Gene Summary

Name:
neurexin I
Synonyms:
alpha-latrotoxin receptor (calcium-dependent),  neurexin I beta,  9330127H16Rik,  1700062G21Rik,  A230068P09Rik,  neurexin I alpha

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating total protein level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 2.39×10-05
decreased pulmonary respiratory rate Nrxn1tm1b(KOMP)Wtsi HOM   Early adult 1.93×10-05
decreased circulating cholesterol level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 7.96×10-12
tremors Nrxn1tm1b(KOMP)Wtsi HOM Early adult 5.86×10-09
decreased circulating HDL cholesterol level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 2.11×10-09
decreased circulating alkaline phosphatase level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 8.00×10-08
decreased total body fat amount Nrxn1tm1b(KOMP)Wtsi HOM Early adult 1.78×10-05
decreased fasting circulating glucose level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 9.58×10-05
increased circulating aspartate transaminase level Nrxn1tm1b(KOMP)Wtsi HOM   Early adult 7.87×10-05
tremors Nrxn1tm1b(KOMP)Wtsi HET   Early adult 2.99×10-05
increased circulating amylase level Nrxn1tm1b(KOMP)Wtsi HET Early adult 2.53×10-06
decreased grip strength Nrxn1tm1b(KOMP)Wtsi HOM   Early adult 2.09×10-06
decreased circulating serum albumin level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 6.20×10-05
abnormal bone structure Nrxn1tm1b(KOMP)Wtsi HOM Early adult 3.50×10-05
increased lean body mass Nrxn1tm1b(KOMP)Wtsi HET Early adult 4.07×10-05
impaired glucose tolerance Nrxn1tm1b(KOMP)Wtsi HOM   Early adult 1.73×10-05

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 50% (1 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

26 Images

Echo

M-Mode Images

64 Images

X-ray

XRay Images Whole Body Dorso Ventral

26 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

26 Images

Adult LacZ

LacZ Images Wholemount

7 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Nrxn1 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.

The table below shows human diseases associated to Nrxn1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325

The table below shows human diseases predicted to be associated to Nrxn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Elevated circulating creatine kinase concentration, Babinski sign, ... OMIM:160120
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
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
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
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis... OMIM:616000
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Glutathionuria
Tremor OMIM:231950
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia OMIM:264070
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Babinski sign ORPHA:401840
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Spastic dysarthria, Ataxia, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia, Bronchiectasis OMIM:241600
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Hypercholesterole... ORPHA:64753
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Hyperinsulinism Due To Glucokinase Deficiency
Hand tremor, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II ... ORPHA:79299
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Flexion contracture, Tremor, Respiratory insufficiency, Apnea, Hypertonia OMIM:608093
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Choreoathetosis, Hypercholesterolemia, Oculomotor apraxia, Ataxia, Gait ataxia, Truncal... OMIM:208920
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Limb fasciculations, Respiratory failure, Cou... ORPHA:90117
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Diabetes mellitus, Hypertriglyceridemia, Gluc... OMIM:610947
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Nephrotic Syndrome, Type 1
Neonatal respiratory distress, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Hypoalbuminemia ORPHA:88643
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:615048
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Osteopenia, Myoclonus, Intention tremor OMIM:610539
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased ... ORPHA:86816
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypertonia, Hypoproteinemia, Hyponatremia, Ataxia, ... OMIM:267700
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Dystonia, Dopa-Responsive
Incoordination, Transient hyperphenylalaninemia, Dystonia, Resting tremor, Bradykinesia, Cogwheel... OMIM:128230
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Pneumonia, Hypocalcemia, Tachypnea, Episodic tachypnea, Elevated circulating cre... ORPHA:26793
Congenital Lethal Erythroderma
Respiratory insufficiency, Hypoalbuminemia ORPHA:1954
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Tremor, Acute ... ORPHA:247585
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Elevated circulating creatine kinase concentration... OMIM:612953
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Ataxia, Myoclonus, Tremor OMIM:614018
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Osteoporosis, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor OMIM:615528
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hypertriglyceridemia, Myoclo... OMIM:615924
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Hypoproteinemia, Pneumonia, Hypoalbuminemia OMIM:226300
Dystonia 23
Axial dystonia, Head tremor, Limb dystonia, Torticollis, Writer's cramp, Myoclonus OMIM:614860
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Ataxia, Tetraplegia,... OMIM:603553
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Restrictive ventilatory defect, Cough, Hypertriglyceridemia OMIM:619013
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Dengue Fever
Hypoproteinemia, Cardiorespiratory arrest, Epistaxis ORPHA:99828
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Flexion contracture, Respiratory failure, Respiratory insufficiency, Elevated circulating creatin... OMIM:613869
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Elevated circulating creatine kinase concentration, Tongue fasciculations, Increa... ORPHA:276435
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypoglycemia, Ataxia, Hypertriglyceridemia OMIM:617575
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Hypermanganesemia, Sc... ORPHA:521406
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Hyperphenylalaninemia, Myoclonus, Hypertonia OMIM:261630
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Tachypnea, Elevated circulating C-reactive protein concentration,... OMIM:616414
Alg6-Cdg
Ataxia, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor OMIM:614203
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Dystonia, Myoclonus, Tremor OMIM:619651
Omenn Syndrome
Hypoproteinemia, Pneumonia OMIM:603554
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Insulin resistance, Hyperinsulinemia, Reduced intraabdomin... ORPHA:363400
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Bradykinesia, Limb dystonia, Torticollis, Postural tremor ORPHA:210571
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Tremor OMIM:616710
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Ata... OMIM:261640
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Hypoalbuminemia, Periostosis OMIM:614441
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Tremor OMIM:182920
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Limb dystonia, Vocal tremor, Torticollis, Upper limb postural tremor,... ORPHA:420485
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Elevated circulating C-reactive protein con... ORPHA:454836
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Abnormal bronchus physiology OMIM:209950
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
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Ataxia, Elevated circulating creatine kinase concentration, Gait ataxia, Tremor OMIM:618387
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Pneumonia, Insulin resistance, Hyperinsu... ORPHA:2298
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating suberic acid concentration, Elevated circulating fumarate conc... OMIM:615160
Alg1-Cdg
Respiratory failure, Hypoalbuminemia ORPHA:79327
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Pulmonary embolism, Hypoalbuminem... ORPHA:567548
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Pleural effusion, Hypoalbuminemia, Hypomagnesemia ORPHA:90362
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Babinski sign, Parkinsonism with favorable res... ORPHA:314632
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... ORPHA:251282
Chronic Bilirubin Encephalopathy
Hypernatremia, Cerebral palsy, Hypoalbuminemia, Central apnea, Neonatal hyperbilirubinemia, Hyper... ORPHA:529808
Acute Bilirubin Encephalopathy
Cerebral palsy, Hypoalbuminemia, Central apnea, Hypernatremia, Neonatal hyperbilirubinemia, Hyper... ORPHA:529799
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Tremor OMIM:615768
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Action tremor, Intention tremor, Spastic dysarthria, Nonprogressive cerebellar at... ORPHA:314978
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
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Ataxia, Tremor OMIM:614307
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, ... OMIM:619405
Johanson-Blizzard Syndrome
Hypoproteinemia, Diabetes mellitus ORPHA:2315
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Neonatal hypoglycemia, Spastic tetraplegia, Elevated circulating creatine kinase co... OMIM:619055
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Choreoathetosis, Dystonia, Ataxia, Spasticity, Oculomotor apraxi... OMIM:612716
Saccharopinuria
Hyperlysinemia, Abnormality of circulating enzyme level, Elevated plasma citrulline, Hypercystine... ORPHA:3124
Eosinophilic Gastroenteritis
Asthma, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Hypoalbuminemia... ORPHA:2070
Huntington Disease-Like 2
Action tremor, Dystonia, Bradykinesia, Rigidity, Chorea, Weight loss OMIM:606438
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Tremor OMIM:616127
Neurodegeneration With Brain Iron Accumulation 3
Parkinsonism, Dystonia, Choreoathetosis, Decreased circulating ferritin concentration, Blepharosp... OMIM:606159
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Spinocerebellar Ataxia 12
Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progressive cerebellar ataxi... OMIM:604326
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Dystonia 7, Torsion
Torsion dystonia, Hand tremor, Blepharospasm, Torticollis, Clumsiness, Writer's cramp, Oromandibu... OMIM:602124
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Hypoalbuminemia OMIM:608104
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Generalized lipodystrophy,... OMIM:612526
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Dysmetria, Spastic gait, Ataxia, Elevated circulating creatine kinase conce... ORPHA:96180
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Respiratory failure, Spasticity, Hypoalbuminemia, Respiratory insufficiency, Hypera... OMIM:618329
Dystonia 24
Torticollis, Blepharospasm, Head tremor, Oromandibular dystonia OMIM:615034
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor OMIM:619561
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Resting tremor, Bradykinesia, Rigidity OMIM:605909
Spinocerebellar Ataxia 23
Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Abnormal circulating histidine concentration, Truncal ataxia ORPHA:210128
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Elevated circulating C-reactive protein con... ORPHA:36238
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Tremor OMIM:617917
Spinocerebellar Ataxia 48
Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Cachexia, Babinski sign, Tremor OMIM:618093
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concent... OMIM:615703
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor ORPHA:363710
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Osteoporosis, Steatorrhea OMIM:266510
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Clonus, Babinski sign, Tremor OMIM:600363
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Blepharospasm, Torticollis, Tremor OMIM:224500
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Small for gestational age, Tremor OMIM:278780
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor, Periodic paralysis OMIM:609153
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Hypocalcemia, Hypoproteinemia OMIM:235255
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Spinocerebellar Ataxia Type 14
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myoclonus, Tremor ORPHA:98763
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Respiratory failure, Elevated circulating creatine kinas... ORPHA:88618
Leishmaniasis
Rhinitis, Hypoalbuminemia ORPHA:507
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Torticollis, Tremor OMIM:128235
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Osteopenia, Ataxia, Abnormal subcutaneous fat tissue distribution, Hypoalbum... OMIM:212065
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Parkinsonism, Spasti... ORPHA:167
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Acute Lung Injury
Pneumonia, Hypoxemia, Tachypnea, Elevated circulating C-reactive protein concentration, Respirato... ORPHA:178320
Aicardi-Goutieres Syndrome 6
Rigidity, Dystonia, Tremor OMIM:615010
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Babinski sign, Tremor OMIM:210000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Respiratory distress, Flexion contracture, Hypoalbuminemia ORPHA:367
Tetanus
Hypertonia, Opisthotonus, Spasticity of pharyngeal muscles, Tachypnea, Elevated circulating creat... ORPHA:3299
Abetalipoproteinemia
Dysmetria, Osteopenia, Hypotriglyceridemia, Respiratory failure, Ataxia, Decreased HDL cholestero... ORPHA:14
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... OMIM:618156
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Tremor OMIM:213200
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Ataxia, Tremor OMIM:618951
Citrullinemia Type I
Elevated plasma citrulline, Tachypnea, Ataxia, Hyperammonemia, Spasticity, Torticollis, Slurred s... ORPHA:247525
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Glut1 Deficiency Syndrome 2
Ataxia, Dystonia, Choreoathetosis, Tremor OMIM:612126
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Involuntary movements, Mildly elevated creatine kinase, Ataxia, Progres... ORPHA:401768
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Abnormality of extrapyramida... OMIM:300894
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Tremor OMIM:619099
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Tremor ORPHA:79234
Leukodystrophy, Hypomyelinating, 11
Ataxia, Failure to thrive, Spasticity, Myoclonus, Tremor OMIM:616494
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... ORPHA:158061
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Spasticity, Chorea, Babinski sign, Abnormality of extra... OMIM:164500
Hypermanganesemia With Dystonia 2
Ankle clonus, Achilles tendon contracture, Parkinsonism, Opisthotonus, Dystonia, Generalized dyst... OMIM:617013
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Fasciculations, Tremor OMIM:313200
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Obesity, Ataxia, Tremor OMIM:614947
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Hypocalcemia, Hypoproteinemia ORPHA:1655
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Ataxia, Tremor OMIM:617862
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Episo... ORPHA:3095
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Myoclonus, Tremor OMIM:612016
Bacterial Toxic-Shock Syndrome
Cellulitis, Sinusitis, Pneumonia, Elevated circulating creatinine concentration, Hypocalcemia, Ta... ORPHA:36234
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Rickets, Steatorrhea OMIM:607765
Amoebiasis Due To Entamoeba Histolytica
Pleural effusion, Cough, Dyspnea, Hypoalbuminemia, Pleural empyema ORPHA:67
Potocki-Lupski Syndrome
Sleep apnea, Hypocholesterolemia OMIM:610883
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Hypertonia, Dystonia, Spastic tetraplegia, Osteoporosis, Lower limb hyperto... OMIM:619487
Pyruvate Dehydrogenase Deficiency
Multiple lipomas, Abnormal pyramidal sign, Dystonia, Choreoathetosis, Tachypnea, Osteolytic defec... ORPHA:765
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Frequent falls, Dysmetria, Intention tremor, Fasciculations, Gait ataxia... ORPHA:397946
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Rigidity, Chorea, Dysdi... OMIM:213600
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, ... ORPHA:1667
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Dyspnea, Diabetes mellitu... ORPHA:90041
Congenital Enterovirus Infection
Respiratory distress, Hypoalbuminemia, Pleural effusion, Hyperammonemia ORPHA:292
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Unconjugated hyperbilirubinemia, Hyper... OMIM:613280
Cystathioninuria
Cystathioninemia, Tremor ORPHA:212
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Hand tremor, Resting tremor, Focal dystonia, Blepharospasm, Bra... ORPHA:53351
Aceruloplasminemia
Increased circulating ferritin concentration, Parkinsonism, Dystonia, Decreased serum iron, Bleph... ORPHA:48818
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Spastic paraparesis, Bradykinesia, Cogwheel rigidity, Spasticity, Scissor gait, B... ORPHA:363654
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... OMIM:617145
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Rigidity, Tremor OMIM:617836
Alg12-Cdg
Recurrent pneumonia, Hyponatremia, Chronic rhinitis, Recurrent hypoglycemia, Abnormal bone ossifi... ORPHA:79324
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Hypoglycemia, Osteopenia, Hypocalcemia, Tachypnea, Respiratory failure, Cough, Inguina... OMIM:613658
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Reduced forced expiratory volume in one second, Intraalveolar pho... OMIM:300770
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Parkinsonism, Oculogyric crisis, Tremor, Hyperphenylalaninemia, Cerebral palsy, Abnormal circulat... ORPHA:1578
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Hypercholest... ORPHA:2457
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor OMIM:612438
Parkinson Disease 21
Rigidity, Parkinsonism, Bradykinesia, Tremor OMIM:616361
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Choreoathetosis, Limb hypertonia, Hyperphenylalaninemia, Rigidity, Hyperkinetic movemen... OMIM:233910
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Ataxia, Gait ataxia, Spasticity, Tremor OMIM:616719
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Tachypnea, Hyperalaninemia, Hyperammonemia OMIM:615751
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Lower limb spasticity, Ataxia, Myoclonus, Tremor OMIM:619028
Familial Dyskinesia And Facial Myokymia
Dystonia, Resting tremor, Limb hypertonia, Chorea, Myoclonus ORPHA:324588
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Decreased plasma carnitine, Tachypnea, Elevated circulating creatine kin... OMIM:201475
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Elevated transferrin saturation, Diabetes mellitus,... OMIM:606069
Epilepsy, Familial Adult Myoclonic, 3
Myoclonus, Tremor OMIM:613608
X-Linked Sideroblastic Anemia
Glucose intolerance, Dyspnea, Abnormality of iron homeostasis ORPHA:75563
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Methionine Malabsorption Syndrome
Tachypnea, Positive ferric chloride test OMIM:250900
Parkinson-Dementia Syndrome
Rigidity, Abnormal pyramidal sign, Parkinsonism, Tremor OMIM:260540
Propionic Acidemia
Hypoglycemia, Dystonia, Tachypnea, Limb hypertonia, Osteoporosis, Hyperglycinemia, Apnea, Hyperam... OMIM:606054
Xfe Progeroid Syndrome
Corneal scarring, Enamel hypoplasia, Poor coordination, Absence of subcutaneous fat, Hypoalbuminemia OMIM:610965
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Pleural effusion, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Refractory Anemia With Excess Blasts
Exertional dyspnea, Abnormal circulating albumin concentration, Abnormal circulating protein conc... ORPHA:86839
Multiple Carboxylase Deficiency
Spastic paraparesis, Tachypnea, Ataxia, Respiratory distress, Hyperammonemia ORPHA:148
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Spasticity, Ankle clonus OMIM:617435
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Chorea, Dystonia, Resting tremor, Limb hypertonia OMIM:606703
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor OMIM:618587
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent pneumonia, Flexion contracture, Hypoalbuminemia OMIM:617303
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia, Myoclonus, Tremor ORPHA:139485
Acute Interstitial Pneumonia
Nonproductive cough, Hypoxemia, Elevated circulating creatinine concentration, Crackles, Tachypne... ORPHA:79126
Urocanase Deficiency
Ataxia, Tremor OMIM:276880
Morgagni-Stewart-Morel Syndrome
Action tremor, Hypercholesterolemia, Osteoporosis, Hyperuricemia, Diabetes mellitus, Hyperostosis... ORPHA:77296
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypoalbuminemia, Hypertriglyceridemia ORPHA:540
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Pulmonary embolism, Pleural effusion, Dyspnea, Hypoalbuminemia ORPHA:567546
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Dysmetria, Dystonia, Apraxia, Spastic paraparesis, Bradykinesia, Ataxia, Dysdiado... OMIM:615157
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Action tremor, Dystonia, Parkinsonism, Ataxia, Chorea, Hyperkinetic movements, Tremor OMIM:619738
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Rigidity, Dysmetria, Tremor OMIM:618090
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Parkinsonism, Dystonia, Resting tremor, Intention tremor, Bradykinesia, Ataxia, Cogwheel rigidity... OMIM:619725
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Bradykinesia, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:240085
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Resting tremor, Bradykinesia OMIM:614251
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Tremor ORPHA:329284
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Abnormal blood ion concentration, Hypocalcemia, Interstitial pneumonitis, Hypoalbumine... ORPHA:37042
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Small for gestational age, Oculogyric crisis, Bradykinesia, Limb hypertonia, Cerebral p... ORPHA:70594
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Decreased adipose tissue around neck, Loss... OMIM:608612
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Apneic episodes in infancy, Episodic t... ORPHA:348
Infantile Neuronal Ceroid Lipofuscinosis
Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Spasticity, Chorea, Clumsiness, Poor fine motor co... ORPHA:79263
Perry Syndrome
Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss, Tremor ORPHA:178509
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Gait ataxia, Ri... OMIM:618877
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Hemiparesis, Tremor ORPHA:306669
Neuroectodermal Melanolysosomal Disease
Tremor, Ataxia, Rigidity, Spasticity, Hypertonia ORPHA:33445
Oculopharyngodistal Myopathy 3
Elevated circulating creatine kinase concentration, Ataxia, Tremor OMIM:619473
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Tracheomalacia, Tachypnea, Dyspnea, Atelectasis, Upper ... ORPHA:60032
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hyperinsulinemia, Hypercholesterolemia, Loss of truncal subcutaneous adipose tissu... OMIM:151660
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Fasciculations, Tongue fasciculations, Myoclonus, Tremor OMIM:159950
Al Amyloidosis
Nonproductive cough, Dyspnea, Obstructive sleep apnea, Hypoalbuminemia, Increased circulating NT-... ORPHA:85443
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Hypoketotic hypoglycemia, Hyperins... ORPHA:276608
Secondary Intestinal Lymphangiectasia
Pleural effusion, Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin ... ORPHA:90363
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Spasticity OMIM:618810
Galloway-Mowat Syndrome 3
Hiatus hernia, Camptodactyly, Spasticity, Hypoalbuminemia OMIM:617729
Galloway-Mowat Syndrome 1
Hiatus hernia, Dystonia, Spastic tetraplegia, Ataxia, Spasticity, Hypoalbuminemia, Camptodactyly,... OMIM:251300
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Focal dystonia, Extrapyramidal muscular rigidity, Blepharo... ORPHA:99750
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Tachypnea, Ataxia, Hyperglycemia, Tremor OMIM:220111
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Pleural effusion, Hypoalbuminemia, Umbilical hernia, Camptodactyly, Joi... OMIM:235510
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Respiratory failure, Respiratory insufficiency due to muscle we... ORPHA:2590
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... ORPHA:186
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Pleural effusion, Hyper... ORPHA:29073
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor OMIM:618637
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia, Spastic tetrapleg... OMIM:300055
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Ataxia, Tremor OMIM:300983
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Ataxia, Tremor OMIM:617831
Pyruvate Carboxylase Deficiency
Hypernatremia, Abnormal pyramidal sign, Hypertaurinemia, Hyperlysinemia, Dystonia, Hypoglycemia, ... ORPHA:3008
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Myopathy With Extrapyramidal Signs
Hyperlysinemia, Dystonia, Frequent falls, Choreoathetosis, Ataxia, Hypervalinemia, Elevated circu... OMIM:615673
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor OMIM:616668
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Dystonia, Resting tremor, Involuntary movements, Bradykinesia, Slowed sl... ORPHA:391411
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Dyspnea, Hyperbilirubinemia, Hypoalbumine... ORPHA:88673
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Airway obstruction, Hernia, Pulmonary arterial hypertension, Stridor, Hypoal... ORPHA:505248
Kufor-Rakeb Syndrome
Hypertonia, Parkinsonism, Dystonia, Bradykinesia, Spastic paraplegia, Ataxia, Paraparesis, Rigidi... OMIM:606693
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Flexion contracture, Atypical scarring of skin, Decreased serum iron, Decre... ORPHA:89842
Peroxisome Biogenesis Disorder 5B
Dysmetria, Ataxia, Oculomotor apraxia, Elevated levels of phytanic acid, Tremor OMIM:614867
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Tremor ORPHA:101075
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Ataxia, Hypertriglyceridemia ORPHA:158048
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Ataxia, Hyperammonemia ORPHA:79242
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Hypophosphatemic ricke... ORPHA:263455
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Ataxia, Gait ataxia, Dysdiadochokinesis, Tremor OMIM:614831
Hsd10 Disease
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Myoclonus, Tremor ORPHA:391417
Beta-Ketothiolase Deficiency
Extrapyramidal dyskinesia, Hypoglycemia, Tachypnea, Ataxia, Cough, Hyperuricemia, Spasticity, Hyp... ORPHA:134
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Nonspecific interstitial pneumonia, Hypoxemia, Intraalveolar phospholipid ac... OMIM:610913
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Parkinsonism, Dystonia, Oculogyric crisis, Gait ataxia, Tremor OMIM:618049
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
Neuroferritinopathy
Parkinsonism, Dystonia, Resting tremor, Focal dystonia, Decreased circulating ferritin concentrat... ORPHA:157846
Joubert Syndrome 7
Neonatal breathing dysregulation, Episodic tachypnea, Tachypnea, Ataxia, Central apnea, Oculomoto... OMIM:611560
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnormality of extrapyramidal motor functio... ORPHA:98773
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Ataxia, Knee flexion contracture, Elevated circulating creatine kinase... OMIM:608799
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Adult-Onset Distal Myopathy Due To Vcp Mutation
Frequent falls, Parkinsonism, Fasciculations, Mildly elevated creatine kinase, Reduced vital capa... ORPHA:329478
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Tachypnea, Respiratory distress ORPHA:45452
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Dystonia, Hypoxemia, Choreoathetosis, Oxygen desaturation on exer... OMIM:610978
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Enamel hypoplasia, Hypoalbuminemia, Scarring, Atrophic scars ORPHA:79396
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Gerstmann-Straussler Disease
Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, Spasticity, Limb atax... OMIM:137440
Dystonia 1, Torsion, Autosomal Dominant
Torsion dystonia, Hypertonia, Blepharospasm, Torticollis, Writer's cramp, Tremor OMIM:128100
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Tachypnea, Methylmalonic acidemia, Inguinal hernia, Pulmonary arterial hyper... OMIM:614857
Spinocerebellar Ataxia 8
Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity, Tremor OMIM:608768
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Ataxia, Babinski sign, Spastic ataxia, Tremor OMIM:616795
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Tremor ORPHA:101078
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Blepharospasm, Involuntary movements, Ataxia, Progress... ORPHA:101
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Failure to thrive, Babinski sign, Spastic paraplegia, Tremor ORPHA:477673
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dysmetria, Ataxia, Gait ataxia, Poor motor coordination, Spasticity, Oculomotor apraxia, Tremor ORPHA:1170
Dopa-Responsive Dystonia
Parkinsonism, Dystonia, Generalized dystonia, Oculogyric crisis, Leg dystonia, Poor coordination,... ORPHA:255
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Elevated hemoglobin A1c, ... ORPHA:552
Congenital Bile Acid Synthesis Defect Type 4
Elevated circulating creatine kinase concentration, Ataxia, Type II diabetes mellitus, Tremor ORPHA:79095
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Tetraparesis, Abnormal pyramidal sign, Action tremor, Opisthotonus, Dystonia, Frequent falls, Cra... OMIM:607483
Sialidosis Type 2
Flexion contracture, Osteoporosis, Ataxia, Dyspnea, Inguinal hernia, Umbilical hernia, Tremor ORPHA:87876
Brain Dopamine-Serotonin Vesicular Transport Disease
Spastic tetraparesis, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Ataxia, Limb dystoni... ORPHA:352649
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Dysmetria, Dystonia, Hypertonia, Ataxia, Diabetes mellitus, Dysdiadochok... ORPHA:96
Adult-Onset Dystonia-Parkinsonism
Dystonia, Focal dystonia, Bradykinesia, Rigidity, Spasticity, Progressive extrapyramidal movement... ORPHA:199351
Primary Sclerosing Cholangitis
Osteopenia, Osteoporosis, Pleural effusion, Hypoalbuminemia, Type I diabetes mellitus ORPHA:171
Glycosylphosphatidylinositol Biosynthesis Defect 15
Dysmetria, Apraxia, Gait ataxia, Spasticity, Tremor OMIM:617810
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysmetria, Dysdiadochokinesis, Tremor OMIM:610185
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Respiratory failure, Tremor, Apnea, Hypertonia OMIM:617248
Pierson Syndrome
Hypoproteinemia OMIM:609049
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
4H Leukodystrophy
Dysmetria, Dystonia, Ataxia, Upper motor neuron dysfunction, Progressive gait ataxia, Dysdiadocho... ORPHA:289494
Spastic Paraplegia 9B, Autosomal Recessive
Pseudobulbar paralysis, Spastic paraplegia, Tetraplegia, Spasticity, Babinski sign, Tremor OMIM:616586
Jaberi-Elahi Syndrome
Dysmetria, Dystonia, Choreoathetosis, Gait ataxia, Failure to thrive, Spasticity, Tremor OMIM:617988
Neurodegeneration With Brain Iron Accumulation 4
Parkinsonism, Dystonia, Oromandibular dystonia, Ataxia, Elevated circulating creatine kinase conc... OMIM:614298
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation, Hyperammonemia, Hypertonia OMIM:253270
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Parkinsonism, Myoclonic spasms, Motor stereotypy, Episodic tachypnea, Poor ... ORPHA:79264
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Tachypnea, Cough, Respiratory distress OMIM:263000
X-Linked Charcot-Marie-Tooth Disease Type 5
Paraparesis, Ataxia, Tremor ORPHA:99014
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Elevated alpha-fetoprotein, Dystonia, Ataxia, Oculomotor apraxia, Glucose intolerance, Impaired g... OMIM:208910
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Spastic dysarthria, Bradykinesia, Progressive cerebellar ataxia, Gait at... ORPHA:282166
Developmental And Epileptic Encephalopathy 42
Hypertonia, Athetosis, Ataxia, Tremor OMIM:617106
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Resting tremor, Obesity, Lower limb spasticity, Tremor ORPHA:3077
Marburg Hemorrhagic Fever
Nonproductive cough, Hypokalemia, Hypoglycemia, Elevated circulating creatinine concentration, Hy... ORPHA:99826
Spinocerebellar Ataxia Type 27
Hand tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Tremor ORPHA:98764
Juvenile Polyposis Syndrome
Multiple lipomas, Hypoproteinemia, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertens... ORPHA:2929
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated alpha-fetoprotein, Abnormal pyramidal sign, Dystonia, Head tremor, Oculomotor apraxia, E... OMIM:606002
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Intention tremor, Spast... OMIM:312080
Surfactant Metabolism Dysfunction, Pulmonary, 3
Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Intraalveolar phospholipid a... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Respiratory failure, Tachypnea, Dyspnea, Pulmonary arter... OMIM:265120
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respiratory distres... ORPHA:91359
Ataxia-Telangiectasia
Elevated alpha-fetoprotein, Sinusitis, Dystonia, Choreoathetosis, Ataxia, Bronchiectasis, Diabete... OMIM:208900
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Frequent falls, Dysmetria, Hand tremor, Paraparesis, Babinski sign, Tremor OMIM:302800
Parkinson Disease 8, Autosomal Dominant
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Parkinsonism with favorable response to dop... OMIM:607060
Cholera
Hypokalemia, Hypoglycemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Tachypne... ORPHA:173
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Ataxia, Tremor OMIM:278760
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mildly elevated creatine kinase, Tremor ORPHA:397744
Sneddon Syndrome
Chorea, Hemiparesis, Tremor ORPHA:820
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Ataxia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Ataxia, Gait ataxia, Myoclonus, Hypertonia OMIM:619092
Cardiocranial Syndrome, Pfeiffer Type