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Gene: Nrxn2 MGI:1096362

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Gene Summary

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

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
increased circulating cholesterol level Nrxn2em1(IMPC)H HOM Early adult 1.10×10-08
trunk curl Nrxn2em1(IMPC)H HOM Early adult 7.54×10-06
hypoactivity Nrxn2em1(IMPC)H HOM Early adult 2.71×10-05
tremors Nrxn2em1(IMPC)H HOM Late adult 5.97×10-05
increased blood urea nitrogen level Nrxn2em1(IMPC)H HOM Early adult 1.14×10-10
hyperactivity Nrxn2em1(IMPC)H HOM   Late adult 1.80×10-05
enlarged heart Nrxn2em1(IMPC)H HOM Late adult 0.00
decreased total body fat amount Nrxn2em1(IMPC)H HOM   Late adult 7.82×10-05
increased circulating total protein level Nrxn2em1(IMPC)H HOM Early adult 3.74×10-07
abnormal gait Nrxn2em1(IMPC)H HOM   Early adult 5.56×10-05
increased lean body mass Nrxn2em1(IMPC)H HOM   Late adult 8.89×10-05

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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
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Mental Retardation, Autosomal Recessive 66
Gait ataxia, Shyness, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:618221
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Gait disturbance, Incre... OMIM:616516
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Hypercholesterolemia, Hypoalbuminemia, Ataxia OMIM:607250
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... ORPHA:464440
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus, Dystonia OMIM:611092
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Dystonia, Ataxia, Hyperactivity OMIM:615924
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Dystonia 3, Torsion, X-Linked
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Flexion contracture, Ataxia, Babinski sign, Spasticity OMIM:611105
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Hypercholesterolemia, Hypoalbuminemia, Ataxia ORPHA:94124
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Ataxia, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ethanolaminosis
Cardiomegaly OMIM:227150
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Spasticity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Spastic tetraplegia, Babinski sign, Hyperactivity OMIM:616657
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Frequent falls, Ataxia OMIM:615945
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Glutathionuria
Tremor OMIM:231950
Azotemia, Familial
Azotemia OMIM:109160
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign OMIM:300660
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Neutral Lipid Storage Disease With Myopathy
Difficulty walking, Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Parkinson Disease 19A, Juvenile-Onset
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Hypermanganesemia With Dystonia 2
Tremor, Dystonia, Gait disturbance, Flexion contracture, Bradykinesia, Ankle clonus, Parkinsonism... OMIM:617013
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
8p23.1 deletion syndrome
Atrial septal defect, Abnormal heart morphology, Congenital diaphragmatic hernia, Hyperactivity, ... DECIPHER:39
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Immunodeficiency 8
Hyperactivity OMIM:615401
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Achilles tendon contracture, Adductor longus contractures, Dysm... OMIM:210000
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Gilles De La Tourette Syndrome
Phonic tics, Attention deficit hyperactivity disorder, Motor tics OMIM:137580
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Myoclonus, Limb dystonia OMIM:614860
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal heart morphology, Abno... ORPHA:79262
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... ORPHA:210571
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Parkinsonism, Falls, Short stepped shuffling gait, Elbow flexion co... ORPHA:306692
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Geniospasm 1
Anxiety OMIM:190100
Spinocerebellar Ataxia Type 38
Difficulty walking, Tremor, Gait ataxia ORPHA:423296
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria OMIM:617917
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... ORPHA:98762
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Dystonia, Pa... OMIM:128230
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Dystonia, Bradykinesia, Ankle clonus, Progressive inability to walk, Multiple joint contr... ORPHA:521406
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Primary Dystonia, Dyt2 Type
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Hypertriglyceridemia, Dysmetria OMIM:606721
Huntington Disease-Like 2
Dystonia, Depression, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Acute hyperammonemia, Hypertriglyceridemia, Hypo... ORPHA:247585
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... ORPHA:363710
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Hypoalbuminemia OMIM:208920
Spinocerebellar Ataxia, Autosomal Recessive 17
Unsteady gait, Tremor, Truncal ataxia, Dysmetria OMIM:616127
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity OMIM:615768
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Apathy, Bradykinesia, Falls, Anxiety, Inappropriate behavior, Short stepped shuffling ga... ORPHA:412066
Smith-Magenis syndrome
Stereotypy, Hyperactivity DECIPHER:8
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... ORPHA:251282
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular dystonia, Pa... ORPHA:216873
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... OMIM:270500
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... ORPHA:314978
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Dystonia 13, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor OMIM:615048
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Bradykinesia, Emotional lability, Craniofacial dystonia, Torticollis, An... ORPHA:71517
Spinocerebellar Ataxia Type 28
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Babinski sign, Lim... ORPHA:101109
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Anxiety, Bradykinesia, Depression OMIM:605909
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... OMIM:616053
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Elevated alpha-fetoprotein, Ataxia, Hypoalbuminemia, Elevated cir... ORPHA:64753
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Huntington Disease-Like 1
Aggressive behavior, Depression, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Fasciculations, Tongue fasciculations, Increased int... ORPHA:276435
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Ventricular septal defect, Abnormal pyramidal sign, Ataxia, Unsteady gait... OMIM:614947
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus, Dilated cardiom... ORPHA:324588
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp OMIM:608105
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Weight loss, Progressive cerebellar ataxia, ... ORPHA:248111
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Abnormal social behavior, ... ORPHA:255
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ability to walk, Rigidity, Dystonia OMIM:615010
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatomegaly, Splenomegaly, Frequent falls, Spasticity OMIM:616719
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Babinski sign, Dysmetria OMIM:607458
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Anxiety OMIM:602066
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Dystonia, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Pa... OMIM:604326
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Dystonia, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Oromandibular dystonia, Torticollis, Upper limb postural tremor, Myoclonus, Limb d... ORPHA:420485
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity OMIM:213200
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Dystonia, Rigidity, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Small for gestational... OMIM:261640
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Hypertriglyceridemia, Limb dystonia, Hyperactivity ORPHA:363400
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity OMIM:608747
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Impulsivity, Anxiety, Hyperactivity ORPHA:101039
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia OMIM:603471
Glycerol Kinase Deficiency
Hypertriglyceridemia, Lethargy OMIM:307030
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Hypertonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Parkinsonism, Attention d... OMIM:617384
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Hyperactivity ORPHA:100973
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia OMIM:617862
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Spinocerebellar Ataxia 48
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign OMIM:618093
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Dystonia 16
Postural tremor, Gait disturbance, Abnormal pyramidal sign, Bradykinesia, Laryngeal dystonia, Par... OMIM:612067
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypertonia, Spastic tetraparesis, Hemiparesis, Hyperactivity OMIM:604317
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Myoclonus, Rigidity ORPHA:98763
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... OMIM:213600
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Babinski sign, Clonus OMIM:600363
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Atrial septal defect, Abnormal heart morphology, Hypertonia, ... ORPHA:352490
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Tremor, Ataxia, Spasticity OMIM:300983
Dystonia 7, Torsion
Torsion dystonia, Clumsiness, Blepharospasm, Writer's cramp, Oromandibular dystonia, Torticollis,... OMIM:602124
Neurodegeneration With Brain Iron Accumulation 5
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... OMIM:300894
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia OMIM:618951
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Slurred speech, Gait disturbance, A... ORPHA:93952
Encephalopathy, Recurrent, Of Childhood
Incoordination, Truncal ataxia, Lethargy, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... OMIM:130950
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Oculomotor apr... ORPHA:99750
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Tip-toe ... ORPHA:397946
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Dengue Fever
Hypoproteinemia, Lethargy ORPHA:99828
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Myoclonus, Dysmetria OMIM:619028
Dyskinesia, Familial, With Facial Myokymia
Dystonia, Chorea, Resting tremor, Limb hypertonia, Dilated cardiomyopathy OMIM:606703
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Glut1 Deficiency Syndrome 2
Tremor, Choreoathetosis, Ataxia, Dystonia OMIM:612126
Hyperprolinemia, Type I
Stereotypy, Ataxia, Hyperactivity OMIM:239500
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hypertonia, Failure to thrive, Hyperactivity, Tetraplegia OMIM:274270
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Ataxia, Bradykinesia, Rigidity OMIM:617836
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Blepharospasm, Torsion dystonia, Torticollis OMIM:224500
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Generalized dystonia, Atten... ORPHA:216866
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... ORPHA:231111
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait ORPHA:210128
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia OMIM:612016
Neurodegeneration With Brain Iron Accumulation 3
Tremor, Choreoathetosis, Dystonia, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, L... OMIM:606159
Lopes-Maciel-Rodan Syndrome
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Unsteady gait,... OMIM:617435
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Dysmetria, Steppage gait OMIM:618387
Dystonia 24
Head tremor, Torticollis, Blepharospasm, Oromandibular dystonia OMIM:615034
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Hyperactivity OMIM:182290
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Toe walking, Hypertriglyceridemia, Waddling gait, Elevated circulating creatine... ORPHA:98855
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased... OMIM:618620
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Lcat Deficiency
Hypertriglyceridemia ORPHA:650
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Dystonia, Difficulty walking, Hemiparesis, Bradykinesia, Parkinsonism ORPHA:306669
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Flexion contracture, Babinski sign, Steppage gait, Spasticity OMIM:609260
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Small for gestational age, Failure to thrive, Stereotypy, Hyperactivity OMIM:609425
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia, Ataxia OMIM:617575
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Abnormal posturing, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Kufor-Rakeb Syndrome
Spastic paraplegia, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medica... OMIM:606693
Parkinson Disease 21
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:616361
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Increased circulating free fatty acid level, Elevated ci... ORPHA:26793
Griscelli Syndrome Type 1
Hyperlipidemia, Ataxia ORPHA:79476
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
X-Linked Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Toe walking, Hypertriglyceridemia, Waddling gait, Elevated circulating creatine... ORPHA:98863
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Cardiomegaly, Spasticity OMIM:300886
Glycine Encephalopathy
Lethargy, Myoclonus, Hyperactivity OMIM:605899
Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Toe walking, Hypertriglyceridemia, Waddling gait, Elevated circulating creatine... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Toe walking, Hypertriglyceridemia, Waddling gait, Elevated circulating creatine... ORPHA:98853
Gabriele-De Vries Syndrome
Tremor, Waddling gait, Dystonia OMIM:617557
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations OMIM:618170
Spinocerebellar Ataxia Type 36
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Dysm... ORPHA:276198
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Dystonia, Gait disturbance,... ORPHA:3095
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Failure to thrive, Babinski sign, Broad-based gait ORPHA:477673
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Dystonia, Hypertonia, He... OMIM:618877
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... ORPHA:2590
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:604367
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Dystonia, Lethargy, Rigidity, Hyperkinetic movements, Limb hypertonia, Choreoathetosis OMIM:233910
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus ORPHA:139485
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity ORPHA:85288
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Tongue fasciculations, Myoclonus, Fasciculations, Frequent falls OMIM:159950
Hypermanganesemia With Dystonia 1
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Poor fine mo... OMIM:613280
Infantile Neuronal Ceroid Lipofuscinosis
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Myoclo... ORPHA:79263
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Methylmalonic acidemia, Hyperhomocystinemia, Abnormal posturing OMIM:614857
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf... ORPHA:97355
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Dystonia, Ataxia, Brady... OMIM:615157
Leukodystrophy, Hypomyelinating, 6
Tremor, Dystonia, Rigidity, Ataxia, Choreoathetosis, Spasticity OMIM:612438
Beta-Propeller Protein-Associated Neurodegeneration
Tremor, Dystonia, Spastic paraparesis, Bradykinesia, Parkinsonism, Rigidity ORPHA:329284
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Mental Retardation, Autosomal Recessive 39
Stereotypy, Hyperactivity OMIM:615541
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Mohr-Tranebjaerg Syndrome
Dystonia, Abnormal posturing OMIM:304700
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor OMIM:606658
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance ORPHA:101077
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Gait disturbance, Atax... ORPHA:96
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia ORPHA:101078
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Toe walki... OMIM:302800
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Tremor, Dystonia, Bradykinesia, Limb hypertonia, Oculogyric crisis, Small for gestational age, Ri... ORPHA:70594
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Ankle flexion contracture OMIM:616668
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Resting tremor, Bradykinesia, Rigidity OMIM:614251
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Gait disturbance, Bradykinesia, Dysmetria ORPHA:157941
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Ataxia, Rigidity, Spasticity ORPHA:33445
Hsd10 Disease
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Ataxia, Myoclonus, Choreoathetosis ORPHA:391417
Perry Syndrome
Dystonia, Disinhibition, Akinesia, Depression, Apathy, Bradykinesia, Anxiety, Inappropriate behav... OMIM:168605
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Cog4-Cdg
Hypercholesterolemia, Ataxia ORPHA:263501
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Myoclonus, Intention tremor OMIM:254900
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy, Ventricular septal defect OMIM:618504
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Apraxia, Gait ataxia, Dysmetria, Spasticity OMIM:617810
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Ventricular septal defect, Stereotypy, Patent foramen ovale, Attention defi... OMIM:617044
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Omenn Syndrome
Hypoproteinemia OMIM:603554
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of coordination, Hypertonia, Spastic tetrapares... ORPHA:352649
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Increased blood urea nitrogen ORPHA:94088
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... ORPHA:420492
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... ORPHA:382
Leptospirosis
Hyperproteinemia ORPHA:509
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Abnormality of extrapyramidal motor function, Chorea, A... ORPHA:500180
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady gait, Babinski sign OMIM:616795
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia ORPHA:435660
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dysm... OMIM:614831
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Anxiety, Attention deficit hyperactivity d... ORPHA:64280
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Clumsiness, Trunc... ORPHA:228360
Amyloidosis, Hereditary, Transthyretin-Related
Tremor, Hemiparesis, Ataxia, Cardiomegaly, Paraplegia, Cardiomyopathy, Spasticity OMIM:105210
Laron Syndrome
Hypercholesterolemia ORPHA:633
Parkinsonism-Dystonia, Infantile, 2
Tremor, Gait ataxia, Incoordination, Dystonia, Oculogyric crisis, Parkinsonism, Shuffling gait OMIM:618049
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Neuraminidase Deficiency
Slurred speech, Hepatomegaly, Inguinal hernia, Splenomegaly, Myoclonus, Dysmetria, Cardiomegaly, ... OMIM:256550
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Hyperammonemia, Lethargy, Transient hyperlipi... OMIM:255120
Classic Progressive Supranuclear Palsy Syndrome
Tremor, Dystonia, Axial dystonia, Parkinsonism with favorable response to dopaminergic medication... ORPHA:240071
Developmental And Epileptic Encephalopathy 42
Tremor, Hypertonia, Flexion contracture, Ataxia, Athetosis OMIM:617106
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Pyruvate Dehydrogenase Deficiency
Tremor, Dystonia, Lethargy, Gait disturbance, Abnormal pyramidal sign, Ataxia, Multiple lipomas, ... ORPHA:765
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Lethargy, Cardiomegaly, Failure to thrive in infancy OMIM:619064
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Tremor, Gait disturbance, Ataxia ORPHA:99014
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Inability to walk, Cogwheel rigidity, Gait ataxia, Dystonia, Lethargy, Chorea, Hypertonia, Abnorm... OMIM:607483
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Clumsiness, Truncal ataxia, Spastic ataxia, Difficulty walking, Hypertonia, Poor fine mot... ORPHA:137898
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tics, Hypertonia, Unsteady gait, Failure to thrive, Hyperactivity, Broad-based gait OMIM:617865
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Tetraplegia,... OMIM:616586
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:201100
Gerstmann-Straussler Disease
Tremor, Apraxia, Truncal ataxia, Gait ataxia, Limb ataxia, Bradykinesia, Weight loss, Parkinsonis... OMIM:137440
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait ataxia, Clumsiness, Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Ca... OMIM:619259
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia ORPHA:79237
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis ORPHA:330050
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Depression, Poor eye contact, Self-in... ORPHA:449291
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Hyperlipidemia ORPHA:2089
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Difficulty walking, Slurred speech, Gait dis... ORPHA:206443
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:444002
Carnitine Deficiency, Systemic Primary
Lethargy, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Failure to thrive, Hypertrophic... OMIM:212140
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Abnormal posturing, Gait disturbance, Bradykinesia, Titubation ORPHA:225147
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly, Spasticity OMIM:619170
Spastic Paraplegia 29, Autosomal Dominant
Spastic paraplegia, Hiatus hernia, Upper limb spasticity, Lower limb spasticity, Babinski sign, H... OMIM:609727
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Limb ataxia, Oculomotor apraxia, Bradykinesia, Action tremor... OMIM:183090
Lennox-Gastaut Syndrome
Falls, Myoclonus, Hyperactivity ORPHA:2382
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Neutral Lipid Storage Disease With Ichthyosis
Difficulty walking, Hypertriglyceridemia, Abnormal circulating creatine kinase concentration, Ataxia ORPHA:98907
Smith-Magenis Syndrome
Hypercholesterolemia, Gait disturbance, Hypertriglyceridemia, Attention deficit hyperactivity dis... ORPHA:819
Mohr-Tranebjaerg Syndrome
Inability to walk, Tremor, Apraxia, Dystonia, Attention deficit hyperactivity disorder, Abnormal ... ORPHA:52368
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Tremor, Dystonia, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait OMIM:615530
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Inguinal hernia, Congenital diaphragmatic hernia, Hyperactivity, Abnormal cardiac s... OMIM:614294
Sialidosis Type 2
Tremor, Flexion contracture, Umbilical hernia, Ataxia, Hepatomegaly, Inguinal hernia, Splenomegaly ORPHA:87876
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Limb fasciculations ORPHA:90117
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Tremor, Flexion contracture, Ataxia OMIM:278760
Cockayne Syndrome Type 1
Difficulty walking, Gait disturbance, Increased blood urea nitrogen, Ataxia ORPHA:90321
Chédiak-Higashi Syndrome
Inability to walk, Increased circulating ferritin concentration, Hypoproteinemia, Gait disturbanc... ORPHA:167
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Dystonia, Dysmetria, Failure to thrive, Choreoathetosis, ... OMIM:617988
Alpha-N-Acetylgalactosaminidase Deficiency
Tetraplegia, Clonus, Cardiomegaly, Spasticity ORPHA:3137
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Limb hypertonia, Unsteady gait, ... ORPHA:442835
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Lethargy, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Hsd10 Disease, Infantile Type
Dystonia, Spastic tetraparesis, Poor coordination, Spastic diplegia, Hyperkinetic movements, Loss... ORPHA:391428
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Cardiomegaly OMIM:613576
Attrv30M Amyloidosis
Weight loss, Cardiomegaly, Cardiomyopathy ORPHA:85447
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dysmetria, Spasticity ORPHA:1170
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... ORPHA:101
Multiple System Atrophy
Postural tremor, Gait ataxia, Axial dystonia, Abnormal pyramidal sign, Resting tremor, Bradykines... ORPHA:102
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Dysmetria OMIM:610185
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Trisomy X
Tremor, Attention deficit hyperactivity disorder ORPHA:3375
Optic Atrophy 11
Dysmetria, Hyperkinetic movements, Ataxia, Hyperactivity OMIM:617302
Pelizaeus-Merzbacher Disease
Tremor, Dystonia, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... OMIM:312080
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Steppage gait, Abnormal atrioventricular valve morphology, Aortic valve stenos... ORPHA:324410
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Unsteady gait, Dysmetria OMIM:614867
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Gand Syndrome
Tics, Hyperactivity OMIM:615074
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Perry Syndrome
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration