, Abnormal circulating creatine kinase concentration ORPHA:98907
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Action tremor, Dystonia, Parkinsonism, Ataxia, Chorea, Hyperkinetic movements, Tremor OMIM:619738
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Small for gestational age, Oculogyric crisis, Bradykinesia, Limb hypertonia, Cerebral p... ORPHA:70594
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Hypermanganesemia With Dystonia 2
Achilles tendon contracture, Parkinsonism, Opisthotonus, Dystonia, Generalized dystonia, Oromandi... OMIM:617013
Urocanase Deficiency
Ataxia, Tremor OMIM:276880
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Tongue fasciculations, Myoclonus, Tremor OMIM:159950
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Hyperactivity, Lower limb spasticity, Spastic paraplegia, Clonus, Babinski sign, U... OMIM:609727
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Gait ataxia, Ri... OMIM:618877
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Transient hyperlipidemia, Hyperammonemia, Let... OMIM:255120
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Inability to walk, A... ORPHA:167
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Paraplegia, Spasticity, Hemiparesis, Cardiomyopathy, Cardiomegaly, Tremor OMIM:105210
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Parkinson-Dementia Syndrome
Rigidity, Abnormal pyramidal sign, Parkinsonism, Tremor OMIM:260540
Neuraminidase Deficiency
Dysmetria, Splenomegaly, Hepatomegaly, Inguinal hernia, Cardiomyopathy, Slurred speech, Cardiomeg... OMIM:256550
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Hemiparesis, Tremor ORPHA:306669
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Abnormal cardiac septum morphology, Dextrocardia, Congenital diaphragmatic hernia,... OMIM:614294
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Gait ... ORPHA:3095
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Abnormal pyramidal sign, Dystonia, Hyperactivity, Limb hypertonia, Gait ataxia, Spasticity, Chore... ORPHA:500180
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Difficulty walking, Ataxia, Gait disturbance ORPHA:90321
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Gait ataxia, Gait disturbance, Titubation, Abnormal posturing ORPHA:225147
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Hypertonia, Hypertrophic cardiomyopathy, Ataxia, Dy... ORPHA:96
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Gait disturbance ORPHA:819
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Enamel hypoplasia OMIM:613576
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Weight loss ORPHA:85447
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Extrapyramidal muscular rigidity, Blepharo... ORPHA:99750
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Myoclonus, Tremor ORPHA:391417
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Tetraplegia, Clonus, Spasticity ORPHA:3137
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Hyperactivity, Cerebral palsy, Inguinal hernia, Arthrogryposis multipl... OMIM:615834
Myopathy With Extrapyramidal Signs
Frequent falls, Dystonia, Choreoathetosis, Hyperactivity, Splenomegaly, Ataxia, Hepatomegaly, Clo... OMIM:615673
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Tremor, Ataxia, Failure to thrive, Attention deficit hyperactivity disorder, Hypertonia OMIM:619556
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Ataxia, Paraparesis, Rigidi... OMIM:606693
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor OMIM:618637
Perry Syndrome
Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss, Tremor ORPHA:178509
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Ataxia, Gait ataxia, Dysdiadochokinesis, Tremor OMIM:614831
Trisomy X
Attention deficit hyperactivity disorder, Tremor ORPHA:3375
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Myocardial fibrosis, Biventricular hypertrophy,... OMIM:619424
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Hepatomegaly, Rigidity, Poor fine moto... OMIM:613280
Sialidosis Type 2
Flexion contracture, Splenomegaly, Ataxia, Hepatomegaly, Inguinal hernia, Umbilical hernia, Tremor ORPHA:87876
Optic Atrophy 11
Ataxia, Hyperactivity, Dysmetria, Hyperkinetic movements OMIM:617302
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Ataxia, Tremor OMIM:617831
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Small for gestational age, Atrial septal defect, Abnormal mi... ORPHA:860
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Limb myoclonus, Clumsiness, Myoclonus, Tremor ORPHA:2590
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Tremor ORPHA:101075
Cln5 Disease
Dysmetria, Hyperactivity, Poor gross motor coordination, Ataxia, Spasticity, Dysdiadochokinesis, ... ORPHA:228360
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor OMIM:233910
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Lethargy ORPHA:2089
Developmental And Epileptic Encephalopathy 42
Flexion contracture, Athetosis, Ataxia, Tremor, Hypertonia OMIM:617106
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:210250
Megalocornea-Mental Retardation Syndrome
Ataxia, Hypercholesterolemia OMIM:249310
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Spasticity, Tremor OMIM:618718
Lennox-Gastaut Syndrome
Hyperactivity, Myoclonus ORPHA:2382
Parkinson Disease 21
Rigidity, Parkinsonism, Bradykinesia, Tremor OMIM:616361
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Megalocornea-Intellectual Disability Syndrome
Ataxia, Hypercholesterolemia ORPHA:2479
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Flexion contracture, Ataxia, Tremor OMIM:278760
Fucosidosis
Abnormal pyramidal sign, Spastic tetraplegia, Lipoatrophy, Hepatomegaly, Failure to thrive, Spast... ORPHA:349
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Hyp... OMIM:615980
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Mohr-Tranebjaerg Syndrome
Abnormal pyramidal sign, Dystonia, Focal dystonia, Generalized dystonia, Apraxia, Oromandibular d... ORPHA:52368
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Failure to thrive, Hyperactivity, Hypertonia OMIM:617865
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Parkinsonism, Dystonia, Oculogyric crisis, Gait ataxia, Tremor OMIM:618049
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Achilles tendon contracture, Frequent falls, Dysmetria, Hand tremor, Paraparesis,... OMIM:302800
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Ataxia, Babinski sign, Spastic ataxia, Tremor OMIM:616795
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Late-Infantile/Juvenile Krabbe Disease
Frequent falls, Spastic diplegia, Spastic paraparesis, Lower limb spasticity, Ataxia, Upper motor... ORPHA:206443
Gerstmann-Straussler Disease
Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, Spasticity, Limb atax... OMIM:137440
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dysmetria, Ataxia, Gait ataxia, Poor motor coordination, Spasticity, Oculomotor apraxia, Tremor ORPHA:1170
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Tremor ORPHA:101078
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Dystonia, Choreoathetosis, Hypertrophic cardiomyopathy, Poor coordination, ... ORPHA:391428
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Limb hypertonia, Ataxia, Failure to thrive, Rigidity, Spasticity, Abnormal... ORPHA:442835
Infantile Sialic Acid Storage Disease
Cardiomegaly, Failure to thrive, Splenomegaly, Hepatomegaly OMIM:269920
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysmetria, Dysdiadochokinesis, Tremor OMIM:610185
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Failure to thrive, Babinski sign, Spastic paraplegia, Tremor ORPHA:477673
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Apraxia, Gait ataxia, Spasticity, Tremor OMIM:617810
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Ataxia, Limb dystoni... ORPHA:352649
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Failure to thrive in infancy ORPHA:858
Amish Nemaline Myopathy
Shoulder flexion contracture, Hip contracture, Tremor ORPHA:98902
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Blepharospasm, Involuntary movements, Ataxia, Progress... ORPHA:101
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnormality of extrapyramidal motor functio... ORPHA:98773
4H Leukodystrophy
Dysmetria, Dystonia, Ataxia, Upper motor neuron dysfunction, Progressive gait ataxia, Dysdiadocho... ORPHA:289494
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Jaberi-Elahi Syndrome
Dysmetria, Dystonia, Choreoathetosis, Gait ataxia, Failure to thrive, Spasticity, Tremor OMIM:617988
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:79240
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Pyruvate Dehydrogenase Deficiency
Multiple lipomas, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Ataxia, Cerebral palsy, Spa... ORPHA:765
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Ventricular septal defect, Attention deficit hyperactivity disorder OMIM:618504
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Hypertonia, Blepharospasm, Torticollis, Writer's cramp, Tremor OMIM:128100
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive, Cardiom... OMIM:212140
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:370
Spinocerebellar Ataxia 8
Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity, Tremor OMIM:608768
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Hypertonia, Flexion contracture, Progressive cerebellar ataxia, Upper motor neuron dysfunction, P... ORPHA:137898
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Spastic dysarthria, Bradykinesia, Progressive cerebellar ataxia, Gait at... ORPHA:282166
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Intraalveolar phospholipid ac... ORPHA:470
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Truncal ataxia, Ventricular hypertrophy, Limb ataxia OMIM:619051
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Lower limb spasticity, Progressive cerebellar ataxia, Inguinal hernia, Chorea, Upp... ORPHA:485350
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Failure to thrive in infancy OMIM:619064