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Gene: Chrna7 MGI:99779

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Gene Summary

Name:
cholinergic receptor, nicotinic, alpha polypeptide 7
Synonyms:
alpha7 nicotinic receptor,  alpha7-nAChR,  alpha7,  Acra7

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Chrna7tm1b(EUCOMM)Hmgu HOM Early adult 6.79×10-06
increased circulating HDL cholesterol level Chrna7tm1b(EUCOMM)Hmgu HOM Early adult 3.18×10-08
abnormal bone structure Chrna7tm1b(EUCOMM)Hmgu HOM   Early adult 1.11×10-06

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)
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)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  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)
Cerebellum 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)
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)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland 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 0.0% (0 of 2)
Spleen 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 Not available
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 0.71% (4 of 564)
aorta 0.18% (1 of 557)
bone 0.0%
brain 0.87% (5 of 574)
brainstem 0.36% (2 of 556)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 561)
cerebellum 0.54% (3 of 554)
cerebral cortex 0.18% (1 of 560)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 564)
hippocampus 0.36% (2 of 558)
hypothalamus 0.35% (2 of 565)
kidney 4.61% (26 of 564)
large intestine 5.58% (31 of 556)
liver 0.0%
lower urinary tract 0.18% (1 of 560)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
olfactory lobe 0.36% (2 of 554)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.87% (5 of 574)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 569)
peyers patch 0.0%
pituitary gland 0.18% (1 of 558)
prostate gland 1.96% (11 of 561)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 5.65% (31 of 549)
spinal cord 0.36% (2 of 558)
spleen 0.36% (2 of 550)
stomach 3.74% (21 of 561)
striatum 0.53% (3 of 563)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 553)
thyroid gland 3.18% (18 of 566)
trachea 0.54% (3 of 557)
uterus 0.35% (2 of 566)
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.

Adult LacZ

LacZ Images Wholemount

10 Images

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Echo

M-Mode Images

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

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Human diseases caused by Chrna7 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 Chrna7 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
15Q13.3 Microdeletion Syndrome
Bipolar affective disorder, Seizure ORPHA:199318

The table below shows human diseases predicted to be associated to Chrna7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Musk, Inability To Smell
Anosmia OMIM:254150
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... ORPHA:280397
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Hypercholesterolemia OMIM:610947
Epilepsy, Nocturnal Frontal Lobe, 5
Status epilepticus, Cognitive impairment, Depression, Aggressive behavior, Focal-onset seizure, P... OMIM:615005
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Aural Atresia, Congenital
Hyposmia OMIM:607842
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Spinocerebellar Ataxia 37
Ataxia, Frequent falls, Tremor, Unsteady gait, Dysphagia OMIM:615945
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... OMIM:614561
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Dermoid Cysts, Familial Frontonasal
Deviated nasal septum, Nasal congestion, Anosmia, Wide nasal bridge OMIM:600679
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Dystonia 16
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, D... ORPHA:210571
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance OMIM:300660
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Depressed nasal bridge, Anosmia OMIM:113480
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:619707
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:613493
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:168100
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia, Abnormal motor neuron morphology, Hyposmia OMIM:613724
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Myoclonus-Dystonia Syndrome
Spinal myoclonus, Depression, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Personality disorder ORPHA:36899
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... OMIM:260300
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Hemochromatosis, Type 3
Amenorrhea, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia, Anemia OMIM:604250
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait OMIM:616921
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait ORPHA:494526
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T... ORPHA:251282
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:613502
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Dystonia 12
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Dystonia OMIM:128235
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607271
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Impulsivity, Generalized myoclonic ... ORPHA:101039
Epilepsy, Progressive Myoclonic, 12
Depression, Mental deterioration, Myoclonus, Anxiety, Bilateral tonic-clonic seizure OMIM:619191
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Anosmia, Hypogonadism OMIM:616030
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Glutathionuria
Tremor OMIM:231950
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614838
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia OMIM:600116
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Anosmia, Hyposmia OMIM:612702
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM OMIM:613500
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea, Agenesis of corpus callosum, Choanal... OMIM:147950
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Choanal atresia, Aplasia/Hypoplasia involving the nose ORPHA:1135
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Short nasal septum, Anosmia OMIM:302950
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Anosmia, Hyposmia OMIM:610628
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... OMIM:618944
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Bradykinesia, Resting tremor OMIM:616710
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... ORPHA:454887
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... ORPHA:363710
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:612692
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Spinocerebellar Ataxia 23
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia, Agenesis of corpus callosum OMIM:610245
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Anosmia, Hyposmia OMIM:608720
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... OMIM:617284
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... ORPHA:521406
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait OMIM:615768
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking OMIM:615048
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia OMIM:614837
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Myopathy, Spheroid Body
Broad-based gait, Tremor, Dysphagia, Waddling gait OMIM:182920
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... OMIM:270500
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Anosmia, Hyposmia OMIM:244200
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dysphagia, Dystonia OMIM:261630
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Dystonia 16
Bradykinesia, Laryngeal dystonia, Retrocollis, Abnormal pyramidal sign, Parkinsonism, Gait distur... OMIM:612067
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... ORPHA:314978
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Infertility, Immotile sperm OMIM:618449
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Neurodegeneration With Brain Iron Accumulation 8
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait OMIM:617917
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Gait disturbance, Tremor, Dysphagia, Tongue fasciculations ORPHA:276435
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... ORPHA:71517
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... OMIM:617435
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Choreoathetosis, Dysphagia, Dys... OMIM:261640
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
X-Linked Dystonia-Parkinsonism
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:53351
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:240085
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Huntington Disease
Bradyphrenia, Abnormality of the sense of smell, Mental deterioration, Memory impairment, Abnorma... ORPHA:399
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... OMIM:300423
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Dysphagia, A... OMIM:164500
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... ORPHA:99657
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Oligomenorrhea, Secondary ameno... OMIM:228300
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Death in childhood, Dystonia, Myoclonus OMIM:619651
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dysphagia, Dystonia OMIM:618093
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Dystonia OMIM:619647
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance OMIM:210000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating antibody ... OMIM:618969
Myeloma, Multiple
Paraproteinemia OMIM:254500
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination OMIM:213200
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Primary amenorrhea, Hypogonadism, Azoospermia, Anosmia OMIM:614897
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Whim Syndrome 1
Neutropenia OMIM:193670
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... ORPHA:2590
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... OMIM:308240
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... ORPHA:363654
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Tremor, Spastic tetraparesis, Simplified gyral pattern OMIM:619470
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Limb fasciculations, Tremor, Dysphagia, Fatiguable weakness of proximal limb m... ORPHA:90117
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... OMIM:606159
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619824
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Lateral ventricle dilatation... ORPHA:306669
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor OMIM:618090
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... ORPHA:158057
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Primary amenorrhea, Anosmia OMIM:618841
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoporosis, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Gorlin Syndrome
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Hydrocephalus, Wide nasal bridge ORPHA:377
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Hyperphenylalaninemia, Bh4-Deficient, B
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dysphagia, Dystonia, ... OMIM:233910
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Dystonia OMIM:605909
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations, Ora... OMIM:159950
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia ORPHA:98763
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... ORPHA:79263
Autosomal Spastic Paraplegia Type 58
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... ORPHA:397946
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619924
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Tremor, Ataxia OMIM:618637
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... OMIM:606693
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Polymicrogy... OMIM:618877
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Specific Granule Deficiency 2
Thrombocytopenia, Anemia, Absent neutrophil specific granules, Neutropenia OMIM:617475
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... OMIM:619705
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... OMIM:300894
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... OMIM:617145
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Primary amenorrhea, Anosmia OMIM:614841
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Hsd10 Disease
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis, Dysp... ORPHA:391417
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait OMIM:619028
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... OMIM:619220
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619281
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... ORPHA:99750
Dopa-Responsive Dystonia
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... ORPHA:255
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Young-Onset Parkinson Disease
Female sexual dysfunction, Cognitive impairment, Hyposmia, Frontal lobe dementia, Male sexual dys... ORPHA:2828
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Cognitive impairment, Reduced sperm motility, Abnormal sperm head morphology, Abnorm... ORPHA:320391
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Indifference To Pain, Congenital, Autosomal Recessive
Anosmia, Hyposmia OMIM:243000
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... OMIM:607594
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Spinocerebellar Ataxia 42
Ataxia, Babinski sign, Abnormal pyramidal sign, Tremor, Unsteady gait, Dysphagia, Spastic gait, S... OMIM:616795
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia OMIM:617836
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Anemia, Neutropenia, Splenomegaly ORPHA:79312
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... OMIM:606324
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Loss of ambulation, Dysmetria, Babinski sign, Death in early adulthood, Tremor, Spasticit... OMIM:607694
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Tremor, Gait ataxia, Steppage gait OMIM:618387
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Bardet-Biedl Syndrome 17
Hyposmia, Cognitive impairment, Anosmia, Hypogonadism OMIM:615994
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... OMIM:301078
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... ORPHA:35858
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Partial absence of specific antibody response to unconjugated pn... OMIM:240500
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dysphagi... OMIM:619738
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... OMIM:619911
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Epilepsy, Progressive Myoclonic, 6
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking OMIM:614018
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Frequent falls, Tremor, Difficu... OMIM:302800
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... OMIM:618049
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus OMIM:612016
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Tremor, Torsion dystonia, Dysphagia OMIM:224500
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... ORPHA:3095
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Male infertility OMIM:617091
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia ORPHA:79477
Hydrolethalus
Hydrocephalus, Abnormality of the sense of smell, Anencephaly, Arrhinencephaly, Agenesis of corpu... ORPHA:2189
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... ORPHA:572
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia ORPHA:101075
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... OMIM:607483
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia OMIM:618587
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... OMIM:615157
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Neuromuscular dysphagia, Parkinsonism with favorable response to dopaminergic med... ORPHA:240071
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Hypermanganesemia With Dystonia 2
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... OMIM:617013
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Spinocerebellar Ataxia 2
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Myocl... OMIM:183090
Acute Promyelocytic Leukemia
Leukocytosis, Metrorrhagia, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia ORPHA:520
Retinal Venous Beading
Neutropenia OMIM:180080
Spinocerebellar Ataxia Type 27
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... ORPHA:98764
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypogonadotropic hypogonadism, Abnormality of the nares, Short nose, Anosmia ORPHA:1295
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Pyriform aperture stenosis, Choanal atresia, Midnasal stenosis, ... OMIM:147250
Familial Dyskinesia And Facial Myokymia
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia ORPHA:324588
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level OMIM:618982
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia ORPHA:329284
Progressive Supranuclear Palsy
Blepharospasm, Bradykinesia, Rigidity, Falls, Tremor, Unsteady gait, Dysphagia, Abnormal synaptic... ORPHA:683
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Reduced sperm motility OMIM:619436
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Parkinson Disease 20, Early-Onset
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait, Dysphagia, Dystonia OMIM:615530
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... OMIM:128100
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619774
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia OMIM:612438
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dysphagia, Incoordina... OMIM:608768