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 serum albumin level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 6.15×10-05
decreased fasting circulating glucose level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 9.62×10-05
decreased grip strength Nrxn1tm1b(KOMP)Wtsi HOM   Early adult 2.09×10-06
impaired glucose tolerance Nrxn1tm1b(KOMP)Wtsi HOM   Early adult 1.78×10-05
increased circulating amylase level Nrxn1tm1b(KOMP)Wtsi HET Early adult 2.38×10-06
decreased pulmonary respiratory rate Nrxn1tm1b(KOMP)Wtsi HOM Early adult 2.22×10-05
increased lean body mass Nrxn1tm1b(KOMP)Wtsi HET Early adult 4.36×10-05
decreased circulating HDL cholesterol level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 1.83×10-09
tremors Nrxn1tm1b(KOMP)Wtsi HOM Early adult 5.76×10-09
decreased circulating total protein level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 2.39×10-05
decreased total body fat amount Nrxn1tm1b(KOMP)Wtsi HOM Early adult 1.56×10-05
increased circulating aspartate transaminase level Nrxn1tm1b(KOMP)Wtsi HOM   Early adult 7.88×10-05
tremors Nrxn1tm1b(KOMP)Wtsi HET   Early adult 2.97×10-05
decreased circulating alkaline phosphatase level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 1.07×10-07
decreased circulating cholesterol level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 6.57×10-12
abnormal bone structure Nrxn1tm1b(KOMP)Wtsi HOM Early adult 3.64×10-05

Download data as:  TSV  XLS

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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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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 Skull Dorso Ventral Orientation

26 Images

Echo

M-Mode Images

64 Images

X-ray

XRay Images Whole Body Dorso Ventral

26 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

26 Images

MicroCT E18.5

Embryo reconstruction

3 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
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
Spastic gait, Babinski sign, Incoordination, Tremor, Elevated circulating creatine kinase concent... OMIM:160120
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Diarrhea 13
Hypoalbuminemia, Recurrent hypoglycemia OMIM:620357
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Elevated circulating creatine kinase concentration, Gait atax... ORPHA:309169
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Hyperphenylalaninemia, Tremor, Transient hyperphenylalaninemia OMIM:264070
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Spastic dysarthria, Hypoalbuminemia, Hypercholesterolemia, Ataxia ORPHA:94124
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Babinski sign, Oculomotor apraxia, Elevated circulating creatine kinase concentration, Head tremo... ORPHA:64753
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Chorea, Truncal ataxia, Tremor, Elevated circulating creatine ki... OMIM:208920
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra... OMIM:614561
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia, Ataxia OMIM:607250
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Congenital Disorder Of Glycosylation, Type Ij
Hypertonia, Hypoproteinemia, Tremor, Apnea, Flexion contracture OMIM:608093
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:615048
Ataxia-Oculomotor Apraxia 4
Oculomotor apraxia, Tetraplegia, Dystonia, Ataxia, Elevated circulating alpha-fetoprotein concent... OMIM:616267
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Lipodystrophy, Hypoalbuminemia, Increased alpha-globulin, Hyperc... ORPHA:86816
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis ORPHA:88643
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertonia, Increased LDL choleste... OMIM:267700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia, Intention tremor, Myoclonus OMIM:610539
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle clonus, Spastic parapare... OMIM:616053
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Transient hyperphenylalaninemia, Restin... OMIM:128230
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Respiratory distress, Hypocalcemia, Hypoproteinemia, Elevated circulati... ORPHA:26793
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls OMIM:616921
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Tremor, Chorea ORPHA:494526
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Osteop... OMIM:610947
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Myoclonus OMIM:614860
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypertonia, Tetraplegia, Hypoproteinemia, Hemiplegia, Increased total bilir... OMIM:603553
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, T... OMIM:615924
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... OMIM:620632
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Lower Motor Neuron Syndrome With Late-Adult Onset
Increased intramuscular fat, Fasciculations, Tongue fasciculations, Tremor, Elevated circulating ... ORPHA:276435
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor OMIM:182980
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia ORPHA:79320
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Postural tremor ORPHA:210571
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Tremor, Dystonia, Myoclonus OMIM:619651
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Abnormal circula... OMIM:213600
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech OMIM:609161
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Intention tremor, Action t... ORPHA:98762
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Phoar2-Enteropathy Syndrome
Hyperostosis, Hypoalbuminemia, Periostosis OMIM:614441
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Increased serum pyruvate, Hyperalaninemia, Hyper... OMIM:615160
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Hyperphenylalaninemia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia... ORPHA:216873
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia, Ataxia OMIM:617575
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Ankle clonus OMIM:615768
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypoproteinemia ORPHA:2315
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Lower limb spasticity, ... ORPHA:251282
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Chronic Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Central ... ORPHA:529808
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Acute Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Central ... ORPHA:529799
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Dystonia 28, Childhood-Onset
Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst... OMIM:617284
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Dengue Fever
Hypoproteinemia ORPHA:99828
Saccharopinuria
Elevated plasma citrulline, Tremor, Hypercystinemia, Hyperlysinemia, Gait ataxia, Hyperammonemia,... ORPHA:3124
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Elevated circulating creatine kinase concentration, Abnormal glucose... ORPHA:90117
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus OMIM:614018
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Generalized lipodystrophy, Spasticity, Tremor, Poor motor... ORPHA:363400
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... OMIM:620211
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Fasciculations, Tetraplegia, Hyperlipidemia, Hyperglycemia, Mildly elevated creatine kinase, Hand... OMIM:604484
Spinocerebellar Ataxia 48
Babinski sign, Cachexia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Lipodystrophy OMIM:608776
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Clonus, Myoclonus, Spa... OMIM:619055
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemi... OMIM:620085
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Choreoath... OMIM:606159
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Elevated circulating creatine kinase concentration, Gait ataxia, Ataxia, Dysmetria OMIM:618387
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fastin... ORPHA:2298
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Osteoporosis, Elevated circulating phytanic acid concentration, Ataxia, Hypocholeste... OMIM:266510
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism OMIM:128235
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Myoclonus OMIM:615400
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissu... OMIM:612526
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Decreased serum creatinine, Progressive e... OMIM:612736
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Spinocerebellar Ataxia Type 37
Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Phenylketonuria
Osteopenia, Lower limb spasticity, Hyperphenylalaninemia, Tremor, Ataxia ORPHA:716
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Increased serum pyruvate, Titubation, Elevated circulating creatine kinase concentration,... OMIM:619405
Maternal Uniparental Disomy Of Chromosome 4
Spastic gait, Chaddock reflex, Elevated circulating creatine kinase concentration, Abetalipoprote... ORPHA:96180
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia OMIM:600363
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Inguinal hernia OMIM:235255
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Urocanic Aciduria
Abnormal circulating histidine concentration, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Small for gestational age OMIM:278780
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Steatorrhea, Hypoalbuminemia OMIM:602579
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Tremor, Dystonia, Ataxia, Choreoathetosis OMIM:612126
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Spasticity, Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia,... OMIM:617093
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Osteopenia, Steatorrhea, Tremor, Intention tremor,... OMIM:212065
Avian Influenza
Elevated circulating C-reactive protein concentration, Respiratory distress, Elevated circulating... ORPHA:454836
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Intention tremor, Action tremor, Gait ataxia, Myoclonus, Postural tremor, Hypoalbuminemia OMIM:254900
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Involuntary movements, Prog... ORPHA:401768
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Neurodegeneration With Brain Iron Accumulation 7
Increased circulating very long-chain fatty acid concentration, Lower limb spasticity, Tremor, Dy... OMIM:617916
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Spasticity, Tremor, Intention tre... OMIM:614307
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Failure to thrive, Ataxia, Myoclonus OMIM:616494
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Elevated circulating creatine kinase concentration OMIM:313200
Citrullinemia Type I
Elevated plasma citrulline, Torticollis, Spasticity, Hyperammonemia, Ataxia, Ankle clonus, Tachyp... ORPHA:247525
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Tremor, Elevated circulating creatine kinase concentration, Frequent falls... OMIM:159950
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea, Elevated circulating C-reactive protein concentration OMIM:616414
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Tetanus
Hypertonia, Respiratory distress, Tremor, Elevated circulating creatine kinase concentration, Rig... ORPHA:3299
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Hyperphenylalaninemia, Tremor, Rigidity, Dystonia, Ata... OMIM:261640
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly OMIM:608104
Spinocerebellar Ataxia 7
Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chore... OMIM:164500
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Tremor, Gait ataxia, Dysmetria OMIM:610245
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Inguinal hernia ORPHA:1655
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor OMIM:620158
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Respiratory distress, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoal... OMIM:617156
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Eosinophilic Gastroenteritis
Hypoalbuminemia, Steatorrhea, Elevated circulating C-reactive protein concentration ORPHA:2070
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Hereditary Pulmonary Alveolar Proteinosis
Elevated circulating carcinoembryonic antigen concentration, Respiratory distress, Tachypnea, Abn... ORPHA:264675
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Omenn Syndrome
Hypoproteinemia OMIM:603554
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Flexion contracture, Respiratory distress ORPHA:367
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Oromandibular dystonia, Generalized dystonia, Scissor gait, Spastici... OMIM:617013
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Hypoproteinemia, Tremor, Spastic paraplegia, Hyponatremia, Ataxia, Parkinso... ORPHA:167
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait... OMIM:600116
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hypoglycemia, Hyperalaninemia, Spasticity OMIM:618329
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Autosomal Spastic Paraplegia Type 58
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba... ORPHA:397946
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Leishmaniasis
Hypoalbuminemia ORPHA:507
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hypocholesterolemia, Conjugated hyperbilirubinemia, Steatorrhea OMIM:607765
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Ataxia, Abnor... OMIM:617145
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia, Neonatal insulin-dependent dia... ORPHA:1667
Abetalipoproteinemia
Osteopenia, Babinski sign, Decreased HDL cholesterol concentration, Steatorrhea, Hypotriglyceride... ORPHA:14
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with favorable response to d... ORPHA:53351
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... OMIM:618156
Propionic Acidemia
Limb hypertonia, Osteoporosis, Tachypnea, Hyperammonemia, Dystonia, Apnea, Hypoglycemia, Hypergly... OMIM:606054
Aceruloplasminemia
Limb ataxia, Increased circulating ferritin concentration, Decreased circulating ceruloplasmin co... ORPHA:48818
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Childhood Disintegrative Disorder
Motor deterioration, Progressive language deterioration, Reduced social reciprocity, Dementia, Me... ORPHA:168782
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Hypermanganesemia With Dystonia 1
Bradykinesia, Increased total iron binding capacity, Abnormality of extrapyramidal motor function... OMIM:613280
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Maturity-onset diabetes of the young, Oculogyric crisis, Hyperphenylalaninemia, Tremo... ORPHA:1578
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Reduced intrathoracic adipose tissue, Loss o... ORPHA:2457
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Babinski sign, Spasticity, Spastic tetraparesis, Hyperalaninemia, Ataxia, Elevated circulating ac... OMIM:615838
Aicardi-Goutieres Syndrome 9
Hypertonia, Spasticity, Spastic tetraparesis, Osteoporosis, Lower limb hypertonia, Dystonia, Spas... OMIM:619487
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Cystathioninuria
Tremor, Cystathioninemia ORPHA:212
Methionine Malabsorption Syndrome
Tachypnea, Positive ferric chloride test OMIM:250900
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Pyruvate Dehydrogenase Deficiency
Multiple lipomas, Osteolytic defects of the middle phalanx of the 4th toe, Spasticity, Tremor, Ce... ORPHA:765
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Abnormality ... OMIM:277900
Bacterial Toxic-Shock Syndrome
Respiratory distress, Hypocalcemia, Elevated circulating creatine kinase concentration, Tachypnea... ORPHA:36234
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Alg12-Cdg
Abnormal bone ossification, Abnormal adipose tissue morphology, Camptodactyly, Hyponatremia, Recu... ORPHA:79324
N-Acetylglutamate Synthase Deficiency
Hypertonia, Hyperglutamatemia, Respiratory distress, Hyperalaninemia, Hyperammonemia, Low plasma ... OMIM:237310
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Periodic paralysis, Hand tremor OMIM:609153
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Dystonia, Sma... ORPHA:70594
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia, Respiratory distress ORPHA:292
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concent... OMIM:251880
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Diabete... ORPHA:90041
Xfe Progeroid Syndrome
Corneal scarring, Enamel hypoplasia, Absence of subcutaneous fat, Poor coordination, Hypoalbuminemia OMIM:610965
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Dysmetria OMIM:213200
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hyperostosis frontalis interna, Osteoporosis, Action tremor, Diabetes mellitus, Hy... ORPHA:77296
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Dystonia, Ataxia, Parkinsonism OMIM:618049
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased circulating carnitine concentration, Elevated circulating creatine kinase concentration... OMIM:201475
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:619028
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Spinocerebellar Ataxia With Epilepsy
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Hyperalaninemia, Gait ataxia, Dystonia... ORPHA:254881
Oculopharyngodistal Myopathy 4
Postural tremor, Tremor, Elevated circulating creatine kinase concentration OMIM:619790
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, ... ORPHA:240085
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Inguinal hernia, Hypocalcemia, Unconjugated hy... OMIM:613658
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Spasticity OMIM:618810
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Myo... ORPHA:79263
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Hyperalaninemia, Tremor, Episodic ataxia, Apneic episodes precipitated ... OMIM:312170
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss ORPHA:178509
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidit... OMIM:618877
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intram... OMIM:151660
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Dysmetria OMIM:610185
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Flexion contracture, Respiratory distress OMIM:617303
Atypical Rett Syndrome
Pill-rolling tremor, Apraxia, Sudden episodic apnea, Spasticity, Tremor, Gait ataxia, Involuntary... ORPHA:3095
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Abnormality of extrapyramidal motor function, Spasticity, Ataxia, Myoclonus... OMIM:614299
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr... ORPHA:99750
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Elevated circulating creatine kinase concentration OMIM:619473
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemi... ORPHA:37042
Myopathy With Extrapyramidal Signs
Hypervalinemia, Abnormality of extrapyramidal motor function, Chorea, Tremor, Elevated circulatin... OMIM:615673
Acute Lung Injury
Increased circulating surfactant protein level, Tachypnea, Elevated circulating C-reactive protei... ORPHA:178320
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Elevated circulating creatine kinase concentration ORPHA:209335
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypocystinemia, Tremor, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia OMIM:617744
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Atypical scarring of skin, Decreased circulating i... ORPHA:89842
Galloway-Mowat Syndrome 1
Spasticity, Camptodactyly, Dystonia, Ataxia, Spastic tetraplegia, Hypoalbuminemia, Hiatus hernia,... OMIM:251300
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Tremor, Hyperinsulinemic hypogl... ORPHA:276608
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Torticollis, Spasticity, Parkinsonism with favorable res... OMIM:606693
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Tachypnea, Ataxia, Respiratory distress ORPHA:79242
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Galloway-Mowat Syndrome 3
Hiatus hernia, Hypoalbuminemia, Spasticity, Camptodactyly OMIM:617729
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Osteoporosis, Conjugated hype... ORPHA:186
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Ataxia, Hyperproteinemia ORPHA:158048
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Failure to thrive, Tremor, Babinski sign ORPHA:477673
Liver Disease, Severe Congenital
Inguinal hernia, Hypocalcemia, Hyperbilirubinemia, Poor fine motor coordination, Hypoproteinemia,... OMIM:619991
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysmetria OMIM:614831
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Fasting hypoglycemia, Hyperuricemia, Respiratory distress, Hyperalaninemia... ORPHA:348
Mody
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Glycosuria,... ORPHA:552
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Hyperphenylalaninemia, Rigidity, Dystonia, Chore... OMIM:233910
Staphylococcal Necrotizing Pneumonia
Tachypnea, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Respiratory ... ORPHA:36238
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Idiopathic Neonatal Atrial Flutter
Tachypnea, Maternal diabetes, Respiratory distress ORPHA:45452
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Spastic paraplegia, O... OMIM:300055
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Tremor, Elevated circulating phytanic acid concentration, Ataxia, Dysmetria OMIM:614867
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Camptodactyly, Coronal craniosynostosis, Umbilical hernia, Hypoalbuminemia, Joint contracture of ... OMIM:235510
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia,... ORPHA:98773
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Oromandibular dystonia, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia, ... ORPHA:101
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Fast... ORPHA:263455
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Beta-Ketothiolase Deficiency
Hyperuricemia, Spasticity, Tachypnea, Hyperammonemia, Hyperglycemia, Ataxia, Extrapyramidal dyski... ORPHA:134
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Spasticity, Tremor, Frequent falls, Gait ataxia OMIM:616719
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Tachypnea, Hyperammonemia, Hypernatremia, Hypoornithinemia, Hyperprolinemia, Low... OMIM:615751
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Tremor, Ataxia, Spastic ataxia, Abnormal pyramidal sign OMIM:616795
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Limb dystonia, A... ORPHA:352649
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Periodic paralysis, Tremor, Weight loss OMIM:613239
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculomotor apraxia, Transient hyperphenylalaninemia, Oculogyric crisis, Spasticity, Hyperphenylal... OMIM:612716
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Inguinal hernia, Hyperhomocystinemia, Elevated circulating propionylcarni... OMIM:614857
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Craniosynostosis, Atrophic scars, Enamel hypoplasia, Hypoalbuminemia ORPHA:79396
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign OMIM:608768
Congenital Bile Acid Synthesis Defect Type 4
Elevated circulating creatine kinase concentration, Tremor, Ataxia, Type II diabetes mellitus ORPHA:79095
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Hemiplegia/hemiparesis, Dystonia, Ataxia, Abnormal pyrami... ORPHA:96
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia,... OMIM:128100
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Hernia, Flexion contracture, Respiratory distress ORPHA:505248
Pierson Syndrome
Hypoproteinemia OMIM:609049
Joubert Syndrome 7
Oculomotor apraxia, Ataxia, Tachypnea, Central apnea, Episodic tachypnea OMIM:611560
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fasciculations, Tremor, Frequent falls, Parkinsonism, Mildly elevated creatine kinase ORPHA:329478
Behr Syndrome
Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Frequent falls, Ataxia, Dysmetria OMIM:210000
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Postural tremor, Dysmetria OMIM:607694
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:614298
Spinocerebellar Ataxia Type 27
Limb ataxia, Truncal ataxia, Tremor, Gait ataxia, Hand tremor ORPHA:98764
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Oculomotor apraxia, Chorea, Tremor, Elevated circulating creatine kinase concentrati... OMIM:606002
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Intention tremor, Spastic paraplegia, Failure to thrive, Head titubation,... OMIM:312080
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypergalactosemia, Increased circulating iron concentration, Hyp... OMIM:222470
3-Hydroxy-3-Methylglutaric Aciduria
Spastic hemiparesis, Hyperuricemia, Spasticity, Nonketotic hypoglycemia, Hyperammonemia, Apnea, A... ORPHA:20
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Tremor, Obesity, Parkinsonism ORPHA:3077
Primary Sclerosing Cholangitis
Osteopenia, Hypoalbuminemia, Type I diabetes mellitus, Osteoporosis ORPHA:171
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mildly elevated creatine kinase, Tremor ORPHA:397744
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Truncal ataxia, Dysdiadochokinesis, Tremor, Elevated circulating creatine kinase con... OMIM:617675
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Tremor, Spasticity, Rigidity OMIM:176500
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Plantar flexion contracture, Umbilical hernia, Episodic tachypnea, Sagittal craniosy... ORPHA:2872
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Abnormal pyramidal sign OMIM:618060
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis OMIM:300894
Surfactant Metabolism Dysfunction, Pulmonary, 4
Tachypnea, Intraalveolar phospholipid accumulation OMIM:300770
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Poor motor coordination, Myoclonic spasms, Apnea, Parkinsonism, Clu... ORPHA:79264
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic gait, Hyperornithinemia, Abnormal circulating citrulline concentration, Progressive cereb... ORPHA:415
Juvenile Polyposis Syndrome
Multiple lipomas, Hypoproteinemia, Rectocele ORPHA:2929
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hyperglycemia, Type II diabetes me... OMIM:615812
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Blepharospasm, Ataxia, Myoclonus OMIM:607876
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Subcutaneous lipoma ORPHA:79076
Classic Phenylketonuria
Hypertonia, Paraplegia, Hyperphenylalaninemia, Tremor, Hemiplegia ORPHA:79254
Marburg Hemorrhagic Fever
Elevated circulating creatinine concentration, Hypokalemia, Hyperamylasemia, Elevated circulating... ORPHA:99826
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav... ORPHA:240071
Cholera
Hypokalemia, Hypocalcemia, Tachypnea, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia ORPHA:173
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Abnormal... OMIM:614381
Acute Interstitial Pneumonia
Tachypnea, Elevated circulating creatinine concentration, Elevated circulating C-reactive protein... ORPHA:79126
Joubert Syndrome 9
Episodic tachypnea, Apnea, Oculomotor apraxia OMIM:612285
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperammonemia, Hypertonia OMIM:253270
Tay-Sachs Disease
Ankle clonus, Fasciculations, Incoordination, Increased serum beta-hexosaminidase, Decerebrate ri... ORPHA:845
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Biotinidase Deficiency
Hyperammonemia, Tachypnea, Apnea, Ataxia OMIM:253260
Scorpion Envenomation
Hyperkinetic movements, Increased circulating NT-proBNP concentration, Hypokalemia, Tremor, Hemif... ORPHA:466677
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Glucose intolerance, Dysdiadochokinesis, Tremor, Intention tremor,... OMIM:208900
Perry Syndrome
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Weight loss OMIM:168605
Smith-Lemli-Opitz Syndrome
Hypertoni