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Gene: Nrxn1 MGI:1096391

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Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased fasting circulating glucose level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 9.62×10-05
impaired glucose tolerance Nrxn1tm1b(KOMP)Wtsi HOM   Early adult 1.78×10-05
decreased circulating total protein level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 2.39×10-05
small thymus Nrxn1tm1b(KOMP)Wtsi HET Early adult 0.00
decreased circulating HDL cholesterol level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 1.78×10-09
tremors Nrxn1tm1b(KOMP)Wtsi HOM Early adult 5.76×10-09
increased lean body mass Nrxn1tm1b(KOMP)Wtsi HET Early adult 4.36×10-05
decreased pulmonary respiratory rate Nrxn1tm1b(KOMP)Wtsi HOM Early adult 2.22×10-05
tremors Nrxn1tm1b(KOMP)Wtsi HET   Early adult 2.97×10-05
enlarged stomach Nrxn1tm1b(KOMP)Wtsi HET Early adult 0.00
increased circulating amylase level Nrxn1tm1b(KOMP)Wtsi HET Early adult 2.31×10-06
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 7.77×10-05
decreased grip strength Nrxn1tm1b(KOMP)Wtsi HOM   Early adult 2.09×10-06
decreased circulating cholesterol level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 6.36×10-12
abnormal bone structure Nrxn1tm1b(KOMP)Wtsi HOM Early adult 3.64×10-05
decreased circulating alkaline phosphatase level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 1.07×10-07
decreased circulating serum albumin level Nrxn1tm1b(KOMP)Wtsi HOM Early adult 6.04×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Phenotype associated images not available

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, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Diarrhea 13
Recurrent hypoglycemia, Hypoalbuminemia OMIM:620357
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia, High palate OMIM:309560
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi... ORPHA:309169
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Spastic dysarthria, Hypercholesterolemia, Hypoalbuminemia, Ataxia ORPHA:94124
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia... OMIM:208920
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... ORPHA:79299
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Tremor, Flexion contracture, Respiratory insufficiency, Hypertonia, Hypoproteinemia OMIM:608093
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia OMIM:607250
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi... OMIM:616267
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... OMIM:246700
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Neonatal respiratory distress OMIM:256300
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Spinal Muscular Atrophy, Jokela Type
Tremor, Elevated circulating creatine kinase concentration, Fasciculations OMIM:615048
Congenital Analbuminemia
Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, H... ORPHA:86816
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis ORPHA:88643
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Intention tremor, Myoclonus, Hypocholesterolemia OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia OMIM:613752
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia, Bronchiectasis OMIM:241600
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Inc... ORPHA:26793
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia, Dysphagia OMIM:615945
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Congenital Lethal Erythroderma
Hypoalbuminemia, Respiratory insufficiency ORPHA:1954
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent... OMIM:610947
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations... ORPHA:276435
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Tetrapl... OMIM:603553
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... ORPHA:264675
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Dengue Fever
Hypoproteinemia, Epistaxis, Cardiorespiratory arrest ORPHA:99828
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... OMIM:615924
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Hypertriglyceridemia, Hypoalbuminemia, Cough OMIM:619013
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Lim... ORPHA:210571
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia, Pulmonary embolism OMIM:226300
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait... ORPHA:521406
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia ORPHA:79320
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Restrictive ventilator... OMIM:616414
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Dysphagia, Focal... ORPHA:216873
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... ORPHA:363400
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Hyperphenylalaninemia, Bh4-Deficient, C
Hyperphenylalaninemia, Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... OMIM:612126
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural effusion, Hypoproteinemia ORPHA:90362
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hypoglycemia, Episodic tachypnea, Hyperammonemia, Elevated circulating ... OMIM:615160
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Alg1-Cdg
Respiratory failure, Hypoalbuminemia ORPHA:79327
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Ataxia, Hypoglycemia OMIM:617575
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... OMIM:615558
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypoproteinemia ORPHA:2315
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Immunodeficiency 27A
Abnormal bronchus physiology, Hypoalbuminemia, Pneumonia OMIM:209950
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia,... OMIM:618093
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... ORPHA:567548
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Chronic Bilirubin Encephalopathy
Central apnea, Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubi... ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubi... ORPHA:529799
Insulin-Resistance Syndrome Type B
Pneumonia, Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsuli... ORPHA:2298
Dystonia 12
Torticollis, Parkinsonism, Tremor, Dysphagia, Bradykinesia, Dystonia OMIM:128235
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Epilepsy, Progressive Myoclonic, 6
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Myoclonus OMIM:614018
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Clonus, Spastic tetraplegia, Hy... OMIM:619055
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Tetraplegia, Hand tremor, Fasciculations, Hyperglycemia, Mildly elevated creatine... OMIM:604484
Peroxisome Biogenesis Disorder 3B
Ataxia, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Hypocholeste... OMIM:266510
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra... OMIM:213600
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Dysphagia, Testicular... OMIM:313200
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Saccharopinuria
Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin... ORPHA:3124
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Mpi-Cdg
Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia OMIM:618387
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Dysphagia, Choreoa... OMIM:606159
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Elevated circulating creatine kinase concentration, Tremor, Respiratory insufficiency due to musc... OMIM:159950
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Dysphagia, Focal ... ORPHA:240103
Eosinophilic Gastroenteritis
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Asthma, Hypoalbuminemia... ORPHA:2070
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy... ORPHA:251282
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u... OMIM:620085
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Chorea, Insulin-resistant diabetes mellitus, Dysto... ORPHA:401768
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, Hyperalaninemia, S... OMIM:618329
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Insu... OMIM:612526
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Spastic gait, D... ORPHA:96180
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Gait ataxia, Hypoalbuminemia, Myoclonus, Pleural effusion, Intent... OMIM:254900
Immunodeficiency 32B
Pneumonia, Sinusitis, Hypoalbuminemia, Bronchiectasis OMIM:226990
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein conce... ORPHA:36238
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Hypoproteinemia, Hypocalcemia OMIM:235255
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Omenn Syndrome
Hypoproteinemia, Pneumonia OMIM:603554
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea OMIM:602579
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai... OMIM:617916
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... OMIM:612716
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Ataxia, Tremor, Abnormal subcutaneous fat tissue distribution, Flexion contracture, D... OMIM:212065
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemi... OMIM:617093
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Hyperphenylalaninemia, Tremor, Rigidity, Dysphag... OMIM:261640
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Ataxia, Parkinsonism, Epistaxis, Tremor, Increased circulatin... ORPHA:167
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Flexion contracture, Hypoalbuminemia, Respiratory insufficiency ORPHA:367
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulat... OMIM:614307
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Tetanus
Respiratory distress, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Tachy... ORPHA:3299
Leishmaniasis
Rhinitis, Hypoalbuminemia ORPHA:507
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Pulmonary arterial hypertension, Hypoalbuminemia, Respiratory insufficiency OMIM:617021
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Citrullinemia Type I
Torticollis, Ataxia, Tachypnea, Slurred speech, Hyperammonemia, Ankle clonus, Elevated plasma cit... ORPHA:247525
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Poor motor coordin... OMIM:277900
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Hypoproteinemia, Hypocalcemia ORPHA:1655
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Gastric varix, Hepatocellular carcinoma OMIM:613490
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Ataxia, Babinski sign, Decreased LDL cholest... ORPHA:14
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Acute Lung Injury
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Dyspnea, ... ORPHA:178320
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
X-Linked Dystonia-Parkinsonism
Resting tremor, Protruding tongue, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blephar... ORPHA:53351
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys... OMIM:619405
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... OMIM:242150
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero... OMIM:618156
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Respiratory distress, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbumine... OMIM:617156
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia, Camptodactyly OMIM:608104
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait OMIM:600363
Hypermanganesemia With Dystonia 2
Hypermanganesemia, Limb joint contracture, Elevated circulating creatine kinase concentration, Pa... OMIM:617013
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Clonus, Babinski sign, Hypochromic microcytic anemia, Dysmetria, Dysdiadoch... OMIM:301310
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia OMIM:607765
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Gastrointestinal dysmotility, Ataxia, Dysphagia OMIM:618637
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Spastic tetraparesis, Elevated circulating acylcarnitine concentration, Babinski sign, Ta... OMIM:615838
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of t... ORPHA:765
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Dysphagia, Hypertonia, Hyperkinetic movements, Dystonia, Ac... OMIM:619738
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Dyspnea, Hyperproteinemia, Increased circulating renin l... ORPHA:90041
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalbuminemia, Hype... ORPHA:1667
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Urocanic Aciduria
Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperphenylalaninemia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dyst... OMIM:233910
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... OMIM:300770
Alg12-Cdg
Hyponatremia, Recurrent pneumonia, Abnormal bone ossification, Recurrent hypoglycemia, Hypoalbumi... ORPHA:79324
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Elevated circulating creatine kinase concentration, P... ORPHA:36234
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Propionic Acidemia
Hypoglycemia, Apnea, Tachypnea, Osteoporosis, Hyperammonemia, Hyperglycinemia, Dystonia, Limb hyp... OMIM:606054
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Osteoporosis, Spastic tetraplegia, Spastic diplegia, Lower limb hypertonia,... OMIM:619487
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Inguinal hernia, Hypoglycemia, Tachypnea, Rickets, Respiratory insufficiency, Reduced... OMIM:613658
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Amoebiasis Due To Entamoeba Histolytica
Dyspnea, Pleural empyema, Hypoalbuminemia, Cough, Pleural effusion ORPHA:67
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia, Hypogl... OMIM:251880
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Hypoalbuminemia, Hyperammonemia ORPHA:292
Hypermanganesemia With Dystonia 1
Dystonia, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... OMIM:613280
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinsonism with favorable re... ORPHA:240085
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory failure, Abnormal... OMIM:614299
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
X-Linked Sideroblastic Anemia
Dyspnea, Glucose intolerance, Abnormality of iron homeostasis ORPHA:75563
Methionine Malabsorption Syndrome
Tachypnea, Positive ferric chloride test OMIM:250900
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Oculopharyngodistal Myopathy 4
Postural tremor, Elevated circulating creatine kinase concentration, Tremor, High palate, Dysphagia OMIM:619790
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... ORPHA:1578
Atypical Rett Syndrome
Dystonia, Sudden episodic apnea, Involuntary movements, Episodic tachypnea, Tremor, Limb myoclonu... ORPHA:3095
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Aceruloplasminemia
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... ORPHA:48818
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterole... ORPHA:77296
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Elevated circulating creatine kinase concentration, Tachypnea, Hyperammo... OMIM:201475
Xfe Progeroid Syndrome
Absence of subcutaneous fat, Poor coordination, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia OMIM:610965
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas... OMIM:612953
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Exertiona... ORPHA:86839
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor, Duodenal ulcer OMIM:190310
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Tremor, Apneic episodes precipitated by illness, fatigue, stress, Chore... OMIM:312170
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myoclonus, Dysphagia, Limb myoclonus, F... ORPHA:2590
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Dysphagia, Myoclonus... ORPHA:79263
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Thrombocytopenia OMIM:615010
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Dyspnea, Hyperlipidemia, Hypoalbuminemia, Pleural effusion ORPHA:567546
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp... OMIM:174900
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Flexion contracture, Hypoalbuminemia, Recurrent pneumonia OMIM:617303
Spinocerebellar Ataxia With Epilepsy
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... ORPHA:254881
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Spasticity, Hypocholesterolemia OMIM:618810
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Dyspnea, Ta... ORPHA:79126
Cystathioninuria
Cystathioninemia, Tremor ORPHA:212
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Pneumonia, Abnormal blood ion concentration, Interstitial pneumonitis, Hypo... ORPHA:37042
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hypoglycemia, Episodic tachypnea, Intermittent hyperventilation, Dyspnea, A... ORPHA:348
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Pleural effusion OMIM:618183
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Oculopharyngodistal Myopathy 3
Tremor, Ataxia, Elevated circulating creatine kinase concentration OMIM:619473
Liver Disease, Severe Congenital
Hyponatremia, Status asthmaticus, Inguinal hernia, Pneumonia, Elevated circulating alpha-fetoprot... OMIM:619991
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Tremor, Elevated circulating creatine kinase concentration, Fasciculations ORPHA:209335
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Ataxia, Clonus, Elevated circulating creatine kinase concentr... OMIM:615673
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hyperammonemia ORPHA:664
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... OMIM:606693
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Lopes-Maciel-Rodan Syndrome
Tremor, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Ankle clonus, Hypertonia, Dystonia, Spa... OMIM:617435
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Galloway-Mowat Syndrome 1
Dystonia, Ataxia, Hiatus hernia, Spastic tetraplegia, Hypoalbuminemia, Camptodactyly, Spasticity,... OMIM:251300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor, Weight loss, Hypokalemia, Goiter OMIM:613239
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Pleur... ORPHA:29073
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Pleural effu... ORPHA:90363
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglyce... ORPHA:276608
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Flexion contracture, Atypical scarring of skin, Decreased serum zinc, Hypoa... ORPHA:89842
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Dysphagia, Spastic gait OMIM:616795
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia ORPHA:158048
4H Leukodystrophy
Ataxia, Decreased response to growth hormone stimulation test, Tremor, Dysmetria, Dysphagia, Prog... ORPHA:289494
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pleural effusion, Hypoalbuminemia, Camptodactyly, Umbilical hernia, Coronal craniosynostosis, Joi... OMIM:235510
Al Amyloidosis
Dyspnea, Nonproductive cough, Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Galloway-Mowat Syndrome 3
Spasticity, Hypoalbuminemia, Camptodactyly, Hiatus hernia OMIM:617729
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Ataxia, Hyperammonemia ORPHA:79242
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Osteoporosis, Hypoalbumi... ORPHA:186
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Beta-Ketothiolase Deficiency
Ataxia, Hypoglycemia, Cough, Tachypnea, Hyperammonemia, Hyperuricemia, Extrapyramidal dyskinesia,... ORPHA:134
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Stridor, Hypoalbuminemia, Hernia, Pulmonary arterial h... ORPHA:505248
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Tremor, Hypocystinemia OMIM:617744
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes ORPHA:45452
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, Oculomotor apraxia OMIM:614867
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tremor, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Glycosuria, Fasting hypo... ORPHA:263455
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hypoglycemia, Abnormal pat... ORPHA:3008
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Tachypnea, Hyperhomocystinemia, Eleva... OMIM:614857
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Ataxia, Crackles, Cough, Asthma, Tachypnea, ... OMIM:610978
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... OMIM:128100
Joubert Syndrome 7
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Oculomotor apraxia, Neonatal breathing dysr... OMIM:611560
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Developmental And Epileptic Encephalopathy 46
Tremor, Failure to thrive, Dysphagia, Limb hypertonia OMIM:617162
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemia, Hyperprolinemi... OMIM:615751
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Adult-Onset Distal Myopathy Due To Vcp Mutation
Reduced vital capacity, Parkinsonism, Tremor, Fasciculations, Frequent falls, Mildly elevated cre... ORPHA:329478
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Failure to thrive OMIM:179010
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia ORPHA:79396
Behr Syndrome
Ataxia, Tremor, Babinski sign, Dysmetria, Dysphagia, Progressive spasticity, Truncal ataxia, Freq... OMIM:210000
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Type II diabetes mellitus, Ataxia, Elevated circulating creatine kinase concentration ORPHA:79095
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Dystonia, Spasticity OMIM:607694
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... ORPHA:96
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... OMIM:137440
Pierson Syndrome
Hypoproteinemia OMIM:609049
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... OMIM:312080
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... OMIM:614298
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,... ORPHA:101
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Primary Sclerosing Cholangitis
Osteopenia, Osteoporosis, Hypoalbuminemia, Type I diabetes mellitus, Pleural effusion ORPHA:171
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Parkinsonism, Tremor, Obesity, Macroorchidism ORPHA:3077
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... OMIM:606002
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Cholera
Hyponatremia, Hypoglycemia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemi... ORPHA:173
Juvenile Polyposis Syndrome
Spontaneous, recurrent epistaxis, Epistaxis, Multiple lipomas, Rectocele, Pulmonary arterial hype... ORPHA:2929
Spinocerebellar Ataxia Type 21
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... ORPHA:98773
Metachromatic Leukodystrophy
Incoordination, Ataxia, Dystonia, Abnormal stomach morphology, Tremor, Abnormal gallbladder morph... ORPHA:512
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... OMIM:265120
Pulmonary Alveolar Microlithiasis
Abnormal circulating calcium concentration, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax... ORPHA:60025
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Abnormal stomach morphology, Acute leukemia ORPHA:281090
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... OMIM:618060
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis, Mildly elevated creatine kinase ORPHA:397744
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Hypouricemia, Pure red cell aplasia, Auto... OMIM:613179
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Ataxia, Apnea, Spastic hemiparesis, Tachypnea, Hyperammonemia, Recurrent... ORPHA:20
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Parkinsonism, Apnea, Episodic tachypnea, Clumsiness, Poor fine motor coo... ORPHA:79264
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Limb ataxia, Multi... OMIM:617675
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Marburg Hemorrhagic Fever
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Nonproductive ... ORPHA:99826
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
Ataxia-Telangiectasia
Diabetes mellitus, Ataxia, Sinusitis, Elevated circulating alpha-fetoprotein concentration, Tremo... OMIM:208900
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachyp... ORPHA:2872
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Hypokalemia, Respiratory failure, Interstitial pneumonitis... ORPHA:330021
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Neuromuscular dysphagia, Blepharos... ORPHA:240071
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Diaphragmatic paralysis, Tachypnea, Respiratory failure, Inspiratory str... OMIM:604320
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D... OMIM:614381
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Holocarboxylase Synthetase Deficiency
Hypertonia, Tachypnea, Hyperammonemia, Hyperventilation OMIM:253270
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respiratory failure, Hyperbi... ORPHA:542323
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Dysphagia, Focal ... ORPHA:52368
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome