banner
Genes Phenotypes Help, News, Blog

Gene: Chrna7 MGI:99779

Log in to follow

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 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
increased circulating cholesterol level Chrna7tm1b(EUCOMM)Hmgu HOM Early adult 6.33×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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)
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 0.7% (4 of 575)
aorta 0.0%
bone 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
esophagus 1.73% (7 of 404)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
olfactory lobe 0.17% (1 of 579)
oral epithelium 0.0%
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
parathyroid gland 0.18% (1 of 558)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
uterus 0.35% (2 of 579)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Echo

M-Mode Images

32 Images

View images
Adult LacZ

LacZ Images Wholemount

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View images

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
Seizure, Bipolar affective disorder 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
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Musk, Inability To Smell
Anosmia OMIM:254150
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Familial Alzheimer-Like Prion Disease
Emotional lability, Cognitive impairment, Anxiety, Deficit in phonologic short-term memory, Depre... ORPHA:280397
Severe Primary Trimethylaminuria
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression ORPHA:468726
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Episodic Ataxia, Type 1
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia OMIM:160120
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig... OMIM:606843
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Aural Atresia, Congenital
Hyposmia OMIM:607842
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Ataxia, Dysphagia, Tremor OMIM:615945
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Neutropenia OMIM:614868
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... OMIM:613494
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:605258
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Gait disturbance, Ataxia, Hemiplegia, Abnormality of extrapy... OMIM:614561
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:146110
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... OMIM:620058
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia OMIM:602079
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Dystonia 16
Abnormal pyramidal sign, Parkinsonism, Torticollis, Limb dystonia, Unsteady gait, Postural tremor... ORPHA:210571
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Spinocerebellar Ataxia 40
Unsteady gait, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, D... OMIM:616053
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... OMIM:619177
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:615703
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Sandhoff Disease, Adult Form
Spasticity, Focal dystonia, Dysphagia, Gait ataxia, Tremor, Fasciculations, Dystonia ORPHA:309169
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Spinocerebellar Ataxia 43
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... OMIM:614470
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:615285
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Babinski sign, Ataxia, Tremor OMIM:611105
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619707
Asherman Syndrome
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... ORPHA:137686
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... OMIM:260300
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Gait disturbanc... ORPHA:216873
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Unsteady gait, Chorea, Tremor, Hemiballismus OMIM:616921
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Geniospasm 1
Anxiety, Chin myoclonus OMIM:190100
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Hemochromatosis, Type 3
Anemia, Lymphopenia, Impotence, Amenorrhea, Hypogonadotropic hypogonadism, Neutropenia OMIM:604250
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Parkinsonism With Spasticity, X-Linked
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign OMIM:300911
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Myoclonus-Dystonia Syndrome
Limb myoclonus, Personality disorder, Anxiety, Panic attack, Myoclonus, Depression, Spinal myoclonus ORPHA:36899
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... ORPHA:98826
Primary Dystonia, Dyt13 Type
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... ORPHA:98807
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Agitation, Hemiplegia, Tremor OMIM:141500
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:613502
Epilepsy, Progressive Myoclonic, 12
Anxiety, Bilateral tonic-clonic seizure, Mental deterioration, Myoclonus, Depression OMIM:619191
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Dystonia 12
Parkinsonism, Torticollis, Unsteady gait, Dysphagia, Bradykinesia, Tremor, Dystonia OMIM:128235
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Spinocerebellar Ataxia, X-Linked 1
Unsteady gait, Ataxia, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... OMIM:302500
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus OMIM:614937
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia OMIM:618425
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Anxiety, Motor deterioration, Progressive language deterioratio... ORPHA:168782
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Unsteady gait, Ataxia, Postural tremor, ... ORPHA:98762
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Gait disturbance, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Unsteady gait, Chorea, Tremor, Hemiballismus ORPHA:494526
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... OMIM:128230
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... OMIM:314250
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Death in childhood, Agitation, Tremor, Myoclonus, Dystonia OMIM:619651
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Hyperactivity, Ataxia, Tremor, Myoclonus, Dyst... OMIM:615924
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Hyposmia, Bifid nose OMIM:614838
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... OMIM:607317
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Immunodeficiency 46
Neutropenia, Intermittent thrombocytopenia, Anemia OMIM:616740
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Difficulty walking, Lower limb spasticity, Spastic dysarthria, Spastic ataxia, Dysph... ORPHA:251282
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Testicular atrophy, Primary amenorrhea, Decreased fema... ORPHA:52901
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Corticobasal Syndrome
Limb myoclonus, Limb dystonia, Parkinsonism, Gait disturbance, Oromotor apraxia, Speech apraxia, ... ORPHA:454887
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hyposmia, Hypergonadotropic hypogonadism OMIM:613724
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Primary amenorrhea, Choanal atresia, Hyposmia, Anosmia, Agenesis of corpus callosum, Hypogonadotr... OMIM:147950
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Agammaglobulinemia OMIM:613500
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating IgE level, Decreased circulating total IgM, Decreased circulating IgG level... OMIM:618944
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:612702
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... ORPHA:240103
Spinocerebellar Ataxia Type 37
Gait disturbance, Falls, Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus... ORPHA:363710
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Parkinsonism with favorable response to dopaminergic medication, Postural tremo... ORPHA:314632
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:610628
Dystonia 11, Myoclonic
Torticollis, Alcoholism, Writer's cramp, Tremor, Myoclonus OMIM:159900
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia OMIM:612527
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Gait disturbance, Retrocollis, Tip-toe gait, Tremor, Oromandibular dysto... OMIM:617284
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 lev... OMIM:300310
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Nonprogressive cerebellar ataxia, Unsteady gait, Clumsiness, Spastic dysarthria, ... ORPHA:314978
Huntington Disease-Like 2
Subcortical dementia, Apathy, Anxiety, Dementia, Irritability, Inertia, Memory impairment, Depres... OMIM:606438
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Status epilepticus, Focal-onset seizure, Anxiety, Febrile seizure (wi... ORPHA:101039
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, B lymphocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, ... OMIM:150550
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... OMIM:607688
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Gait disturbance, Dysphagia, Tremor, Fasciculations, Upper motor neuron dysfun... ORPHA:276435
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Ankle clonus, Loss of ambulation, Scissor gait, Tremor, Bradykinesia, O... ORPHA:521406
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations OMIM:615048
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level OMIM:620211
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Decreased circulating IgA level, Reduced natural killer cell act... OMIM:300400
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus OMIM:615957
Immunodeficiency 62
Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,... OMIM:618459
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Short nose, Short nasal septum, Depressed nasal bridge OMIM:302950
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Unsteady gait, Ankle clonus, Tremor, Babinski sign, Truncal ataxia OMIM:615768
Dystonia 16
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Gait disturbance, Retrocollis, Postural tre... OMIM:612067
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Falls, Short stepped shuffling gait, Rigidity, Bradykinesia, Resting tremor, Shuffl... ORPHA:306692
Hyperphenylalaninemia, Bh4-Deficient, C
Dysphagia, Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia OMIM:261630
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Adult Idiopathic Neutropenia
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Impaired tandem gait, Tremor, Myoclonus, Dysmetria, Lower limb spasticity, Impulsivity OMIM:619028
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Rigidity, Chorea, Dysdiadochokinesis, Br... OMIM:213600
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:612692
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Frequent falls, Limb dystonia, Hand tremor, Difficulty w... ORPHA:53351
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Rapid-Onset Dystonia-Parkinsonism
Parkinsonism, Torticollis, Limb dystonia, Dysphagia, Gait ataxia, Bradykinesia, Resting tremor, C... ORPHA:71517
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:598500
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm, Recurrent sinusitis OMIM:618449
Neurodegeneration With Brain Iron Accumulation 8
Unsteady gait, Ataxia, Loss of ambulation, Tremor, Dysmetria OMIM:617917
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Decreased circulating antibody level, Agammaglobul... OMIM:615206
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hyposmia, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:244200
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level OMIM:619773
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Oculomotor apraxia, Unsteady gait, Falls, Blepharospasm, Short stepped shuffling gait, Spastic dy... ORPHA:240094
Parkinson Disease 17
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor, Akinesia OMIM:614203
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Disinhibition, Rigidity, Chorea, Dysphagia, Brad... OMIM:606159
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Difficulty walking, Lateral ventricle dilatation, Tremor, Bradykinesia... ORPHA:306669
Spinocerebellar Ataxia 23
Limb ataxia, Tremor, Gait ataxia, Babinski sign, Agenesis of corpus callosum, Dysmetria OMIM:610245
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Simplified gyral pattern, Tremor, Spastic tetraparesis, Broad-based gait OMIM:619470
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Spinocerebellar Ataxia 7
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... OMIM:164500
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Bardet-Biedl Syndrome 19
Hyposmia, Hypogonadism OMIM:615996
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Primary Dystonia, Dyt2 Type
Limb dystonia, Torticollis, Difficulty walking, Blepharospasm, Generalized dystonia, Tremor, Tors... ORPHA:99657
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Secondary amenorrhea, Azoospermia, Abnormality of the sense of smell, Abnormal sp... OMIM:228300
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Neurodegeneration With Brain Iron Accumulation 7
Dystonia, Ataxia, Loss of ambulation, Dysphagia, Tremor, Lower limb spasticity, Dysmetria OMIM:617916
Huntington Disease
Abnormal libido, Memory impairment, Mental deterioration, Abnormality of the sense of smell, Brad... ORPHA:399
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Rigidity, Tremor, Gait ataxia, Dysmetria OMIM:618090
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia OMIM:618849
Spinocerebellar Ataxia 48
Parkinsonism, Ataxia, Chorea, Dysphagia, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria OMIM:618093
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor, Bradyki... ORPHA:240085
Spermatogenic Failure 38
Abnormal sperm head morphology, Oligospermia, Coiled sperm flagella, Absent sperm flagella, Male ... OMIM:618433
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Primary amenorrhea, Hyposmia, Azoospermia, Anosmia OMIM:614897
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Cogwheel rigidity, Scissor gait, Lateral ventricle dilatation, Bradykin... ORPHA:363654
Whim Syndrome 1
Neutropenia OMIM:193670
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Inability to walk, Short stepped shuffling gait, Slowed slurred speech, ... ORPHA:391411
Myeloma, Multiple
Paraproteinemia OMIM:254500
Spinocerebellar Ataxia 18
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria OMIM:607458
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia, Primary amenorrhea OMIM:614880
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia OMIM:617638
Glutathionuria
Dysdiadochokinesis, Tremor, Gray matter heterotopia, Action tremor, Agenesis of corpus callosum OMIM:231950
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... OMIM:613135
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... OMIM:300835
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thrombocytopenia, Erythroid hypop... ORPHA:101096
Slc35A1-Cdg
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia ORPHA:238459
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Thrombocytopenia, Pancytopenia, Lymphocytosis, Splenomegaly, N... OMIM:308240
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... ORPHA:158057
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... OMIM:618986
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Hyperactivity, Ataxia, Tremor, Choreoathetosis, Dystonia OMIM:612716
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia, Hypoplasia of the ovary, Primary amenorrhea OMIM:618841
Lopes-Maciel-Rodan Syndrome
Spasticity, Abnormal pyramidal sign, Unsteady gait, Agitation, Ankle clonus, Dysphagia, Bradykine... OMIM:617435
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Inability to walk, Limb fasciculations, Dysphagia, ... ORPHA:90117
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Attention deficit hyperactivity disorder, Ataxia, Tremor OMIM:616421
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Frequent falls, Limb myoclonus, Eyelid myoclonus, Inability to walk, Difficulty walking, Clumsine... ORPHA:2590
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Rigidity, Dysphagia, Tremor, Lethargy, Choreoathetosis, ... OMIM:233910
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoporosis, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Unsteady gait, Clonus, Titubati... ORPHA:397946
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Difficulty walking, Myoclonus OMIM:613608
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia OMIM:614879
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Gorlin Syndrome
Abnormality of the sense of smell, Hypogonadotropic hypogonadism, Wide nasal bridge, Hydrocephalus ORPHA:377
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Torticollis, Gait disturbance, Ataxia, Parkinsonism with favorable resp... OMIM:606693
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus ORPHA:98763
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign OMIM:615362
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Ataxia, Tremor OMIM:618637
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic spasms, Unsteady gait, Ataxia, Clumsiness, Chorea, Dysphagia, Tremor, Myocl... ORPHA:79263
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619924
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Azoospermia, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614837
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Polymicrogyria, Parkinsonism, Inability to walk, Head titubation, Rigidity, Tremor, B... OMIM:618877
Hsd10 Disease
Gait disturbance, Ataxia, Rigidity, Dysphagia, Tremor, Myoclonus, Choreoathetosis, Spastic parapa... ORPHA:391417
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity OMIM:600363
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Gait disturbance, Ataxia, Dysdiadochoki... OMIM:617145
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... ORPHA:486
Specific Granule Deficiency 2
Neutropenia, Thrombocytopenia, Absent neutrophil specific granules, Anemia OMIM:617475
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Fluctuating sp... OMIM:619220
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Unsteady gait, Falls, Blepharospasm, S... ORPHA:99750
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia, Hypoplasia of the ovary, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614841
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, B lymphocytope... OMIM:619705
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Ataxia, Limb hypertonia, Rigidity, Dysphagia, Bradykinesia, Tremor, Hypertonia, Cho... OMIM:261640
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia, Hypogonadism, Primary amenorrhea OMIM:616030
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Immunodeficiency 15B
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... OMIM:615592
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:88
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Neutropenia, Splenomegaly, Anemia ORPHA:79312
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Unsteady gait, Ataxia, Spastic ataxia, Dysphagia, Tremor, Spastic gait, ... OMIM:616795
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... OMIM:606324
Dopa-Responsive Dystonia
Parkinsonism, Inability to walk, Leg dystonia, Poor coordination, Gait disturbance, Difficulty wa... ORPHA:255
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... ORPHA:98850
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Falls, Blepharospasm, Axial dystonia, Parkinsonism with fa... ORPHA:240071
Parkinsonism-Dystonia 3, Childhood-Onset
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Dysphagia, Tremor, Action tremor, Hypertoni... OMIM:619738
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Ataxia, Loss of ambulation, Tremor, Myoclonus OMIM:614018
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:617836
Young-Onset Parkinson Disease
Female sexual dysfunction, Cognitive impairment, Dementia, Frontal lobe dementia, Hyposmia, Male ... ORPHA:2828
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Death in early adulthood, Ataxia, Postural tremor, Loss of ambulation, Dysphagia, Tre... OMIM:607694
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Abnormal sperm morphology, Cognitive impairment, Dementia, Infert... ORPHA:320391
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Dysphagia, Ga... OMIM:615157
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Unsteady gait, Ataxia, Tremor, Gait ataxia, Incoordination, Dysmetria OMIM:213200
Indifference To Pain, Congenital, Autosomal Recessive
Anosmia, Hyposmia OMIM:243000
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired T cell function, Parti... OMIM:240500
Progressive Supranuclear Palsy
Unsteady gait, Falls, Blepharospasm, Rigidity, Dysphagia, Bradykinesia, Abnormal synaptic transmi... ORPHA:683
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Parkinsonism, Clumsiness, Postural tremor, Rigidity, Bradykinesia, Resting tremor, Freezing of ga... OMIM:619911
Behr Syndrome
Frequent falls, Progressive spasticity, Gait disturbance, Unsteady gait, Ataxia, Dysphagia, Tremo... OMIM:210000
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia OMIM:615387
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Agranulocytos... OMIM:301078
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Difficulty walking, Dysphagia, Tremor, Myoclonus, Tongue fasciculations OMIM:159950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Dysphagia, Tremor, Torsion dystonia OMIM:224500
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Frequent falls, Gait disturbance, Hand tremor, Difficulty walking, Paraparesis, Tip-toe gait, Dys... OMIM:302800
Bardet-Biedl Syndrome 17
Cognitive impairment, Anosmia, Hyposmia, Hypogonadism OMIM:615994
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Reduced circulating interleukin... OMIM:619632
Parkinsonism-Dystonia 2, Infantile-Onset
Parkinsonism, Ataxia, Oculogyric crisis, Shuffling gait, Dysdiadochokinesis, Tremor, Incoordinati... OMIM:618049
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Truncal atax... OMIM:610185
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Griscelli Syndrome Type 2
Neutropenia, Pancytopenia, Hemophagocytosis, Splenomegaly ORPHA:79477
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Frequent falls, Tetraparesis, Abnormal pyramidal sign, Inability to walk, Cogwheel rigidity, Para... OMIM:607483
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Atypical Rett Syndrome
Spasticity, Limb myoclonus, Inability to walk, Gait disturbance, Agitation, Apraxia, Loss of ambu... ORPHA:3095
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:607594
Dystonia 13, Torsion, Autosomal Dominant
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... OMIM:607671
Hydrolethalus
Hydrocephalus, Anencephaly, Arrhinencephaly, Abnormality of the sense of smell, Agenesis of corpu... ORPHA:2189
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:614069
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Chronic rhinitis, Male infertility, Recurrent bronchitis, Recurrent sinusitis OMIM:617091
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Steppage gait, Tremor, Gait ataxia, Dysmetria OMIM:618387
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Gait disturbance, Ataxia ORPHA:101075
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Parkinsonism, Inability to walk, Gait disturbance, Clumsiness, Ankle c... OMIM:617013
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Spinocerebellar Ataxia 2
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... OMIM:183090
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Anemia, Metrorrhagia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:520
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:572
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic tetraplegia, Parkinsonism, Ataxia, Restlessness, Apraxia, Shuffling gait, Tremor, Bradyki... OMIM:300055
Parkinson Disease 20, Early-Onset
Parkinsonism, Gait disturbance, Short stepped shuffling gait, Rigidity, Shuffling gait, Dysphagia... OMIM:615530
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Spinocerebellar Ataxia Type 27
Limb ataxia, Gait disturbance, Hand tremor, Difficulty walking, Tremor, Gait ataxia, Akinesia, Tr... ORPHA:98764
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Lymphopenia, Cutaneous abscess, Neutropenia OMIM:619752
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Inability to walk, Blepharospasm, Generalized dystonia, Writer's cramp, Dysphagia, T... OMIM:128100
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short nose, Hypogonadotropic hypogonadism, Abnormal nostril morphology ORPHA:1295
Autosomal Dominant Cerebellar Ataxia
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... ORPHA:99
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis ORPHA:329284
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Thrombocytopenia, Coombs-positive... OMIM:304790
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619774
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Myoclonus, Dystonia ORPHA:139485
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Tremor, Incoordina... OMIM:608768
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Solitary Median Maxillary Central Incisor
Choanal atresia, Pyriform aperture stenosis, Midnasal stenosis, Anosmia, Abnormal nasopharynx mor... OMIM:147250
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased circulating IgA level OMIM:617744
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Communicating hydrocephalus, Chronic rhinitis, Male infertility, Anosmia, Recurr... OMIM:244400
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Paraparesis, Progressive extrapyramidal movement disorder, Rigidity, Tremor, Myoclonus, H... OMIM:612736
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Inability to walk, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dysm... OMIM:614831
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Neutropenia, Anemia OMIM:619835
Immunodeficiency 60 And Autoimmunity